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

    Gene ID: 8728, updated on 27-Dec-2024

    Summary

    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; AllianceGenome:HGNC:197
    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]
    Expression
    Broad expression in lymph node (RPKM 12.3), appendix (RPKM 11.1) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAM19 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157477304..157575775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157996322..158094808, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156904312..157002783, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NIPAL4 divergent transcript Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:156905935-156906445 Neighboring gene NIPA like domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156913469-156913969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:156923503-156924004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:156951101-156951600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23521 Neighboring gene Sharpr-MPRA regulatory region 5046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157001479-157002008 Neighboring gene uncharacterized LOC124901121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157004182-157004797 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157004798-157005414 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157005415-157006029 Neighboring gene RNA, U6 small nuclear 390, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23527 Neighboring gene uncharacterized LOC105377675 Neighboring gene Sharpr-MPRA regulatory region 8057 Neighboring gene SRY-box transcription factor 30

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metalloendopeptidase activity involved in amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 19
    Names
    a disintegrin and metalloproteinase domain 19 (meltrin beta)
    metalloprotease and disintegrin dendritic antigen marker
    metalloprotease-disintegrin meltrin beta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5049..103520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033274.5NP_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
      Consensus CDS
      CCDS4338.1
      UniProtKB/Swiss-Prot
      Q9H013
      UniProtKB/TrEMBL
      Q8TBU7
      Related
      ENSP00000257527.5, ENST00000257527.9
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157477304..157575775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417859.1XP_047273815.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

      UniProtKB/TrEMBL
      B3KRF5
    2. XM_047417858.1XP_047273814.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X1

      UniProtKB/Swiss-Prot
      Q9BZL5, Q9H013, Q9UHP2
      Related
      ENSP00000428654.1, ENST00000517905.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      157996322..158094808 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353740.1XP_054209715.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

      UniProtKB/TrEMBL
      B3KRF5
    2. XM_054353739.1XP_054209714.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X1

      UniProtKB/Swiss-Prot
      Q9BZL5, Q9H013, Q9UHP2

    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.