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

Gene ID: 11095, updated on 9-Jun-2020

Summary

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 MIM:605175
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]
Expression
Biased expression in lung (RPKM 12.6), appendix (RPKM 7.0) and 8 other tissues See more
Orthologs

Genomic context

See ADAMTS8 in Genome Data Viewer
Location:
11q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (130404923..130428609, 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 RNA, 7SL, cytoplasmic 778, pseudogene Neighboring gene ZBTB44 divergent transcript Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 15 Neighboring gene uncharacterized LOC105369574 Neighboring gene BCL2 antagonist/killer 1 pseudogene 2

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

NHGRI GWAS Catalog

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

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 8
Names
ADAMTS-8
METH-2
METH-8
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8

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_052870.1 RefSeqGene

    Range
    5385..29071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007037.6NP_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
    ENSP00000257359.6, ENST00000257359.7
    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:50150
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    130404923..130428609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017145.1XP_016872634.1  A disintegrin and metalloproteinase with thrombospondin motifs 8 isoform X1

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