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Protein Coding Gene : Esrp1 epithelial splicing regulatory protein 1

Primary Identifier  MGI:1917326 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  207920
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable mRNA binding activity. Involved in regulation of RNA splicing and regulation of inner ear auditory receptor cell fate specification. Acts upstream of or within alternative mRNA splicing, via spliceosome; morphogenesis of a branching epithelium; and positive regulation of epithelial cell proliferation. Predicted to be located in nuclear body. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. Is expressed in several structures, including alimentary system; branchial arch; embryo ectoderm; extraembryonic component; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 109. Orthologous to human ESRP1 (epithelial splicing regulatory protein 1).
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit hyperactivity and circling with no detectable hearing deficits. Mice homozygous for a null allele exhibit bilateral cleft lip and cleft palate, and die at P0. [provided by MGI curators]
  • synonyms:
  • Esrp1,
  • RIKEN cDNA 2210008M09 gene,
  • RNA binding motif protein 35A,
  • MGI:2671951,
  • MGC:25805,
  • epithelial splicing regulatory protein 1,
  • cDNA sequence BC031468,
  • 2210008M09Rik,
  • Rbm35a,
  • BC031468

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