AIFM1 - apoptosis inducing factor mitochondria associated 1 Gene

Also Known as AIF; AUNX1; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6; SEMDHL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9131

About AIFM1

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:130,129,362-130,165,841 (from NCBI)

This gene has 31 transcripts (splice variants), 204 orthologues, 7 paralogues and is associated with 9 phenotypes. Broad expression in kidney (RPKM 48.3), heart (RPKM 22.2) and 24 other tissues.

Summary

This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of Apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined Oxidative Phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

AIFM1 Products (4)

mRNA	Protein	Name
NM_001130846.4	NP_001124318.2	apoptosis-inducing factor 1, mitochondrial isoform AIFsh
NM_001130847.4	NP_001124319.1	apoptosis-inducing factor 1, mitochondrial isoform AIFsh2 precursor
NM_004208.4	NP_004199.1	apoptosis-inducing factor 1, mitochondrial isoform AIF precursor
NM_145812.3	NP_665811.1	apoptosis-inducing factor 1, mitochondrial isoform AIF-exB 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	27178839	GOA
enables FAD binding	IDA IDA: Inferred from direct assay	27178839	GOA
enables NAD(P)H oxidase H2O2-forming activity	IDA IDA: Inferred from direct assay	27178839	GOA
enables oxidoreductase activity, acting on NAD(P)H	IDA IDA: Inferred from direct assay	23217327	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	17094969	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	23217327	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	20111043	GOA
involved in mitochondrial respiratory chain complex assembly	IMP IMP: Inferred from mutant phenotype	26004228	GOA
involved in neuron differentiation	IDA IDA: Inferred from direct assay	20111043	GOA
involved in protein import into mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	26004228	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	15775970	GOA
located in mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	20111043	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23217327	GOA

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

AIFM1 Protein Structure

AIF-MLS

Pyr_redox_2

Pyr_redox

AIF_C

0
100
200
300
400
500
613 a.a.

Protein Preferred Names	Protein Names
apoptosis-inducing factor 1, mitochondrial	apoptosis-inducing factor, mitochondrion-associated, 1

AIFM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AIFM1	O95831	KANK2	Homo sapiens	Q63ZY3	Anti Bait CoIP	22371500
Intra	AIFM1	O95831	KANK2	Homo sapiens	Q63ZY3	Anti Tag CoIP	33961781
Intra	AIFM1	O95831	EIF3G	Homo sapiens	O75821	Anti Bait CoIP	17094969
Intra	AIFM1	O95831	EIF3G	Homo sapiens	O75821	Pull Down	17094969
Intra	AIFM1	O95831	EIF3G	Homo sapiens	O75821	Imaging	17094969
Intra	AIFM1	O95831	TSC22D4	Homo sapiens	Q9Y3Q8	Pull Down	16713569
Cross	AIFM1	O95831	PA	Influenza A virus	Q5EP34	Anti Tag CoIP	21715506

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AIFM1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7856	PDCD8/AIFM1 Protein, Human (His)	O95831 (E121-D613)	≥ 95%, as determined by reducing SDS-PAGE.

AIFM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80534	AIF Antibody (YA835)	WB, ICC/IF	Human
HY-P80534A	AIF Antibody (YA835)(PBS only)	WB, ICC/IF	Human
HY-P86230	AIF Antibody (YA5922)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 6	Severe X-Linked Mitochondrial Encephalomyopathy COXPD6 Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6 Mitochondrial Encephalomyopathy Due To Coxpd6 Encephalomyopathy, Mitochondrial, X-Linked Encephalomyopathy Mitochondrial X-Linked Oxidative Phosphorylation Deficiency, Combined, Type 6
Deafness, X-Linked 5, With Peripheral Neuropathy	Deafness, X-Linked 5 DFNX5 Aunx1 Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy X-Linked Deafness 5 X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1 X-Linked Hsan With Deafness X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness X-Linked Hsan With Hearing Loss X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss Deafness, X-Linked, 5, With Peripheral Neuropathy Deafness, X-Linked, Type 5
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	SEMDHL Leukoencephalopathy With Metaphyseal Chondrodysplasia H-Smd Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome Lkmcd Semd, X-Linked, With Mental Deterioration Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome Hypomyelination-Spondylometaphyseal Dysplasia Syndrome X-Linked Spondyloepimetaphyseal Dysplasia With Hypomyelinating Leukodystrophy Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome Hypomyelination-Spondyloepimetaphyseal Dysplasia Syndrome Leukoencephalopathy-Semd Syndrome Semd X-Linked With Mental Deterioration
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Cowchock Syndrome CMTX4 Cowck Neuropathy, Axonal Motor-Sensory, With Deafness And Mental Retardation Namsd Nadmr Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Charcot-Marie-Tooth Disease Deafness Mental Retardation Charcot-Marie-Tooth Disease X-Linked Recessive 4
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Combined Oxidative Phosphorylation Deficiency
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Leukodystrophy	Leukodystrophies
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Ear Malformation	Cup Ear
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Spondyloepimetaphyseal Dysplasia, X-Linked	X-Linked Spondyloepimetaphyseal Dysplasia SEMDX Semd, X-Linked Semd X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondylo-Epimetaphyseal Dysplasia
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Charcot-Marie-Tooth Disease Type X
Deafness, X-Linked 4	DFNX4 Dfn6 Deafness, Nonsyndromic Sensorineural Progressive 6 X-Linked Deafness 4 Deafness, X-Linked 6, Progressive Nonsyndromic Sensorineural Progressive Deafness 6 X-Linked Progressive Deafness 6 Deafness, X-Linked, 4 Deafness Nonsyndromic Sensorineural Progressive 6 Deafness X-Linked 6 Progressive Deafness, X-Linked, Type 4
Axonal Neuropathy
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Deafness, X-Linked 7	X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome DFNX7 X-Linked Deafness 7 Deafness, X-Linked, 7
Brown-Vialetto-Van Laere Syndrome
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Auditory Neuropathy, Autosomal Dominant 1	Autosomal Dominant Auditory Neuropathy 1 AUNA1 Nsdan Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy, Nonsyndromic Dominant Nonsyndromic Dominant Auditory Neuropathy Nonsyndromic Auditory Neuropathy Autosomal Dominant
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Retinal Degeneration	Degeneration Of Retina
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

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
Felis catus	AIFM1	VGNC	VGNC:68747
Canis familiaris	AIFM1	VGNC	VGNC:37737
Rattus norvegicus	AIFM1	RGD	RGD:620817
Macaca mulatta	AIFM1	VGNC	VGNC:69820
Bos taurus	AIFM1	VGNC	VGNC:25761
Mus musculus	AIFM1	MGD	MGI:1349419
Others	AIFM1	NCBI