Aifm1 - apoptosis-inducing factor, mitochondrion-associated 1 Gene

Also Known as Hq; AIF; Pdcd8; AIFsh2

Species: Mus musculus

Gene Type: protein coding

Gene ID: 26926

Summary

Enables DNA binding activity; FAD binding activity; and NAD(P)H oxidase H2O2-forming activity. Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; mitochondrion organization; and positive regulation of cell death. Acts upstream of or within neuron apoptotic process and regulation of apoptotic DNA fragmentation. Located in cytosol; mitochondrion; and nucleus. Is expressed in several structures, including early embryo; liver; and retina. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined Oxidative Phosphorylation deficiency 6. Orthologous to several human genes including TXNDC12 (thioredoxin domain containing 12). [provided by Alliance of Genome Resources, Apr 2022]

Aifm1 Products (2)

mRNA	Protein	Name
NM_001290364.1	NP_001277293.1	apoptosis-inducing factor 1, mitochondrial isoform 2
NM_012019.3	NP_036149.1	apoptosis-inducing factor 1, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	21467298	MGI
enables FAD binding	IDA IDA: Inferred from direct assay	21467298	MGI
enables NAD(P)H oxidase H2O2-forming activity	IDA IDA: Inferred from direct assay	21467298	MGI
enables poly-ADP-D-ribose binding	IDA IDA: Inferred from direct assay	21467298	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	18056262	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	18056262	MGI
involved in mitochondrial respiratory chain complex assembly	IMP IMP: Inferred from mutant phenotype	26004228	MGI
acts upstream of or within neuron apoptotic process	IGI IGI: Inferred from genetic interaction	15703386	MGI
involved in positive regulation of necroptotic process	IDA IDA: Inferred from direct assay	12114629	MGI
involved in protein import into mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	26004228	MGI
acts upstream of or within regulation of apoptotic DNA fragmentation	IGI IGI: Inferred from genetic interaction	15703386	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14707049	MGI
located in cytosol	IDA IDA: Inferred from direct assay	18056262	MGI
located in mitochondrion	IDA IDA: Inferred from direct assay	15271982	MGI
located in mitochondrion	IMP IMP: Inferred from mutant phenotype	21467298	MGI
is active in nucleus	IDA IDA: Inferred from direct assay	12114629	MGI
located in nucleus	IDA IDA: Inferred from direct assay	14707049	MGI
located in nucleus	IMP IMP: Inferred from mutant phenotype	21467298	MGI

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

Protein Preferred Names	Protein Names
apoptosis-inducing factor 1, mitochondrial	harlequin programmed cell death protein 8

Aifm1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Aifm1	Q9Z0X1	H2ax	Mus musculus	P27661	Anti Bait CoIP	20360685
Intra	Aifm1	Q9Z0X1	Tsc22d4	Mus musculus	Q9EQN3	Cosedimentation	23305244
Intra	Aifm1	Q9Z0X1	Tsc22d4	Mus musculus	Q9EQN3	Anti Bait CoIP	23305244

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-180948	PZ-11	Inducer	/	Unkown
HY-RS00492	AIFM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19406	Aifm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25898	Aifm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Aifm1	NCBI	NCBI:9131