SF3A1 (splicing factor 3a subunit 1)

2016-05-01  

Identity

HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
PRP21,PRPF21,SAP114,SF3A120
FUSION GENES

Other Information

Locus ID:

NCBI: 10291
MIM: 605595
HGNC: 10765
Ensembl: ENSG00000099995

Variants:

dbSNP: 10291
ClinVar: 10291
TCGA: ENSG00000099995
COSMIC: SF3A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099995ENST00000215793Q15459
ENSG00000099995ENST00000215793A0A024R1K8
ENSG00000099995ENST00000411423F8WC79
ENSG00000099995ENST00000444440H7C1L2
ENSG00000099995ENST00000447376F8WB66

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, U2-snRNPKEGGM00352
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
156473712005Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
242042902013Limiting of the innate immune response by SF3A-dependent control of MyD88 alternative mRNA splicing.21
254031812014Stem-loop 4 of U1 snRNA is essential for splicing and interacts with the U2 snRNP-specific SF3A1 protein during spliceosome assembly.14
260794862015The Associations between RNA Splicing Complex Gene SF3A1 Polymorphisms and Colorectal Cancer Risk in a Chinese Population.5
264986912015SF3A1 and pancreatic cancer: new evidence for the association of the spliceosome and cancer.5
313837952019Identification of a noncanonical RNA binding domain in the U2 snRNP protein SF3A1.1

Citation

Dessen P

SF3A1 (splicing factor 3a subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55762/sf3a1