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UBE3A ubiquitin protein ligase E3A [ Homo sapiens (human) ]

Gene ID: 7337, updated on 16-Apr-2024

Summary

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Official Symbol
UBE3Aprovided by HGNC
Official Full Name
ubiquitin protein ligase E3Aprovided by HGNC
Primary source
HGNC:HGNC:12496
See related
Ensembl:ENSG00000114062 MIM:601623; AllianceGenome:HGNC:12496
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AS; ANCR; PIX1; E6-AP; HPVE6A; EPVE6AP
Summary
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
15q11.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (25333728..25439056, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23070379..23175682, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25578875..25684203, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 115-48 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene Sharpr-MPRA regulatory region 5757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:25683287-25684232 and GRCh37_chr15:25684233-25685178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:25726194-25726733 Neighboring gene Sharpr-MPRA regulatory region 718 Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:25789643-25790842 Neighboring gene uncharacterized LOC107984789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:25808594-25809158 Neighboring gene uncharacterized LOC124903448

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons. Elamin M, et al. Stem Cell Reports, 2023 Apr 11. PMID 36898382, Free PMC Article
  2. UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer. Zhang N, et al. Bioengineered, 2022 May. PMID 35531878, Free PMC Article
  3. Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet. Melikishvili G, et al. Seizure, 2022 Jan. PMID 34872019
  4. Genotype-Phenotype Correlations in Angelman Syndrome. Yang L, et al. Genes (Basel), 2021 Jun 28. PMID 34203304, Free PMC Article
  5. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Bossuyt SNV, et al. Hum Mol Genet, 2021 Apr 30. PMID 33607653, Free PMC Article

See all (367) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis.
    Title: CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis.
  2. LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP.
    Title: LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP.
  3. UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
    Title: UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
  4. Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
    Title: Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases.
  5. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
    Title: The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.
  6. Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
    Title: Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.
  7. Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines.
    Title: Tumor Suppressor p53 Inhibits Hepatitis B Virus Replication by Downregulating HBx via E6AP-Mediated Proteasomal Degradation in Human Hepatocellular Carcinoma Cell Lines.
  8. UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer.
    Title: UBE3A deletion enhances the efficiency of immunotherapy in non-small-cell lung cancer.
  9. UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185.
    Title: UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185.
  10. Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.
    Title: Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.
Submit: New GeneRIF Correction See all GeneRIFs (180)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Angelman syndrome
MedGen: C0162635 OMIM: 105830 GeneReviews: Angelman Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-08-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26981

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in androgen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to brain-derived neurotrophic factor stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in locomotory exploration behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in motor learning IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of TORC1 signaling ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in negative regulation of dendritic spine morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of Golgi lumen acidification IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in progesterone receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in prostate gland growth IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein autoubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to cocaine IEA
Inferred from Electronic Annotation
more info
  
involved_in response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
  
involved_in response to progesterone IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm entry IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of proteasome complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ubiquitin-protein ligase E3A
Names
CTCL tumor antigen se37-2
E6AP ubiquitin-protein ligase
HECT-type ubiquitin transferase E3A
human papilloma virus E6-associated protein
human papillomavirus E6-associated protein
oncogenic protein-associated protein E6-AP
renal carcinoma antigen NY-REN-54
NP_000453.2
NP_001341434.1
NP_001341435.1
NP_001341436.1
NP_001341437.1
NP_001341438.1
NP_001341440.1
NP_001341441.1
NP_001341442.1
NP_001341452.1
NP_001341455.1
NP_001341467.1
NP_001341468.1
NP_001341469.1
NP_001341470.1
NP_001341471.1
NP_001341472.1
NP_001341473.1
NP_001341474.1
NP_001341475.1
NP_001341476.1
NP_001341477.1
NP_001341478.1
NP_001341479.1
NP_001341480.1
NP_001361390.1
NP_570853.1
NP_570854.1
XP_011520297.1
XP_016878036.1
XP_016878037.1
XP_016878039.1
XP_024305811.1
XP_047288963.1
XP_047288964.1
XP_047288965.1
XP_047288966.1
XP_047288967.1
XP_047288968.1
XP_047288969.1
XP_047288970.1
XP_047288971.1
XP_047288972.1
XP_047288973.1
XP_047288974.1
XP_047288975.1
XP_047288976.1
XP_047288977.1
XP_054234720.1
XP_054234721.1
XP_054234722.1
XP_054234723.1
XP_054234724.1
XP_054234725.1
XP_054234726.1
XP_054234727.1
XP_054234728.1
XP_054234729.1
XP_054234730.1
XP_054234731.1
XP_054234732.1
XP_054234733.1
XP_054234734.1
XP_054234735.1
XP_054234736.1
XP_054234737.1
XP_054234738.1
XP_054234739.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009268.1 RefSeqGene

    Range
    38476..106733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_15

mRNA and Protein(s)

  1. NM_000462.5 → NP_000453.2  ubiquitin-protein ligase E3A isoform 2

    See identical proteins and their annotated locations for NP_000453.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45192.1
    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    UniProtKB/TrEMBL
    Q9BUI6
    Related
    ENSP00000497594.1, ENST00000650110.1
    Conserved Domains (2) summary
    cd00078
    Location:523 → 873
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:29 → 83
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  2. NM_001354505.1 → NP_001341434.1  ubiquitin-protein ligase E3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45191.1
    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  3. NM_001354506.2 → NP_001341435.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000401265.2, ENST00000428984.6
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  4. NM_001354507.2 → NP_001341436.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  5. NM_001354508.2 → NP_001341437.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000486349.1, ENST00000630424.2
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  6. NM_001354509.2 → NP_001341438.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, DA807801, U84404
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000457771.1, ENST00000566215.5
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  7. NM_001354511.2 → NP_001341440.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  8. NM_001354512.2 → NP_001341441.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  9. NM_001354513.2 → NP_001341442.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  10. NM_001354523.2 → NP_001341452.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS86436.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000490111.1, ENST00000638011.1
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  11. NM_001354526.1 → NP_001341455.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  12. NM_001354538.2 → NP_001341467.1  ubiquitin-protein ligase E3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS45191.1
    UniProtKB/TrEMBL
    Q9BUI6
    Related
    ENSP00000490258.1, ENST00000637886.1
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  13. NM_001354539.2 → NP_001341468.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  14. NM_001354540.2 → NP_001341469.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  15. NM_001354541.2 → NP_001341470.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  16. NM_001354542.2 → NP_001341471.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  17. NM_001354543.2 → NP_001341472.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000490557.1, ENST00000638155.1
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  18. NM_001354544.2 → NP_001341473.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000411258.1, ENST00000438097.6
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  19. NM_001354545.2 → NP_001341474.1  ubiquitin-protein ligase E3A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:520 → 818
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  20. NM_001354546.2 → NP_001341475.1  ubiquitin-protein ligase E3A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS91966.1
    UniProtKB/TrEMBL
    A0A6Q8PHE5, Q5W7F7
    Related
    ENSP00000502703.1, ENST00000675177.1
    Conserved Domains (1) summary
    cd00078
    Location:461 → 811
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

  21. NM_001354547.2 → NP_001341476.1  ubiquitin-protein ligase E3A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    UniProtKB/TrEMBL
    Q5W7F7
    Conserved Domains (2) summary
    cd00078
    Location:500 → 798
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  22. NM_001354548.2 → NP_001341477.1  ubiquitin-protein ligase E3A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    UniProtKB/TrEMBL
    Q5W7F7
    Conserved Domains (2) summary
    cd00078
    Location:500 → 798
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  23. NM_001354549.2 → NP_001341478.1  ubiquitin-protein ligase E3A isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    UniProtKB/TrEMBL
    Q5W7F7
    Conserved Domains (2) summary
    cd00078
    Location:500 → 795
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  24. NM_001354550.2 → NP_001341479.1  ubiquitin-protein ligase E3A isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:121 → 453
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  25. NM_001354551.2 → NP_001341480.1  ubiquitin-protein ligase E3A isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Conserved Domains (2) summary
    cd00078
    Location:101 → 433
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  26. NM_001374461.1 → NP_001361390.1  ubiquitin-protein ligase E3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  27. NM_130838.4 → NP_570853.1  ubiquitin-protein ligase E3A isoform 1

    See identical proteins and their annotated locations for NP_570853.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses a downstream in-frame start codon, as compared to variant 2. The encoded isoform (1) is shorter than isoform 2.
    Source sequence(s)
    AC100774, AC124997
    Consensus CDS
    CCDS32177.1
    UniProtKB/TrEMBL
    Q5W7F7, Q9H2G0
    Related
    ENSP00000497549.1, ENST00000649550.1
    Conserved Domains (2) summary
    cd00078
    Location:500 → 850
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:6 → 60
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  28. NM_130839.5 → NP_570854.1  ubiquitin-protein ligase E3A isoform 3

    See identical proteins and their annotated locations for NP_570854.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, and uses an alternate start codon compared to variant 2. The encoded isoform (3) has a distinct N-terminus and is 3 and is shorter than isoform 2.
    Source sequence(s)
    AC100774, AC124997, AK292514, BC002582
    Consensus CDS
    CCDS45191.1
    UniProtKB/TrEMBL
    Q9BUI6
    Related
    ENSP00000497572.2, ENST00000648336.2
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

RNA

  1. NR_148916.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC100774, AC124997

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    25333728..25439056 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022548.3 → XP_016878037.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  2. XM_017022547.3 → XP_016878036.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  3. XM_047433008.1 → XP_047288964.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  4. XM_011521995.4 → XP_011520297.1  ubiquitin-protein ligase E3A isoform X1

    See identical proteins and their annotated locations for XP_011520297.1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:523 → 873
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:29 → 83
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  5. XM_047433015.1 → XP_047288971.1  ubiquitin-protein ligase E3A isoform X2

  6. XM_017022550.3 → XP_016878039.1  ubiquitin-protein ligase E3A isoform X2

    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:520 → 870
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:26 → 80
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  7. XM_047433009.1 → XP_047288965.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  8. XM_047433019.1 → XP_047288975.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  9. XM_047433021.1 → XP_047288977.1  ubiquitin-protein ligase E3A isoform X5

  10. XM_047433010.1 → XP_047288966.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  11. XM_047433014.1 → XP_047288970.1  ubiquitin-protein ligase E3A isoform X2

  12. XM_047433012.1 → XP_047288968.1  ubiquitin-protein ligase E3A isoform X2

  13. XM_047433013.1 → XP_047288969.1  ubiquitin-protein ligase E3A isoform X2

  14. XM_024450043.2 → XP_024305811.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9
    UniProtKB/TrEMBL
    Q9BUI6
    Conserved Domains (2) summary
    cd00078
    Location:523 → 873
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam16558
    Location:29 → 83
    AZUL; Amino-terminal Zinc-binding domain of ubiquitin ligase E3A

  15. XM_047433018.1 → XP_047288974.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  16. XM_047433011.1 → XP_047288967.1  ubiquitin-protein ligase E3A isoform X2

  17. XM_047433017.1 → XP_047288973.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  18. XM_047433020.1 → XP_047288976.1  ubiquitin-protein ligase E3A isoform X4

  19. XM_047433007.1 → XP_047288963.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  20. XM_047433016.1 → XP_047288972.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    23070379..23175682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378754.1 → XP_054234729.1  ubiquitin-protein ligase E3A isoform X2

  2. XM_054378751.1 → XP_054234726.1  ubiquitin-protein ligase E3A isoform X2

  3. XM_054378749.1 → XP_054234724.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  4. XM_054378747.1 → XP_054234722.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  5. XM_054378757.1 → XP_054234732.1  ubiquitin-protein ligase E3A isoform X2

  6. XM_054378758.1 → XP_054234733.1  ubiquitin-protein ligase E3A isoform X2

  7. XM_054378762.1 → XP_054234737.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  8. XM_054378764.1 → XP_054234739.1  ubiquitin-protein ligase E3A isoform X5

  9. XM_054378750.1 → XP_054234725.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  10. XM_054378756.1 → XP_054234731.1  ubiquitin-protein ligase E3A isoform X2

  11. XM_054378753.1 → XP_054234728.1  ubiquitin-protein ligase E3A isoform X2

  12. XM_054378748.1 → XP_054234723.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  13. XM_054378755.1 → XP_054234730.1  ubiquitin-protein ligase E3A isoform X2

  14. XM_054378746.1 → XP_054234721.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  15. XM_054378761.1 → XP_054234736.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  16. XM_054378752.1 → XP_054234727.1  ubiquitin-protein ligase E3A isoform X2

  17. XM_054378760.1 → XP_054234735.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0

  18. XM_054378763.1 → XP_054234738.1  ubiquitin-protein ligase E3A isoform X4

  19. XM_054378745.1 → XP_054234720.1  ubiquitin-protein ligase E3A isoform X1

    UniProtKB/Swiss-Prot
    A8K8Z9, P78355, Q05086, Q93066, Q9UEP4, Q9UEP5, Q9UEP6, Q9UEP7, Q9UEP8, Q9UEP9

  20. XM_054378759.1 → XP_054234734.1  ubiquitin-protein ligase E3A isoform X3

    UniProtKB/TrEMBL
    Q9H2G0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q05086.4 GenPept UniProtKB/Swiss-Prot:Q05086

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