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GRIP1 glutamate receptor interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 23426, updated on 7-Apr-2024

Summary

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Official Symbol
GRIP1provided by HGNC
Official Full Name
glutamate receptor interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:18708
See related
Ensembl:ENSG00000155974 MIM:604597; AllianceGenome:HGNC:18708
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
GRIP; FRASRS3
Summary
This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
Annotation information
Note: GRIP1 (Gene ID: 23426) and NCOA2 (Gene ID: 10499) share the GRIP1 symbol/alias in common. GRIP1 is a widely used alternative name for nuclear receptor coactivator 2 (NCOA2), which can be confused with the official symbol for glutamate receptor-interacting protein 1 (GRIP1). [06 Jul 2018]
Expression
Broad expression in placenta (RPKM 1.6), skin (RPKM 1.5) and 23 other tissues See more
Orthologs
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Genomic context

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See GRIP1 in Genome Data Viewer
Location:
12q14.3
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (66347431..67069338, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66326883..67048770, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66741211..67463118, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6619 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105369811 Neighboring gene DNA helicase B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66801605-66802105 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66890797-66891645 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66891646-66892493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6620 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:66978252-66978488 Neighboring gene oxysterol binding protein like 9 pseudogene 4 Neighboring gene oxysterol binding protein like 9 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6621 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67052705-67053206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4638 Neighboring gene Sharpr-MPRA regulatory region 5579 Neighboring gene VISTA enhancer hs1498 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67175965-67176466 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:67224101-67224271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67279097-67279597 Neighboring gene uncharacterized LOC124902956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67461160-67461666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:67461667-67462171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4639 Neighboring gene uncharacterized LOC102724421 Neighboring gene RAB11A, member RAS oncogene family pseudogene 2

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 first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1. Koprulu M, et al. Am J Med Genet A, 2021 Jun. PMID 33709629
  2. Structural insight into GRIP1-PDZ6 in Alzheimer's disease: study from protein expression data to molecular dynamics simulations. Chatterjee P, et al. J Biomol Struct Dyn, 2017 Aug. PMID 27425598
  3. Mutations in GRIP1 cause Fraser syndrome. Vogel MJ, et al. J Med Genet, 2012 May. PMID 22510445
  4. No association of GRIP1 gene polymorphisms with schizophrenia in Chinese population. Tsai SJ, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2007 Apr 13. PMID 17303296
  5. Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. Long J, et al. J Mol Biol, 2008 Feb 1. PMID 18155042

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
    Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
  2. GRIP1 is phosphorylated at an N-terminal serine cluster by cyclin-dependent kinase-9 (CDK9), which is recruited into GC-induced GR:GRIP1:CDK9 hetero-complexes, producing distinct GRE-specific GRIP1 phospho-isoforms.
    Title: Glucocorticoid-induced phosphorylation by CDK9 modulates the coactivator functions of transcriptional cofactor GRIP1 in macrophages.
  3. Data suggest that molecules in the erythropoietin-producing hepatocellular receptor B family (EPHB) / ephrinB (EFNB) signalling pathways, specifically ephrin B3 and GRIP1, are involved blood pressure regulation.
    Title: The role of GRIP1 and ephrin B3 in blood pressure control and vascular smooth muscle cell contractility.
  4. GRIP1 was identified as one of the most important differentially expressed, topologically significant proteins in the protein-protein interaction network in Alzheimer's disease.
    Title: Structural insight into GRIP1-PDZ6 in Alzheimer's disease: study from protein expression data to molecular dynamics simulations.
  5. the Trip6-GRIP1-myosin VI interaction and its regulation on F-actin network play a significant role in dendritic morphogenesis
    Title: Trip6 promotes dendritic morphogenesis through dephosphorylated GRIP1-dependent myosin VI and F-actin organization.
  6. In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
    Title: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
  7. In three unrelated families with parental consanguinity, GRIP1 mutations were found to segregate with Fraser syndrome in an autosomal recessive manner.
    Title: Mutations in GRIP1 cause Fraser syndrome.
  8. Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism
    Title: Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
  9. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
  10. GRIP1 splice forms interact with gephyrin and play a role in synaptic function at GABAergic and glycinergic synapses in cultured hippocampal neurons.
    Title: Gephyrin interacts with the glutamate receptor interacting protein 1 isoforms at GABAergic synapses.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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
Fraser syndrome 3
MedGen: C4540040 OMIM: 617667 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.
EBI GWAS Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor complex adaptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of neuron projection arborization ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
glutamate receptor-interacting protein 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_021400.2 RefSeqGene

    Range
    395190..726835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178074.2 → NP_001171545.1  glutamate receptor-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001171545.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C- termini compared to isoform 1.
    Source sequence(s)
    AC078889, AI190011, AK095519, BC115393, DA801887
    UniProtKB/TrEMBL
    F5H4N6
    Related
    ENSP00000446047.1, ENST00000538211.5
    Conserved Domains (1) summary
    cd00992
    Location:152 → 235
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  2. NM_001366722.1 → NP_001353651.1  glutamate receptor-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC078889, AC090710, AC122686, AC135251
    Consensus CDS
    CCDS91722.1
    UniProtKB/Swiss-Prot
    C9JT59, Q1RLM0, Q9Y3R0
    UniProtKB/TrEMBL
    F5H4N6
    Related
    ENSP00000352780.4, ENST00000359742.9
    Conserved Domains (1) summary
    cd00992
    Location:152 → 235
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  3. NM_001366723.1 → NP_001353652.1  glutamate receptor-interacting protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC078888, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:178 → 261
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  4. NM_001366724.1 → NP_001353653.1  glutamate receptor-interacting protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC078888, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:178 → 261
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  5. NM_001379345.1 → NP_001366274.1  glutamate receptor-interacting protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC078888, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:178 → 261
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  6. NM_001379346.1 → NP_001366275.1  glutamate receptor-interacting protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC078889, AC090710, AC122686, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:152 → 235
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  7. NM_001379347.1 → NP_001366276.1  glutamate receptor-interacting protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC078888, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:178 → 261
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  8. NM_001379348.1 → NP_001366277.1  glutamate receptor-interacting protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC078888, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:178 → 261
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  9. NM_001379349.1 → NP_001366278.1  glutamate receptor-interacting protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC073530, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:153 → 236
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  10. NM_001379351.1 → NP_001366280.1  glutamate receptor-interacting protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC073530, AC078889, AC090710, AC135251
    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:153 → 236
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  11. NM_021150.4 → NP_066973.2  glutamate receptor-interacting protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC078889, AI190011, BC115393, DA801887
    Consensus CDS
    CCDS41807.1
    UniProtKB/TrEMBL
    F5H4N6
    Related
    ENSP00000381098.3, ENST00000398016.7
    Conserved Domains (1) summary
    cd00992
    Location:152 → 235
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    66347431..67069338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428622.1 → XP_047284578.1  glutamate receptor-interacting protein 1 isoform X11

    Related
    ENSP00000439053.1, ENST00000538164.5

  2. XM_005268757.5 → XP_005268814.1  glutamate receptor-interacting protein 1 isoform X10

    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:126 → 209
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  3. XM_047428620.1 → XP_047284576.1  glutamate receptor-interacting protein 1 isoform X8

  4. XM_047428619.1 → XP_047284575.1  glutamate receptor-interacting protein 1 isoform X7

  5. XM_005268754.5 → XP_005268811.1  glutamate receptor-interacting protein 1 isoform X6

    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:153 → 236
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  6. XM_047428617.1 → XP_047284573.1  glutamate receptor-interacting protein 1 isoform X3

  7. XM_047428621.1 → XP_047284577.1  glutamate receptor-interacting protein 1 isoform X9

  8. XM_047428616.1 → XP_047284572.1  glutamate receptor-interacting protein 1 isoform X2

  9. XM_047428618.1 → XP_047284574.1  glutamate receptor-interacting protein 1 isoform X5

  10. XM_017019100.2 → XP_016874589.1  glutamate receptor-interacting protein 1 isoform X4

    UniProtKB/TrEMBL
    A0A8V8TLS6, F5H4N6
    Related
    ENSP00000513025.1, ENST00000696989.1
    Conserved Domains (1) summary
    cd00992
    Location:227 → 310
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

  11. XM_017019098.2 → XP_016874587.1  glutamate receptor-interacting protein 1 isoform X1

    UniProtKB/TrEMBL
    F5H4N6
    Conserved Domains (1) summary
    cd00992
    Location:227 → 310
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    66326883..67048770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371592.1 → XP_054227567.1  glutamate receptor-interacting protein 1 isoform X11

  2. XM_054371591.1 → XP_054227566.1  glutamate receptor-interacting protein 1 isoform X10

  3. XM_054371589.1 → XP_054227564.1  glutamate receptor-interacting protein 1 isoform X8

  4. XM_054371588.1 → XP_054227563.1  glutamate receptor-interacting protein 1 isoform X7

  5. XM_054371587.1 → XP_054227562.1  glutamate receptor-interacting protein 1 isoform X6

  6. XM_054371584.1 → XP_054227559.1  glutamate receptor-interacting protein 1 isoform X3

  7. XM_054371590.1 → XP_054227565.1  glutamate receptor-interacting protein 1 isoform X9

  8. XM_054371583.1 → XP_054227558.1  glutamate receptor-interacting protein 1 isoform X2

  9. XM_054371586.1 → XP_054227561.1  glutamate receptor-interacting protein 1 isoform X5

  10. XM_054371585.1 → XP_054227560.1  glutamate receptor-interacting protein 1 isoform X4

  11. XM_054371582.1 → XP_054227557.1  glutamate receptor-interacting protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3R0.3 GenPept UniProtKB/Swiss-Prot:Q9Y3R0

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