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Gene : TIMP1 Homo sapiens

Name  ? TIMP metallopeptidase inhibitor 1 Cytological Location  Xp11.3
Brief Description  TIMP metallopeptidase inhibitor 1
description  This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]
  • synonyms:
  • EPO,
  • TIMP1,
  • tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor),
  • TIMP,
  • TIMP,
  • HCI,
  • TIMP-1,
  • OTTHUMG00000021447,
  • EPA,
  • EPO,
  • uc004dif.4,
  • CLGI,
  • HGNC:11820,
  • NM_003254,
  • CLGI
  • identifiers:
  • 7076,
  • ENSG00000102265,
  • TIMP1

Genome feature

Region: gene ? Length: 4501  
Location: X:47582291-47586791 Cyto location: Xp11.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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

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Other

52 SN Ps

5 Cross References

15 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results