EDC4 enhancer of mRNA decapping 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDC4provided by HGNC
Official Full Name: enhancer of mRNA decapping 4provided by HGNC
Primary source: HGNC:HGNC:17157
See related: Ensembl:ENSG00000038358 MIM:606030; AllianceGenome:HGNC:17157
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: GE1; Ge-1; RCD8; HEDL5; HEDLS; RCD-8
Summary: Predicted to be involved in deadenylation-independent decapping of nuclear-transcribed mRNA. Located in P-body and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 15.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67873052..67884499)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73668825..73680272)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67906955..67918402)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Enhancer of mRNA Decapping protein 4 (EDC4) interacts with replication protein a (RPA) and contributes to Cisplatin resistance in cervical Cancer by alleviating DNA damage.
Title: Enhancer of mRNA Decapping protein 4 (EDC4) interacts with replication protein a (RPA) and contributes to Cisplatin resistance in cervical Cancer by alleviating DNA damage.
A non-canonical role for the EDC4 decapping factor in regulating MARF1-mediated mRNA decay.
Title: A non-canonical role for the EDC4 decapping factor in regulating MARF1-mediated mRNA decay.
EDC4 plays a key role in homologous recombination by stimulating end resection at double-strand breaks.
Title: Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
The assembly of EDC4 and Dcp1a into processing bodies is critical for the translational regulation of IL-6.
Title: The Assembly of EDC4 and Dcp1a into Processing Bodies Is Critical for the Translational Regulation of IL-6.
LMKB is the first protein identified to date that interacts with this portion of Ge-1. LMKB was expressed in human B and T lymphocyte cell lines; depletion of LMKB increased expression of IFI44L.
Title: LMKB/MARF1 localizes to mRNA processing bodies, interacts with Ge-1, and regulates IFI44L gene expression.
EDC4 is a processing body (P-body) component.
Title: CCHCR1 interacts with EDC4, suggesting its localization in P-bodies.
The data indicates that DCP2 activation by DCP1 occurs preferentially on the EDC4 scaffold, which may serve to couple DCP2 activation by DCP1 with 5'-to-3' mRNA degradation by XRN1 in human cells.
Title: The activation of the decapping enzyme DCP2 by DCP1 occurs on the EDC4 scaffold and involves a conserved loop in DCP1.
EDC4 might contribute to regulation of CoA biosynthesis in addition to its scaffold function in processing bodies
Title: EDC4 interacts with and regulates the dephospho-CoA kinase activity of CoA synthase.

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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

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with enhancer of mRNA decapping 4 (EDC4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60839 (e-PCR)
- UniSTS:65071

STS-N52770 (e-PCR)
- UniSTS:26763

RH79122 (e-PCR)
- UniSTS:47259

D16S3182 (e-PCR)
- UniSTS:14275

SHGC-74292 (e-PCR)
- UniSTS:3279

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in deadenylation-independent decapping of nuclear-transcribed mRNA	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in P-body	IBA Inferred from Biological aspect of Ancestor more info
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: enhancer of mRNA-decapping protein 4

Names: autoantigen Ge-1; autoantigen RCD-8; human enhancer of decapping large subunit

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.

mRNA and Protein(s)

NM_001427345.1 → NP_001414274.1 enhancer of mRNA-decapping protein 4 isoform 1

Status: VALIDATED

Source sequence(s)

AC040162

UniProtKB/TrEMBL

A0A8B0RAT7
NM_014329.5 → NP_055144.3 enhancer of mRNA-decapping protein 4 isoform 2

See identical proteins and their annotated locations for NP_055144.3

Status: VALIDATED

Source sequence(s)

BC064567, DC403765

Consensus CDS

CCDS10849.1

UniProtKB/Swiss-Prot

A6NGM1, A8K4T4, Q13025, Q13826, Q6P2E9, Q6ZR12, Q7Z6H7

Related

ENSP00000351811.5, ENST00000358933.10

Conserved Domains (3) summary

pfam16529
Location:114 → 441

Ge1_WD40; WD40 region of Ge1, enhancer of mRNA-decapping protein

sd00039
Location:180 → 219

7WD40; WD40 repeat [structural motif]

cl02567
Location:260 → 409

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...