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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]
CRTAP (Cartilage Associated Protein) is a Protein Coding gene. Diseases associated with CRTAP include Osteogenesis Imperfecta, Type Vii and Osteogenesis Imperfecta, Type Ii. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. An important paralog of this gene is P3H4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,ISS | -- |
GO:0005518 | contributes_to collagen binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA | 19846465 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 19846465 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0032991 | protein-containing complex | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization | ||
2 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007283 | spermatogenesis | IEA | -- |
GO:0018400 | peptidyl-proline hydroxylation to 3-hydroxy-L-proline | IEA,IBA | 21873635 |
GO:0030199 | collagen fibril organization | IBA | 21873635 |
GO:0050821 | protein stabilization | IMP | 19846465 |
GO:0061077 | chaperone-mediated protein folding | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CRTAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CRTAP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CRTAP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Crtap 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC102555086 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CRTAP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CRTAP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRTAP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CRTAP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | crtap 30 |
|
||
Str.12426 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24676 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | crtap 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003898 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y73F8A.26 30 |
|
||
Y73F8A.26 31 32 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639500 | Uncertain Significance: Osteogenesis imperfecta type 7 | 33,114,162(+) | G/C | MISSENSE_VARIANT | |
639694 | Uncertain Significance: Osteogenesis imperfecta type 7 | 33,114,147(+) | G/A | MISSENSE_VARIANT | |
640162 | Uncertain Significance: Osteogenesis imperfecta type 7 | 33,114,457(+) | C/A | MISSENSE_VARIANT | |
640677 | Uncertain Significance: Osteogenesis imperfecta type 7 | 33,124,405(+) | C/G | ||
640796 | Uncertain Significance: Osteogenesis imperfecta type 7 | 33,124,546(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1292944 | OTHER | inversion | 17803354 |
nsv1003285 | CNV | gain | 25217958 |
nsv590050 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type vii |
|
|
osteogenesis imperfecta, type ii |
|
|
osteogenesis imperfecta, type iv |
|
|
osteogenesis imperfecta, type iii |
|
|
dentinogenesis imperfecta |
|
|