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

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; AllianceGenome:HGNC:214
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: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (24441026..24509565)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (24716154..24784481)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (24298539..24367078)

Chromosome 8 - NC_000008.11 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 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?

ADAM7 promotes the proliferation and invasion in trophoblast cells.
Title: ADAM7 promotes the proliferation and invasion in trophoblast cells.
mutated ADAM27 and ADAM7 genes could play a role in melanoma progression.
Title: Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.

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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
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. 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

TTA024 (e-PCR)
- UniSTS:498594

D8S481 (e-PCR)
- UniSTS:81618

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in epididymis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sperm capacitation	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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_003817.4 → NP_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

A8K8X7, O75959, Q6PEJ6, Q9H2U9

UniProtKB/TrEMBL

A0A384MTL6, C9JK28

Related

ENSP00000175238.5, ENST00000175238.10

Conserved Domains (4) summary

smart00050
Location:411 → 485

DISIN; Homologues of snake disintegrins

smart00608
Location:488 → 624

ACR; ADAM Cysteine-Rich Domain

pfam01421
Location:199 → 394

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:28 → 156

Pep_M12B_propep; Reprolysin family propeptide