AIF1 (allograft inflammatory factor 1) - Rat Genome Database

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Gene: AIF1 (allograft inflammatory factor 1) Homo sapiens
Analyze
Symbol: AIF1
Name: allograft inflammatory factor 1
RGD ID: 735562
HGNC Page HGNC
Description: Exhibits actin filament binding activity. Involved in several processes, including positive regulation of cytokine production; regulation of cell migration; and regulation of smooth muscle cell proliferation. Localizes to cytosol; nucleus; and perinuclear region of cytoplasm. Colocalizes with actin filament and ruffle membrane. Implicated in type 1 diabetes mellitus. Biomarker of Alzheimer's disease and brain infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIF-1; allograft inflammatory factor-1 splice variant Hara-1; IBA1; interferon gamma responsive transcript; ionized calcium-binding adapter molecule 1; IRT-1; IRT1; protein G1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl631,615,217 - 31,617,021 (+)EnsemblGRCh38hg38GRCh38
GRCh38631,615,212 - 31,617,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37631,583,011 - 31,584,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,691,012 - 31,692,777 (+)NCBINCBI36hg18NCBI36
Build 34631,691,767 - 31,692,777NCBI
Celera633,181,222 - 33,183,026 (+)NCBI
Cytogenetic Map6p21.33NCBI
HuRef631,369,335 - 31,370,975 (+)NCBIHuRef
CHM1_1631,585,122 - 31,586,938 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-colchicine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,5-hexanedione  (ISO)
2-nitrofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3'-diindolylmethane  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
8-OH-DPAT  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allyl isothiocyanate  (ISO)
alpha-D-galactose  (ISO)
amentoflavone  (ISO)
aminoguanidine  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
arsenous acid  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyprodinil  (EXP,ISO)
dabigatran  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diisopropyl fluorophosphate  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethylmalonic acid  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
galactose  (ISO)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glyburide  (ISO)
hexachlorobenzene  (ISO)
Ibudilast  (ISO)
isoprenaline  (ISO)
kainic acid  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
Magnolol  (ISO)
maneb  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
mepanipyrim  (EXP,ISO)
methamphetamine  (ISO)
methylmalonic acid  (ISO)
methylmercury chloride  (ISO)
minocycline  (ISO)
morphine  (ISO)
mycophenolic acid  (ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-butylbenzenesulfonamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
Nonylphenol  (ISO)
Norbinaltorphimine  (ISO)
oxaliplatin  (ISO)
oxybenzone  (ISO)
p-menthan-3-ol  (EXP)
paraquat  (ISO)
permethrin  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
Pyridostigmine bromide  (ISO)
pyrimethanil  (EXP,ISO)
quercetin  (ISO)
quinoline  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
SCH 23390  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sulpiride  (ISO)
tacrolimus hydrate  (ISO)
tadalafil  (ISO)
tamibarotene  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trimethyltin  (ISO)
valproic acid  (ISO)
vincaleukoblastine  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin crosslink formation  (ISS)
actin filament bundle assembly  (IBA,IDA,ISO)
actin filament polymerization  (IDA)
cellular response to extracellular stimulus  (IEA,ISO)
cellular response to hormone stimulus  (IEA,ISO)
cellular response to hydroperoxide  (IEA,ISO)
cellular response to interferon-gamma  (IEP,ISS)
cellular response to morphine  (IEA,ISO)
cellular response to oxidative stress  (IDA)
cerebellum development  (IEA,ISO)
inflammatory response  (ISS,NAS)
microglial cell activation  (NAS)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of gene expression  (IEA,ISO)
negative regulation of smooth muscle cell chemotaxis  (IDA)
negative regulation of smooth muscle cell proliferation  (IDA)
parallel actin filament bundle assembly  (ISS)
phagocytosis, engulfment  (ISS)
positive regulation of cell migration  (IDA,ISO)
positive regulation of cell population proliferation  (IDA)
positive regulation of chemokine production  (IDA)
positive regulation of chemotaxis  (IDA)
positive regulation of fibroblast growth factor production  (IDA)
positive regulation of G1/S transition of mitotic cell cycle  (IDA)
positive regulation of interleukin-6 production  (IDA)
positive regulation of monocyte chemotaxis  (IDA)
positive regulation of mononuclear cell migration  (IDA)
positive regulation of muscle hyperplasia  (IEA,ISO)
positive regulation of nitric oxide biosynthetic process  (IEA,ISO)
positive regulation of protein phosphorylation  (IEA,ISO)
positive regulation of smooth muscle cell chemotaxis  (IDA)
positive regulation of smooth muscle cell proliferation  (IDA,ISO)
positive regulation of T cell migration  (IDA)
positive regulation of T cell proliferation  (IDA)
Rac protein signal transduction  (ISS)
regulation of gene expression  (HDA)
response to axon injury  (IEA,ISO)
response to cytokine  (ISO)
response to electrical stimulus  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
ruffle assembly  (IBA,ISS,NAS)

Cellular Component
actin filament  (IBA,IDA,ISO,ISS)
cell projection  (ISO)
cytoplasm  (IDA,ISS)
cytosol  (IDA,ISO)
lamellipodium  (ISO,ISS)
nucleus  (IDA,ISS)
perikaryon  (IEA,ISO)
perinuclear region of cytoplasm  (IDA)
phagocytic cup  (ISS)
ruffle  (ISO,ISS)
ruffle membrane  (IBA,IDA,IEA)

Molecular Function

References

References - curated
1. Almolda B, etal., J Neuroimmunol. 2009 Apr 30;209(1-2):65-80. Epub 2009 Feb 26.
2. Beiter T, etal., J Neuroimmunol. 2005 Mar;160(1-2):25-31. Epub 2004 Dec 15.
3. Chen ZW, etal., Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13879-84.
4. Eike MC, etal., Genes Immun. 2009 Mar;10(2):141-50. Epub 2008 Nov 6.
5. Girard S, etal., Neuroscience. 2009 Jan 23;158(2):673-82. Epub 2008 Oct 30.
6. GOA_HUMAN data from the GO Consortium
7. Herden C, etal., Neuropathol Appl Neurobiol. 2005 Oct;31(5):512-21.
8. Hirsch J, etal., Mol Cell Proteomics. 2006 Jun;5(6):979-86. Epub 2006 Feb 24.
9. Jakubs K, etal., J Neurosci. 2008 Nov 19;28(47):12477-88.
10. Jakubs K, etal., Neuron. 2006 Dec 21;52(6):1047-59.
11. Kalm M, etal., J Neuroimmunol. 2009 Jan 3;206(1-2):70-5. Epub 2008 Dec 13.
12. Lee JK, etal., Neurosci Lett. 2009 Jan 30;450(2):136-41. Epub 2008 Dec 6.
13. Lepore AC, etal., Nat Neurosci. 2008 Nov;11(11):1294-301. Epub 2008 Oct 19.
14. Mishima T, etal., Int J Mol Med. 2008 Feb;21(2):181-7.
15. Nakano T, etal., Neurosci Lett. 2009 Sep 18;461(2):110-5. Epub 2009 Jun 9.
16. Narita M, etal., Neurosci Lett. 2007 Feb 27;414(1):21-5. Epub 2006 Dec 15.
17. Nixon K, etal., Neurobiol Dis. 2008 Aug;31(2):218-29. Epub 2008 May 3.
18. Postler E, etal., J Neuroimmunol. 2000 Apr 3;104(1):85-91.
19. Rappold PM, etal., Brain Res. 2006 May 17;1089(1):171-8. Epub 2006 Apr 25.
20. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. RGD automated import pipeline for gene-chemical interactions
22. Rivera EJ, etal., J Alzheimers Dis. 2005 Dec;8(3):247-68.
23. Sakuma M, etal., J Neural Transm. 2008;115(3):413-22. Epub 2008 Feb 26.
24. Tanaka S, etal., J Neurosci 1998 Aug 15;18(16):6358-69.
25. Thored P, etal., Glia. 2009 Jun;57(8):835-49.
26. Tsubata Y, etal., Kidney Int. 2006 Dec;70(11):1948-54. Epub 2006 Oct 11.
27. Tsuda M, etal., Glia. 2008 Mar;56(4):378-86.
28. Vega-Avelaira D, etal., Brain Behav Immun. 2007 Jul;21(5):617-23. Epub 2006 Dec 8.
29. Wixey JA, etal., J Neuroimmunol. 2009 Jul 25;212(1-2):35-43. Epub 2009 May 17.
Additional References at PubMed
PMID:7590964   PMID:7769138   PMID:8081366   PMID:8499947   PMID:8629302   PMID:8912632   PMID:9367684   PMID:9480751   PMID:9614071   PMID:10202016   PMID:11500035   PMID:11557666  
PMID:11943136   PMID:12477932   PMID:12559634   PMID:12714565   PMID:12887599   PMID:14574404   PMID:14656967   PMID:14756805   PMID:15117732   PMID:15489334   PMID:15523649   PMID:15784173  
PMID:15922740   PMID:16049345   PMID:16291819   PMID:16868985   PMID:17010532   PMID:17011575   PMID:17073733   PMID:17498268   PMID:17522098   PMID:17533487   PMID:17907195   PMID:18341653  
PMID:18699778   PMID:18721278   PMID:18787073   PMID:18816612   PMID:18835879   PMID:19079260   PMID:19204726   PMID:19745784   PMID:19851445   PMID:20237496   PMID:20587610   PMID:20662065  
PMID:20850992   PMID:20855536   PMID:21040744   PMID:21168672   PMID:21509525   PMID:21720444   PMID:21873635   PMID:22106834   PMID:22116621   PMID:22225958   PMID:22560794   PMID:22936669  
PMID:23221708   PMID:23547889   PMID:23563607   PMID:23777936   PMID:23867161   PMID:24018427   PMID:24337893   PMID:24742347   PMID:24796669   PMID:25026748   PMID:25036637   PMID:25194280  
PMID:25998745   PMID:26324213   PMID:26585362   PMID:27442380   PMID:28398520   PMID:28601280   PMID:30021884   PMID:30136808   PMID:30188879   PMID:30252881   PMID:30615888   PMID:30682074  
PMID:32708725   PMID:32814053  


Genomics

Comparative Map Data
AIF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl631,615,217 - 31,617,021 (+)EnsemblGRCh38hg38GRCh38
GRCh38631,615,212 - 31,617,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37631,583,011 - 31,584,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,691,012 - 31,692,777 (+)NCBINCBI36hg18NCBI36
Build 34631,691,767 - 31,692,777NCBI
Celera633,181,222 - 33,183,026 (+)NCBI
Cytogenetic Map6p21.33NCBI
HuRef631,369,335 - 31,370,975 (+)NCBIHuRef
CHM1_1631,585,122 - 31,586,938 (+)NCBICHM1_1
Aif1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,389,962 - 35,395,050 (-)NCBIGRCm39mm39
GRCm39 Ensembl1735,389,967 - 35,395,044 (-)Ensembl
GRCm381735,170,986 - 35,176,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,170,991 - 35,176,068 (-)EnsemblGRCm38mm10GRCm38
MGSCv371735,307,937 - 35,312,946 (-)NCBIGRCm37mm9NCBIm37
MGSCv361734,779,048 - 34,784,057 (-)NCBImm8
Celera1738,267,928 - 38,272,936 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.59NCBI
Aif1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2203,646,784 - 3,652,670 (+)NCBI
Rnor_6.0 Ensembl205,161,333 - 5,166,448 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0205,161,350 - 5,167,176 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0207,234,609 - 7,240,454 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,714,428 - 3,716,327 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1203,714,654 - 3,716,552NCBI
Celera204,373,127 - 4,375,026 (-)NCBICelera
Cytogenetic Map20p12NCBI
Aif1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955437157,509 - 158,919 (+)NCBIChiLan1.0ChiLan1.0
AIF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1632,166,301 - 32,168,125 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl632,166,301 - 32,168,125 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0631,276,215 - 31,278,051 (+)NCBIMhudiblu_PPA_v0panPan3
AIF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,104,350 - 1,106,179 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl121,104,394 - 1,106,177 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,240,799 - 1,242,629 (+)NCBI
ROS_Cfam_1.0121,249,600 - 1,251,430 (+)NCBI
UMICH_Zoey_3.1121,108,905 - 1,110,735 (+)NCBI
UNSW_CanFamBas_1.0121,176,225 - 1,178,056 (+)NCBI
UU_Cfam_GSD_1.0121,243,086 - 1,244,917 (+)NCBI
Aif1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,651,964 - 35,653,851 (+)NCBI
SpeTri2.0NW_0049367271,907,493 - 1,909,350 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,711,722 - 23,731,671 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,711,752 - 23,731,191 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,520,797 - 27,540,237 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AIF1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Aif1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475424,590,071 - 24,591,913 (-)NCBI

Position Markers
SHGC-132025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,584,596 - 31,584,795UniSTSGRCh37
Build 36631,692,575 - 31,692,774RGDNCBI36
Celera633,182,824 - 33,183,023RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,370,773 - 31,370,972UniSTS
TNG Radiation Hybrid Map616930.0UniSTS
AIF1_696.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,584,166 - 31,584,824UniSTSGRCh37
Build 36631,692,145 - 31,692,803RGDNCBI36
Celera633,182,394 - 33,183,052RGD
HuRef631,370,343 - 31,371,001UniSTS
D6S1864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,584,625 - 31,584,720UniSTSGRCh37
Build 36631,692,604 - 31,692,699RGDNCBI36
Celera633,182,853 - 33,182,948RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,370,802 - 31,370,897UniSTS
GeneMap99-G3 RH Map61712.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:790
Count of miRNA genes:389
Interacting mature miRNAs:431
Transcripts:ENST00000337917, ENST00000376049, ENST00000376059, ENST00000466820, ENST00000497362
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8 10 3
Medium 1863 2264 1256 392 1729 279 2658 784 2240 329 755 1195 116 1 1183 1569 4 2
Low 463 714 449 221 143 171 1609 1362 1416 47 598 198 50 21 1209
Below cutoff 21 5 10 6 42 7 25 27 18 8 26 51 4 10 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF088038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF129756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF299327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF299329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL805934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV716806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV735626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BA000025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB215777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD249922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD521003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB502939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF070981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF070982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF070983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ782414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ782415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337917   ⟹   ENSP00000338776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,615,227 - 31,617,021 (+)Ensembl
RefSeq Acc Id: ENST00000376049   ⟹   ENSP00000365217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,615,991 - 31,617,021 (+)Ensembl
RefSeq Acc Id: ENST00000376059   ⟹   ENSP00000365227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,615,234 - 31,617,015 (+)Ensembl
RefSeq Acc Id: ENST00000466820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,615,280 - 31,617,021 (+)Ensembl
RefSeq Acc Id: ENST00000497362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,615,217 - 31,616,340 (+)Ensembl
RefSeq Acc Id: NM_001318970   ⟹   NP_001305899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,234 - 31,617,015 (+)NCBI
CHM1_1631,585,122 - 31,586,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001623   ⟹   NP_001614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,234 - 31,617,015 (+)NCBI
GRCh37631,582,969 - 31,584,798 (+)NCBI
Build 36631,691,012 - 31,692,777 (+)NCBI Archive
HuRef631,369,335 - 31,370,975 (+)ENTREZGENE
CHM1_1631,585,122 - 31,586,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032955   ⟹   NP_116573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,991 - 31,617,015 (+)NCBI
GRCh37631,582,969 - 31,584,798 (+)NCBI
Build 36631,691,768 - 31,692,777 (+)NCBI Archive
HuRef631,369,335 - 31,370,975 (+)ENTREZGENE
CHM1_1631,585,913 - 31,586,938 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248870   ⟹   XP_005248927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,217 - 31,616,510 (+)NCBI
GRCh37631,582,969 - 31,584,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010332   ⟹   XP_016865821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,212 - 31,616,510 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001305899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001614 (Get FASTA)   NCBI Sequence Viewer  
  NP_116573 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248927 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865821 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA92457 (Get FASTA)   NCBI Sequence Viewer  
  AAB05003 (Get FASTA)   NCBI Sequence Viewer  
  AAC24422 (Get FASTA)   NCBI Sequence Viewer  
  AAD18087 (Get FASTA)   NCBI Sequence Viewer  
  AAG39110 (Get FASTA)   NCBI Sequence Viewer  
  AAG39112 (Get FASTA)   NCBI Sequence Viewer  
  AAH09474 (Get FASTA)   NCBI Sequence Viewer  
  ABK35646 (Get FASTA)   NCBI Sequence Viewer  
  ABK35647 (Get FASTA)   NCBI Sequence Viewer  
  AFL46387 (Get FASTA)   NCBI Sequence Viewer  
  AFL46388 (Get FASTA)   NCBI Sequence Viewer  
  AQY76655 (Get FASTA)   NCBI Sequence Viewer  
  AQY76656 (Get FASTA)   NCBI Sequence Viewer  
  BAA13088 (Get FASTA)   NCBI Sequence Viewer  
  BAB63392 (Get FASTA)   NCBI Sequence Viewer  
  BAF83460 (Get FASTA)   NCBI Sequence Viewer  
  CAA75060 (Get FASTA)   NCBI Sequence Viewer  
  CAA75061 (Get FASTA)   NCBI Sequence Viewer  
  CAA75062 (Get FASTA)   NCBI Sequence Viewer  
  CAG46950 (Get FASTA)   NCBI Sequence Viewer  
  EAX03442 (Get FASTA)   NCBI Sequence Viewer  
  EAX03443 (Get FASTA)   NCBI Sequence Viewer  
  EAX03444 (Get FASTA)   NCBI Sequence Viewer  
  EAX03445 (Get FASTA)   NCBI Sequence Viewer  
  EAX03446 (Get FASTA)   NCBI Sequence Viewer  
  EAX03447 (Get FASTA)   NCBI Sequence Viewer  
  P55008 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001614   ⟸   NM_001623
- Peptide Label: isoform 3
- UniProtKB: P55008 (UniProtKB/Swiss-Prot),   Q4V347 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116573   ⟸   NM_032955
- Peptide Label: isoform 1
- UniProtKB: P55008 (UniProtKB/Swiss-Prot),   I3WTX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248927   ⟸   XM_005248870
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305899   ⟸   NM_001318970
- Peptide Label: isoform 1
- UniProtKB: P55008 (UniProtKB/Swiss-Prot),   I3WTX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865821   ⟸   XM_017010332
- Peptide Label: isoform X2
- UniProtKB: P55008 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000365217   ⟸   ENST00000376049
RefSeq Acc Id: ENSP00000365227   ⟸   ENST00000376059
RefSeq Acc Id: ENSP00000338776   ⟸   ENST00000337917
Protein Domains
EF-hand

Promoters
RGD ID:6872542
Promoter ID:EPDNEW_H9436
Type:initiation region
Name:AIF1_3
Description:allograft inflammatory factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9437  EPDNEW_H9438  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,152 - 31,615,212EPDNEW
RGD ID:6872544
Promoter ID:EPDNEW_H9437
Type:initiation region
Name:AIF1_1
Description:allograft inflammatory factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9436  EPDNEW_H9438  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,265 - 31,615,325EPDNEW
RGD ID:6872546
Promoter ID:EPDNEW_H9438
Type:initiation region
Name:AIF1_2
Description:allograft inflammatory factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9436  EPDNEW_H9437  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,616,043 - 31,616,103EPDNEW
RGD ID:6804157
Promoter ID:HG_KWN:52942
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337917,   ENST00000376049,   NM_004847,   OTTHUMT00000076512,   OTTHUMT00000076517,   OTTHUMT00000076518,   OTTHUMT00000259316,   UC010JSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36631,690,186 - 31,691,877 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004847.3(AIF1):c.155G>A (p.Arg52Lys) single nucleotide variant Malignant melanoma [RCV000067285] Chr6:31616266 [GRCh38]
Chr6:31584043 [GRCh37]
Chr6:31692022 [NCBI36]
Chr6:6p21.33
not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 copy number gain See cases [RCV000448679] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:352 AgrOrtholog
COSMIC AIF1 COSMIC
Ensembl Genes ENSG00000204472 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000206428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000234836 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000235588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000235985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000237727 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338776 UniProtKB/TrEMBL
  ENSP00000365217 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365227 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372965 UniProtKB/Swiss-Prot
  ENSP00000372966 UniProtKB/Swiss-Prot
  ENSP00000391720 UniProtKB/Swiss-Prot
  ENSP00000393114 UniProtKB/TrEMBL
  ENSP00000393996 UniProtKB/TrEMBL
  ENSP00000394278 UniProtKB/TrEMBL
  ENSP00000397842 UniProtKB/Swiss-Prot
  ENSP00000398013 UniProtKB/Swiss-Prot
  ENSP00000399621 UniProtKB/Swiss-Prot
  ENSP00000399901 UniProtKB/Swiss-Prot
  ENSP00000400538 UniProtKB/TrEMBL
  ENSP00000401433 UniProtKB/Swiss-Prot
  ENSP00000413709 UniProtKB/Swiss-Prot
  ENSP00000415805 UniProtKB/TrEMBL
  ENSP00000416061 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337917 UniProtKB/TrEMBL
  ENST00000376049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376059 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000383473 UniProtKB/Swiss-Prot
  ENST00000383474 UniProtKB/Swiss-Prot
  ENST00000412407 UniProtKB/TrEMBL
  ENST00000413349 UniProtKB/Swiss-Prot
  ENST00000414149 UniProtKB/Swiss-Prot
  ENST00000415830 UniProtKB/Swiss-Prot
  ENST00000416422 UniProtKB/Swiss-Prot
  ENST00000417200 UniProtKB/TrEMBL
  ENST00000419376 UniProtKB/Swiss-Prot
  ENST00000424944 UniProtKB/Swiss-Prot
  ENST00000425748 UniProtKB/Swiss-Prot
  ENST00000437985 UniProtKB/TrEMBL
  ENST00000440907 UniProtKB/Swiss-Prot
  ENST00000454372 UniProtKB/TrEMBL
  ENST00000454573 UniProtKB/TrEMBL
GTEx ENSG00000204472 GTEx
  ENSG00000206428 GTEx
  ENSG00000234836 GTEx
  ENSG00000235588 GTEx
  ENSG00000235985 GTEx
  ENSG00000237727 GTEx
HGNC ID HGNC:352 ENTREZGENE
Human Proteome Map AIF1 Human Proteome Map
InterPro AIF1/AIF1L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 199 ENTREZGENE
OMIM 601833 OMIM
PANTHER PTHR10356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24646 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AIF1_HUMAN UniProtKB/Swiss-Prot
  I3WTX1 ENTREZGENE, UniProtKB/TrEMBL
  P55008 ENTREZGENE
  Q4V347 ENTREZGENE, UniProtKB/TrEMBL
  Q5STX8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K406 UniProtKB/Swiss-Prot
  O43904 UniProtKB/Swiss-Prot
  Q9UIV4 UniProtKB/Swiss-Prot
  Q9UKS9 UniProtKB/Swiss-Prot