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    ADAM9 ADAM metallopeptidase domain 9 [ Homo sapiens (human) ]

    Gene ID: 8754, updated on 9-Jul-2016
    Official Symbol
    ADAM9provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 9provided by HGNC
    Primary source
    HGNC:HGNC:216
    See related
    Ensembl:ENSG00000168615 HPRD:04091; MIM:602713; Vega:OTTHUMG00000159783
    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
    MCMP; MDC9; CORD9; Mltng
    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. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    8p11.22
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (38996771..39105261)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38854505..38962780)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A2 Neighboring gene HtrA serine peptidase 4 Neighboring gene TM2 domain containing 2 Neighboring gene ADAM metallopeptidase domain 32 Neighboring gene ribosomal protein L3 pseudogene 10 Neighboring gene lysine acetyltransferase 2B pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Collagen degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    collagen binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integrin binding IC
    Inferred by Curator
    more info
    PubMed 
    integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    laminin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase C binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    PMA-inducible membrane protein ectodomain proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of MAPKK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion mediated by integrin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adhesion mediated by integrin IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integrin-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    keratinocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane protein ectodomain proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    monocyte activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of keratinocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of macrophage fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of membrane protein ectodomain proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to glucocorticoid ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to hydrogen peroxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to manganese ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic component of external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 9
    Names
    ADAM metallopeptidase domain 9 (meltrin gamma)
    cellular disintegrin-related protein
    cone rod dystrophy 9
    metalloprotease/disintegrin/cysteine-rich protein 9
    myeloma cell metalloproteinase

    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.

    Genomic

    1. NG_016335.1 RefSeqGene

      Range
      5001..113276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003816.2NP_003807.1  disintegrin and metalloproteinase domain-containing protein 9 precursor

      See identical proteins and their annotated locations for NP_003807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein coding transcript.
      Source sequence(s)
      AV708278, U41766
      Consensus CDS
      CCDS6112.1
      UniProtKB/Swiss-Prot
      Q13443
      Related
      ENSP00000419446, OTTHUMP00000216481, ENST00000487273, OTTHUMT00000357291
      Conserved Domains (5) summary
      smart00608
      Location:500636
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:212404
      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:423498
      Disintegrin; Disintegrin
      pfam01421
      Location:212406
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:43163
      Pep_M12B_propep; Reprolysin family propeptide

    RNA

    1. NR_027638.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) omits a coding exon resulting in a frameshift and premature stop codon compared to variant 1. This suggests that the transcript is subject to nonsense-mediated decay (NMD) and therefore a predicted protein is not annotated.
      Source sequence(s)
      AC105091, AV708278, BC027996, BC126406, BC143923
      Related
      ENST00000481873, OTTHUMT00000357295
    2. NR_027639.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) omits a coding exon resulting in a frameshift and premature stop codon compared to variant 1. This suggests that the transcript is subject to nonsense-mediated decay (NMD) and therefore a predicted protein is not annotated.
      Source sequence(s)
      AC105091, AV708278, BC027996, BC143924
      Related
      ENST00000468065, OTTHUMT00000357296
    3. NR_027878.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AV708278, BC027996, BC143923
      Related
      ENST00000379917, OTTHUMT00000357297

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      38996771..39105261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544682.2XP_011542984.1  

      Conserved Domains (5) summary
      smart00608
      Location:482618
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:194386
      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:405480
      Disintegrin; Disintegrin
      pfam01421
      Location:194388
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:25145
      Pep_M12B_propep; Reprolysin family propeptide
    2. XM_017013942.1XP_016869431.1  

    RNA

    1. XR_001745616.1 RNA Sequence

    2. XR_001745618.1 RNA Sequence

    3. XR_001745617.1 RNA Sequence

    4. XR_001745615.1 RNA Sequence

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187577.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      7546..10944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      39056582..39164835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001005845.1: Suppressed sequence

      Description
      NM_001005845.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.