MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
1.6.99.-	Oxidoreductases; Acting on NADH or NADPH; With unknown physiological acceptors;

Structure

PDB	Resolution (Å)	PDB name
1M6I	1.8	Crystal Structure of Apoptosis Inducing Factor (AIF)
4BUR	2.88	Crystal structure of the reduced human Apoptosis inducing factor complexed with NAD
4BV6	1.8	Refined crystal structure of the human Apoptosis inducing factor
4FDC	2.4	Crystal structure of the E493V mutant of human apoptosis inducing factor (AIF)
4LII	1.88	Crystal structure of an apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1) from Homo sapiens at 1.88 A resolution
5FMH	1.8	Crystal structure of the E405K mutant of human apoptosis inducing factor
5FS6	1.9	Crystal structure of the V243L mutant of human apoptosis inducing factor
5FS7	1.85	Crystal structure of the G262S mutant of human apoptosis inducing factor
5FS8	1.4	Crystal structure of the G308E mutant of human apoptosis inducing factor
5FS9	1.75	Crystal structure of the G338E mutant of human apoptosis inducing factor
5KVH	2.273	Crystal structure of human apoptosis-inducing factor with W196A mutation
5KVI	1.995	Crystal structure of monomeric human apoptosis-inducing factor with E413A/R422A/R430A mutations

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
Biological Process	GO:0006915	apoptotic process
Biological Process	GO:1904045	cellular response to aldosterone
Biological Process	GO:0071392	cellular response to estradiol stimulus
Biological Process	GO:0070301	cellular response to hydrogen peroxide
Biological Process	GO:0071732	cellular response to nitric oxide
Biological Process	GO:0090650	cellular response to oxygen-glucose deprivation
Biological Process	GO:0030261	chromosome condensation
Biological Process	GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
Biological Process	GO:0032981	mitochondrial respiratory chain complex I assembly
Biological Process	GO:0033108	mitochondrial respiratory chain complex assembly
Biological Process	GO:0051402	neuron apoptotic process
Biological Process	GO:0030182	neuron differentiation
Biological Process	GO:0043065	positive regulation of apoptotic process
Biological Process	GO:0060545	positive regulation of necroptotic process
Biological Process	GO:0043525	positive regulation of neuron apoptotic process
Biological Process	GO:0045041	protein import into mitochondrial intermembrane space
Biological Process	GO:1902510	regulation of apoptotic DNA fragmentation
Biological Process	GO:1902065	response to L-glutamate
Biological Process	GO:0002931	response to ischemia
Biological Process	GO:0009636	response to toxic substance
Molecular Function	GO:0003677	DNA binding
Molecular Function	GO:0071949	FAD binding
Molecular Function	GO:0016174	NAD(P)H oxidase H2O2-forming activity
Molecular Function	GO:0003954	NADH dehydrogenase activity
Molecular Function	GO:0016651	oxidoreductase activity, acting on NAD(P)H
Molecular Function	GO:0072572	poly-ADP-D-ribose binding
Molecular Function	GO:0046983	protein dimerization activity
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005743	mitochondrial inner membrane
Cellular Component	GO:0005758	mitochondrial intermembrane space
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0048471	perinuclear region of cytoplasm

InterPro / Pfam

InterPro	InterPro name
IPR016156	FAD/NAD-linked reductase, dimerisation domain superfamily
IPR023753	FAD/NAD(P)-binding domain
IPR029324	Mitochondrial apoptosis-inducing factor, C-terminal domain
IPR036188	FAD/NAD(P)-binding domain superfamily

Pfam	Pfam name
PF07992	Pyridine nucleotide-disulphide oxidoreductase
PF14721	Apoptosis-inducing factor, mitochondrion-associated, C-term

Reactome

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:15775970
Cytoplasm	ECO:0000269	PubMed:16365034
Cytoplasm	ECO:0000269	PubMed:33168626
Cytoplasm, cytosol	ECO:0000269	PubMed:16644725
Cytoplasm, perinuclear region	ECO:0000269	PubMed:17094969
Mitochondrion	ECO:0000269	PubMed:16644725
Mitochondrion inner membrane		PubMed:20111043
Mitochondrion intermembrane space	ECO:0000269	PubMed:15775970
Mitochondrion intermembrane space	ECO:0000269	PubMed:20111043
Mitochondrion intermembrane space	ECO:0000269	PubMed:24914854
Mitochondrion intermembrane space	ECO:0000269	PubMed:26004228
Nucleus	ECO:0000269	PubMed:15775970
Nucleus	ECO:0000269	PubMed:17094969
Nucleus	ECO:0000269	PubMed:33168626

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000218	High palate
HP:0000272	Malar flattening
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000360	Tinnitus
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000505	Visual impairment
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000574	Thick eyebrow
HP:0000587	Abnormal optic nerve morphology
HP:0000639	Nystagmus
HP:0000666	Horizontal nystagmus
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0000762	Decreased nerve conduction velocity
HP:0000763	Sensory neuropathy
HP:0000883	Thin ribs
HP:0000884	Prominent sternum
HP:0000907	Anterior rib cupping
HP:0000926	Platyspondyly
HP:0001156	Brachydactyly
HP:0001169	Broad palm
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001258	Spastic paraplegia
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001271	Polyneuropathy
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001308	Tongue fasciculations
HP:0001324	Muscle weakness
HP:0001337	Tremor
HP:0001347	Hyperreflexia
HP:0001371	Flexion contracture
HP:0001419	X-linked recessive inheritance
HP:0001761	Pes cavus
HP:0001769	Broad foot
HP:0001963	Abnormal speech discrimination
HP:0002059	Cerebral atrophy
HP:0002062	Morphological abnormality of the pyramidal tract
HP:0002079	Hypoplasia of the corpus callosum
HP:0002093	Respiratory insufficiency
HP:0002098	Respiratory distress
HP:0002134	Abnormal basal ganglia morphology
HP:0002151	Increased serum lactate
HP:0002188	Delayed CNS myelination
HP:0002197	Generalized-onset seizure
HP:0002273	Tetraparesis
HP:0002317	Unsteady gait
HP:0002321	Vertigo
HP:0002352	Leukoencephalopathy
HP:0002360	Sleep disturbance
HP:0002375	Hypokinesia
HP:0002376	Developmental regression
HP:0002445	Tetraplegia
HP:0002460	Distal muscle weakness
HP:0002490	Increased CSF lactate
HP:0002645	Wormian bones
HP:0002650	Scoliosis
HP:0002651	Spondyloepimetaphyseal dysplasia
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002750	Delayed skeletal maturation
HP:0002751	Kyphoscoliosis
HP:0002808	Kyphosis
HP:0002812	Coxa vara
HP:0002869	Flared iliac wing
HP:0002910	Elevated hepatic transaminase
HP:0002936	Distal sensory impairment
HP:0002942	Thoracic kyphosis
HP:0003016	Metaphyseal widening
HP:0003020	Enlargement of the wrists
HP:0003071	Flattened epiphysis
HP:0003200	Ragged-red muscle fibers
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003311	Hypoplasia of the odontoid process
HP:0003324	Generalized muscle weakness
HP:0003390	Sensory axonal neuropathy
HP:0003487	Babinski sign
HP:0003542	Increased serum pyruvate
HP:0003557	Increased variability in muscle fiber diameter
HP:0003593	Infantile onset
HP:0003676	Progressive
HP:0003677	Slowly progressive
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0004349	Reduced bone mineral density
HP:0004454	Abnormal middle ear reflexes
HP:0005280	Depressed nasal bridge
HP:0005871	Metaphyseal chondrodysplasia
HP:0006028	Metaphyseal cupping of metacarpals
HP:0006423	Peg-like central prominence of distal tibial metaphyses
HP:0006829	Severe muscular hypotonia
HP:0006887	Intellectual disability, progressive
HP:0007002	Motor axonal neuropathy
HP:0007141	Sensorimotor neuropathy
HP:0007178	Motor polyneuropathy
HP:0007328	Impaired pain sensation
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0008789	Cone-shaped capital femoral epiphysis
HP:0008872	Feeding difficulties in infancy
HP:0008944	Distal lower limb amyotrophy
HP:0009025	Increased connective tissue
HP:0009053	Distal lower limb muscle weakness
HP:0009381	Short finger
HP:0009830	Peripheral neuropathy
HP:0010585	Small epiphyses
HP:0010994	Abnormal corpus striatum morphology
HP:0011343	Moderate global developmental delay
HP:0011463	Childhood onset
HP:0011800	Midface retrusion
HP:0012704	Widened subarachnoid space
HP:0012747	Abnormal brainstem MRI signal intensity
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0030051	Tip-toe gait
HP:0030866	Large knee
HP:0034585	Cochlear nerve hypoplasia
HP:0100543	Cognitive impairment
HP:0100707	Abnormal astrocyte morphology
HP:0100864	Short femoral neck

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	High	Enhanced
appendix	glandular cells	Medium	Enhanced
appendix	lymphoid tissue	Low	Enhanced
breast	glandular cells	Medium	Enhanced
breast	myoepithelial cells	Medium	Enhanced
bronchus	respiratory epithelial cells	Medium	Enhanced
cerebellum	cells in granular layer	Low	Enhanced
cervix	glandular cells	Medium	Enhanced
colon	glandular cells	Low	Enhanced
duodenum	glandular cells	Medium	Enhanced
endometrium 1	glandular cells	High	Enhanced
endometrium 2	glandular cells	High	Enhanced
epididymis	glandular cells	High	Enhanced
esophagus	squamous epithelial cells	Low	Enhanced
fallopian tube	glandular cells	High	Enhanced
gallbladder	glandular cells	Medium	Enhanced
heart muscle	cardiomyocytes	Medium	Enhanced
kidney	bowman's capsule	High	Enhanced
kidney	collecting ducts	Medium	Enhanced
kidney	distal tubules	High	Enhanced
kidney	proximal tubules (cell body)	High	Enhanced
liver	hepatocytes	Medium	Enhanced
lung	macrophages	Medium	Enhanced
lymph node	germinal center cells	Low	Enhanced
lymph node	non-germinal center cells	Low	Enhanced
pancreas	exocrine glandular cells	High	Enhanced
pancreas	pancreatic endocrine cells	Medium	Enhanced
parathyroid gland	glandular cells	High	Enhanced
placenta	decidual cells	Low	Enhanced
placenta	trophoblastic cells	Low	Enhanced
prostate	glandular cells	Medium	Enhanced
rectum	glandular cells	Medium	Enhanced
salivary gland	glandular cells	Medium	Enhanced
seminal vesicle	glandular cells	High	Enhanced
small intestine	glandular cells	Medium	Enhanced
spleen	cells in white pulp	High	Enhanced
stomach 1	glandular cells	High	Enhanced
stomach 2	glandular cells	High	Enhanced
testis	Leydig cells	High	Enhanced
testis	sertoli cells	High	Enhanced
thyroid gland	glandular cells	Low	Enhanced
tonsil	germinal center cells	Medium	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Medium	Enhanced
urinary bladder	urothelial cells	Medium	Enhanced

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
spondyloepimetaphyseal dysplasia, bieganski type	MONDO:0010275	G11	chapter6, Diseases of the nervous system	OMIM:300232	Orphanet:168448
spondyloepimetaphyseal dysplasia, bieganski type	MONDO:0010275	G11	chapter6, Diseases of the nervous system	OMIM:300232	Orphanet:83629
spondyloepimetaphyseal dysplasia, bieganski type	MONDO:0010275	Q77	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:300232	Orphanet:168448
spondyloepimetaphyseal dysplasia, bieganski type	MONDO:0010275	Q77	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:300232	Orphanet:83629
x-linked hereditary sensory and autonomic neuropathy with hearing loss	MONDO:0010378	G60	chapter6, Diseases of the nervous system	OMIM:300614	Orphanet:139583
severe x-linked mitochondrial encephalomyopathy	MONDO:0010437	G31	chapter6, Diseases of the nervous system	OMIM:300816	Orphanet:238329
charcot-marie-tooth disease x-linked recessive 4	MONDO:0010689	G60	chapter6, Diseases of the nervous system	OMIM:310490	Orphanet:101078
leukodystrophy	MONDO:0019046	E75	chapter4, Endocrine, nutritional and metabolic diseases	OMIMPS:312080	Orphanet:68356
sensorineural hearing loss disorder	MONDO:0020678	H90	chapter8, Diseases of the ear and mastoid process

Summary of O95831

Gene: AIFM1, AIF, PDCD8
Protein: Apoptosis-inducing factor 1, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of O95831

Gene: AIFM1, AIF, PDCD8 Protein: Apoptosis-inducing factor 1, mitochondrial

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: AIFM1, AIF, PDCD8
Protein: Apoptosis-inducing factor 1, mitochondrial