2. Gene
  3. SRSF1 - serine and arginine rich splicing factor 1 Gene

SRSF1 - serine and arginine rich splicing factor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (18 - 85)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (123 - 184)

  • 0
  • 100
  • 200
  • 248 a.a.
Protein Preferred Names Protein Names

serine/arginine-rich splicing factor 1

SR splicing factor 1

Recombinant SRSF1 Proteins

Cat. No. Product Name Accession Purity
HY-P700524 SRSF1 Protein, Human (His-SUMO) Q07955 (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