SERPINH1

Gene Information
 
Gene Symbol
SERPINH1
 
Aliases
AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
 
Entrez Gene ID
871
 
Gene Name
Serpin family H member 1
 
Chromosomal Location
11q13.5
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006986 Biological process Response to unfolded protein TAS 1309665, 10023073
GO:0010951 Biological process Negative regulation of endopeptidase activity IBA 21873635
GO:0030199 Biological process Collagen fibril organization IBA 21873635
GO:0005783 Cellular component Endoplasmic reticulum IBA 21873635
GO:0005783 Cellular component Endoplasmic reticulum NAS 7656593
Protein Information
 
Protein Name
Serpin H1, 47 kDa heat shock protein, arsenic-transactivated protein 3, cell proliferation-inducing gene 14 protein, collagen binding protein 1, colligin-1, colligin-2, rheumatoid arthritis antigen A-47, rheumatoid arthritis-related antigen RA-A47, serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1), serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2), serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
 
Function
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00079 Serpin
Pathways
 
Reactome
 

 

Collagen biosynthesis and modifying enzymes

Interactions
 
STRING MINT IntAct
ENSP00000446007 P08670 P08670
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Arteriosclerosis
Digestive System Diseases
Liver Fibrosis
Liver Cirrhosis
Endocrine System Diseases
PCOS
Musculoskeletal Diseases
Osteogenesis Imperfecta
References
 

Proteomic analysis of human ovaries from normal and polycystic ovarian syndrome.

Ma Xiang, Fan Lu, Meng Yan, Hou Zheng, Mao Yun-Dong, Wang Wei, Ding Wei, Liu Jia-Yin
Laboratory of Reproductive Medicine, Nanjing Medical University, and The Center of Clinical Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, People's Republic of China.
Mol Hum Reprod. 2007 Aug;13(8):527-35. doi: 10.1093/molehr/gam036. Epub 2007 Jun

Power of proteomics in linking oxidative stress and female infertility.

Gupta Sajal, Ghulmiyyah Jana, Sharma Rakesh, Halabi Jacques, Agarwal Ashok
Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.| Center for Reproductive Medicine, Cleveland Clinic Foundation, 10681 Carnegie Avenue, Desk X11, Cleveland, OH 44195, USA.
Biomed Res Int. 2014;2014:916212. doi: 10.1155/2014/916212. Epub 2014 May 12.

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