InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPINH1

Summary

InnateDB Protein

IDBP-591115.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SERPINH1

Protein Name

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

Synonyms

AsTP3; CBP1; CBP2; gp46; HSP47; OI10; PPROM; RA-A47; SERPINH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000434657

InnateDB Gene

IDBG-64909 (SERPINH1)

Protein Structure

UniProt Annotation

Function

Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

Subcellular Localization

Endoplasmic reticulum lumen.

Disease Associations

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. {ECO:0000269PubMed:20188343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 79 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	79 [view]
Protein-Protein	79 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005518	collagen binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006986	response to unfolded protein
GO:0010951	negative regulation of endopeptidase activity
GO:0030162	regulation of proteolysis
GO:0030198	extracellular matrix organization

Cellular Component

GO:0005615	extracellular space
GO:0005783	endoplasmic reticulum
GO:0005788	endoplasmic reticulum lumen
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0070062	extracellular vesicular exosome