Homo sapiens Gene: CRTAP
Summary
InnateDB Gene IDBG-24026.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CRTAP
Gene Name cartilage associated protein
Synonyms CASP; LEPREL3; OI7;
Species Homo sapiens
Ensembl Gene ENSG00000170275
Encoded Proteins
cartilage associated protein
cartilage associated protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:33113979-33147773
Strand Forward strand
Band p22.3
Transcripts
ENST00000320954 ENSP00000323696
ENST00000449224 ENSP00000409997
ENST00000485310
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Collagen formation pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.517888 Hs.728073 Hs.737987
RefSeq NM_006371
HUGO
OMIM
CCDS CCDS2657
HPRD 16110
IMGT
EMBL
GenPept
RNA Seq Atlas