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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, 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 View all (12 more) |
30285260, 28991256 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
Obesity |
Obesity |
|
|
GWAS |
Gout |
Gout |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Tremor |
Tremor |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Amyotrophic Lateral Sclerosis |
Associate
|
35328793 |
Carcinoma Non Small Cell Lung |
Associate
|
28296343 |
Colorectal Neoplasms |
Associate
|
32345988 |
Immunologic Deficiency Syndromes |
Associate
|
32329775 |
Tertiary Lymphoid Structures |
Associate
|
32345988 |
|