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Protein Coding Gene : Spart spartin

Primary Identifier  MGI:2139806 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  229285
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable lipid binding activity and ubiquitin protein ligase binding activity. Involved in lipophagy. Acts upstream of or within several processes, including adipose tissue development; negative regulation of BMP signaling pathway; and negative regulation of collateral sprouting in absence of injury. Located in lipid droplet and synapse. Is expressed in dorsal root ganglion; olfactory epithelium; and trigeminal ganglion. Used to study Troyer syndrome. Human ortholog(s) of this gene implicated in Troyer syndrome. Orthologous to human SPART (spartin).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination. [provided by MGI curators]
  • synonyms:
  • Spg20,
  • expressed sequence C79168,
  • AI840044,
  • expressed sequence AI840044,
  • spastic paraplegia 20, spartin (Troyer syndrome) homolog (human),
  • TAHCCP1,
  • MGI:7413984,
  • MGI:2140061,
  • Spart,
  • mKIAA0610,
  • C79168,
  • spartin

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 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

0 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