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

    Gene ID: 8728, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic regulation of the dendritic cell-marker gene ADAM19. Ehrnsperger A, et al. Biochem Biophys Res Commun, 2005 Jul 1. PMID 15896713
    2. Role of microRNA-30c targeting ADAM19 in colorectal cancer. Zhang Q, et al. PLoS One, 2015. PMID 25799050, Free PMC Article
    3. Inhibitory antibodies against endopeptidase activity of human adamalysin 19. Zhao YG, et al. Biochem Biophys Res Commun, 2001 Nov 23. PMID 11708814
    4. Genetic and cellular studies highlight that A Disintegrin and Metalloproteinase 19 is a protective biomarker in human prostate cancer. Hoyne G, et al. BMC Cancer, 2016 Feb 24. PMID 26912236, Free PMC Article
    5. Metalloproteinase disintegrins ADAM8 and ADAM19 are highly regulated in human primary brain tumors and their expression levels and activities are associated with invasiveness. Wildeboer D, et al. J Neuropathol Exp Neurol, 2006 May. PMID 16772875

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.
      Title: ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.
    2. Human umbilical cord mesenchymal stem cell-derived exosomal miR-335-5p attenuates the inflammation and tubular epithelial-myofibroblast transdifferentiation of renal tubular epithelial cells by reducing ADAM19 protein levels.
      Title: Human umbilical cord mesenchymal stem cell-derived exosomal miR-335-5p attenuates the inflammation and tubular epithelial-myofibroblast transdifferentiation of renal tubular epithelial cells by reducing ADAM19 protein levels.
    3. MiR-874-3p suppresses cell proliferation and invasion by targeting ADAM19 in nasopharyngeal carcinoma.
      Title: MiR-874-3p suppresses cell proliferation and invasion by targeting ADAM19 in nasopharyngeal carcinoma.
    4. Synovial mesenchymal stem cell-derived exosomal miR-320c enhances chondrogenesis by targeting ADAM19.
      Title: Synovial mesenchymal stem cell-derived exosomal miR-320c enhances chondrogenesis by targeting ADAM19.
    5. MicroRNA-874-3p/ADAM (A Disintegrin and Metalloprotease) 19 Mediates Macrophage Activation and Renal Fibrosis After Acute Kidney Injury.
      Title: MicroRNA-874-3p/ADAM (A Disintegrin and Metalloprotease) 19 Mediates Macrophage Activation and Renal Fibrosis After Acute Kidney Injury.
    6. Comparison of ADAM19 and CUEDC2 expression in EHCC and their clinicopathological significance.
      Title: Comparison of ADAM19 and CUEDC2 expression in EHCC and their clinicopathological significance.
    7. The elevated transcription of ADAM19 by the oncohistone H2BE76K contributes to oncogenic properties in breast cancer.
      Title: The elevated transcription of ADAM19 by the oncohistone H2BE76K contributes to oncogenic properties in breast cancer.
    8. Circular RNA has_circ_0000034 accelerates retinoblastoma advancement through the miR-361-3p/ADAM19 axis.
      Title: Circular RNA has_circ_0000034 accelerates retinoblastoma advancement through the miR-361-3p/ADAM19 axis.
    9. ADAM19 hypermethylation was associated with more advanced gastric neoplasm (GC) as stage IV.
      Title: Analysis of the clinical significance of DNA methylation in gastric cancer based on a genome-wide high-resolution array.
    10. 3 SNPs (rs4329505 and rs4845626 in interleukin 6 receptor [IL6R] and rs1422794 in a disintegrin and metalloproteinase domain 19 [ADAM19]) were associated with a lower risk of suffering the most severe stages of the disease.
      Title: Genetic Variants in IL6R and ADAM19 are Associated with COPD Severity in a Mexican Mestizo Population.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    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
    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

    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 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 
    Process Evidence Code Pubs
    involved_in amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in placenta development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in positive regulation of cell-cell adhesion mediated by cadherin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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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.

    Genomic

    1. NG_046960.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_033274.5 → NP_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:439 → 499
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:501 → 646
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:210 → 406
      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:210 → 408
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:58 → 161
      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_047417859.1 → XP_047273815.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

    2. XM_047417858.1 → XP_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_054353740.1 → XP_054209715.1  disintegrin and metalloproteinase domain-containing protein 19 isoform X2

    2. XM_054353739.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H013.3 GenPept UniProtKB/Swiss-Prot:Q9H013

    Gene LinkOut

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

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