Aifm2 apoptosis-inducing factor, mitochondrion-associated 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aifm2provided by MGI
Official Full Name: apoptosis-inducing factor, mitochondrion-associated 2provided by MGI
Primary source: MGI:MGI:1918611
See related: Ensembl:ENSMUSG00000020085 AllianceGenome:MGI:1918611
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: Amid; FSP1; PRG3; 5430437E11Rik; D730001I10Rik
Summary: Predicted to enable several functions, including electron-transferring-flavoprotein dehydrogenase activity; flavin adenine dinucleotide binding activity; and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. Involved in regulation of cellular response to oxidative stress. Located in mitochondrial membrane and nucleus. Is expressed in adrenal medulla; central nervous system; and retina. Orthologous to human AIFM2 (apoptosis inducing factor mitochondria associated 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 65.8), bladder adult (RPKM 44.5) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 32.27 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (61551042..61575474)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (61715263..61739260)

Chromosome 10 - NC_000076.7 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?

Ferroptosis of macrophages facilitates bone loss in apical periodontitis via NRF2/FSP1/ROS pathway.
Title: Ferroptosis of macrophages facilitates bone loss in apical periodontitis via NRF2/FSP1/ROS pathway.
Metabolomic profiling identifies a novel mechanism for heat strokerelated acute kidney injury.
Title: Metabolomic profiling identifies a novel mechanism for heat stroke‑related acute kidney injury.
the brain-specific isoform of AIF, AIF-2, constitutively expressed in mouse hippocampal HT22 cell lines, where it exerts protective effects against oxygen and glucose deprivation-induced mitochondrial dysfunction, oxidative stress and apoptosis through inhibiting the nuclear translocation of AIF-1.
Title: A brain-specific isoform of apoptosis-inducing factor 2 attenuates ischemia-induced oxidative stress in HT22 cells.
4-hydroxy-2-nonenal adduction of AIFm2 shifts the function of AIFm2 from an NADH oxidoreductase to a proapototic protein.
Title: Novel role of 4-hydroxy-2-nonenal in AIFm2-mediated mitochondrial stress signaling.
Aifm2 may function in differentiation of erythroid murine erythroleukemia line cells in vitro.
Title: Apoptosis-inducing Factor, Mitochondrion-associated 2, Regulates Klf1 in a Mouse Erythroleukemia Cell Line.
Results demonstrate nuclear AIF translocation only in PARG-null TS cells, which demonstrates the presence of AIF-mediated cell death.
Title: Activation of cell death mediated by apoptosis-inducing factor due to the absence of poly(ADP-ribose) glycohydrolase.
AMID is not required for normal development and p53-mediated tumor suppression.
Title: The p53-inducible apoptotic protein AMID is not required for normal development and tumor suppression.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127435 (e-PCR)
- UniSTS:210745

AV301832 (e-PCR)
- UniSTS:208535

AI597034 (e-PCR)
- UniSTS:208536

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables electron-transferring-flavoprotein dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables electron-transferring-flavoprotein dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic mitochondrial changes	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within apoptotic mitochondrial changes	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ferroptosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone metabolic process	ISO Inferred from Sequence Orthology more info
involved_in vitamin K metabolic process	ISO Inferred from Sequence Orthology 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 cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ferroptosis suppressor protein 1

Names: apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death; apoptosis-inducing factor 2; apoptosis-inducing factor homologous mitochondrion-associated inducer of death; apoptosis-inducing factor-like mitchondrion-associated inducer of death; apoptosis-inducing factor-like mitochondrion-associated inducer of death; p53-responsive gene 3 protein

NP_001034283.1

EC 1.6.5.-

NP_001271229.1

EC 1.6.5.-

NP_722474.2

EC 1.6.5.-

NP_835159.1

EC 1.6.5.-

XP_006514184.1

EC 1.6.5.-

XP_006514185.1

EC 1.6.5.-

XP_006514187.1

EC 1.6.5.-

XP_006514188.1

EC 1.6.5.-

XP_006514189.1

EC 1.6.5.-

XP_006514190.1

EC 1.6.5.-

XP_011241874.1

EC 1.6.5.-

XP_011241875.1

EC 1.6.5.-

XP_036011907.1

EC 1.6.5.-

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_001039194.3 → NP_001034283.1 ferroptosis suppressor protein 1 isoform 2

See identical proteins and their annotated locations for NP_001034283.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an additional segment in the 3' UTR region, compared to variant 4. Variants 2, 3 and 4 encode the same isoform 2.

Source sequence(s)

AC153136, AK147741, BB847470

Consensus CDS

CCDS23884.1

UniProtKB/Swiss-Prot

Q8BUE4, Q8CHZ2

Related

ENSMUSP00000097297.3, ENSMUST00000099706.9

Conserved Domains (1) summary

cl39093
Location:39 → 356

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
NM_001284300.1 → NP_001271229.1 ferroptosis suppressor protein 1 isoform 2

See identical proteins and their annotated locations for NP_001271229.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) encodes the shorter isoform (2). Variants 2, 3 and 4 encode the same isoform (2).

Source sequence(s)

AK017403, BB847470, BC038129

Consensus CDS

CCDS23884.1

UniProtKB/Swiss-Prot

Q8BUE4, Q8CHZ2

Related

ENSMUSP00000101095.3, ENSMUST00000105455.9

Conserved Domains (1) summary

cl39093
Location:39 → 356

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
NM_153779.2 → NP_722474.2 ferroptosis suppressor protein 1 isoform 1

See identical proteins and their annotated locations for NP_722474.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) has an alternate 5' UTR exon and lacks the penultimate exon, resulting in a downstream stop codon, compared to variant 4. The resulting isoform (1) is longer and has a distinct C-terminus, compared to isoform 2.

Source sequence(s)

AK017403, BC038129

Consensus CDS

CCDS48576.1

UniProtKB/Swiss-Prot

Q8BUE4

Related

ENSMUSP00000078998.6, ENSMUST00000080099.6

Conserved Domains (2) summary

pfam07992
Location:20 → 302

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

cl21457
Location:268 → 364

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
NM_178058.4 → NP_835159.1 ferroptosis suppressor protein 1 isoform 2

See identical proteins and their annotated locations for NP_835159.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 3' UTR exon, compared to variant 4. Variants 2, 3 and 4 encode the same isoform (2).

Source sequence(s)

AC153136, AK085656, BB847470

Consensus CDS

CCDS23884.1

UniProtKB/Swiss-Prot

Q8BUE4, Q8CHZ2

Related

ENSMUSP00000070054.5, ENSMUST00000067857.11

Conserved Domains (1) summary

cl39093
Location:39 → 356

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

61551042..61575474

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156014.1 → XP_036011907.1 ferroptosis suppressor protein 1 isoform X1

Conserved Domains (1) summary

cl39093
Location:39 → 357

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_011243572.2 → XP_011241874.1 ferroptosis suppressor protein 1 isoform X1

See identical proteins and their annotated locations for XP_011241874.1

Conserved Domains (1) summary

cl39093
Location:39 → 357

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514121.4 → XP_006514184.1 ferroptosis suppressor protein 1 isoform X1

See identical proteins and their annotated locations for XP_006514184.1

Conserved Domains (1) summary

cl39093
Location:39 → 357

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514122.5 → XP_006514185.1 ferroptosis suppressor protein 1 isoform X1

See identical proteins and their annotated locations for XP_006514185.1

Conserved Domains (1) summary

cl39093
Location:39 → 357

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514124.5 → XP_006514187.1 ferroptosis suppressor protein 1 isoform X2

See identical proteins and their annotated locations for XP_006514187.1

UniProtKB/Swiss-Prot

Q8BUE4, Q8CHZ2

Conserved Domains (1) summary

cl39093
Location:39 → 356

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514125.2 → XP_006514188.1 ferroptosis suppressor protein 1 isoform X3

See identical proteins and their annotated locations for XP_006514188.1

Conserved Domains (1) summary

cl39093
Location:2 → 267

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514126.4 → XP_006514189.1 ferroptosis suppressor protein 1 isoform X3

See identical proteins and their annotated locations for XP_006514189.1

Conserved Domains (1) summary

cl39093
Location:2 → 267

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_006514127.5 → XP_006514190.1 ferroptosis suppressor protein 1 isoform X3

See identical proteins and their annotated locations for XP_006514190.1

Conserved Domains (1) summary

cl39093
Location:2 → 267

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
XM_011243573.3 → XP_011241875.1 ferroptosis suppressor protein 1 isoform X4

Conserved Domains (1) summary

cl39093
Location:26 → 178

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase