ADAMTS6

Last updated
ADAMTS6
Identifiers
Aliases ADAMTS6 , ADAM-TS 6, ADAM-TS6, ADAMTS-6, ADAM metallopeptidase with thrombospondin type 1 motif 6
External IDs OMIM: 605008 MGI: 1347348 HomoloGene: 82573 GeneCards: ADAMTS6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_197941
NM_014273

NM_001081020
NM_175496

RefSeq (protein)

NP_922932

NP_001074489

Location (UCSC) Chr 5: 65.15 – 65.48 Mb Chr 13: 104.42 – 104.63 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ADAM metallopeptidase with thrombospondin type 1 motif 6 is a protein that in humans is encoded by the ADAMTS6 gene. [5]

Contents

Function

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. Expression of this gene may be regulated by the cytokine TNF-alpha.

Mutation in ADAMTS6 causes predisposition to hernias. [6]

Related Research Articles

ADAMTS5 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 5 also known as ADAMTS5 is an enzyme that in humans is encoded by the ADAMTS5 gene.

ADAMTS13 Metalloprotease enzyme

ADAMTS13 —also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting. It is secreted into the blood and degrades large vWf multimers, decreasing their activity.

ADAMTS2 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS2) also known as procollagen I N-proteinase is an enzyme that in humans is encoded by the ADAMTS2 gene.

ADAM (protein)

ADAMs are a family of single-pass transmembrane and secreted metalloendopeptidases. All ADAMs are characterized by a particular domain organization featuring a pro-domain, a metalloprotease, a disintegrin, a cysteine-rich, an epidermal-growth factor like and a transmembrane domain, as well as a C-terminal cytoplasmic tail. Nonetheless, not all human ADAMs have a functional protease domain, which indicates that their biological function mainly depends on protein–protein interactions. Those ADAMs which are active proteases are classified as sheddases because they cut off or shed extracellular portions of transmembrane proteins. For example, ADAM10 can cut off part of the HER2 receptor, thereby activating it. ADAM genes are found in animals, choanoflagellates, fungi and some groups of green algae. Most green algae and all land plants likely lost ADAM proteins.

ADAMTS4 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 4 is an enzyme that in humans is encoded by the ADAMTS4 gene.

ADAMTS1 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 1 is an enzyme that in humans is encoded by the ADAMTS1 gene.

ADAMTSL4 Protein-coding gene in the species Homo sapiens

ADAMTS-like protein 4 is a protein that in humans is encoded by the ADAMTSL4 gene.

ADAMTS8

A disintegrin and metalloproteinase with thrombospondin motifs 8 is an enzyme that in humans is encoded by the ADAMTS8 gene.

ADAMTS9 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 9 is an enzyme that in humans is encoded by the ADAMTS9 gene.

ADAMTS10 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 10 is an enzyme that in humans is encoded by the ADAMTS10 gene.

ADAM23 Protein-coding gene in the species Homo sapiens

Disintegrin and metalloproteinase domain-containing protein 23 is a non-catalytic protein that in humans is encoded by the ADAM23 gene. It is a member of the ADAM family of extracellular matrix metalloproteinases.

ADAMTSL1 Protein-coding gene in the species Homo sapiens

ADAMTS-like protein 1 is a protein that in humans is encoded by the ADAMTSL1 gene.

ADAM8 Protein-coding gene in the species Homo sapiens

A Disintegrin and metalloproteinase domain-containing protein 8 is an enzyme that in humans is encoded by the ADAM8 gene.

ADAM11 Protein-coding gene in the species Homo sapiens

Disintegrin and metalloproteinase domain-containing protein 11 is an enzyme that in humans is encoded by the ADAM11 gene.

ADAMTS3 Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 3 is an enzyme that in humans is encoded by the ADAMTS3 gene. The protein encoded by this gene is the major procollagen II N-propeptidase.

Gamma-glutamyltransferase 7 Protein-coding gene in the species Homo sapiens

Gamma-glutamyltransferase 7 is an enzyme that in humans is encoded by the GGT7 gene.

ADAMTS12 Protein-coding gene in the species Homo sapiens

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

PAPLN

Papilin is a protein that in humans is encoded by the PAPLN gene. Papilin is an extracellular matrix glycoprotein.

ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.

ADAMTS14 encodes a member of the ADAMTS 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. Mature enzyme is generated by the proteolytically process of the encoded preproprotein. The enzyme cleaves the amino-propeptides of fibrillar collagens, enabling collagen fibril formation prior to assembly of collagen, which is a major extracellular matrix (ECM) protein.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000049192 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046169 - 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. "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif 6" . Retrieved 2017-09-01.
  6. Jorgenson, E.; Makki, N.; Shen, L.; Chen, D. C.; Tian, C.; Eckalbar, W. L.; Hinds, D.; Ahituv, N.; Avins, A. (2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed". Nature Communications. 6: 10130. doi:10.1038/ncomms10130. PMC   4703831 . PMID   26686553.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.