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

Gene ID: 80820, updated on 21-Dec-2019

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
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
Expression
Ubiquitous expression in fat (RPKM 7.4), brain (RPKM 4.8) and 23 other tissues See more
Orthologs

Genomic context

See EEPD1 in Genome Data Viewer
Location:
7p14.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (36153252..36301538)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36192836..36341152)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 13 Neighboring gene microtubule affinity regulating kinase 2 pseudogene 7 Neighboring gene KIAA0895 Neighboring gene anillin actin binding protein Neighboring gene NFE2L2 motif-containing MPRA enhancer 148 Neighboring gene acyloxyacyl hydrolase

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1706

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_030636.3NP_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
    Related
    ENSP00000242108.4, ENST00000242108.9
    Conserved Domains (4) summary
    cd10283
    Location:261538
    MnuA_DNase1-like; Mycoplasma pulmonis MnuA nuclease-like
    TIGR01259
    Location:69195
    comE; comEA protein
    COG1555
    Location:31100
    ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
    pfam12836
    Location:3795
    HHH_3; Helix-hairpin-helix motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    36153252..36301538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012658.2XP_016868147.1  endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform X2

  2. XM_017012657.2XP_016868146.1  endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform X1

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