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

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; AllianceGenome:HGNC:1171
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: mouse all
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Genomic context

Location:: 11p13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (31509767..31790324)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (31645605..31926139)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (31531314..31811872)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELP4 rs986527 polymorphism affected the incidence of clinical symptoms and the levels of TNF-alpha and IL-1beta in patients with intracranial Arachnoid Cysts.
Title: Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst.
Elongator activated migration and invasion of hepatocellular carcinoma cells by promoting the expression of MMP-2 and MMP-9 through the PI3K/AKT signaling pathway
Title: Elongator promotes the migration and invasion of hepatocellular carcinoma cell by the phosphorylation of AKT.
Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy.
Title: Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Results show no difference in BDNF and ELP4 genotype frequencies between benign epilepsy with centrotemporal spikes patients and controls; haplotype analysis also revealed no statistical difference
Title: Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.
No association of SNPs in the ELP4 gene was detected in rolandic epilepsy patients.
Title: Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Data suggest that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders.
Title: Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

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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
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC17648P1 (e-PCR)
- UniSTS:271642

G60437 (e-PCR)
- UniSTS:137543

D11S995 (e-PCR)
- UniSTS:148560

D11S2335 (e-PCR)
- UniSTS:79955

RH121745 (e-PCR)
- UniSTS:134489

STS-T88830 (e-PCR)
- UniSTS:4983

D11S1170 (e-PCR)
- UniSTS:35707

RH123953 (e-PCR)
- UniSTS:136089

AFM206xb2 (e-PCR)
- UniSTS:21146

D11S4662 (e-PCR)
- UniSTS:81594

RH118706 (e-PCR)
- UniSTS:138208

D11S1322 (e-PCR), detects polymorphism
- UniSTS:59875

RH35880 (e-PCR)
- UniSTS:58852

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

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in regulation of translation	NAS Non-traceable Author Statement more info	PubMed
involved_in tRNA wobble uridine modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	NAS Non-traceable Author Statement more info	PubMed
involved_in transcription elongation by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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
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
part_of transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_034086.2 RefSeqGene

Range

5002..285559

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001288725.2 → NP_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/TrEMBL

A0A1W2PRF5

Related

ENSP00000368461.5, ENST00000379163.10

Conserved Domains (1) summary

pfam05625
Location:28 → 382

PAXNEB; PAXNEB protein
NM_001288726.2 → NP_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/TrEMBL

B1B1I7, G5E9D4

Related

ENSP00000379267.2, ENST00000395934.2

Conserved Domains (1) summary

pfam05625
Location:28 → 416

PAXNEB; PAXNEB protein
NM_019040.5 → NP_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

B4E3W0, E7EPZ6, Q96EB1, Q9H4E8, Q9NX11

UniProtKB/TrEMBL

A0A1X7SBS0

Related

ENSP00000492152.1, ENST00000640961.2

Conserved Domains (1) summary

pfam05625
Location:28 → 423

PAXNEB; PAXNEB protein