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].

via MyGene.info

Gene · Ensembl

serpin family H member 1

Symbol

SERPINH1

Biotype

Protein coding

Organism

Homo sapiens

Location

11:75,561,564-75,575,646

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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