AIFM1 [The Human Chemical-Genetic Interaction Map Project]

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======= AIFM1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AIFM1
  * **<color #00a2e8>Official Name</color>**: apoptosis inducing factor mitochondria associated 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9131|9131]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95831|O95831]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AIFM1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AIFM1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300169|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Pyr redox 2|
|Pyr redox|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cellular response to aldosterone|
|oxidoreductase activity, acting on NAD(P)H|
|response to aldosterone|
|cellular response to mineralocorticoid stimulus|
|response to oxygen-glucose deprivation|
|cellular response to oxygen-glucose deprivation|
|NAD(P)H oxidase activity|
|cellular response to aldehyde|
|regulation of apoptotic DNA fragmentation|
|response to L-glutamate|
|regulation of DNA catabolic process|
|cellular response to nitric oxide|
|cellular response to reactive nitrogen species|
|response to nitric oxide|
|response to mineralocorticoid|
|FAD binding|
|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress|
|cellular response to estradiol stimulus|
|regulation of execution phase of apoptosis|
|chromosome condensation|
|neuron apoptotic process|
|response to ischemia|
|response to bronchodilator|
|neuron death|
|positive regulation of neuron apoptotic process|
|cellular response to corticosteroid stimulus|
|cellular response to hydrogen peroxide|
|mitochondrial intermembrane space|
|cellular response to alcohol|
|activation of cysteine-type endopeptidase activity involved in apoptotic process|
|cellular response to ketone|
|positive regulation of neuron death|
|response to amino acid|
|cellular response to antibiotic|
|response to hydrogen peroxide|
|cellular response to reactive oxygen species|
|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process|
|response to estradiol|
|intrinsic apoptotic signaling pathway|
|positive regulation of cysteine-type endopeptidase activity|
|protein dimerization activity|
|response to corticosteroid|
|positive regulation of endopeptidase activity|
|DNA packaging|
|cellular response to steroid hormone stimulus|
|positive regulation of peptidase activity|
|response to ketone|
|response to reactive oxygen species|
|cellular response to decreased oxygen levels|
|regulation of neuron apoptotic process|
|cellular response to toxic substance|
|cellular response to oxygen levels|
|regulation of cysteine-type endopeptidase activity involved in apoptotic process|
|response to nutrient|
|cellular response to inorganic substance|
|response to alcohol|
|cellular response to nutrient levels|
|cellular response to oxidative stress|
|regulation of cysteine-type endopeptidase activity|
|response to endoplasmic reticulum stress|
|cellular response to extracellular stimulus|
|apoptotic signaling pathway|
|DNA conformation change|
|response to antibiotic|
|regulation of neuron death|
|response to steroid hormone|
|cellular response to external stimulus|
|response to acid chemical|
|regulation of DNA metabolic process|
|response to decreased oxygen levels|
|positive regulation of proteolysis|
|response to oxygen levels|
|response to oxidative stress|
|mitochondrial inner membrane|
|cellular response to drug|
|regulation of endopeptidase activity|
|regulation of peptidase activity|
|response to nutrient levels|
|response to toxic substance|
|cellular response to lipid|
|response to extracellular stimulus|
|response to inorganic substance|
|cellular response to organic cyclic compound|
|cellular response to hormone stimulus|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|cellular response to nitrogen compound|
|positive regulation of cell death|
|perinuclear region of cytoplasm|
|regulation of proteolysis|
|positive regulation of hydrolase activity|
|regulation of cellular catabolic process|
|response to lipid|
|response to hormone|
|response to organic cyclic compound|
|apoptotic process|
|oxidation-reduction process|
|regulation of catabolic process|
|response to organonitrogen compound|
|response to drug|
|programmed cell death|
|cellular response to oxygen-containing compound|
|chromosome organization|
|response to nitrogen compound|
|cell death|
|response to abiotic stimulus|
|cellular response to endogenous stimulus|
|mitochondrion|
|regulation of hydrolase activity|
|positive regulation of catalytic activity|
|DNA binding|
|response to endogenous stimulus|
|regulation of apoptotic process|
|response to oxygen-containing compound|
|regulation of programmed cell death|
|positive regulation of cellular protein metabolic process|
|regulation of cell death|
|intracellular signal transduction|
|cellular response to stress|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp326|CCT251545 20μM R07 exp326]]|-1.75|
|[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|1.7|
|[[:results:exp85|UM0129480 7μM R02 exp85]]|1.7|
|[[:results:exp470|Chloroquine 32μM R08 exp470]]|1.72|
|[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|1.81|
|[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|1.89|
|[[:results:exp78|Pterostilbene 16μM R02 exp78]]|2.08|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|2.1|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hsd17b10|HSD17B10]]|0.627|
|[[:human genes:s:selrc1|SELRC1]]|0.593|
|[[:human genes:n:ndufaf7|NDUFAF7]]|0.59|
|[[:human genes:m:mrps34|MRPS34]]|0.587|
|[[:human genes:q:qrsl1|QRSL1]]|0.579|
|[[:human genes:m:mrp63|MRP63]]|0.577|
|[[:human genes:s:sco2|SCO2]]|0.572|
|[[:human genes:m:mrps6|MRPS6]]|0.568|
|[[:human genes:m:mrpl53|MRPL53]]|0.565|
|[[:human genes:m:mrps14|MRPS14]]|0.563|
|[[:human genes:m:mrps16|MRPS16]]|0.56|
|[[:human genes:g:gfm1|GFM1]]|0.556|
|[[:human genes:d:dars2|DARS2]]|0.553|
|[[:human genes:c:c12orf65|C12orf65]]|0.549|
|[[:human genes:m:mrps21|MRPS21]]|0.545|
|[[:human genes:d:dap3|DAP3]]|0.542|
|[[:human genes:l:lars2|LARS2]]|0.541|
|[[:human genes:y:yars2|YARS2]]|0.533|
|[[:human genes:t:tars2|TARS2]]|0.532|
|[[:human genes:m:mrps5|MRPS5]]|0.532|
|[[:human genes:m:mrpl21|MRPL21]]|0.529|
|[[:human genes:n:ndufa3|NDUFA3]]|0.529|
|[[:human genes:f:ftsj2|FTSJ2]]|0.523|
|[[:human genes:m:mrps25|MRPS25]]|0.52|
|[[:human genes:m:mrpl45|MRPL45]]|0.52|
|[[:human genes:v:vars2|VARS2]]|0.518|
|[[:human genes:p:pars2|PARS2]]|0.517|
|[[:human genes:e:ears2|EARS2]]|0.516|
|[[:human genes:s:supv3l1|SUPV3L1]]|0.516|
|[[:human genes:n:ndufb11|NDUFB11]]|0.51|
|[[:human genes:m:mars2|MARS2]]|0.508|
|[[:human genes:r:rbfa|RBFA]]|0.507|
|[[:human genes:c:coa3|COA3]]|0.505|
|[[:human genes:w:wbscr16|WBSCR16]]|0.504|
|[[:human genes:r:rnaseh1|RNASEH1]]|0.503|
|[[:human genes:m:mrpl23|MRPL23]]|0.502|
|[[:human genes:n:nars2|NARS2]]|0.502|
|[[:human genes:c:cox16|COX16]]|0.501|
|[[:human genes:m:mrps12|MRPS12]]|0.496|
|[[:human genes:a:aars2|AARS2]]|0.495|
|[[:human genes:m:mrpl47|MRPL47]]|0.487|
|[[:human genes:g:gfm2|GFM2]]|0.486|
|[[:human genes:t:tfb1m|TFB1M]]|0.486|
|[[:human genes:n:ndufa1|NDUFA1]]|0.485|
|[[:human genes:s:sars2|SARS2]]|0.484|
|[[:human genes:m:mrps26|MRPS26]]|0.482|
|[[:human genes:n:ndufaf4|NDUFAF4]]|0.482|
|[[:human genes:c:chchd1|CHCHD1]]|0.482|
|[[:human genes:p:pet117|PET117]]|0.479|
|[[:human genes:r:rpusd3|RPUSD3]]|0.478|
|[[:human genes:n:ndufc2|NDUFC2]]|0.478|
|[[:human genes:p:polg2|POLG2]]|0.477|
|[[:human genes:m:mrpl42|MRPL42]]|0.476|
|[[:human genes:m:mtg2|MTG2]]|0.474|
|[[:human genes:t:tomm20|TOMM20]]|0.473|
|[[:human genes:m:mrpl44|MRPL44]]|0.473|
|[[:human genes:r:rars2|RARS2]]|0.472|
|[[:human genes:g:gtpbp10|GTPBP10]]|0.469|
|[[:human genes:n:ndufb6|NDUFB6]]|0.468|
|[[:human genes:g:gatc|GATC]]|0.466|
|[[:human genes:c:coa6|COA6]]|0.465|
|[[:human genes:m:mrps9|MRPS9]]|0.465|
|[[:human genes:n:ndufb5|NDUFB5]]|0.463|
|[[:human genes:n:ndufs2|NDUFS2]]|0.462|
|[[:human genes:a:atp5sl|ATP5SL]]|0.461|
|[[:human genes:m:mrpl17|MRPL17]]|0.46|
|[[:human genes:r:rtn4ip1|RTN4IP1]]|0.458|
|[[:human genes:r:rpusd4|RPUSD4]]|0.456|
|[[:human genes:c:cox7b|COX7B]]|0.456|
|[[:human genes:c:cox17|COX17]]|0.454|
|[[:human genes:p:ptcd3|PTCD3]]|0.454|
|[[:human genes:f:fars2|FARS2]]|0.452|
|[[:human genes:m:mtrf1l|MTRF1L]]|0.45|
|[[:human genes:m:mrpl20|MRPL20]]|0.449|
|[[:human genes:n:ndufa2|NDUFA2]]|0.448|
|[[:human genes:e:elac2|ELAC2]]|0.447|
|[[:human genes:k:kiaa0391|KIAA0391]]|0.446|
|[[:human genes:m:mrpl22|MRPL22]]|0.444|
|[[:human genes:m:malsu1|MALSU1]]|0.444|
|[[:human genes:m:mrps18a|MRPS18A]]|0.443|
|[[:human genes:h:hars2|HARS2]]|0.442|
|[[:human genes:d:ddx28|DDX28]]|0.442|
|[[:human genes:g:grsf1|GRSF1]]|0.44|
|[[:human genes:f:fastkd5|FASTKD5]]|0.44|
|[[:human genes:a:acad9|ACAD9]]|0.439|
|[[:human genes:m:mrpl3|MRPL3]]|0.438|
|[[:human genes:s:sco1|SCO1]]|0.436|
|[[:human genes:p:pet112|PET112]]|0.435|
|[[:human genes:m:mrps33|MRPS33]]|0.435|
|[[:human genes:m:mrps2|MRPS2]]|0.434|
|[[:human genes:m:mrpl11|MRPL11]]|0.434|
|[[:human genes:f:fastkd2|FASTKD2]]|0.434|
|[[:human genes:n:ndufa11|NDUFA11]]|0.434|
|[[:human genes:s:slc25a26|SLC25A26]]|0.434|
|[[:human genes:c:c10orf2|C10orf2]]|0.434|
|[[:human genes:e:ecsit|ECSIT]]|0.429|
|[[:human genes:c:c17orf89|C17orf89]]|0.429|
|[[:human genes:n:ndufb9|NDUFB9]]|0.428|
|[[:human genes:p:pdss1|PDSS1]]|0.427|
|[[:human genes:m:mrps24|MRPS24]]|0.426|
|[[:human genes:c:coa5|COA5]]|0.426|
|[[:human genes:p:polrmt|POLRMT]]|0.426|
|[[:human genes:m:mettl17|METTL17]]|0.425|
|[[:human genes:t:trub2|TRUB2]]|0.424|
|[[:human genes:u:uqcrc2|UQCRC2]]|0.424|
|[[:human genes:m:mrpl15|MRPL15]]|0.422|
|[[:human genes:m:mrps27|MRPS27]]|0.421|
|[[:human genes:b:bcs1l|BCS1L]]|0.417|
|[[:human genes:r:rnmtl1|RNMTL1]]|0.417|
|[[:human genes:m:mrps22|MRPS22]]|0.416|
|[[:human genes:m:mrpl18|MRPL18]]|0.416|
|[[:human genes:m:mtif2|MTIF2]]|0.416|
|[[:human genes:n:ndufaf3|NDUFAF3]]|0.415|
|[[:human genes:w:wars2|WARS2]]|0.413|
|[[:human genes:m:mrpl36|MRPL36]]|0.412|
|[[:human genes:m:mrpl35|MRPL35]]|0.411|
|[[:human genes:m:mrpl43|MRPL43]]|0.411|
|[[:human genes:a:atp5c1|ATP5C1]]|0.411|
|[[:human genes:m:mrps11|MRPS11]]|0.411|
|[[:human genes:s:ssbp1|SSBP1]]|0.409|
|[[:human genes:c:cars2|CARS2]]|0.409|
|[[:human genes:c:cox15|COX15]]|0.409|
|[[:human genes:m:mrpl4|MRPL4]]|0.408|
|[[:human genes:h:higd2a|HIGD2A]]|0.407|
|[[:human genes:m:mrpl33|MRPL33]]|0.406|
|[[:human genes:t:tufm|TUFM]]|0.405|
|[[:human genes:m:mrpl12|MRPL12]]|0.404|
|[[:human genes:t:timm8b|TIMM8B]]|0.403|
|[[:human genes:n:ndufaf6|NDUFAF6]]|0.403|
|[[:human genes:l:lrpprc|LRPPRC]]|0.403|
|[[:human genes:m:mtpap|MTPAP]]|0.403|
|[[:human genes:n:ndufa6|NDUFA6]]|0.402|
|[[:human genes:p:pnpt1|PNPT1]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 217/683
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|1/1|
|bile duct|10/28|
|blood|5/26|
|bone|9/25|
|breast|6/30|
|central nervous system|16/49|
|cervix|2/4|
|colorectal|5/17|
|esophagus|8/11|
|fibroblast|0/1|
|gastric|3/14|
|kidney|12/18|
|liver|8/19|
|lung|26/72|
|lymphocyte|0/14|
|ovary|5/25|
|pancreas|12/22|
|peripheral nervous system|6/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|3/20|
|soft tissue|2/7|
|thyroid|0/2|
|upper aerodigestive|13/22|
|urinary tract|9/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1732
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.39 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AIFM1 Expression in NALM6 Cells: 6.39'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>