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ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 [ Homo sapiens (human) ]

Gene ID: 81792, updated on 19-Jul-2021

Summary

Official Symbol
ADAMTS12provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 12provided by HGNC
Primary source
HGNC:HGNC:14605
See related
Ensembl:ENSG00000151388 MIM:606184
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
PRO4389
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 3.5), gall bladder (RPKM 2.0) and 19 other tissues See more
Orthologs
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Genomic context

See ADAMTS12 in Genome Data Viewer
Location:
5p13.3-p13.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (33523535..33892180, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33523640..33892095, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374717 Neighboring gene TOMM40 pseudogene 3 Neighboring gene ST3GAL5 pseudogene 1 Neighboring gene RNA, U6 small nuclear 923, pseudogene Neighboring gene solute carrier family 45 member 2 Neighboring gene relaxin family peptide receptor 3 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 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
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
GeneReviews: Not available
Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to BMP stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to interleukin-1 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to tumor necrosis factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of cellular response to hepatocyte growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hepatocyte growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteoglycan catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteolysis involved in cellular protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteolysis involved in cellular protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of endothelial tube morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 12
Names
ADAM-TS 12
ADAM-TS12
ADAMTS-12
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12

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_001324511.2NP_001311440.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2. The encoded isoform (2) lacks the furin cleavage site, a portion of the propeptide and most conserved domains compared to isoform 1.
    Source sequence(s)
    AC008880, BC139900, BG108002, BQ774480, N93301
    Consensus CDS
    CCDS87292.1
    UniProtKB/Swiss-Prot
    P58397
    UniProtKB/TrEMBL
    D6REX0
    Related
    ENSP00000421638.1, ENST00000515401.1
    Conserved Domains (1) summary
    pfam01562
    Location:53195
    Pep_M12B_propep; Reprolysin family propeptide
  2. NM_001324512.2NP_001311441.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3. The encoded isoform (3) may undergo proteolytic processing.
    Source sequence(s)
    AC034232, BC131733, BG108002, CA413137
    Consensus CDS
    CCDS87293.1
    UniProtKB/Swiss-Prot
    P58397
    Related
    ENSP00000344847.3, ENST00000352040.7
  3. NM_030955.4NP_112217.2  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_112217.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC034232, AJ250725, AW938686, AY358745, BC058841, CA413137
    Consensus CDS
    CCDS34140.1
    UniProtKB/Swiss-Prot
    P58397
    Related
    ENSP00000422554.1, ENST00000504830.6
    Conserved Domains (6) summary
    smart00209
    Location:545596
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:246453
    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:246456
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:80194
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:702813
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:515676
    ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    33523535..33892180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009905.1XP_016865394.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X1

  2. XM_017009906.1XP_016865395.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X2

  3. XM_017009907.1XP_016865396.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X3

  4. XM_017009908.1XP_016865397.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X4

  5. XM_017009909.1XP_016865398.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X5

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187551.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    82443..93312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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