ADAMTS12

Protein-coding gene in the species Homo sapiens
ADAMTS12
Identifiers
AliasesADAMTS12, PRO4389, ADAM metallopeptidase with thrombospondin type 1 motif 12
External IDsOMIM: 606184; MGI: 2146046; HomoloGene: 12808; GeneCards: ADAMTS12; OMA:ADAMTS12 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for ADAMTS12
Genomic location for ADAMTS12
Band5p13.3-p13.2Start33,523,535 bp[1]
End33,892,019 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for ADAMTS12
Genomic location for ADAMTS12
Band15|15 A1Start11,064,790 bp[2]
End11,349,231 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • stromal cell of endometrium

  • visceral pleura

  • gonad

  • islet of Langerhans

  • adipose tissue

  • subcutaneous adipose tissue

  • sural nerve

  • abdominal fat

  • parietal pleura
Top expressed in
  • dermis

  • stroma of bone marrow

  • calvaria

  • efferent ductule

  • vestibular sensory epithelium

  • mammary gland

  • external carotid artery

  • aortic valve

  • internal carotid artery

  • otolith organ
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • metal ion binding
  • peptidase activity
  • protein binding
  • metalloendopeptidase activity
  • hydrolase activity
  • metallopeptidase activity
  • zinc ion binding
Cellular component
  • extracellular region
  • extracellular matrix
  • collagen-containing extracellular matrix
Biological process
  • regulation of endothelial tube morphogenesis
  • proteoglycan catabolic process
  • negative regulation of hepatocyte growth factor receptor signaling pathway
  • negative regulation of cellular response to vascular endothelial growth factor stimulus
  • cellular response to tumor necrosis factor
  • cellular response to BMP stimulus
  • negative regulation of cellular response to hepatocyte growth factor stimulus
  • proteolysis
  • negative regulation of chondrocyte differentiation
  • cellular response to interleukin-1
  • regulation of inflammatory response
  • proteolysis involved in cellular protein catabolic process
  • cell-matrix adhesion
  • cell migration
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

81792

239337

Ensembl

ENSG00000151388
ENSG00000281690

ENSMUSG00000047497

UniProt

P58397

Q811B3

RefSeq (mRNA)

NM_030955
NM_001324511
NM_001324512

NM_175501

RefSeq (protein)

NP_001311440
NP_001311441
NP_112217

NP_780710

Location (UCSC)Chr 5: 33.52 – 33.89 MbChr 15: 11.06 – 11.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

A disintegrin and metalloproteinase with thrombospondin motifs 12 is an enzyme that in humans is encoded by the ADAMTS12 gene.[5]

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.[5]

References

  1. ^ a b c ENSG00000281690 GRCh38: Ensembl release 89: ENSG00000151388, ENSG00000281690 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047497 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12".

Further reading

  • Tang BL (2001). "ADAMTS: a novel family of extracellular matrix proteases". Int. J. Biochem. Cell Biol. 33 (1): 33–44. doi:10.1016/S1357-2725(00)00061-3. PMID 11167130.
  • Llamazares M, Obaya AJ, Moncada-Pazos A, et al. (2008). "The ADAMTS12 metalloproteinase exhibits anti-tumorigenic properties through modulation of the Ras-dependent ERK signalling pathway". J. Cell Sci. 120 (Pt 20): 3544–52. doi:10.1242/jcs.005751. hdl:10651/42564. PMID 17895370.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Liu CJ, Kong W, Xu K, et al. (2006). "ADAMTS-12 associates with and degrades cartilage oligomeric matrix protein". J. Biol. Chem. 281 (23): 15800–8. doi:10.1074/jbc.M513433200. PMC 1483932. PMID 16611630.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.

External links

  • The MEROPS online database for peptidases and their inhibitors: M12.237
  • Human ADAMTS12 genome location and ADAMTS12 gene details page in the UCSC Genome Browser.


Stub icon

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e