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Protein Coding Gene : Srsf1 serine and arginine-rich splicing factor 1

Primary Identifier  MGI:98283 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  110809
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables RS domain binding activity and mRNA binding activity. Involved in interleukin-17-mediated signaling pathway; protein localization to organelle; and regulation of gene expression. Acts upstream of or within RNA splicing; cardiac muscle contraction; and in utero embryonic development. Located in nuclear speck. Is expressed in several structures, including alimentary system; central nervous system; liver; sensory organ; and thymus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities. Orthologous to human SRSF1 (serine and arginine rich splicing factor 1).
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]
  • synonyms:
  • MGI:2144540,
  • MGI:1917883,
  • MGI:1917974,
  • RIKEN cDNA 1110054N12 gene,
  • RIKEN cDNA 6330415C05 gene,
  • Sfrs1,
  • AW491331,
  • expressed sequence AW491331,
  • RIKEN cDNA 5730507C05 gene,
  • 6330415C05Rik,
  • splicing factor, arginine/serine-rich 1 (ASF/SF2),
  • MGD-MRK-14371,
  • serine and arginine-rich splicing factor 1,
  • AI482334,
  • MGI:1916007,
  • 5730507C05Rik,
  • expressed sequence AI482334,
  • Srsf1,
  • MGI:2144200,
  • 1110054N12Rik

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4 Involved In Mutations

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11 Pathways

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