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

Gene ID: 11085, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:208
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

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See ADAM30 in Genome Data Viewer
Location:
1p12
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119893533..119896515, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119906790..119909772, complement)
105.20220307 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 Sharpr-MPRA regulatory region 12070 Neighboring gene profilin 1 pseudogene 9 Neighboring gene notch 2 pseudogene 1 Neighboring gene notch receptor 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:120478863-120479588 Neighboring gene Sharpr-MPRA regulatory region 11377/13297 Neighboring gene negCOR silencer S9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:120584275-120584776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:120584777-120585276 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120601566-120602248 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120602249-120602930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120604007-120604544 Neighboring gene uncharacterized LOC101929178

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease. Letronne F, et al. EBioMedicine, 2016 Jul. PMID 27333034, Free PMC Article
  2. Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression. Cerretti DP, et al. Biochem Biophys Res Commun, 1999 Oct 5. PMID 10512762
  3. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. Hu C, et al. PLoS One, 2009 Oct 28. PMID 19862325, Free PMC Article
  4. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Lango H, et al. Diabetes, 2008 Nov. PMID 18591388, Free PMC Article
  5. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Zeggini E, et al. Nat Genet, 2008 May. PMID 18372903, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of a biologically inactive ADAM30 mutation did not affect amyloid beta proteins secretion.
    Title: ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
  3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
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
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
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 male gonad development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in sperm head 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 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_021794.4 → NP_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
    A8K8W8, Q5T3X6, Q9UKF1, Q9UKF2
    UniProtKB/TrEMBL
    Q8TBZ7
    Related
    ENSP00000358407.1, ENST00000369400.2
    Conserved Domains (5) summary
    smart00608
    Location:484 → 626
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:203 → 391
    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:408 → 481
    Disintegrin; Disintegrin
    pfam01421
    Location:203 → 393
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:60 → 159
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    119906790..119909772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKF2.2 GenPept UniProtKB/Swiss-Prot:Q9UKF2

Gene LinkOut

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