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

Gene ID: 26610, updated on 8-Jul-2021

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
109.20210514 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
Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
GeneReviews: Not available

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 
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)

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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_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 109.20210514

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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