CWC22 (CWC22 spliceosome associated protein)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57703 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
CWC22 spliceosome associated protein |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CWC22 |
SynonymsGene synonyms aliases
|
EIF4GL, NCM, fSAPb |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q31.3 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IBA |
21873635 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IC |
11991638 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
IDA |
29360106 |
GO:0000398 |
Process |
MRNA splicing, via spliceosome |
TAS |
|
GO:0003723 |
Function |
RNA binding |
IBA |
21873635 |
GO:0003723 |
Function |
RNA binding |
IDA |
11991638 |
GO:0005515 |
Function |
Protein binding |
IPI |
22365833, 22961380, 23084401, 23236153, 29997244, 32296183 |
GO:0005634 |
Component |
Nucleus |
IDA |
29360106 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005681 |
Component |
Spliceosomal complex |
IDA |
11991638 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0016607 |
Component |
Nuclear speck |
IDA |
22961380 |
GO:0048024 |
Process |
Regulation of mRNA splicing, via spliceosome |
IC |
11991638 |
GO:0071005 |
Component |
U2-type precatalytic spliceosome |
IDA |
29360106 |
GO:0071006 |
Component |
U2-type catalytic step 1 spliceosome |
IDA |
29301961 |
GO:0071007 |
Component |
U2-type catalytic step 2 spliceosome |
IDA |
28076346 |
GO:0071013 |
Component |
Catalytic step 2 spliceosome |
IBA |
21873635 |
GO:0071013 |
Component |
Catalytic step 2 spliceosome |
IDA |
11991638, 22961380 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9HCG8 |
Protein name |
Pre-mRNA-splicing factor CWC22 homolog (Nucampholin homolog) (fSAPb) |
Protein function |
Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:12226669, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106). As a component of the minor spliceosome, involved in the spli |
PDB |
4C9B
,
5MQF
,
5XJC
,
5YZG
,
5Z56
,
5Z57
,
5Z58
,
6FF7
,
6ICZ
,
6QDV
,
6YVH
,
6ZYM
,
7A5P
,
7DVQ
,
7QTT
,
7W59
,
7W5A
,
7W5B
,
8C6J
,
8CH6
,
8I0R
,
8I0S
,
8I0T
,
8I0U
,
8I0V
,
8I0W
,
9FMD
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02847 |
MA3 |
455 → 561 |
MA3 domain |
Family |
|
Sequence |
MKSSVAQIKPSSGHDRRENLNSYQRNSSPEDRYEEQERSPRDRDYFDYSRSDYEHSRRGR SYDSSMESRNRDREKRRERERDTDRKRSRKSPSPGRRNPETSVTQSSSAQDEPATKKKKD ELDPLLTRTGGAYIPPAKLRMMQEQITDKNSLAYQRMSWEALKKSINGLINKVNISNISI IIQELLQENIVRGRGLLSRSVLQAQSASPIFTHVYAALVAIINSKFPQIGELILKRLILN FRKGYRRNDKQLCLTASKFVAHLINQNVAHEVLCLEMLTLLLERPTDDSVEVAIGFLKEC GLKLTQVSPRGINAIFERLRNILHESEIDKRVQYMIEVMFAVRKDGFKDHPIILEGLDLV EEDDQFTHMLPLEDDYNPEDVLNVFKMDPNFMENEEKYKAIKKEILDEGDTDSNTDQDAG SSEEDEEEEEEEGEEDEEGQKVTIHDKTEINLVSFRRTIYLAIQSSLDFEECAHKLLKME FPESQTKELCNMILDCCAQQRTYEKFFGLLAGRFCMLKKEYMESFEGIFKEQYDTIHRLE TNKLRNVAKMFAHLLYTDSLPWSVLECIKLSEETTTSSSRIFVKIFFQELCEYMGLPKLN ARLKDETLQPFFEGLLPRDNPRNTRFAINFFTSIGLGGLTDELREHLKNTPKVIVAQKPD VEQNKSSPSSSSSASSSSESDSSDSDSDSSDSSSESSSEESDSSSISSHSSASANDVRKK GHGKTRSKEVDKLIRNQQTNDRKQKERRQEHGHQETRTERERRSEKHRDQNSSGSNWRDP ITKYTSDKDVPSERNNYSRVANDRDQEMHIDLENKHGDPKKKRGERRNSFSENEKHTHRI KDSENFRRKDRSKSKEMNRKHSGSRSDEDRYQNGAERRWEKSSRYSEQSRESKKNQDRRR EKSPAKQK
|
|
Sequence length |
908 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
30285260, 28991256 |
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