Format

Send to:

Choose Destination

ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 [ Homo sapiens (human) ]

Gene ID: 9510, updated on 15-Apr-2019

Summary

Official Symbol
ADAMTS1provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 1provided by HGNC
Primary source
HGNC:HGNC:217
See related
Ensembl:ENSG00000154734 MIM:605174
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
C3-C5; METH1
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 contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
Expression
Broad expression in ovary (RPKM 126.2), placenta (RPKM 77.2) and 17 other tissues See more
Orthologs

Genomic context

See ADAMTS1 in Genome Data Viewer
Location:
21q21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (26836287..26845409, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (28208606..28217728, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene cysteine and tyrosine rich 1 antisense RNA 1 Neighboring gene uncharacterized LOC105372758 Neighboring gene uncharacterized LOC107985474 Neighboring gene cysteine and tyrosine rich 1 Neighboring gene uncharacterized LOC105372760 Neighboring gene VISTA enhancer hs1684 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 5 Neighboring gene microRNA 4759

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
heart trabecula formation IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
kidney development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
ovulation from ovarian follicle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G1/S transition of mitotic cell cycle IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of vascular associated smooth muscle cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 1
Names
ADAM-TS 1
ADAM-TS1
ADAMTS-1
METH-1
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1
human metalloproteinase with thrombospondin type 1 motifs

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.

mRNA and Protein(s)

  1. NM_006988.5NP_008919.3  A disintegrin and metalloproteinase with thrombospondin motifs 1 preproprotein

    See identical proteins and their annotated locations for NP_008919.3

    Status: REVIEWED

    Source sequence(s)
    AF207664, AK314475, AP001599
    Consensus CDS
    CCDS33524.1
    UniProtKB/Swiss-Prot
    Q9UHI8
    UniProtKB/TrEMBL
    B2RB33
    Related
    ENSP00000284984.2, ENST00000284984.8
    Conserved Domains (6) summary
    smart00209
    Location:562614
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:258463
    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:258467
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:66166
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:725842
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:468548
    ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    26836287..26845409 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center