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

Gene ID: 8728, updated on 24-Nov-2020

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
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

Genomic context

See ADAM19 in Genome Data Viewer
Location:
5q33.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (157477304..157575775, 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 Sharpr-MPRA regulatory region 8057 Neighboring gene SRY-box transcription factor 30

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloendopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization TAS
Traceable Author Statement
more info
 
membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
placenta development IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of cell-cell adhesion mediated by cadherin IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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)

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
    ENSP00000257527.4, ENST00000257527.8
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157477304..157575775 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. ...

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.
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