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

Pathology

• defects in SERPINH1 are the cause of osteogenesis imperfecta type 10

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

More general terms

• heat shock protein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=871
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:871
• OMIM: https://mirror.omim.org/entry/600943
• OMIM: https://mirror.omim.org/entry/610504
• OMIM: https://mirror.omim.org/entry/613848
• UniProt: http://www.uniprot.org/uniprot/P50454.html