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Protein Coding Gene : Appl1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Primary Identifier  MGI:1920243 Organism  mouse, laboratory
Chromosome  14 NCBI Gene Number  72993
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to hepatocyte growth factor stimulus; positive regulation of cytokine production involved in inflammatory response; and regulation of endocytosis. Located in cytoplasmic vesicle and ruffle. Is expressed in several structures, including liver; muscle tissue; spleen; stomach; and testis. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1).
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
  • synonyms:
  • AW209077,
  • MGI:1925392,
  • MGI:2145880,
  • expressed sequence BB022931,
  • adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1,
  • C88264,
  • BB022931,
  • MGI:2145804,
  • expressed sequence AW209077,
  • expressed sequence AI585782,
  • MGI:2145674,
  • expressed sequence C88264,
  • AI585782,
  • 2900057D21Rik,
  • MGI:2145845,
  • RIKEN cDNA 2900057D21 gene,
  • Appl1,
  • 7330406P05Rik,
  • RIKEN cDNA 7330406P05 gene

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