SNRPB
entrez
6628
canonical
uniprot
P14678
canonical
ensembl
ENSG00000125835
resolver
ensp
ENSP00000370746
resolver
ensp
ENSP00000412566
resolver
genesymbol
SNRPB
resolver
genesymbol_syn
COD
resolver
genesymbol_syn
SNRPB1
resolver
hgnc
HGNC:11153
resolver
uniprot
Q15490
resolver
uniprot
Q66K91
resolver
uniprot
Q6IB35
resolver
uniprot
Q9UIS5
resolver
uniprot_entry
Q66K91_HUMAN
resolver
uniprot_entry
RSMB_HUMAN
resolver
uniprot_sec
Q15490
resolver
uniprot_sec
Q6IB35
resolver
uniprot_sec
Q9UIS5
resolver
amino_acid_sequence
MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAEREEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPMPQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMGRGAPPPGMMGPPPGMRPPMGPPMGIPPGRGTPMGMPPPGMRPPPPGMRGPPPPGMRPPRP
uniprot
proteins
disease_involvement
DISEASE: Cerebrocostomandibular syndrome (CCMS) [MIM:117650]: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and intellectual disability. {ECO:0000269|PubMed:25047197, ECO:0000269|PubMed:25504470}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12975319, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:19325628, ECO:0000269|PubMed:25555158, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:32494006}.
uniprot
proteins
mass_dalton
24610
uniprot
proteins
post_translational_modification
PTM: Methylated by PRMT5 (By similarity). Arg-108 and Arg-112 are dimethylated, probably to asymmetric dimethylarginine (PubMed:16087681, Ref.10). {ECO:0000250|UniProtKB:P27048, ECO:0000269|PubMed:16087681, ECO:0000269|Ref.10}.
uniprot
proteins
protein_family
SnRNP SmB/SmN family
uniprot
proteins
pubmed
10025403
uniprot
proteins
pubmed
10500148
uniprot
proteins
pubmed
10556313
uniprot
proteins
pubmed
11574479
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12095920
uniprot
proteins
pubmed
12975319
uniprot
proteins
pubmed
15146077
uniprot
proteins
pubmed
15955813
uniprot
proteins
pubmed
16087681
uniprot
proteins
pubmed
16314521
uniprot
proteins
pubmed
1694885
uniprot
proteins
pubmed
1825643
uniprot
proteins
pubmed
18984161
uniprot
proteins
pubmed
19325628
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21516107
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
25047197
uniprot
proteins
pubmed
2522186
uniprot
proteins
pubmed
2524838
uniprot
proteins
pubmed
2531083
uniprot
proteins
pubmed
25504470
uniprot
proteins
pubmed
25555158
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
32494006
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
36797247
uniprot
proteins
sequence_length
240
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:11574479, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. {ECO:0000305}.
uniprot
proteins