Gene id |
9419 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
CRIPT Gene UCSC Ensembl |
Aliases |
HSPC139, SSMDF |
Gene name |
CXXC repeat containing interactor of PDZ3 domain |
Alternate names |
cysteine-rich PDZ-binding protein, cysteine-rich interactor of PDZ three, cysteine-rich interactor of PDZ3, postsynaptic protein CRIPT, |
Gene location |
2p21 (46617214: 46630175) Exons: 3 NC_000002.12
|
Gene summary(Entrez) |
This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provi
|
OMIM |
604594 |
Protein Summary
|
Protein general information
| Q9P021
Name: Cysteine rich PDZ binding protein (Cysteine rich interactor of PDZ three) (Cysteine rich interactor of PDZ3)
Length: 101 Mass: 11216
|
Sequence |
MVCEKCEKKLGTVITPDTWKDGARNTTESGGRKLNENKALTSKKARFDPYGKNKFSTCRICKSSVHQPGSHYCQG CAYKKGICAMCGKKVLDTKNYKQTSV
|
Structural information |
|
Other Databases |
GeneCards: CRIPT  Malacards: CRIPT |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0030165 |
PDZ domain binding
|
IBA |
molecular function |
GO:0008017 |
microtubule binding
|
IBA |
molecular function |
GO:0030425 |
dendrite
|
IBA |
cellular component |
GO:0031122 |
cytoplasmic microtubule o rganization
|
IBA |
biological process |
GO:0030054 |
cell junction
|
IEA |
cellular component |
GO:0042995 |
cell projection
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0045202 |
synapse
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:1902897 |
regulation of postsynapti c density protein 95 clus tering
|
IEA |
biological process |
GO:0031122 |
cytoplasmic microtubule o rganization
|
IEA |
biological process |
GO:0030425 |
dendrite
|
IEA |
cellular component |
GO:0008017 |
microtubule binding
|
IEA |
molecular function |
GO:0045184 |
establishment of protein localization
|
IEA |
biological process |
GO:0044877 |
protein-containing comple x binding
|
IEA |
molecular function |
GO:0043198 |
dendritic shaft
|
IEA |
cellular component |
GO:0043197 |
dendritic spine
|
IEA |
cellular component |
GO:0043025 |
neuronal cell body
|
IEA |
cellular component |
GO:0035372 |
protein localization to m icrotubule
|
IEA |
biological process |
GO:0030165 |
PDZ domain binding
|
IEA |
molecular function |
GO:0014069 |
postsynaptic density
|
IEA |
cellular component |
GO:0097110 |
scaffold protein binding
|
IDA |
molecular function |
GO:0045202 |
synapse
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0043197 |
dendritic spine
|
IEA |
cellular component |
GO:0030165 |
PDZ domain binding
|
IDA |
molecular function |
GO:0043198 |
dendritic shaft
|
ISS |
cellular component |
GO:0043025 |
neuronal cell body
|
ISS |
cellular component |
GO:0035372 |
protein localization to m icrotubule
|
ISS |
biological process |
GO:1902897 |
regulation of postsynapti c density protein 95 clus tering
|
ISS |
biological process |
GO:0031122 |
cytoplasmic microtubule o rganization
|
ISS |
biological process |
GO:0045184 |
establishment of protein localization
|
ISS |
biological process |
GO:0043197 |
dendritic spine
|
ISS |
cellular component |
GO:0044877 |
protein-containing comple x binding
|
ISS |
molecular function |
GO:0014069 |
postsynaptic density
|
ISS |
cellular component |
GO:0030425 |
dendrite
|
ISS |
cellular component |
GO:0008017 |
microtubule binding
|
ISS |
molecular function |
|
|
Associated diseases |
References |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|