Description: Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA. RefSeq Summary (NM_001235): 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]. Transcript (Including UTRs) Position: hg19 chr11:75,273,101-75,283,849 Size: 10,749 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr11:75,277,395-75,283,128 Size: 5,734 Coding Exon Count: 4
ID:SERPH_HUMAN DESCRIPTION: RecName: Full=Serpin H1; AltName: Full=47 kDa heat shock protein; AltName: Full=Arsenic-transactivated protein 3; Short=AsTP3; AltName: Full=Cell proliferation-inducing gene 14 protein; AltName: Full=Collagen-binding protein; Short=Colligin; AltName: Full=Rheumatoid arthritis-related antigen RA-A47; Flags: Precursor; FUNCTION: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. INDUCTION: By heat shock. 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) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. 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. DISEASE: Defects in SERPINH1 are the cause of osteogenesis imperfecta type 10 (OI10) [MIM:613848]. A connective tissue disorder characterized by bone fragility, low bone mass, bowing of limbs due to multiple fractures, short limb dwarfism and blue sclerae. SIMILARITY: Belongs to the serpin family. WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Serpin H1 (SERPINH1); URL="http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1";
Body Height Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature.
[PubMed 20881960]
Body Height Cara L Carty et al. Human molecular genetics 2012, Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe)., Human molecular genetics.
[PubMed 22021425]
premature rupture of membranes Wang, H. et al. 2006, A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans, Proc Natl Acad Sci U S A 2006.
[PubMed 16938879]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P50454
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0003433 chondrocyte development involved in endochondral bone morphogenesis GO:0006986 response to unfolded protein GO:0010951 negative regulation of endopeptidase activity GO:0030199 collagen fibril organization GO:0032964 collagen biosynthetic process GO:0051604 protein maturation
US Server
