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    ELP3 elongator acetyltransferase complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 55140, updated on 8-Jul-2021

    Summary

    Official Symbol
    ELP3provided by HGNC
    Official Full Name
    elongator acetyltransferase complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:20696
    See related
    Ensembl:ENSG00000134014 MIM:612722
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAT9
    Summary
    ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
    Expression
    Ubiquitous expression in brain (RPKM 10.1), endometrium (RPKM 9.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ELP3 in Genome Data Viewer
    Location:
    8p21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (28090232..28191153)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27947749..28048670)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class A member 5 Neighboring gene uncharacterized LOC105379342 Neighboring gene nuclear GTPase, germinal center associated Neighboring gene uncharacterized LOC105379343 Neighboring gene delta 4-desaturase, sphingolipid 1 pseudogene Neighboring gene PDZ and LIM domain 7 (enigma) pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10422

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables N-acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphorylase kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tRNA uridine(34) acetyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in tRNA wobble uridine modification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of elongator holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of elongator holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    elongator complex protein 3
    Names
    elongation protein 3 homolog
    protein lysine acetyltransferase ELP3
    tRNA uridine(34) acetyltransferase
    NP_001271149.1
    NP_001271151.1
    NP_001271153.1
    NP_001271154.1
    NP_001271155.1
    NP_060561.3
    XP_006716417.1
    XP_016869093.1
    XP_024302952.1
    XP_024302953.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001284220.2NP_001271149.1  elongator complex protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001271149.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC019031, AC021678, AK296475, BU683531
      Consensus CDS
      CCDS75718.1
      UniProtKB/TrEMBL
      B4DKA4
      Related
      ENSP00000429180.1, ENST00000524103.5
      Conserved Domains (3) summary
      cd01335
      Location:24268
      Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
      COG1243
      Location:1474
      ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
      pfam16199
      Location:242320
      Radical_SAM_C; Radical_SAM C-terminal domain
    2. NM_001284222.2NP_001271151.1  elongator complex protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC019031, AC021678, BU683531, BX648011, DA877844
      Consensus CDS
      CCDS75717.1
      UniProtKB/Swiss-Prot
      Q9H9T3
      Related
      ENSP00000428449.1, ENST00000521015.5
      Conserved Domains (1) summary
      cl25699
      Location:22532
      Radical_SAM_C; Radical_SAM C-terminal domain
    3. NM_001284224.2NP_001271153.1  elongator complex protein 3 isoform 4

      See identical proteins and their annotated locations for NP_001271153.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC019031, AC021678, AK302140, BU683531
      Consensus CDS
      CCDS64861.1
      UniProtKB/Swiss-Prot
      Q9H9T3
      UniProtKB/TrEMBL
      B4DXV1
      Conserved Domains (1) summary
      COG1243
      Location:13427
      ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
    4. NM_001284225.2NP_001271154.1  elongator complex protein 3 isoform 4

      See identical proteins and their annotated locations for NP_001271154.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform 1. Variants 4 and 5 encode the same isoform (5).
      Source sequence(s)
      AC019031, AC021678, AK293424, BU683531
      Consensus CDS
      CCDS64861.1
      UniProtKB/Swiss-Prot
      Q9H9T3
      Related
      ENSP00000445558.1, ENST00000537665.2
      Conserved Domains (1) summary
      COG1243
      Location:13427
      ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
    5. NM_001284226.2NP_001271155.1  elongator complex protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001271155.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (6) with a shorter N-terminus, compared to isoform 1
      Source sequence(s)
      AC021678, AK295574, BU683531
      Consensus CDS
      CCDS64860.1
      UniProtKB/Swiss-Prot
      Q9H9T3
      Related
      ENSP00000369711.4, ENST00000380353.8
      Conserved Domains (1) summary
      cl25699
      Location:1454
      Radical_SAM_C; Radical_SAM C-terminal domain
    6. NM_018091.6NP_060561.3  elongator complex protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060561.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL834273, BM663362, DA150994
      Consensus CDS
      CCDS6065.1
      UniProtKB/Swiss-Prot
      Q9H9T3
      Related
      ENSP00000256398.8, ENST00000256398.13
      Conserved Domains (1) summary
      TIGR01211
      Location:36546
      ELP3; radical SAM enzyme/protein acetyltransferase, ELP3 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      28090232..28191153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447184.1XP_024302952.1  elongator complex protein 3 isoform X2

      Conserved Domains (1) summary
      cl25699
      Location:22532
      Radical_SAM_C; Radical_SAM C-terminal domain
    2. XM_024447185.1XP_024302953.1  elongator complex protein 3 isoform X3

      Conserved Domains (1) summary
      cl25699
      Location:2463
      Radical_SAM_C; Radical_SAM C-terminal domain
    3. XM_017013604.2XP_016869093.1  elongator complex protein 3 isoform X1

    4. XM_006716354.3XP_006716417.1  elongator complex protein 3 isoform X4

      See identical proteins and their annotated locations for XP_006716417.1

      UniProtKB/Swiss-Prot
      Q9H9T3
      Conserved Domains (1) summary
      COG1243
      Location:13427
      ELP3; Histone acetyltransferase, component of the RNA polymerase elongator complex [Transcription, Chromatin structure and dynamics]
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