Entrez Summary: The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008].
UniProt Summary: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. {ECO:0000269|PubMed:17055431}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
peptidyl-proline hydroxylation to 3-hydroxy-L-proline
negative regulation of post-translational protein modification
regulation of post-translational protein modification
peptidyl-proline hydroxylation
protein hydroxylation
chaperone-mediated protein folding
peptidyl-proline modification
protein stabilization
cellular modified amino acid metabolic process
protein folding
regulation of protein stability
endoplasmic reticulum lumen
spermatogenesis
male gamete generation
negative regulation of protein modification process
protein-containing complex
gamete generation
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
peptidyl-amino acid modification
multi-organism reproductive process
endoplasmic reticulum
negative regulation of cellular protein metabolic process
negative regulation of protein metabolic process
reproductive process
reproduction
extracellular space
regulation of protein modification process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)