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:352
Description: Enables 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. Located in several cellular components, including actin filament; perinuclear region of cytoplasm; and ruffle membrane. Implicated in type 1 diabetes mellitus. Biomarker of Alzheimer's disease and brain infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,615,234 - 31,617,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,615,217 - 31,617,021 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,583,011 - 31,584,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,691,012 - 31,692,777 (+)NCBINCBI36Build 36hg18NCBI36
Build 34631,691,767 - 31,692,777NCBI
Celera633,181,222 - 33,183,026 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,369,335 - 31,370,975 (+)NCBIHuRef
CHM1_1631,585,130 - 31,586,934 (+)NCBICHM1_1
T2T-CHM13v2.0631,468,284 - 31,470,065 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(1->4)-beta-D-glucan  (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)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-nitrofluorene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3'-diindolylmethane  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
6-Methoxyflavone  (ISO)
6-propyl-2-thiouracil  (ISO)
8-OH-DPAT  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
agomelatine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
allyl isothiocyanate  (ISO)
alpha-D-galactose  (ISO)
alpha-Zearalanol  (ISO)
amentoflavone  (ISO)
aminoguanidine  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azithromycin  (ISO)
baicalin  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP,ISO)
corilagin  (ISO)
Cuprizon  (ISO)
cyhalothrin  (ISO)
cyprodinil  (EXP,ISO)
D-glucose  (ISO)
dabigatran  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diisopropyl fluorophosphate  (ISO)
diuron  (EXP,ISO)
doxorubicin  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethylmalonic acid  (ISO)
ethylparaben  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
galactose  (ISO)
gentamycin  (ISO)
ginkgolide B  (ISO)
ginsenoside Re  (ISO)
glucose  (ISO)
glyburide  (ISO)
glyphosate  (ISO)
hexachlorobenzene  (ISO)
Ibudilast  (ISO)
imidacloprid  (ISO)
isoprenaline  (ISO)
Jujuboside A  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
L-gamma-glutamyl-L-cysteine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
Magnolol  (ISO)
maneb  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (ISO)
mepanipyrim  (EXP,ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methylmalonic acid  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
midazolam  (ISO)
minocycline  (ISO)
morphine  (ISO)
Muraglitazar  (ISO)
mycophenolic acid  (ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-butylbenzenesulfonamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
Nonylphenol  (ISO)
Norbinaltorphimine  (ISO)
oxaliplatin  (ISO)
oxybenzone  (ISO)
p-menthan-3-ol  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
Pyridostigmine bromide  (ISO)
pyrimethanil  (EXP,ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
quinoline  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
SCH 23390  (ISO)
senecionine  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Sophoricoside  (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)
trichloroethene  (ISO)
trimethyltin  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (ISO)
valproic acid  (ISO)
vincaleukoblastine  (ISO)
vincamine  (ISO)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin crosslink formation  (IEA,ISS)
actin filament bundle assembly  (IBA,IDA,IEA)
actin filament polymerization  (IDA)
cellular response to hormone stimulus  (ISO)
cellular response to hydroperoxide  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to morphine  (ISO)
cellular response to oxidative stress  (IDA)
cellular response to type II interferon  (IEP,ISS)
cerebellum development  (ISO)
inflammatory response  (ISS,NAS)
microglial cell activation  (NAS)
negative regulation of apoptotic process  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of smooth muscle cell chemotaxis  (IDA)
negative regulation of smooth muscle cell proliferation  (IDA)
parallel actin filament bundle assembly  (IEA,ISS)
phagocytosis, engulfment  (IEA,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  (ISO)
positive regulation of nitric oxide biosynthetic process  (ISO)
positive regulation of protein phosphorylation  (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  (IEA,ISS)
regulation of gene expression  (HDA)
response to axon injury  (ISO)
response to cytokine  (ISO)
response to electrical stimulus  (ISO)
response to glucocorticoid  (ISO)
ruffle assembly  (IBA,IEA,ISS,NAS)

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Megacolon  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. CD4 microglial expression correlates with spontaneous clinical improvement in the acute Lewis rat EAE model. Almolda B, etal., J Neuroimmunol. 2009 Apr 30;209(1-2):65-80. Epub 2009 Feb 26.
2. Experimental autoimmune neuritis induces differential microglia activation in the rat spinal cord. Beiter T, etal., J Neuroimmunol. 2005 Mar;160(1-2):25-31. Epub 2004 Dec 15.
3. Neuregulin-1-ErbB signaling promotes microglia activation contributing to mechanical allodynia of cyclophosphamide-induced cystitis. Chen JL, etal., Neurourol Urodyn. 2019 Jun;38(5):1250-1260. doi: 10.1002/nau.24005. Epub 2019 Apr 15.
4. Identification, isolation, and characterization of daintain (allograft inflammatory factor 1), a macrophage polypeptide with effects on insulin secretion and abundantly present in the pancreas of prediabetic BB rats. Chen ZW, etal., Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13879-84.
5. Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families. Eike MC, etal., Genes Immun. 2009 Mar;10(2):141-50. Epub 2008 Nov 6.
6. Developmental motor deficits induced by combined fetal exposure to lipopolysaccharide and early neonatal hypoxia/ischemia: a novel animal model for cerebral palsy in very premature infants. Girard S, etal., Neuroscience. 2009 Jan 23;158(2):673-82. Epub 2008 Oct 30.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Expression of allograft inflammatory factor-1 and haeme oxygenase-1 in brains of rats infected with the neurotropic Borna disease virus. Herden C, etal., Neuropathol Appl Neurobiol. 2005 Oct;31(5):512-21.
9. Warm ischemia-induced alterations in oxidative and inflammatory proteins in hepatic Kupffer cells in rats. Hirsch J, etal., Mol Cell Proteomics. 2006 Jun;5(6):979-86. Epub 2006 Feb 24.
10. Inflammation regulates functional integration of neurons born in adult brain. Jakubs K, etal., J Neurosci. 2008 Nov 19;28(47):12477-88.
11. Environment matters: synaptic properties of neurons born in the epileptic adult brain develop to reduce excitability. Jakubs K, etal., Neuron. 2006 Dec 21;52(6):1047-59.
12. Irradiation-induced loss of microglia in the young brain. Kalm M, etal., J Neuroimmunol. 2009 Jan 3;206(1-2):70-5. Epub 2008 Dec 13.
13. Bone marrow-derived mesenchymal stem cells reduce brain amyloid-beta deposition and accelerate the activation of microglia in an acutely induced Alzheimer's disease mouse model. Lee JK, etal., Neurosci Lett. 2009 Jan 30;450(2):136-41. Epub 2008 Dec 6.
14. Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease. Lepore AC, etal., Nat Neurosci. 2008 Nov;11(11):1294-301. Epub 2008 Oct 19.
15. Allograft inflammatory factor-1 augments macrophage phagocytotic activity and accelerates the progression of atherosclerosis in ApoE-/- mice. Mishima T, etal., Int J Mol Med. 2008 Feb;21(2):181-7.
16. Brain trauma induces expression of diacylglycerol kinase zeta in microglia. Nakano T, etal., Neurosci Lett. 2009 Sep 18;461(2):110-5. Epub 2009 Jun 9.
17. Involvement of microglia in the ethanol-induced neuropathic pain-like state in the rat. Narita M, etal., Neurosci Lett. 2007 Feb 27;414(1):21-5. Epub 2006 Dec 15.
18. Distinct cell proliferation events during abstinence after alcohol dependence: microglia proliferation precedes neurogenesis. Nixon K, etal., Neurobiol Dis. 2008 Aug;31(2):218-29. Epub 2008 May 3.
19. Allograft-inflammatory-factor-1 is upregulated in microglial cells in human cerebral infarctions. Postler E, etal., J Neuroimmunol. 2000 Apr 3;104(1):85-91.
20. P2X7 receptor immunoreactive profile confined to resting and activated microglia in the epileptic brain. Rappold PM, etal., Brain Res. 2006 May 17;1089(1):171-8. Epub 2006 Apr 25.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Insulin and insulin-like growth factor expression and function deteriorate with progression of Alzheimer's disease: link to brain reductions in acetylcholine. Rivera EJ, etal., J Alzheimers Dis. 2005 Dec;8(3):247-68.
24. Time dependent changes of striatal interneurons after focal cerebral ischemia in rats. Sakuma M, etal., J Neural Transm. 2008;115(3):413-22. Epub 2008 Feb 26.
25. Upregulation of a new microglial gene, mrf-1, in response to programmed neuronal cell death and degeneration. Tanaka S, etal., J Neurosci 1998 Aug 15;18(16):6358-69.
26. Long-term accumulation of microglia with proneurogenic phenotype concomitant with persistent neurogenesis in adult subventricular zone after stroke. Thored P, etal., Glia. 2009 Jun;57(8):835-49.
27. Expression of allograft inflammatory factor-1 in kidneys: A novel molecular component of podocyte. Tsubata Y, etal., Kidney Int. 2006 Dec;70(11):1948-54. Epub 2006 Oct 11.
28. Activation of dorsal horn microglia contributes to diabetes-induced tactile allodynia via extracellular signal-regulated protein kinase signaling. Tsuda M, etal., Glia. 2008 Mar;56(4):378-86.
29. Age-related changes in the spinal cord microglial and astrocytic response profile to nerve injury. Vega-Avelaira D, etal., Brain Behav Immun. 2007 Jul;21(5):617-23. Epub 2006 Dec 8.
30. Delayed P2X4R expression after hypoxia-ischemia is associated with microglia in the immature rat brain. 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:31332168   PMID:32708725   PMID:32814053   PMID:33343805   PMID:33924468   PMID:33961781   PMID:34751872   PMID:35285861   PMID:35696571   PMID:36345369   PMID:36520870   PMID:36596796  
PMID:37014322   PMID:37950809   PMID:38521928  


Genomics

Comparative Map Data
AIF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,615,234 - 31,617,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl631,615,217 - 31,617,021 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,583,011 - 31,584,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36631,691,012 - 31,692,777 (+)NCBINCBI36Build 36hg18NCBI36
Build 34631,691,767 - 31,692,777NCBI
Celera633,181,222 - 33,183,026 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,369,335 - 31,370,975 (+)NCBIHuRef
CHM1_1631,585,130 - 31,586,934 (+)NCBICHM1_1
T2T-CHM13v2.0631,468,284 - 31,470,065 (+)NCBIT2T-CHM13v2.0
Aif1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,389,967 - 35,394,977 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,389,967 - 35,395,044 (-)EnsemblGRCm39 Ensembl
GRCm381735,170,986 - 35,176,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,170,991 - 35,176,068 (-)EnsemblGRCm38mm10GRCm38
MGSCv371735,307,937 - 35,312,946 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,779,048 - 34,784,057 (-)NCBIMGSCv36mm8
Celera1738,267,928 - 38,272,936 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.59NCBI
Aif1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8203,651,435 - 3,657,341 (+)NCBIGRCr8
mRatBN7.2203,646,784 - 3,652,670 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,646,777 - 3,652,668 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,350,088 - 4,351,997 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0203,712,144 - 3,714,054 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0204,249,928 - 4,251,828 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0205,161,350 - 5,167,176 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl205,161,333 - 5,166,448 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0207,234,609 - 7,240,454 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,714,428 - 3,716,327 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
ChiLan1.0 EnsemblNW_004955437157,509 - 158,919 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955437157,509 - 158,919 (+)NCBIChiLan1.0ChiLan1.0
AIF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2546,092,079 - 46,093,913 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1642,053,651 - 42,055,477 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0631,276,215 - 31,278,051 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1632,166,301 - 32,168,125 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl632,166,301 - 32,168,125 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,249,600 - 1,251,430 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,249,645 - 1,251,403 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,108,905 - 1,110,735 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,176,225 - 1,178,056 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,243,086 - 1,244,917 (+)NCBIUU_Cfam_GSD_1.0
Aif1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,651,964 - 35,653,851 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367271,907,505 - 1,909,338 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367271,907,493 - 1,909,350 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,728,726 - 23,731,675 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366604431,525,412 - 31,527,245 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aif1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475424,590,071 - 24,591,904 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475424,590,071 - 24,591,913 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AIF1
22 total Variants

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
NC_000006.11:g.(?_30695893)_(31937492_?)dup duplication not provided [RCV003107453] Chr6:30695893..31937492 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33
likely pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308) copy number gain not specified [RCV002053564] Chr6:31384577..31902308 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2
uncertain significance
NM_001623.5(AIF1):c.310C>G (p.Pro104Ala) single nucleotide variant not specified [RCV004133166] Chr6:31616457 [GRCh38]
Chr6:31584234 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.197-42G>C single nucleotide variant not specified [RCV004098727] Chr6:31616302 [GRCh38]
Chr6:31584079 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.215G>A (p.Arg72Gln) single nucleotide variant not specified [RCV004239754] Chr6:31616362 [GRCh38]
Chr6:31584139 [GRCh37]
Chr6:6p21.33
likely benign
NM_001623.5(AIF1):c.197-64C>T single nucleotide variant not specified [RCV004095201] Chr6:31616280 [GRCh38]
Chr6:31584057 [GRCh37]
Chr6:6p21.33
likely benign
NM_001623.5(AIF1):c.196+21G>C single nucleotide variant not specified [RCV004122822] Chr6:31616166 [GRCh38]
Chr6:31583943 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.197-34C>T single nucleotide variant not specified [RCV004285092] Chr6:31616310 [GRCh38]
Chr6:31584087 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.200T>C (p.Ile67Thr) single nucleotide variant not specified [RCV004251148] Chr6:31616347 [GRCh38]
Chr6:31584124 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.197-45A>G single nucleotide variant not specified [RCV004249007] Chr6:31616299 [GRCh38]
Chr6:31584076 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.256C>A (p.Leu86Ile) single nucleotide variant not specified [RCV004338834] Chr6:31616403 [GRCh38]
Chr6:31584180 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.197-36C>T single nucleotide variant not specified [RCV004345591] Chr6:31616308 [GRCh38]
Chr6:31584085 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.169T>C (p.Phe57Leu) single nucleotide variant not specified [RCV004395901] Chr6:31616118 [GRCh38]
Chr6:31583895 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.269T>C (p.Ile90Thr) single nucleotide variant not specified [RCV004623540] Chr6:31616416 [GRCh38]
Chr6:31584193 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.260A>G (p.Lys87Arg) single nucleotide variant not specified [RCV004923564] Chr6:31616407 [GRCh38]
Chr6:31584184 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.197-75G>A single nucleotide variant not specified [RCV004923545] Chr6:31616269 [GRCh38]
Chr6:31584046 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001623.5(AIF1):c.196+57G>A single nucleotide variant not specified [RCV004923553] Chr6:31616202 [GRCh38]
Chr6:31583979 [GRCh37]
Chr6:6p21.33
likely benign
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597105718GWAS1201792_Hcancer QTL GWAS1201792 (human)1e-09cancer63161606431616065Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
597447129GWAS1543203_Hclostridium difficile infection QTL GWAS1543203 (human)0.000005clostridium difficile infection63161538931615390Human
597447130GWAS1543204_Hclostridium difficile infection QTL GWAS1543204 (human)0.000007clostridium difficile infection63161615431616155Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
597220239GWAS1316313_HBMI-adjusted waist-hip ratio QTL GWAS1316313 (human)2e-08body size trait (VT:0100005)63161537831615379Human
597431211GWAS1527285_HStevens-Johnson syndrome, toxic epidermal necrolysis, response to methazolamide QTL GWAS1527285 (human)0.0000003Stevens-Johnson syndrome, toxic epidermal necrolysis, response to methazolamide63161620831616209Human
597270533GWAS1366607_HBMI-adjusted hip circumference QTL GWAS1366607 (human)5e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)63161537831615379Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
597110601GWAS1206675_Hplatelet count QTL GWAS1206675 (human)6e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)63161553531615536Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2347 2788 2249 4859 1715 2170 6 619 1924 457 2205 7168 6434 31 3674 1 812 1666 1448 170 1

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
  XM_054329747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354428 (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
  CP068272 (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

Ensembl Acc Id: ENST00000337917   ⟹   ENSP00000338776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,615,227 - 31,617,021 (+)Ensembl
Ensembl Acc Id: ENST00000376049   ⟹   ENSP00000365217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,615,991 - 31,617,021 (+)Ensembl
Ensembl Acc Id: ENST00000376059   ⟹   ENSP00000365227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,615,234 - 31,617,015 (+)Ensembl
Ensembl Acc Id: ENST00000466820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl631,615,280 - 31,617,021 (+)Ensembl
Ensembl Acc Id: ENST00000497362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0631,468,284 - 31,470,065 (+)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
T2T-CHM13v2.0631,468,284 - 31,470,065 (+)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
T2T-CHM13v2.0631,469,041 - 31,470,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248870   ⟹   XP_005248927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,615,234 - 31,616,510 (+)NCBI
GRCh37631,582,969 - 31,584,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054354428   ⟹   XP_054210403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0631,468,284 - 31,469,560 (+)NCBI
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_054185722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187259 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210403 (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  
Ensembl Protein ENSP00000338776.7
  ENSP00000365217
  ENSP00000365217.4
  ENSP00000365227
  ENSP00000365227.3
  ENSP00000372965.4
  ENSP00000372966.4
  ENSP00000391720.2
  ENSP00000393114.2
  ENSP00000393996.2
  ENSP00000394278.2
  ENSP00000397842.2
  ENSP00000398013.2
  ENSP00000399621.2
  ENSP00000399901.2
  ENSP00000400538.2
  ENSP00000401433.2
  ENSP00000413709.2
  ENSP00000415805.2
  ENSP00000416061.2
GenBank Protein P55008 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001614   ⟸   NM_001623
- Peptide Label: isoform 3
- UniProtKB: Q9UIV4 (UniProtKB/Swiss-Prot),   O43904 (UniProtKB/Swiss-Prot),   A8K406 (UniProtKB/Swiss-Prot),   Q9UKS9 (UniProtKB/Swiss-Prot),   P55008 (UniProtKB/Swiss-Prot),   Q4V347 (UniProtKB/TrEMBL),   Q5STX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116573   ⟸   NM_032955
- Peptide Label: isoform 1
- UniProtKB: 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: I3WTX1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000365217   ⟸   ENST00000376049
Ensembl Acc Id: ENSP00000365227   ⟸   ENST00000376059
Ensembl Acc Id: ENSP00000338776   ⟸   ENST00000337917
RefSeq Acc Id: XP_054210403   ⟸   XM_054354428
- Peptide Label: isoform X1
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55008-F1-model_v2 AlphaFold P55008 1-147 view protein structure

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

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 Transcript ENST00000337917.11 UniProtKB/TrEMBL
  ENST00000376049 ENTREZGENE
  ENST00000376049.4 UniProtKB/Swiss-Prot
  ENST00000376059 ENTREZGENE
  ENST00000376059.8 UniProtKB/Swiss-Prot
  ENST00000383473.4 UniProtKB/Swiss-Prot
  ENST00000383474.8 UniProtKB/Swiss-Prot
  ENST00000412407.6 UniProtKB/TrEMBL
  ENST00000413349.6 UniProtKB/Swiss-Prot
  ENST00000414149.6 UniProtKB/Swiss-Prot
  ENST00000415830.2 UniProtKB/Swiss-Prot
  ENST00000416422.2 UniProtKB/Swiss-Prot
  ENST00000417200.6 UniProtKB/TrEMBL
  ENST00000419376.2 UniProtKB/Swiss-Prot
  ENST00000424944.2 UniProtKB/Swiss-Prot
  ENST00000425748.6 UniProtKB/Swiss-Prot
  ENST00000437985.6 UniProtKB/TrEMBL
  ENST00000440907.6 UniProtKB/Swiss-Prot
  ENST00000454372.6 UniProtKB/TrEMBL
  ENST00000454573.6 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, 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 AIF-1_EF_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 ALLOGRAFT INFLAMMATORY FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AIF-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24646 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS0000E9F0FD RNACentral
  URS0002617F72 RNACentral
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K406 ENTREZGENE
  AIF1_HUMAN UniProtKB/Swiss-Prot
  I3WTX1 ENTREZGENE, UniProtKB/TrEMBL
  O43904 ENTREZGENE
  P55008 ENTREZGENE
  Q4V347 ENTREZGENE, UniProtKB/TrEMBL
  Q5STX8 ENTREZGENE, UniProtKB/TrEMBL
  Q9UIV4 ENTREZGENE
  Q9UKS9 ENTREZGENE
UniProt Secondary A8K406 UniProtKB/Swiss-Prot
  O43904 UniProtKB/Swiss-Prot
  Q9UIV4 UniProtKB/Swiss-Prot
  Q9UKS9 UniProtKB/Swiss-Prot