AIFM1 (apoptosis inducing factor mitochondria associated 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9131
Gene name Gene Name - the full gene name approved by the HGNC.
Apoptosis inducing factor mitochondria associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AIFM1
Synonyms (NCBI Gene) Gene synonyms aliases
AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 a
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT020612 hsa-miR-155-5p Proteomics 18668040
MIRT028978 hsa-miR-26b-5p Microarray 19088304
MIRT047896 hsa-miR-30c-5p CLASH 23622248
MIRT042266 hsa-miR-484 CLASH 23622248
MIRT036812 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(56)
GO ID Ontology Definition Evidence Reference
GO:0002931 Process Response to ischemia IEA
GO:0003677 Function DNA binding IDA 27178839
GO:0003677 Function DNA binding IEA
GO:0003954 Function NADH dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 16713569, 17094969, 21364629, 21715506, 22371500, 26004228, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300169 8768 ENSG00000156709
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95831
Protein name Apoptosis-inducing factor 1, mitochondrial (EC 1.6.99.-) (Programmed cell death protein 8)
Protein function Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytoso
PDB 1M6I , 4BUR , 4BV6 , 4FDC , 4LII , 5FMH , 5FS6 , 5FS7 , 5FS8 , 5FS9 , 5KVH , 5KVI , 8D3E , 8D3G , 8D3H , 8D3I , 8D3J , 8D3K , 8D3N , 8D3O , 8VGY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00070 Pyr_redox 302 → 386 Domain
PF14721 AIF_C 465 → 594 Apoptosis-inducing factor, mitochondrion-associated, C-term Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tested tissues (PubMed:16644725). Detected in muscle and skin fibroblasts (at protein level) (PubMed:23217327). Expressed in osteoblasts (at protein level) (PubMed:28842795). {ECO:0000269|PubMed:16644725, ECO:0000269|P
Sequence 
MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGAS
GGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEG
EEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELW
FSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREV
KSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREG
VKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGG
FRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASE
ITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHED
LNEVAKLFNIHED
Sequence length 613
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Apoptosis
Necroptosis 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease, X-Linked Charcot-Marie-Tooth disease X-linked recessive 4 rs1603224817, rs1603227409, rs1057518895 N/A
Deafness Deafness, X-linked 5 rs724160026, rs724160018, rs724160016, rs724160015, rs724160024, rs724160014, rs724160022, rs863225431, rs724160025, rs863225432, rs724160021, rs724160020 N/A
Mitochondrial Encephalomyopathy, X-Linked severe x-linked mitochondrial encephalomyopathy rs1603223152, rs387906500, rs1057516211, rs724160021, rs724160020 N/A
Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia, Bieganski type rs1603225182, rs1202786652, rs377527583 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism Autism N/A N/A ClinVar
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Leukodystrophy leukodystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Mitochondrial Diseases Associate 34336119