AIFM1 - apoptosis inducing factor mitochondria associated 1 Gene

Homo sapiens

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

Gene ID: 9131 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00492	AIFM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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