CRIPT
entrez
9419
canonical
uniprot
Q9P021
canonical
ensembl
ENSG00000119878
resolver
ensp
ENSP00000238892
resolver
ensp
ENSP00000520690
resolver
ensp
ENSP00000520691
resolver
ensp
ENSP00000593249
resolver
enst
ENST00000238892
resolver
enst
ENST00000718245
resolver
enst
ENST00000718246
resolver
enst
ENST00000923190
resolver
genesymbol
CRIPT
resolver
hgnc
HGNC:14312
resolver
uniprot_entry
CRIPT_HUMAN
resolver
amino_acid_sequence
MVCEKCEKKLGTVITPDTWKDGARNTTESGGRKLNENKALTSKKARFDPYGKNKFSTCRICKSSVHQPGSHYCQGCAYKKGICAMCGKKVLDTKNYKQTSV
uniprot
proteins
disease_involvement
DISEASE: Rothmund-Thomson syndrome 3 (RTS3) [MIM:615789]: A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures. {ECO:0000269|PubMed:24389050, ECO:0000269|PubMed:27250922}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:33509932}.
uniprot
proteins
mass_dalton
11216
uniprot
proteins
protein_family
CRIPT family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17474715
uniprot
proteins
pubmed
24389050
uniprot
proteins
pubmed
27250922
uniprot
proteins
pubmed
33509932
uniprot
proteins
sequence_length
101
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Synapse {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with DLG4 in asymmetric synapses. {ECO:0000250}.
uniprot
proteins