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Gene : SERPINH1 Homo sapiens

Name  ? serpin family H member 1 Cytological Location  11q13.5
Brief Description  serpin family H member 1
Description  This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
  • synonyms:
  • NM_004353,
  • HSP47,
  • serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1),
  • SERPINH2,
  • PPROM,
  • SERPINH1,
  • OTTHUMG00000165362,
  • CBP2,
  • colligen,
  • CBP1,
  • CBP1,
  • serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2,
  • AsTP3,
  • uc009yug.4,
  • HGNC:1546,
  • CBP2,
  • HSP47,
  • SERPINH2,
  • collagen binding protein 1,
  • PIG14,
  • RA-A47,
  • serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1),
  • X61598,
  • gp46,
  • OI10
  • identifiers:
  • 871,
  • ENSG00000149257,
  • SERPINH1

Genome feature

Region: gene ? Length: 10559  
Location: 11:75562253-75572811 Cyto location: 11q13.5


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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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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Expression

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Gene Ontology

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Other

283 SN Ps

5 Cross References

19 Data Sets

42 Homologues

0 Located Features

97 Rna Seq Results