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

Gene ID: 8728, updated on 3-Apr-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
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Genomic context

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Location:
5q33.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157477304..157575775, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157996322..158094808, complement)
105.20220307 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. MicroRNA-874-3p/ADAM (A Disintegrin and Metalloprotease) 19 Mediates Macrophage Activation and Renal Fibrosis After Acute Kidney Injury. Wang J, et al. Hypertension, 2021 May 5. PMID 33775119
  2. The elevated transcription of ADAM19 by the oncohistone H2BE76K contributes to oncogenic properties in breast cancer. Kang TZE, et al. J Biol Chem, 2021 Jan-Jun. PMID 33548228, Free PMC Article
  3. 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
  4. Role of microRNA-30c targeting ADAM19 in colorectal cancer. Zhang Q, et al. PLoS One, 2015. PMID 25799050, Free PMC Article
  5. Aberrant transforming growth factor beta1 signaling and SMAD4 nuclear translocation confer epigenetic repression of ADAM19 in ovarian cancer. Chan MW, et al. Neoplasia, 2008 Sep. PMID 18714391, Free PMC Article

See all (55) 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)

Genotypes

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_2023_10

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

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