Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aifm1provided by MGI
Official Full Name: apoptosis-inducing factor, mitochondrion-associated 1provided by MGI
Primary source: MGI:MGI:1349419
See related: Ensembl:ENSMUSG00000036932 AllianceGenome:MGI:1349419
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hq; AIF; Pdcd8; AIFsh2
Summary: Enables several functions, including FAD binding activity; NAD(P)H oxidase H2O2-forming activity; and poly-ADP-D-ribose binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; positive regulation of necroptotic process; and protein import into mitochondrial intermembrane space. Acts upstream of or within neuron apoptotic process and regulation of apoptotic DNA fragmentation. Located in cytosol and mitochondrion. Is active in nucleus. Is expressed in several structures, including cerebral cortex; early embryo; long bone epiphyseal plate; retina; and submandibular gland primordium epithelium. 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 human AIFM1 (apoptosis inducing factor mitochondria associated 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 23.1), liver E18 (RPKM 21.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A5; X 25.68 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (47563821..47602440, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (48474944..48513563, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.
Title: AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.
SIRT5-related desuccinylation modification of AIFM1 protects against compression-induced intervertebral disc degeneration by regulating mitochondrial homeostasis.
Title: SIRT5-related desuccinylation modification of AIFM1 protects against compression-induced intervertebral disc degeneration by regulating mitochondrial homeostasis.
AIFM1, negatively regulated by miR-145-5p, aggravates hypoxia-induced cardiomyocyte injury.
Title: AIFM1, negatively regulated by miR-145-5p, aggravates hypoxia-induced cardiomyocyte injury.
AIF Overexpression Aggravates Oxidative Stress in Neonatal Male Mice After Hypoxia-Ischemia Injury.
Title: AIF Overexpression Aggravates Oxidative Stress in Neonatal Male Mice After Hypoxia-Ischemia Injury.
The mitochondrial protease LONP1 maintains oocyte development and survival by suppressing nuclear translocation of AIFM1 in mammals.
Title: The mitochondrial protease LONP1 maintains oocyte development and survival by suppressing nuclear translocation of AIFM1 in mammals.
[Lycium barbarum polysaccharide reduces testicular spermatogenic injury in Immp2l/mice through GPX4 and AIF pathways].
Title: [Lycium barbarum polysaccharide reduces testicular spermatogenic injury in Immp2l－/－mice through GPX4 and AIF pathways].
AIF3 splicing switch triggers neurodegeneration.
Title: AIF3 splicing switch triggers neurodegeneration.
Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy.
Title: Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy.
Mitochondrial AIF loss causes metabolic reprogramming, caspase-independent cell death blockade, embryonic lethality, and perinatal hydrocephalus.
Title: Mitochondrial AIF loss causes metabolic reprogramming, caspase-independent cell death blockade, embryonic lethality, and perinatal hydrocephalus.
Ligand Binding in Allosteric Flavoproteins: Part 2. Quantitative Analysis of the Redox-Dependent Interaction of the Apoptosis-Inducing Factor (AIF) with Its Protein Partner.
Title: Ligand Binding in Allosteric Flavoproteins: Part 2. Quantitative Analysis of the Redox-Dependent Interaction of the Apoptosis-Inducing Factor (AIF) with Its Protein Partner.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables FAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables FAD binding	IDA Inferred from Direct Assay more info	PubMed
enables FAD binding	ISO Inferred from Sequence Orthology more info
enables NAD(P)H oxidase H2O2-forming activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD(P)H oxidase H2O2-forming activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD(P)H oxidase H2O2-forming activity	ISO Inferred from Sequence Orthology more info
enables NADH dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables electron-transferring-flavoprotein dehydrogenase activity	TAS Traceable Author Statement more info	PubMed
enables oxidoreductase activity, acting on NAD(P)H	ISO Inferred from Sequence Orthology more info
enables poly-ADP-D-ribose binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic mitochondrial changes	TAS Traceable Author Statement more info	PubMed
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in cellular response to aldosterone	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitric oxide	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of necroptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in protein import into mitochondrial intermembrane space	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of apoptotic DNA fragmentation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
involved_in response to L-glutamate	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	TAS Traceable Author Statement more info	PubMed
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apoptosis-inducing factor 1, mitochondrial

Names: harlequin; programmed cell death protein 8

NP_001277293.1

EC 1.1.1.-

NP_036149.1

EC 1.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290364.1 → NP_001277293.1 apoptosis-inducing factor 1, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001277293.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA261021, AF100927, AL669901, BY250260

Consensus CDS

CCDS72375.1

UniProtKB/TrEMBL

B1AU25

Related

ENSMUSP00000110595.3, ENSMUST00000114945.9

Conserved Domains (3) summary

pfam00070
Location:297 → 381

Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

pfam07992
Location:145 → 442

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14721
Location:460 → 588

AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
NM_012019.3 → NP_036149.1 apoptosis-inducing factor 1, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_036149.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA261021, AF100927, AK133764, AL669901

Consensus CDS

CCDS30109.1

UniProtKB/Swiss-Prot

Q1L6K5, Q9Z0X1

Related

ENSMUSP00000041104.8, ENSMUST00000037349.8

Conserved Domains (4) summary

pfam00070
Location:301 → 385

Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase

pfam07992
Location:149 → 446

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14721
Location:464 → 592

AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term

cl00057
Location:47 → 121

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...