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Gene : AFG1L Homo sapiens

Name  ? AFG1 like ATPase Cytological Location  6q21
Brief Description  AFG1 like ATPase
Description  This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
  • synonyms:
  • uc003psj.4,
  • lactation elevated 1,
  • AFG1,
  • LACE1,
  • c222389,
  • LACE1,
  • AFG1,
  • NM_145315,
  • HGNC:16411,
  • AF520418,
  • OTTHUMG00000015324,
  • ATPase family gene 1 homolog (S. cerevisiae),
  • AFG1L
  • identifiers:
  • 246269,
  • ENSG00000135537,
  • AFG1L

Genome feature

Region: gene ? Length: 231121  
Location: 6:108294881-108526001 Cyto location: 6q21

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Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Structure Displayer

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

260 SNPs

5 Cross References

15 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results