AFG1L - AFG1 like ATPase Gene

Also Known as AFG1; LACE1; c222389

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 246269

Summary

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]
Broad expression in testis (RPKM 1.7), kidney (RPKM 1.0) and 25 other tissues.

AFG1L Products (2)

mRNA Protein Name
NM_001323005.2 NP_001309934.1 AFG1-like ATPase isoform b
NM_145315.5 NP_660358.2 AFG1-like ATPase isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial electron transport, cytochrome c to oxygen IMP
IMP: Inferred from mutant phenotype
27323408 GOA
involved in mitochondrial protein catabolic process IMP
IMP: Inferred from mutant phenotype
26759378 GOA
involved in mitochondrion organization IMP
IMP: Inferred from mutant phenotype
26759378 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
26759378 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
27323408 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AFG1L Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AFG1L Q8WV93 CIDEB Homo sapiens Q9UHD4
Y2H Prey Pooling
32296183
Intra
AFG1L Q8WV93 CIDEB Homo sapiens Q9UHD4
Validated Y2H
32296183
Intra
AFG1L Q8WV93 CIDEB Homo sapiens Q9UHD4
Y2H Array
32296183
Intra
AFG1L Q8WV93 BANP Homo sapiens Q8N9N5
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction