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Gene : ATL1 Homo sapiens

Name  ? atlastin GTPase 1 Cytological Location  14q22.1
Brief Description  atlastin GTPase 1
Description  The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • spastic paraplegia 3A (autosomal dominant),
  • ATL1,
  • SPG3A,
  • SPG3,
  • uc059bjs.1,
  • NM_001127713,
  • atlastin,
  • OTTHUMG00000140297,
  • GBP3,
  • SPG3A,
  • HSN1D,
  • AD-FSP,
  • FSP1,
  • AF131801,
  • AD-FSP,
  • HGNC:11231,
  • SPG3,
  • FSP1,
  • atlastin1
  • identifiers:
  • 51062,
  • ENSG00000198513,
  • ATL1

Genome feature

Region: gene ? Length: 99987  
Location: 14:50533082-50633068 Cyto location: 14q22.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

24 SN Ps

5 Cross References

18 Data Sets

16 Homologues

0 Located Features

97 Rna Seq Results