MGP Database

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MGP000430

UniProt Annotations

Entry Information
Gene Nameserpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Protein EntrySERPH_HUMAN
UniProt IDP50454
SpeciesHuman
Comments
Comment typeDescription
DiseaseOsteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. {ECO:0000269|PubMed:20188343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBinds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
InductionBy heat shock.
PolymorphismA functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele.
SimilarityBelongs to the serpin family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum lumen.
Web ResourceName=Osteogenesis imperfecta variant database; Note=Serpin H1 (SERPINH1); URL="http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1";
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