InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRTAP

Summary

InnateDB Protein

IDBP-24030.6

Last Modified

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

Gene Symbol

CRTAP

Protein Name

cartilage associated protein

Synonyms

CASP; LEPREL3; OI7;

Species

Homo sapiens

Ensembl Protein

ENSP00000323696

InnateDB Gene

IDBG-24026 (CRTAP)

Protein Structure

UniProt Annotation

Function

Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. {ECO:0000269PubMed:17055431}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Osteogenesis imperfecta 7 (OI7) [MIM:610682]: 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. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. {ECO:0000269PubMed:17055431, ECO:0000269PubMed:18566967, ECO:0000269PubMed:19550437, ECO:0000269PubMed:21955071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in articular chondrocytes. Expressed in a variety of tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005351	sugar:proton symporter activity
GO:0032403	protein complex binding

Biological Process

GO:0006810	transport
GO:0007283	spermatogenesis
GO:0009401	phosphoenolpyruvate-dependent sugar phosphotransferase system
GO:0018400	peptidyl-proline hydroxylation to 3-hydroxy-L-proline
GO:0030198	extracellular matrix organization
GO:0050821	protein stabilization
GO:0061077	chaperone-mediated protein folding
GO:1901874	negative regulation of post-translational protein modification

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0005783	endoplasmic reticulum
GO:0005788	endoplasmic reticulum lumen
GO:0032991	macromolecular complex