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Protein Coding Gene : Myo5a myosin VA

Primary Identifier  MGI:105976 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  17918
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to insulin stimulus; establishment of endoplasmic reticulum localization to postsynapse; and regulation of postsynaptic cytosolic calcium ion concentration. Acts upstream of or within several processes, including melanin biosynthetic process; melanosome transport; and secretion by cell. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and photoreceptor outer segment. Part of unconventional myosin complex. Is active in glutamatergic synapse; postsynapse; and smooth endoplasmic reticulum. Is expressed in several structures, including central nervous system; peripheral nervous system ganglion; retina; secondary oocyte; and stomach. Used to study Griscelli syndrome type 1. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA).
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
  • synonyms:
  • d,
  • MGI:2143108,
  • Myo5,
  • MGI:2143030,
  • AI661011,
  • MVa,
  • flail,
  • MGD-MRK-8805,
  • MGD-MRK-33656,
  • myosin V,
  • Dbv,
  • expressed sequence AI661011,
  • MGD-MRK-28030,
  • Myo5a,
  • myosin VA,
  • MGD-MRK-14365,
  • AI413174,
  • RIKEN cDNA 9630007J19 gene,
  • 9630007J19Rik,
  • MyoVA,
  • expressed sequence AI413174,
  • MGD-MRK-2338,
  • dilute,
  • nmf244,
  • MGI:1096356,
  • flr,
  • flailer,
  • MGI:1343057

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For