Gene Gene information from NCBI Gene database.
Entrez ID 6426
Gene name Serine and arginine rich splicing factor 1
Gene symbol SRSF1
Synonyms (NCBI Gene)
ASFNEDFBASF2SF2p33SFRS1SRp30a
Chromosome 17
Chromosome location 17q22
Summary 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.
1251
miRTarBase ID miRNA Experiments Reference
MIRT004497 hsa-miR-7-5p qRT-PCRLuciferase reporter assayWestern blotNorthern 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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Activation 22545246
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IDA 8940107
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000395 Process MRNA 5'-splice site recognition IDA 8940107, 9885563
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600812 10780 ENSG00000136450
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Pathogenic; Likely pathogenic rs2509287238, rs2509287701, rs911995391, rs2509287599, rs2509285683, rs2509284749, rs1477879201, rs2509290322, rs2509290420, rs2509284731 RCV003151456
RCV003151457
RCV003151458
RCV003151459
RCV003151462
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Pathogenic; Likely pathogenic rs2509287238, rs2509287701, rs911995391, rs2509287599, rs2509285683, rs2509284749, rs1477879201, rs2509290322, rs2509290420, rs2509284731 RCV003151456
RCV003151457
RCV003151458
RCV003151459
RCV003151462
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities Pathogenic; Likely pathogenic rs2509287599, rs2509285683, rs2509284749, rs2509290322 RCV003325246
RCV003325247
RCV003325248
RCV003325249
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 25176346
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23071587, 24371231
★☆☆☆☆
Found in Text Mining only
Afibrinogenemia Afibrinogenemia Pubtator 16611940 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31208978 Associate
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 30030189
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25904137
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35751199 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25904137
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 25904137 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31487268
★☆☆☆☆
Found in Text Mining only