RBCC Red Blood Cell Collection

SERPH_HUMAN

Source: PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SERPINH1 , CBP1, CBP2, HSP47, SERPINH2 , PIG14
Protein names and data: SERPH_HUMAN , Serpin H1 , 47 kDa heat shock protein; Arsenic-transactivated protein 3; AsTP3; Cell proliferation-inducing gene 14 protein; Collagen-binding protein; Colligin; Rheumatoid arthritis-related antigen RA-A47; Flags: Precursor Lenght: 418 a.a.
Mass: 46441 Da
fasta formatted sequence
Function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
Disease: ( OMIM: 600943 610504 613848 ) Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum lumen.

Genetic variants

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.

41 - 41 A -> P (in dbSNP:rs7105528). VAR_028445 7105528
78 - 78 L -> P (in OI10). VAR_063602

Database cross-references

UniProt: P50454
Ensembl: ENST00000358171
Ensembl: ENST00000524558
Ensembl: ENST00000533603
MIM: 600943
MIM: 610504
MIM: 613848
neXtProt: NX_P50454
Antibodypedia: P50454 (may not find the protein thus also not any antibody)
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