EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EEPD1provided by HGNC
Official Full Name: endonuclease/exonuclease/phosphatase family domain containing 1provided by HGNC
Primary source: HGNC:HGNC:22223
See related: Ensembl:ENSG00000122547 MIM:617192; AllianceGenome:HGNC:22223
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: HSPC107
Summary: Predicted to enable DNA binding activity. Involved in positive regulation of cholesterol efflux. Is anchored component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 7.4), brain (RPKM 4.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (36153254..36301538)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (36294234..36442799)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (36192863..36341147)

Chromosome 7 - NC_000007.14 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?

Super-enhancer-associated EEPD1 facilitates EMT-mediated metastasis by regulating the PI3K/AKT/mTOR pathway in gastric cancer.
Title: Super-enhancer-associated EEPD1 facilitates EMT-mediated metastasis by regulating the PI3K/AKT/mTOR pathway in gastric cancer.
The mechanism by which RAD52 depletion causes synthetic lethality in BRCA1 mutant cancer cells depends on the 5' endonuclease EEPD1, which normally functions to cleave stressed replication forks to initiate HR repair.
Title: The endonuclease EEPD1 mediates synthetic lethality in RAD52-depleted BRCA1 mutant breast cancer cells.
EEPD1 performs a gatekeeper function for replication fork repair by mediating the fork cleavage that permits initiation of HR-mediated repair and restart of stressed forks
Title: Endonuclease EEPD1 Is a Gatekeeper for Repair of Stressed Replication Forks.
EEPD1 is a novel LXR-regulated gene in macrophages and that it promotes cellular cholesterol efflux by controlling cellular levels and activity of ABCA1.
Title: EEPD1 Is a Novel LXR Target Gene in Macrophages Which Regulates ABCA1 Abundance and Cholesterol Efflux.
These data demonstrate that genome stability during replication stress is maintained by EEPD1, which initiates HR and inhibits cNHEJ and MMEJ.
Title: EEPD1 Rescues Stressed Replication Forks and Maintains Genome Stability by Promoting End Resection and Homologous Recombination Repair.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

RH41961 (e-PCR)
- UniSTS:527

A007H36 (e-PCR)
- UniSTS:5408

D7S2384E (e-PCR)
- UniSTS:153919

A005Z10 (e-PCR)
- UniSTS:24209

GDB:1317152 (e-PCR)
- UniSTS:81571

SHGC-56042 (e-PCR)
- UniSTS:82869

D7S2251 (e-PCR)
- UniSTS:34761

GDB:1318154 (e-PCR)
- UniSTS:21964

D7S2251 (e-PCR)
- UniSTS:51167

SHGC-172301 (e-PCR)
- UniSTS:183010

D7S1422 (e-PCR)
- UniSTS:78835

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: endonuclease/exonuclease/phosphatase family domain-containing protein 1

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_030636.3 → NP_085139.2 endonuclease/exonuclease/phosphatase family domain-containing protein 1

See identical proteins and their annotated locations for NP_085139.2

Status: VALIDATED

Source sequence(s)

AC007327, AK027386, DN998549

Consensus CDS

CCDS34619.1

UniProtKB/Swiss-Prot

Q7L9B9, Q96K64, Q9C0F7

Related

ENSP00000242108.4, ENST00000242108.9

Conserved Domains (4) summary

cd10283
Location:261 → 538

MnuA_DNase1-like; Mycoplasma pulmonis MnuA nuclease-like

TIGR01259
Location:69 → 195

comE; comEA protein

COG1555
Location:31 → 100

ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]

pfam12836
Location:37 → 95

HHH_3; Helix-hairpin-helix motif