CWC27
entrez
10283
canonical
uniprot
Q6UX04
canonical
ensembl
ENSG00000153015
resolver
ensp
ENSP00000370460
resolver
ensp
ENSP00000426802
resolver
ensp
ENSP00000508985
resolver
ensp
ENSP00000509657
resolver
ensp
ENSP00000510726
resolver
enst
ENST00000508024
resolver
enst
ENST00000685023
resolver
enst
ENST00000691921
resolver
enst
ENST00000692763
resolver
genesymbol
CWC27
resolver
genesymbol_syn
SDCCAG10
resolver
hgnc
HGNC:10664
resolver
uniprot
A0A8I5KQK1
resolver
uniprot
A0A8I5KRF5
resolver
uniprot
A0A8I5KUW8
resolver
uniprot
D6REK3
resolver
uniprot
O60529
resolver
uniprot
O60530
resolver
uniprot
Q96EM3
resolver
uniprot_entry
A0A8I5KQK1_HUMAN
resolver
uniprot_entry
A0A8I5KRF5_HUMAN
resolver
uniprot_entry
A0A8I5KUW8_HUMAN
resolver
uniprot_entry
CWC27_HUMAN
resolver
uniprot_entry
D6REK3_HUMAN
resolver
uniprot_sec
O60529
resolver
uniprot_sec
O60530
resolver
uniprot_sec
Q96EM3
resolver
amino_acid_sequence
MSNIYIQEPPTNGKVLLKTTAGDIDIELWSKEAPKACRNFIQLCLEAYYDNTIFHRVVPGFIVQGGDPTGTGSGGESIYGAPFKDEFHSRLRFNRRGLVAMANAGSHDNGSQFFFTLGRADELNNKHTIFGKVTGDTVYNMLRLSEVDIDDDERPHNPHKIKSCEVLFNPFDDIIPREIKRLKKEKPEEEVKKLKPKGTKNFSLLSFGEEAEEEEEEVNRVSQSMKGKSKSSHDLLKDDPHLSSVPVVESEKGDAPDLVDDGEDESAEHDEYIDGDEKNLMRERIAKKLKKDTSANVKSAGEGEVEKKSVSRSEELRKEARQLKRELLAAKQKKVENAAKQAEKRSEEEEAPPDGAVAEYRREKQKYEALRKQQSKKGTSREDQTLALLNQFKSKLTQAIAETPENDIPETEVEDDEGWMSHVLQFEDKSRKVKDASMQDSDTFEIYDPRNPVNKRRREESKKLMREKKERR
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa with or without skeletal anomalies (RPSKA) [MIM:250410]: An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. {ECO:0000269|PubMed:28285769}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:29360106, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
53847
uniprot
proteins
protein_family
Cyclophilin-type PPIase family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20676357
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25478830
uniprot
proteins
pubmed
28285769
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
9610721
uniprot
proteins
sequence_length
472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:29360106}.
uniprot
proteins