Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6426
Gene name Gene Name - the full gene name approved by the HGNC.
Serine and arginine rich splicing factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRSF1
Synonyms (NCBI Gene) Gene synonyms aliases
ASF, NEDFBA, SF2, SF2p33, SFRS1, SRp30a
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDFBA
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004497 hsa-miR-7-5p qRT-PCR, Luciferase reporter assay, Western blot, Northern blot 20385090
MIRT006536 hsa-miR-10a-5p Luciferase reporter assay 21118818
MIRT006539 hsa-miR-10b-5p Luciferase reporter assay 21118818
MIRT006536 hsa-miR-10a-5p Luciferase reporter assay 21118818
MIRT006539 hsa-miR-10b-5p Luciferase reporter assay 21118818
Transcription factors
Transcription factor Regulation Reference
MYC Activation 22545246
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000380 Process Alternative mRNA splicing, via spliceosome IDA 8940107
GO:0000395 Process MRNA 5'-splice site recognition IDA 8940107, 9885563
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600812 10780 ENSG00000136450
Protein
UniProt ID Q07955
Protein name Serine/arginine-rich splicing factor 1 (Alternative-splicing factor 1) (ASF-1) (Splicing factor, arginine/serine-rich 1) (pre-mRNA-splicing factor SF2, P33 subunit)
Protein function Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding compon
PDB 1X4A , 2M7S , 2M8D , 2O3D , 3BEG , 4C0O , 6HPJ , 7ABG , 8QO9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 18 85 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 123 186 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MSGGGVIRGPAGNNDCRIYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNRRGGPPFAFVE
FEDPRDAEDAVYGRDGYDYDGYRLR
VEFPRSGRGTGRGGGGGGGGGAPRGRYGPPSRRSE
NRVVVSGLPPSGSWQDLKDHMREAGDVCYADVYRDGTGVVEFVRKEDMTYAVRKLDNTKF
RSHEGE
TAYIRVKVDGPRSPSYGRSRSRSRSRSRSRSRSNSRSRSYSPRRSRGSPRYSPR
HSRSRSRT
Sequence length 248
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome
IL-17 signaling pathway
Herpes simplex virus 1 infection
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
16223876
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 23071587
Adenocarcinoma of Lung Stimulate 23071587
Afibrinogenemia Associate 16611940
Alzheimer Disease Associate 31208978
Arrest of spermatogenesis Associate 32614269
Asthma Associate 35751199
Atherosclerosis Associate 25904137
Bone Diseases Associate 38072145
Breast Neoplasms Associate 23284704, 24926616, 26431027, 33918758, 33992102, 35959349, 37938975
Carcinogenesis Associate 23592547, 23748175, 27984373, 30181552, 36593359