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

Gene ID: 26926, updated on 4-Jan-2025

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, Jan 2025]
Expression
Ubiquitous expression in placenta adult (RPKM 23.1), liver E18 (RPKM 21.7) and 28 other tissues See more
Orthologs
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Genomic context

See Aifm1 in Genome Data Viewer
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_000086.8Genomic Context describing neighboring genes Neighboring gene BCL6 co-repressor-like 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:45782874-45783027 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:45786781-45786934 Neighboring gene E74 like ETS transcription factor 4 Neighboring gene STARR-seq mESC enhancer starr_47122 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene zinc finger protein 280C

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Spontaneous (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC5706

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding PubMed 
enables DNA binding  
enables FAD binding  
enables FAD binding PubMed 
enables FAD binding  
enables NAD(P)H oxidase H2O2-forming activity  
enables NAD(P)H oxidase H2O2-forming activity PubMed 
enables NAD(P)H oxidase H2O2-forming activity  
enables NADH dehydrogenase activity  
enables electron-transferring-flavoprotein dehydrogenase activity PubMed 
enables oxidoreductase activity, acting on NAD(P)H  
enables poly-ADP-D-ribose binding PubMed 
enables protein binding PubMed 
enables protein dimerization activity  
Items 1 - 25 of 29
Process Evidence Code Pubs
acts_upstream_of_or_within apoptotic mitochondrial changes PubMed 
involved_in apoptotic process  
involved_in apoptotic process  
involved_in cellular response to aldosterone  
involved_in cellular response to estradiol stimulus  
involved_in cellular response to hydrogen peroxide  
involved_in cellular response to hypoxia  
involved_in cellular response to nitric oxide  
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress PubMed 
involved_in mitochondrial respiratory chain complex I assembly  
involved_in mitochondrial respiratory chain complex assembly  
involved_in mitochondrial respiratory chain complex assembly PubMed 
involved_in mitochondrial respiratory chain complex assembly  
acts_upstream_of_or_within neuron apoptotic process PubMed 
involved_in neuron differentiation  
involved_in positive regulation of apoptotic process PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity  
involved_in positive regulation of cysteine-type endopeptidase activity  
involved_in positive regulation of necroptotic process PubMed 
involved_in positive regulation of neuron apoptotic process  
involved_in positive regulation of neuron apoptotic process  
involved_in protein import into mitochondrial intermembrane space PubMed 
involved_in protein import into mitochondrial intermembrane space  
acts_upstream_of_or_within regulation of apoptotic DNA fragmentation PubMed 
involved_in respiratory electron transport chain  
involved_in response to L-glutamate  
involved_in response to ischemia  
involved_in response to oxidative stress PubMed 
involved_in response to toxic substance  
Items 1 - 25 of 29
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol PubMed 
located_in mitochondrial inner membrane  
located_in mitochondrial intermembrane space  
located_in mitochondrial intermembrane space  
located_in mitochondrial intermembrane space PubMed 
located_in mitochondrial outer membrane PubMed 
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 
located_in mitochondrion  
is_active_in nucleus PubMed 
located_in nucleus PubMed 
located_in nucleus PubMed 
located_in nucleus  
located_in perinuclear region of cytoplasm  

General protein information

Preferred Names
apoptosis-inducing factor 1, mitochondrial
Names
harlequin
programmed cell death protein 8
NP_001277293.1
NP_036149.1

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)

  1. NM_001290364.1NP_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:297381
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:145442
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:460588
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
  2. NM_012019.3NP_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:301385
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:149446
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:464592
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    cl00057
    Location:47121
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    47563821..47602440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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