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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:
  • LACE1,
  • AFG1,
  • AF520418,
  • c222389,
  • lactation elevated 1,
  • NM_145315,
  • HGNC:16411,
  • uc003psj.4,
  • AFG1L,
  • AFG1,
  • OTTHUMG00000015324,
  • LACE1,
  • ATPase family gene 1 homolog (S. cerevisiae)
  • identifiers:
  • 246269,
  • ENSG00000135537,
  • AFG1L

Genome feature

Region: gene ? Length: 230911  
Location: 6:108294874-108525784 Cyto location: 6q21


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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

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]

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

77 SN Ps

5 Cross References

15 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results