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ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 [ Homo sapiens (human) ]

Gene ID: 11095, updated on 26-May-2016
Official Symbol
ADAMTS8provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 8provided by HGNC
Primary source
HGNC:HGNC:224
See related
Ensembl:ENSG00000134917 HPRD:05531; MIM:605175; Vega:OTTHUMG00000165656
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
METH2; ADAM-TS8
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) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
Orthologs
Location:
11q25
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (130404923..130428644, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130274660..130298539, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 44 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 pseudogene Neighboring gene DEAD-box helicase 18 pseudogene 5 Neighboring gene uncharacterized LOC646383 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 15 Neighboring gene uncharacterized LOC105369574 Neighboring gene BCL2 antagonist/killer 1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
NHGRI GWA Catalog
  • 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...
  • 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...

Markers

Homology

Clone Names

  • FLJ41712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding TAS
Traceable Author Statement
more info
PubMed 
low-affinity phosphate transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
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
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
phosphate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 8
Names
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ADAM-TS 8
ADAMTS-8
METH-2
METH-8
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8

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_007037.5NP_008968.4  A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein

    See identical proteins and their annotated locations for NP_008968.4

    Status: REVIEWED

    Source sequence(s)
    AF060153, AP002986, BC089435, BX424609
    Consensus CDS
    CCDS41732.1
    UniProtKB/Swiss-Prot
    Q9UP79
    UniProtKB/TrEMBL
    Q5FWF1
    Related
    ENSP00000257359, OTTHUMP00000230650, ENST00000257359, OTTHUMT00000385636
    Conserved Domains (6) summary
    smart00209
    Location:529581
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:219426
    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:219429
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:39150
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:690809
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:448514
    ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    130404923..130428644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    130160628..130184367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)