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ADAM30 ADAM metallopeptidase domain 30 [ Homo sapiens (human) ]

Gene ID: 11085, updated on 8-Jul-2021

Summary

Official Symbol
ADAM30provided by HGNC
Official Full Name
ADAM metallopeptidase domain 30provided by HGNC
Primary source
HGNC:HGNC:208
See related
Ensembl:ENSG00000134249 MIM:604779
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
svph4
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See ADAM30 in Genome Data Viewer
Location:
1p12
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119893533..119896515, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120436156..120439138, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene profilin 1 pseudogene 9 Neighboring gene notch 2 pseudogene 1 Neighboring gene notch receptor 2 Neighboring gene Sharpr-MPRA regulatory region 11377/13297 Neighboring gene negCOR silencer S9

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
enables zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in sperm head plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disintegrin and metalloproteinase domain-containing protein 30
Names
a disintegrin and metalloproteinase domain 30

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)

  1. NM_021794.4NP_068566.2  disintegrin and metalloproteinase domain-containing protein 30 preproprotein

    See identical proteins and their annotated locations for NP_068566.2

    Status: REVIEWED

    Source sequence(s)
    AL359752, BC028372
    Consensus CDS
    CCDS907.1
    UniProtKB/Swiss-Prot
    Q9UKF2
    UniProtKB/TrEMBL
    Q8TBZ7
    Related
    ENSP00000358407.1, ENST00000369400.2
    Conserved Domains (5) summary
    smart00608
    Location:484626
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:203391
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:408481
    Disintegrin; Disintegrin
    pfam01421
    Location:203393
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60159
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    119893533..119896515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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