CRIPT
Cysteine-rich PDZ-binding protein
Also known as: CRIPT_HUMAN, HSPC139
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9P021
- Gene
- CRIPT
- Ensembl
- ENSG00000119878
- Chromosome
- 2
- Canonical length
- 101 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
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. [provided by RefSeq, Jun 2014]
Canonical amino-acid sequenceUniProt
101 residues, UniProt reviewed canonical sequence.
>Q9P021|CRIPT
1 MVCEKCEKKL GTVITPDTWK DGARNTTESG GRKLNENKAL TSKKARFDPY GKNKFSTCRI
61 CKSSVHQPGS HYCQGCAYKK GICAMCGKKV LDTKNYKQTS VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRIPT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 9.9 nTPM
Expression across tissuesHPA
Tissue
- retina: 9.9 nTPM
- bone marrow: 5.6 nTPM
- epididymis: 5.2 nTPM
- spinal cord: 4.8 nTPM
- cerebellum: 4.7 nTPM
- amygdala: 4.2 nTPM
Single-cell type
- esophageal apical cells: 218 nCPM
- syncytiotrophoblasts: 117 nCPM
- extravillous trophoblasts: 112 nCPM
- esophageal suprabasal cells: 110 nCPM
- parietal cells: 104 nCPM
- breast lactating cells: 97 nCPM
Immune cell
- basophil: 6.2 nTPM
- neutrophil: 5.2 nTPM
- eosinophil: 3.8 nTPM
- memory B-cell: 3.6 nTPM
- T-reg: 3.6 nTPM
- naive B-cell: 3.5 nTPM
Brain region
- cerebellum: 31 nTPM
- white matter: 30 nTPM
- cerebral cortex: 27 nTPM
- medulla oblongata: 27 nTPM
- choroid plexus: 27 nTPM
- hippocampal formation: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRIPT.
Disease | AllUniProt
Conditions CRIPT is implicated in, by any mechanism.
- Rothmund-Thomson syndrome 3 (RTS3) MIM:615789
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 92 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Rothmund-Thomson syndrome type 3
- Ateleiotic dwarfism
- Fetal anomalies with a likely genetic cause
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.58
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.39
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cytoplasmic microtubule organization
- mRNA processing
- protein localization to microtubule
- regulation of postsynaptic density assembly
- regulation of postsynaptic density protein 95 clustering
- RNA splicing
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PDZ-binding protein, CRIPT
- Microtubule-associated protein CRIPT
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CRIPT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRIPT as an antibody target. Whether an autoantibody or antibody against CRIPT could matter depends on whether native CRIPT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRIPT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CRIPT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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