Aifm1 apoptosis inducing factor, mitochondria associated 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Aifm1provided by RGD
Full Name: apoptosis inducing factor, mitochondria associated 1provided by RGD
Primary source: RGD:620817
See related: EnsemblRapid:ENSRNOG00000006067 AllianceGenome:RGD:620817
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Aif; Pdcd8
Summary: Predicted to enable 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 cellular response to aldosterone; cellular response to estradiol stimulus; and cellular response to nitric oxide. Predicted to be located in cytosol and mitochondrial intermembrane space. Predicted to be active in mitochondrion and nucleus. Biomarker of middle cerebral artery infarction; retinal detachment; retinitis pigmentosa; and transient cerebral ischemia. 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: Biased expression in Kidney (RPKM 413.4), Adrenal (RPKM 397.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq36

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (132528107..132567237, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (127650223..127689356, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (135304063..135343062, complement)

Chromosome X - NC_086039.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Synaptic vesicle protein 2A mitigates parthanatos via apoptosis-inducing factor in a rat model of pharmacoresistant epilepsy.
Title: Synaptic vesicle protein 2A mitigates parthanatos via apoptosis-inducing factor in a rat model of pharmacoresistant epilepsy.
Apoptosis-inducing factor plays a role in the pathogenesis of hepatic and renal injury during cholestasis.
Title: Apoptosis-inducing factor plays a role in the pathogenesis of hepatic and renal injury during cholestasis.
Expression pattern of apoptosis-inducing factor in the kidneys of streptozotocin-induced diabetic rats.
Title: Expression pattern of apoptosis-inducing factor in the kidneys of streptozotocin-induced diabetic rats.
CaMK II -induced Drp1 phosphorylation contributes to blue light-induced AIF-mediated necroptosis in retinal R28 cells.
Title: CaMK II -induced Drp1 phosphorylation contributes to blue light-induced AIF-mediated necroptosis in retinal R28 cells.
Baicalein attenuates caspase-independent cells death via inhibiting PARP-1 activation and AIF nuclear translocation in cerebral ischemia/reperfusion rats.
Title: Baicalein attenuates caspase-independent cells death via inhibiting PARP-1 activation and AIF nuclear translocation in cerebral ischemia/reperfusion rats.
AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in vitro.
Title: AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in vitro.
Involvement of the biogenic active amine agmatine in mitochondrial membrane permeabilization and release of pro-apoptotic factors.
Title: Involvement of the biogenic active amine agmatine in mitochondrial membrane permeabilization and release of pro-apoptotic factors.
Study provides evidence that RIP3 combined with AIF and translocated into the nucleus after cerebral ischemia/reperfusion (I/R) injury inducing ischemic neuronal DNA degradation and programmed necrosis.
Title: RIP3 induces ischemic neuronal DNA degradation and programmed necrosis in rat via AIF.
Results suggest that apoptosis-inducing factor nuclear translocation and neuronal cell death are associated with Iduna loss after severe hypoxic-ischemic in the immature brain.
Title: Downregulation of Iduna is associated with AIF nuclear translocation in neonatal brain after hypoxia-ischemia.
investigated the mechanobiological roles of caspase-9 and Apoptosis Inducing Factor (AIF), two important components in mitochondrial pathway, in stretch-induced apoptosis of myoblasts
Title: Apoptosis Inducing Factor Is Involved in Stretch-Induced Apoptosis of Myoblast via a Caspase-9 Independent Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH133831 (e-PCR)
- UniSTS:217114

AA901280 (e-PCR)
- UniSTS:249154

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables FAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables FAD binding	ISO Inferred from Sequence Orthology more info
enables FAD binding	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
enables NAD(P)H oxidase H2O2-forming activity	ISS Inferred from Sequence or Structural Similarity more info
enables NADH dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on NAD(P)H	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity, acting on NAD(P)H	ISS Inferred from Sequence or Structural Similarity more info
enables poly-ADP-D-ribose binding	ISO Inferred from Sequence Orthology more info
enables poly-ADP-D-ribose binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in cellular response to aldosterone	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to estradiol stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hydrogen peroxide	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to nitric oxide	IEP Inferred from Expression Pattern more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of necroptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
involved_in protein import into mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of apoptotic DNA fragmentation	ISO Inferred from Sequence Orthology more info
involved_in response to L-glutamate	IEP Inferred from Expression Pattern more info	PubMed
NOT involved_in response to ischemia	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to ischemia	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to toxic substance	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
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: apoptosis-inducing factor 1, mitochondrial-like; apoptosis-inducing factor, mitochondrion-associated 1; programmed cell death 8 (apoptosis-inducing factor); programmed cell death protein 8

NP_112646.1

EC 1.1.1.-

XP_038956025.1

EC 1.1.1.-

XP_038956026.1

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_031356.2 → NP_112646.1 apoptosis-inducing factor 1, mitochondrial precursor

See identical proteins and their annotated locations for NP_112646.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

UniProtKB/Swiss-Prot

Q548E3, Q9JM53

UniProtKB/TrEMBL

A6JMQ6, Q924M6

Related

ENSRNOP00000008503.3, ENSRNOT00000008503.7

Conserved Domains (3) summary

pfam14962
Location:51 → 124

AIF-MLS; Mitochondria localization Sequence

pfam07992
Location:149 → 461

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14721
Location:464 → 592

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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

132528107..132567237 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039100097.2 → XP_038956025.1 apoptosis-inducing factor 1, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A0G2K7K2, A6JMQ5, Q924M6

Related

ENSRNOP00000074241.1, ENSRNOT00000084848.3

Conserved Domains (3) summary

pfam14962
Location:46 → 120

AIF-MLS; Mitochondria localization Sequence

pfam07992
Location:145 → 457

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14721
Location:460 → 588

AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
XM_039100098.2 → XP_038956026.1 apoptosis-inducing factor 1, mitochondrial isoform X2

UniProtKB/TrEMBL

Q924M6

Conserved Domains (2) summary

pfam07992
Location:51 → 363

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

pfam14721
Location:366 → 494

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