SRSF1 serine and arginine rich splicing factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRSF1provided by HGNC
Official Full Name: serine and arginine rich splicing factor 1provided by HGNC
Primary source: HGNC:HGNC:10780
See related: Ensembl:ENSG00000136450 MIM:600812; AllianceGenome:HGNC:10780
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASF; SF2; SFRS1; NEDFBA; SF2p33; SRp30a
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 found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]
Expression: Ubiquitous expression in lymph node (RPKM 44.8), appendix (RPKM 40.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (57989038..58007246, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (58863040..58881254, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56066399..56084607, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alternative splicing-related long noncoding RNA ANRIL facilitates hepatocellular carcinoma by targeting the miR-199a-5p/SRSF1 axis and impacting Anillin.
Title: Alternative splicing-related long noncoding RNA ANRIL facilitates hepatocellular carcinoma by targeting the miR-199a-5p/SRSF1 axis and impacting Anillin.
The U1-70K and SRSF1 interaction is modulated by phosphorylation during the early stages of spliceosome assembly.
Title: The U1-70K and SRSF1 interaction is modulated by phosphorylation during the early stages of spliceosome assembly.
High expression of SRSF1 facilitates osteosarcoma progression and unveils its potential mechanisms.
Title: High expression of SRSF1 facilitates osteosarcoma progression and unveils its potential mechanisms.
SRSF1 interactome determined by proximity labeling reveals direct interaction with spliceosomal RNA helicase DDX23.
Title: SRSF1 interactome determined by proximity labeling reveals direct interaction with spliceosomal RNA helicase DDX23.
Unearthing a novel function of SRSF1 in binding and unfolding of RNA G-quadruplexes.
Title: Unearthing a novel function of SRSF1 in binding and unfolding of RNA G-quadruplexes.
RNA Binding Proteins that Mediate LPS-induced Alternative Splicing of the MyD88 Innate Immune Regulator.
Title: RNA Binding Proteins that Mediate LPS-induced Alternative Splicing of the MyD88 Innate Immune Regulator.
Circ_0001786 facilitates gefitinib resistance and malignant progression in non-small cell lung cancer via miR-34b-5p/SRSF1.
Title: Circ_0001786 facilitates gefitinib resistance and malignant progression in non-small cell lung cancer via miR-34b-5p/SRSF1.
TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Title: TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
Splicing Factor SRSF1 Promotes Pancreatitis and KRASG12D-Mediated Pancreatic Cancer.
Title: Splicing Factor SRSF1 Promotes Pancreatitis and KRASG12D-Mediated Pancreatic Cancer.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Title: SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Submit: New GeneRIF Correction See all GeneRIFs (163)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MedGen: C5882684 OMIM: 620489 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify serine/arginine-rich splicing factor 1 (SRSF1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	gag	ASF/SF2 binds to the cis enhancing sequence (CES) in the gp41 region and enhances Gag expression	PubMed
Rev	rev	SF2/ASF has been shown to inhibit Rev function in a dose-dependent fashion	PubMed
	rev	interaction of Rev with SF2/ASF is apparently mediated by complement component 1, q subcomponent binding protein (C1QBP, p32) which associates with SF2/ASF and binds to Rev	PubMed
	rev	SF2/ASF binds to RRE RNA in a Rev-dependent manner, an interaction that is associated with Rev inhibition of HIV-1 mRNA splicing	PubMed
	rev	SF2/ASF and SRp40 interact with a purine-rich motif within the HIV-1 exon 5, and this interaction activates splicing at an upstream 3' splice site and binding of the 5' splice site to U1 snRNP, which are required for splicing of HIV-1 rev and nef mRNAs	PubMed
Tat	tat	Serine/arginine-rich splicing factor 1 (SRSF1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS	PubMed
	tat	HIV-1 Tat competes with SRSF1 for binding to overlapping sequences within TAR and 7SK RNA	PubMed
	tat	SRSF1 (serine/arginine-rich splicing factor 1) inhibits HIV-1 Tat-mediated transactivation activity in HEK293 cells, which is dependent on the HIV-1 LTR promoter and the SRSF1 RNA recognition motifs	PubMed
	tat	HIV-1 Tat mediated splicing is regulated by activating the SF2-dependent GAR enhancer rather than repressing usage of the upstream ESE/ESS2 element	PubMed
	tat	HIV-1 Tat synergizes with type I activators, such as Sp1 and CTF, to enhance transcript elongation and exon skipping, suggesting Tat function leads to the inhibition of splicing factors SF2/ASF and 9G8	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310730P5 (e-PCR)
- UniSTS:272663

MARC_12219-12220:1004719985:1 (e-PCR)
- UniSTS:267370

MARC_10441-10442:999637620:1 (e-PCR)
- UniSTS:267141

STS-N39109 (e-PCR)
- UniSTS:29865

WI-18389 (e-PCR)
- UniSTS:16056

Clone Names

MGC5228, FLJ30048, FLJ37793, FLJ44342, FLJ53078

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA topoisomerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase B binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in alternative mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in mRNA 5'-splice site recognition	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA processing	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splice site recognition	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in regulation of RNA splicing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine/arginine-rich splicing factor 1

Names: SR splicing factor 1; alternative-splicing factor 1; pre-mRNA-splicing factor SF2, P33 subunit; splicing factor 2; splicing factor, arginine/serine-rich, 30-KD, A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001078166.2 → NP_001071634.1 serine/arginine-rich splicing factor 1 isoform 2

See identical proteins and their annotated locations for NP_001071634.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2, also known as ASF-3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AB209558, AC015813, CB044653, DA939911

Consensus CDS

CCDS58580.1

UniProtKB/TrEMBL

Q59FA2

Related

ENSP00000462215.1, ENST00000582730.6

Conserved Domains (2) summary

cd12597
Location:17 → 90

RRM1_SRSF1; RNA recognition motif 1 in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins

cl17169
Location:121 → 190

RRM_SF; RNA recognition motif (RRM) superfamily
NM_006924.5 → NP_008855.1 serine/arginine-rich splicing factor 1 isoform 1

See identical proteins and their annotated locations for NP_008855.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1, also known as ASF-1).

Source sequence(s)

AC015813, BC010264, CB044653, DA939911

Consensus CDS

CCDS11600.1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809

UniProtKB/TrEMBL

A8K1L8

Related

ENSP00000258962.4, ENST00000258962.5

Conserved Domains (2) summary

cd12597
Location:12 → 90

RRM1_SRSF1; RNA recognition motif 1 (RRM1) found in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins

cd12767
Location:113 → 196

RRM2_SRSF1; RNA recognition motif 2 (RRM2) found in serine/arginine-rich splicing factor 1 (SRSF1) and similar proteins

RNA

NR_034041.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC015813, BC033785, CB044653, DA939911
NR_182661.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC015813

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

57989038..58007246 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436526.1 → XP_047292482.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436527.1 → XP_047292483.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436525.1 → XP_047292481.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436524.1 → XP_047292480.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436528.1 → XP_047292484.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436523.1 → XP_047292479.1 serine/arginine-rich splicing factor 1 isoform X1

UniProtKB/Swiss-Prot

B2R6Z7, D3DTZ3, Q07955, Q13809
XM_047436529.1 → XP_047292485.1 serine/arginine-rich splicing factor 1 isoform X2