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This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
CRTAC1 (Cartilage Acidic Protein 1) is a Protein Coding gene. Diseases associated with CRTAC1 include Neurofibromatosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0030426 | growth cone | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007413 | axonal fasciculation | IEA | -- |
GO:0021772 | olfactory bulb development | IEA | -- |
GO:1900121 | negative regulation of receptor binding | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CRTAC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CRTAC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CRTAC1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CRTAC1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Crtac1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Crtac1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CRTAC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CRTAC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CRTAC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | crtac1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | crtac1b 30 31 |
|
OneToMany | |
crtac1a 31 |
|
OneToMany | |||
Dr.6210 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2297935 | - | p.Val569Met | |||
rs35853031 | - | p.Ala253Thr | |||
rs56007204 | - | p.Glu658Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2660852 | CNV | deletion | 23128226 |
esv3306622 | CNV | mobile element insertion | 20981092 |
esv3444944 | CNV | insertion | 20981092 |
esv3546732 | CNV | deletion | 23714750 |
esv3624328 | CNV | loss | 21293372 |
esv3624329 | OTHER | inversion | 21293372 |
nsv1047572 | CNV | gain | 25217958 |
nsv25263 | CNV | deletion | 16902084 |
nsv474763 | CNV | novel sequence insertion | 20440878 |
nsv509364 | CNV | insertion | 20534489 |
nsv513013 | CNV | insertion | 21212237 |
nsv7510 | CNV | insertion | 18451855 |
nsv819567 | CNV | gain | 19587683 |
nsv831953 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis |
|
|