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ADAM7 ADAM metallopeptidase domain 7 [ Homo sapiens (human) ]

Gene ID: 8756, updated on 22-Aug-2020

Summary

Official Symbol
ADAM7provided by HGNC
Official Full Name
ADAM metallopeptidase domain 7provided by HGNC
Primary source
HGNC:HGNC:214
See related
Ensembl:ENSG00000069206 MIM:607310
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
EAPI; GP83; GP-83; ADAM 7; ADAM-7
Summary
This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See ADAM7 in Genome Data Viewer
Location:
8p21.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (24441026..24509565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (24298509..24370273)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929294 Neighboring gene ADAM metallopeptidase domain 28 Neighboring gene ADAM like decysin 1 Neighboring gene uncharacterized LOC101929315 Neighboring gene uncharacterized LOC107986932 Neighboring gene uncharacterized LOC107986882

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

Phenotypes

Associated conditions

Description Tests
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
GeneReviews: Not available

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disintegrin and metalloproteinase domain-containing protein 7
Names
a disintegrin and metalloproteinase domain 7
epididymal apical protein I
epididymis secretory sperm binding protein
sperm maturation-related glycoprotein GP-83

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_003817.4NP_003808.2  disintegrin and metalloproteinase domain-containing protein 7 preproprotein

    See identical proteins and their annotated locations for NP_003808.2

    Status: REVIEWED

    Source sequence(s)
    AC024958, AK292492
    Consensus CDS
    CCDS6045.1
    UniProtKB/Swiss-Prot
    Q9H2U9
    Related
    ENSP00000175238.5, ENST00000175238.10
    Conserved Domains (4) summary
    smart00050
    Location:411485
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:488624
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:199394
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:28156
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    24441026..24509565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013943.1XP_016869432.1  disintegrin and metalloproteinase domain-containing protein 7 isoform X1

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