Serpin H1; 47 kD heat shock protein; Arsenic-transactivated protein 3; AsTP3; cell proliferation-inducing gene 14 protein; collagen-binding protein; colligin; Rheumatoid arthritis-related antigen RA-A47 (SERPINH1, CBP1, CBP2, HSP47, SERPINH2, PIG14)

Function: - binds specifically to collagen - could be involved as a chaperone in the biosynthetic pathway of collagen Structure: belongs to the serpin family Compartment: endoplasmic reticulum lumen Expression: induced by heat shock Polymorphism: - a functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) - 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 Pathology: - defects in SERPINH1 are the cause of osteogenesis imperfecta type 10

General

glycoprotein heat shock protein

Properties

SIZE: entity length = 418 aa MW = 46 kD COMPARTMENT: endoplasmic reticulum MOTIF: signal sequence {1-18} alanine-rich region {25-29} MOTIF: alanine residue (SEVERAL) N-glycosylation site {N120} N-glycosylation site {N125} peptide motif {377-378} Prevents secretion from ER {415-418}

Database Correlations

OMIM correlations UniProt P50454 Pfam PF00079 Entrez Gene 871 Kegg hsa:871

References

UniProt :accession P50454 osteogenesis imperfecta variant database Note: Serpin H1 (SERPINH1) http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1