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Gene : MMP1 Homo sapiens

Name  ? matrix metallopeptidase 1 Cytological Location  11q22.2
Brief Description  matrix metallopeptidase 1
description  This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
  • synonyms:
  • HGNC:7155,
  • matrix metalloproteinase 1 (interstitial collagenase),
  • interstitial collagenase,
  • CLG,
  • NM_002421,
  • CLGN,
  • uc001phi.3,
  • X54925,
  • CLG,
  • OTTHUMG00000048192,
  • MMP1
  • identifiers:
  • 4312,
  • ENSG00000196611,
  • MMP1

Genome feature

Region: gene ? Length: 8242  
Location: 11:102789919-102798160 reverse strand Cyto location: 11q22.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

902 SN Ps

5 Cross References

18 Data Sets

33 Homologues

0 Located Features

97 Rna Seq Results