SERPINH1

Also known as AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47

protein-coding gene in the species Homo sapiens

Gene data

SERPINH1

Name: serpin family H member 1
Type: protein-coding
Position: 75,561,564–75,575,646 (+)
Aliases: AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
Ensembl: ENSG00000149257
RefSeq RNA: NM_001207014.3, NM_001235.5, NM_001440311.1, NM_001440312.1, NM_001440313.1
RefSeq protein: NP_001193943.1, NP_001226.2, NP_001427240.1, NP_001427241.1, NP_001427242.1

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].