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Gene

SRSF1

serine and arginine rich splicing factor 1

Summary

Cytogenetic location
17q22
Coordinates
Chromosome 17: 58,000,919–58,007,246 (GRCh38)
Exons
4 exons across 6.3 kb
Protein
248 amino acids
Also known as
ASF, SF2, SRp30a, SF2p33, MGC5228
Previous symbols
SFRS1
MANE Select transcript
ENST00000258962.5NM_006924.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads SRSF1 yet. The test sequences your whole genome, so your data includes it all the same.

How SRSF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where SRSF1 sits. SRSF1 and 19 genes near it on chromosome 17, from 57,504,083 to 58,504,082.Chromosome 1717q22p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.357.6 Mb57.8 Mb58 Mb58.2 Mb58.4 MbMSI2: 57,255,851–57,684,689, forward strandMSI2CCDC182: 57,744,495–57,745,299, reverse strandCCDC182MRPS23: 57,834,781–57,850,076, reverse strandMRPS23CUEDC1: 57,861,231–57,955,851, reverse strandCUEDC1VEZF1: 57,971,547–57,988,389, reverse strandVEZF1: 57,989,038–58,007,246, reverse strandSRSF1: 58,000,919–58,007,246, reverse strandSRSF1DYNLL2: 58,082,825–58,095,542, forward strandDYNLL2OR4D1: 58,148,384–58,159,585, forward strandOR4D1OR4D2: 58,166,982–58,171,411, forward strandOR4D2EPX: 58,192,726–58,205,174, forward strandEPXMKS1: 58,205,350–58,219,605, reverse strandMKS1LPO: 58,218,548–58,268,518, forward strandLPOMPO: 58,269,855–58,280,935, reverse strandMPOTSPOAP1: 58,301,228–58,328,823, reverse strandTSPOAP1SUPT4H1: 58,345,175–58,353,099, reverse strandSUPT4H1: 58,345,206–58,417,595, reverse strandRNF43: 58,353,671–58,417,735, reverse strandRNF43HSF5: 58,420,167–58,488,408, reverse strandHSF5MTMR4: 58,489,529–58,517,905, reverse strandMTMR4Diagram of SRSF1: 4 exons on the reverse strand of chromosome 17Exon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 1: 1 known disease-causing siteExon 4: 58,000,919–58,005,600, 4,682 basesExon 3: 58,005,801–58,005,973, 173 basesExon 2: 58,006,343–58,006,527, 185 basesExon 1: 58,006,944–58,007,246, 303 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.3 kb of the gene's 6.3 kb; 747 of those bases code for the protein.

How a genome test reads SRSF1

5

positions in SRSF1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 6.3 kb of SRSF1, introns included, not only the 5.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SRSF1 gene: serine and arginine rich splicing factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/srsf1

Vancouver

Dante Labs. SRSF1 gene: serine and arginine rich splicing factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/srsf1

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