SRSF1 - serine and arginine rich splicing factor 1 Gene

Homo sapiens

Also known as ASF; SF2; SFRS1; SF2p33; SRp30a

Gene ID: 6426 | Gene type: protein coding

About SRSF1

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:57,989,038-58,007,246 (from NCBI)

This gene has 9 transcripts (splice variants), 239 orthologues, 8 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 44.8), appendix (RPKM 40.8) and 25 other tissues.

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]

SRSF1 Products(2)

mRNA	Protein	Name
NM_001078166.2	NP_001071634.1	serine/arginine-rich splicing factor 1 isoform 2
NM_006924.5	NP_008855.1	serine/arginine-rich splicing factor 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA topoisomerase binding	IPI IPI: Inferred from physical interaction	9611241	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	19561594	GOA
enables RNA binding	IPI IPI: Inferred from physical interaction	20797886	GOA
enables mRNA binding	IDA IDA: Inferred from direct assay	21984414	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9237760	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	8940107	GOA
involved in mRNA 5'-splice site recognition	IDA IDA: Inferred from direct assay	8940107	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24449914	GOA
part of exon-exon junction complex	IDA IDA: Inferred from direct assay	16314458	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	20797886	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	9885563	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21984414	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRSF1 Protein Structure

RRM_1

0
100
200
248 a.a.

Protein Preferred Names

Protein Names

serine/arginine-rich splicing factor 1

SR splicing factor 1

SRSF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SRSF1	Q07955	SNRNP70	Homo sapiens	P08621	Anti Tag CoIP	33961781
Intra	SRSF1	Q07955	NXF1	Homo sapiens	Q9UBU9	Pull Down	15184380
Intra	SRSF1	Q07955	NXF1	Homo sapiens	Q9UBU9	Y2H	21988832
Intra	SRSF1	Q07955	NXF1	Homo sapiens	Q9UBU9	CoIP	15184380
Intra	SRSF1	Q07955	TRAF5	Homo sapiens	O00463	Anti Tag CoIP	21822258
Intra	SRSF1	Q07955	SRPK1	Homo sapiens	Q96SB4	Affinity Chrom	10196197
Intra	SRSF1	Q07955	SRPK1	Homo sapiens	Q96SB4	Protein Kinase Assay	23602568
Intra	SRSF1	Q07955	SRPK2	Homo sapiens	P78362	Anti Tag CoIP	33961781
Intra	SRSF1	Q07955	SRPK2	Homo sapiens	P78362	Protein Kinase Assay	23602568
Cross	SRSF1	Q07955	Srpk1	Mus musculus	O70551	Far-WB	10196197
Cross	SRSF1	Q07955	Srpk1	Mus musculus	O70551	Anti Tag CoIP	10196197
Intra	SRSF1	Q07955	CIR1	Homo sapiens	Q86X95	Y2H	15652350
Intra	SRSF1	Q07955	CIR1	Homo sapiens	Q86X95	Anti Tag CoIP	15652350
Intra	SRSF1	Q07955	TRA2B	Homo sapiens	P62995	Y2H Array	32296183
Intra	SRSF1	Q07955	TRA2B	Homo sapiens	P62995	Y2H Prey Pooling	32296183
Intra	SRSF1	Q07955	U2AF2	Homo sapiens	P26368	Anti Tag CoIP	33961781
Intra	SRSF1	Q07955	U2AF2	Homo sapiens	P26368	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SRSF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700524	SRSF1 Protein, Human (His-SUMO)	Q07955-1 (S2-T248)	≥95%

Related Diseases

Diseases

Alias

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

Retinal Melanoma

Malignant Retinal Melanoma

Malignant Melanoma Of Retina

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D	Xpdc
Xeroderma Pigmentosum Iv	XPD
Xeroderma Pigmentosum Group D	Xeroderma Pigmentosum Viii
Xp Group D	Xp Group H
Xp4	Xp8
Xph	Xp, Group D
Xp4 Xeroderma Pigmentosum Viii, Formerly	Xp8, Formerly
Xp, Group H, Formerly	Xph, Formerly
Xeroderma Pigmentosum Complementation Group D	XP-D
Xp-D/Cs

Unilateral Focal Polymicrogyria

Deafness, Autosomal Recessive 110

DFNB110	Autosomal Recessive Nonsyndromic Deafness 110
Autosomal Recessive Deafness 110	Deafness, Autosomal Recessive, 110

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117661	SPHINX31	Inhibitor	99.13%	Unkown
HY-RS13790	SRSF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SRSF1	VGNC	VGNC:99464
Mus musculus	SRSF1	MGD	MGI:98283
Canis familiaris	SRSF1	VGNC	VGNC:46816
Rattus norvegicus	SRSF1	RGD	RGD:1587490
Bos taurus	SRSF1	VGNC	VGNC:35297
Others	SRSF1	NCBI

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