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    ADAM19 ADAM metallopeptidase domain 19 [ Homo sapiens (human) ]

    Gene ID: 8728, updated on 4-Jun-2017
    Official Symbol
    ADAM19provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 19provided by HGNC
    Primary source
    HGNC:HGNC:197
    See related
    Ensembl:ENSG00000135074 MIM:603640; Vega:OTTHUMG00000130242
    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
    MLTNB; FKSG34; MADDAM
    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 member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    5q33.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (157477304..157575823, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156822071..157002831, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724404 Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene NIPA like domain containing 4 Neighboring gene RNA, U6 small nuclear 390, pseudogene Neighboring gene uncharacterized LOC105377675 Neighboring gene SRY-box 30

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    NHGRI GWA Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    NHGRI GWA Catalog
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    NHGRI GWA Catalog
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    membrane protein ectodomain proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 19
    Names
    ADAM 19
    a disintegrin and metalloproteinase domain 19 (meltrin beta)
    meltrin-beta
    metalloprotease and disintegrin dendritic antigen marker
    metalloprotease-disintegrin meltrin beta

    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_046960.1 RefSeqGene

      Range
      5001..103520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033274.4NP_150377.1  disintegrin and metalloproteinase domain-containing protein 19 preproprotein

      See identical proteins and their annotated locations for NP_150377.1

      Status: REVIEWED

      Source sequence(s)
      AC008676, AF311317, AK308182, BC024214, HY088077
      Consensus CDS
      CCDS4338.1
      UniProtKB/Swiss-Prot
      Q9H013
      UniProtKB/TrEMBL
      Q8TBU7
      Related
      ENSP00000257527.4, OTTHUMP00000160734, ENST00000257527.8, OTTHUMT00000252566
      Conserved Domains (5) summary
      smart00050
      Location:439499
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:501646
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:210406
      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. ...
      pfam01421
      Location:210408
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:58161
      Pep_M12B_propep; Reprolysin family propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      157477304..157575823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010009.1XP_016865498.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

      Conserved Domains (3) summary
      smart00050
      Location:172232
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:234379
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:2139
      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. ...
    2. XM_011534682.2XP_011532984.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

      See identical proteins and their annotated locations for XP_011532984.1

      Conserved Domains (3) summary
      smart00050
      Location:172232
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:234379
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:2139
      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. ...
    3. XM_005266003.2XP_005266060.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X1

      See identical proteins and their annotated locations for XP_005266060.1

      UniProtKB/Swiss-Prot
      Q9H013
      Related
      ENSP00000428654.1, OTTHUMP00000224162, ENST00000517905.1, OTTHUMT00000373918
      Conserved Domains (5) summary
      smart00050
      Location:439499
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:501646
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:210406
      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. ...
      pfam01421
      Location:210408
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:58161
      Pep_M12B_propep; Reprolysin family propeptide

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      156337034..156435579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_023038.3: Suppressed sequence

      Description
      NM_023038.3: This RefSeq was permanently suppressed because currently there is insufficient support for this transcript.
    Support Center