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

    Gene ID: 11085, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119893533..119896515, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119906790..119909772, complement)
    RS_2024_09 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 (15) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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