CRIPT (CXXC repeat containing interactor of PDZ3 domain)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9419 |
| Gene name | CXXC repeat containing interactor of PDZ3 domain |
| Gene symbol | CRIPT |
| Synonyms (NCBI Gene) |
HSPC139RTS3SSMDF
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| Chromosome | 2 |
| Chromosome location | 2p21 |
| Summary | 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 |
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SNPs
SNP information provided by dbSNP.
2
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miRNA
miRNA information provided by mirtarbase database.
494
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9P021 | ||||||||||
| Protein name | Cysteine-rich PDZ-binding protein (Cysteine-rich interactor of PDZ three) (Cysteine-rich interactor of PDZ3) | ||||||||||
| Protein function | As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity). {ECO:0000250|UniProtKB:Q792Q4, ECO:0000305|PubM | ||||||||||
| PDB | 7DVQ | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 101 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
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