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    ELP4 elongator acetyltransferase complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 26610, updated on 5-Jan-2022

    Summary

    Official Symbol
    ELP4provided by HGNC
    Official Full Name
    elongator acetyltransferase complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:1171
    See related
    Ensembl:ENSG00000109911 MIM:606985
    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
    AN; AN2; hELP4; PAXNEB; PAX6NEB; C11orf19; dJ68P15A.1
    Summary
    This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 4.9), brain (RPKM 4.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ELP4 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (31509767..31790324)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31531314..31811872)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene E60 enhancer downstream of PAX6 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene paired box 6

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Aniridia 2
    MedGen: C0344543 OMIM: 617141 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20498

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphorylase kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 
    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 
    part_of elongator holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of transcription elongation factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    elongator complex protein 4
    Names
    PAX6 neighbor gene protein
    elongation protein 4 homolog

    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.

    Genomic

    1. NG_034086.1 RefSeqGene

      Range
      5001..279797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288725.2NP_001275654.1  elongator complex protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001275654.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK000505, AK304885, AL136677, BF969161, BM680240, BQ083338, D59285, Z83307
      Consensus CDS
      CCDS73271.1
      UniProtKB/Swiss-Prot
      Q96EB1
      Related
      ENSP00000368461.5, ENST00000379163.10
      Conserved Domains (1) summary
      pfam05625
      Location:28382
      PAXNEB; PAXNEB protein
    2. NM_001288726.2NP_001275655.1  elongator complex protein 4 isoform 3

      See identical proteins and their annotated locations for NP_001275655.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC131571, AK000505, BC012514, BF969161, BM680240, BQ083338, D59285, Z83307
      Consensus CDS
      CCDS73272.1
      UniProtKB/Swiss-Prot
      Q96EB1
      UniProtKB/TrEMBL
      G5E9D4
      Related
      ENSP00000379267.2, ENST00000395934.2
      Conserved Domains (1) summary
      pfam05625
      Location:28416
      PAXNEB; PAXNEB protein
    3. NM_019040.5NP_061913.3  elongator complex protein 4 isoform 1

      See identical proteins and their annotated locations for NP_061913.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest protein.
      Source sequence(s)
      AK000505, BF969161, BM680240, BQ083338, D59285, Z83307
      Consensus CDS
      CCDS7875.2
      UniProtKB/Swiss-Prot
      Q96EB1
      Related
      ENSP00000492152.1, ENST00000640961.2
      Conserved Domains (1) summary
      pfam05625
      Location:28423
      PAXNEB; PAXNEB protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      31509767..31790324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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