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ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 [ Homo sapiens (human) ]

Gene ID: 171019, updated on 17-Jun-2024

Summary

Official Symbol
ADAMTS19provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 19provided by HGNC
Primary source
HGNC:HGNC:17111
See related
Ensembl:ENSG00000145808 MIM:607513; AllianceGenome:HGNC:17111
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
CVDP2
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
Expression
Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 other tissues See more
Orthologs
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Genomic context

See ADAMTS19 in Genome Data Viewer
Location:
5q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129460298..129738683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (129978934..130257460)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (128795991..129074376)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723654 Neighboring gene uncharacterized LOC105379169 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80935 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128733796-128734784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128746164-128746707 Neighboring gene NANOG hESC enhancer GRCh37_chr5:128784412-128784978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:128794950-128795912 Neighboring gene ADAMTS19 antisense RNA 1 Neighboring gene microRNA 4460 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129004984-129005522 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129103445-129103946 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:129107197-129107750 Neighboring gene membrane integral NOTCH2 associated receptor 2 Neighboring gene uncharacterized LOC112267944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16299 Neighboring gene chondroitin sulfate synthase 3

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
Cardiac valvular dysplasia 2
MedGen: C5774226 OMIM: 620067 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of ADAM metallopeptidase with thrombospondin type 1 motif 19 protein (ADAMTS19) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ16042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitral valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tricuspid valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 19
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

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.

mRNA and Protein(s)

  1. NM_133638.6NP_598377.4  A disintegrin and metalloproteinase with thrombospondin motifs 19

    Status: REVIEWED

    Source sequence(s)
    AC008425, AC008528, AC008591, AC106781, AC129713
    Consensus CDS
    CCDS4146.2
    UniProtKB/Swiss-Prot
    Q8TE59
    UniProtKB/TrEMBL
    A0A1X7SBR9
    Related
    ENSP00000274487.5, ENST00000274487.9

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
    129460298..129738683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416876.1XP_047272832.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X1

    UniProtKB/Swiss-Prot
    Q8TE59
  2. XM_047416878.1XP_047272834.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X3

    UniProtKB/Swiss-Prot
    Q8TE59
  3. XM_047416877.1XP_047272833.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X2

    UniProtKB/Swiss-Prot
    Q8TE59
  4. XM_011543246.3XP_011541548.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X4

    UniProtKB/Swiss-Prot
    Q8TE59
    Conserved Domains (5) summary
    smart00209
    Location:403452
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:87304
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam01421
    Location:89305
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam05986
    Location:556677
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:948973
    PLAC; PLAC (protease and lacunin) domain
  5. XM_047416880.1XP_047272836.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X6

    UniProtKB/Swiss-Prot
    Q8TE59
  6. XM_047416879.1XP_047272835.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X5

    UniProtKB/Swiss-Prot
    Q8TE59
  7. XM_047416881.1XP_047272837.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X7

    UniProtKB/Swiss-Prot
    Q8TE59
  8. XM_017009174.2XP_016864663.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X8

  9. XM_047416883.1XP_047272839.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X9

  10. XM_011543249.3XP_011541551.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X10

    Conserved Domains (4) summary
    smart00209
    Location:199248
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:352473
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:744769
    PLAC; PLAC (protease and lacunin) domain
    cl00064
    Location:6100
    ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

RNA

  1. XR_007058587.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    129978934..130257460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351926.1XP_054207901.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X1

    UniProtKB/Swiss-Prot
    Q8TE59
  2. XM_054351928.1XP_054207903.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X3

    UniProtKB/Swiss-Prot
    Q8TE59
  3. XM_054351927.1XP_054207902.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X2

    UniProtKB/Swiss-Prot
    Q8TE59
  4. XM_054351929.1XP_054207904.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X4

    UniProtKB/Swiss-Prot
    Q8TE59
  5. XM_054351931.1XP_054207906.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X6

    UniProtKB/Swiss-Prot
    Q8TE59
  6. XM_054351930.1XP_054207905.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X5

    UniProtKB/Swiss-Prot
    Q8TE59
  7. XM_054351932.1XP_054207907.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X7

    UniProtKB/Swiss-Prot
    Q8TE59
  8. XM_054351933.1XP_054207908.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X8

  9. XM_054351934.1XP_054207909.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X9

  10. XM_054351935.1XP_054207910.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X10

RNA

  1. XR_008487092.1 RNA Sequence