SNRPC (small nuclear ribonucleoprotein polypeptide C)

2014-11-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
U1C,Yhc1
FUSION GENES

Other Information

Locus ID:

NCBI: 6631
MIM: 603522
HGNC: 11157
Ensembl: ENSG00000124562

Variants:

dbSNP: 6631
ClinVar: 6631
TCGA: ENSG00000124562
COSMIC: SNRPC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124562ENST00000244520P09234
ENSG00000124562ENST00000244520Q5TAL4
ENSG00000124562ENST00000374017A0A0A0MRR7
ENSG00000124562ENST00000374018Q5TAL2

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U1-snRNPKEGGhsa_M00351
Spliceosome, U1-snRNPKEGGM00351
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124860092002The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites.101
256255642015ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.93

Citation

Dessen P

SNRPC (small nuclear ribonucleoprotein polypeptide C)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74036/snrpc