Full name: serpin family H member 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AsTP3; CBP1; CBP2; HSP47; OI10; PIG14; PPROM; RA-A47; SERPINH2; gp46

Summary: 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]

Expression: Broad expression in placenta (RPKM 140.7), endometrium (RPKM 76.2) and 21 other tissues

Gene size: 10531bp

Exon count: 7