BAK1 (BCL2 antagonist/killer 1) - Rat Genome Database

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Gene: BAK1 (BCL2 antagonist/killer 1) Homo sapiens
Analyze
Symbol: BAK1
Name: BCL2 antagonist/killer 1
RGD ID: 1353034
HGNC Page HGNC:949
Description: Enables porin activity; protein dimerization activity; and transmembrane transporter binding activity. Involved in several processes, including activation of cysteine-type endopeptidase activity; apoptotic signaling pathway; and regulation of apoptotic process. Located in mitochondrion. Part of BAK complex and pore complex. Is active in mitochondrial outer membrane. Implicated in ataxia telangiectasia and cervix carcinoma. Biomarker of Alzheimer's disease; leiomyoma; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apoptosis regulator BAK; BAK; BAK-LIKE; bcl-2 homologous antagonist/killer; bcl-2-like protein 7; BCL2-antagonist/killer 1; bcl2-L-7; BCL2-like 7 protein; BCL2L7; CDN1; MGC117255; MGC3887; pro-apoptotic protein BAK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: BAK1P1   BAK1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38633,572,552 - 33,580,276 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl633,572,547 - 33,580,293 (-)EnsemblGRCh38hg38GRCh38
GRCh37633,540,329 - 33,548,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36633,648,301 - 33,656,048 (-)NCBINCBI36Build 36hg18NCBI36
Build 34633,648,306 - 33,655,959NCBI
Celera635,094,701 - 35,102,448 (-)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef633,281,784 - 33,289,531 (-)NCBIHuRef
CHM1_1633,542,641 - 33,550,388 (-)NCBICHM1_1
T2T-CHM13v2.0633,393,742 - 33,401,466 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-Tetrandrine  (EXP)
(-)-citrinin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-(-)-perillyl alcohol  (EXP)
(S)-amphetamine  (EXP)
(S)-naringenin  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-methoxy-17beta-estradiol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
4-octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
acetochlor  (EXP)
acetylsalicylic acid  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
alantolactone  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antirheumatic drug  (EXP)
arecoline  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP)
auranofin  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (ISO)
beta-D-glucan  (EXP)
betulinic acid  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP,ISO)
Brusatol  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfide  (EXP)
camptothecin  (EXP)
capsaicin  (EXP,ISO)
carbon nanotube  (EXP,ISO)
carvedilol  (ISO)
casticin  (EXP)
cefaloridine  (ISO)
celecoxib  (EXP,ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chrysophanol  (EXP)
cisplatin  (EXP,ISO)
coenzyme Q10  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
cucurbitacin B  (EXP)
curcumin  (EXP,ISO)
cylindrospermopsin  (EXP)
D-glucose  (EXP,ISO)
DDE  (ISO)
deguelin  (EXP)
delphinidin  (EXP)
demethoxycurcumin  (EXP)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
Destruxin B  (EXP)
dexamethasone  (EXP,ISO)
Di-n-octyl phthalate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dieldrin  (ISO)
diepoxybutane  (EXP)
diethyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
Dimethyl phthalate  (ISO)
dioscin  (EXP,ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
disulfiram  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (ISO)
epichlorohydrin  (EXP)
esculetin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP,ISO)
farnesol  (EXP)
farrerol  (EXP)
fisetin  (EXP)
flavonoids  (ISO)
flufenamic acid  (EXP)
flufenoxuron  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
furosemide  (ISO)
gefitinib  (EXP)
genistein  (EXP)
geraniol  (EXP)
glucose  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP,ISO)
hyperforin  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
iohexol  (EXP)
iopamidol  (EXP)
isoflurane  (ISO)
isoprenaline  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
levamisole  (EXP)
LGK974  (EXP)
Licochalcone A  (EXP)
linalool  (EXP)
lithocholic acid  (ISO)
losartan  (ISO)
Luteolin 7-methyl ether  (ISO)
lycopene  (ISO)
Maduramicin  (ISO)
maneb  (EXP,ISO)
mechlorethamine  (EXP)
melatonin  (EXP,ISO)
melittin  (EXP)
melphalan  (EXP)
menadione  (EXP)
methamphetamine  (EXP)
methotrexate  (EXP)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
minocycline  (ISO)
Mitotane  (ISO)
MK-2206  (EXP)
morphine  (EXP)
mycophenolic acid  (EXP)
Myrtucommulone A  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
navitoclax  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
niclosamide  (EXP)
nimesulide  (EXP,ISO)
NORCANTHARIDIN  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (EXP,ISO)
okadaic acid  (EXP)
omacetaxine mepesuccinate  (EXP)
osthole  (EXP)
oxybenzone  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
parathion  (EXP)
parthenolide  (EXP)
PD 0325901  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
perifosine  (EXP)
perillyl alcohol  (EXP)
PF-3758309  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pifithrin-alpha hydrobromide  (ISO)
pinostrobin  (EXP)
platycodin D  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
promethazine  (EXP)
propylparaben  (EXP)
prostaglandin E2  (ISO)
pterostilbene  (EXP)
pyrethrins  (EXP)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
ritonavir  (EXP)
romidepsin  (EXP)
rottlerin  (EXP)
Salinomycin  (EXP)
SB 203580  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
sodium arsenite  (ISO)
sorafenib  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulindac  (EXP)
sulindac sulfide  (ISO)
sulindac sulfone  (ISO)
surfactin  (EXP)
surfactin C  (EXP)
T-2 toxin  (EXP)
taiwanin C  (ISO)
tamibarotene  (EXP)
TEMPO  (ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
Thiotepa  (EXP)
trichostatin A  (EXP,ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
tunicamycin  (EXP)
urethane  (EXP,ISO)
ursolic acid  (EXP)
usnic acid  (EXP)
valproic acid  (ISO)
veliparib  (EXP)
venetoclax  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
xanthohumol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ regeneration  (IEA,ISO)
apoptotic process  (IDA,IEA,NAS)
apoptotic process involved in blood vessel morphogenesis  (IEA,ISO)
apoptotic signaling pathway  (IMP)
B cell apoptotic process  (IEA,ISO)
B cell homeostasis  (IEA,ISO)
B cell negative selection  (IEA,ISO)
blood vessel remodeling  (IEA,ISO)
calcium ion transport into cytosol  (IEA,ISO)
cellular response to mechanical stimulus  (IEP)
cellular response to unfolded protein  (TAS)
cellular response to UV  (IEA,IMP,ISS)
endocrine pancreas development  (IEA,ISO)
endoplasmic reticulum calcium ion homeostasis  (TAS)
epithelial cell proliferation  (IEA,ISO)
establishment of localization in cell  (IEA,ISO)
establishment or maintenance of transmembrane electrochemical gradient  (IDA)
extrinsic apoptotic signaling pathway in absence of ligand  (IBA,IEA,ISO)
fibroblast apoptotic process  (IEA,ISO)
homeostasis of number of cells  (IEA,ISO)
intrinsic apoptotic signaling pathway  (IDA)
intrinsic apoptotic signaling pathway in response to DNA damage  (IBA,IEA,ISO)
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  (IEA,ISO,TAS)
leukocyte homeostasis  (IEA,ISO)
limb morphogenesis  (IEA,ISO)
mitochondrial fusion  (IEA,ISO)
myeloid cell homeostasis  (IEA,ISO)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of endoplasmic reticulum calcium ion concentration  (IEA,ISO)
negative regulation of gene expression  (IEA,ISO)
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  (IDA)
negative regulation of peptidyl-serine phosphorylation  (ISO)
negative regulation of release of cytochrome c from mitochondria  (IDA)
obsolete positive regulation of cysteine-type endopeptidase activity  (ISO)
obsolete response to organic cyclic compound  (IEA)
peptidyl-serine phosphorylation  (ISO)
positive regulation of apoptotic process  (IBA,IEA,IMP,ISO,ISS)
positive regulation of calcium ion transport into cytosol  (IEA,ISO)
positive regulation of IRE1-mediated unfolded protein response  (TAS)
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  (NAS)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of proteolysis  (IDA)
positive regulation of release of cytochrome c from mitochondria  (IEA,ISO,NAS)
post-embryonic camera-type eye morphogenesis  (IEA,ISO)
regulation of apoptotic process  (IEA)
regulation of apoptotic signaling pathway  (IEA)
regulation of cell cycle  (IEA,ISO)
regulation of intracellular signal transduction  (IEA)
regulation of mitochondrial membrane permeability  (IDA)
regulation of mitochondrial membrane potential  (IDA)
release of cytochrome c from mitochondria  (IBA,IDA,IEA,IGI,ISO)
response to ethanol  (IEA,ISO)
response to fungus  (IEA,ISO)
response to gamma radiation  (IEA,ISO)
response to hydrogen peroxide  (IEA,ISO)
response to mycotoxin  (IEA,ISO)
response to UV-C  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
thymocyte apoptotic process  (IEA,ISO)
vagina development  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The Bcl-2 apoptotic switch in cancer development and therapy. Adams JM and Cory S, Oncogene. 2007 Feb 26;26(9):1324-37.
2. Antiapoptotic small interfering RNA as potent adjuvant of DNA vaccination in a mouse mammary tumor model. Dharmapuri S, etal., Hum Gene Ther. 2009 Jun;20(6):589-97.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. Isaian A, etal., J Clin Immunol. 2010 Jan;30(1):132-7. doi: 10.1007/s10875-009-9340-6. Epub 2009 Nov 7.
5. Alteration of proteins regulating apoptosis, Bcl-2, Bcl-x, Bax, Bak, Bad, ICH-1 and CPP32, in Alzheimer's disease. Kitamura Y, etal., Brain Res. 1998 Jan 12;780(2):260-9.
6. Over-expression of PUMA correlates with the apoptosis of spinal cord cells in rat neuropathic intermittent claudication model. Ma B, etal., PLoS One. 2013 May 2;8(5):e56580. doi: 10.1371/journal.pone.0056580. Print 2013.
7. Differential expression of apoptosis-associated genes post-hepatectomy in cirrhotic vs. normal rats. Masson S, etal., Apoptosis. 2000 Apr;5(2):173-9.
8. Right ventricular effects of intracoronary delivery of mesenchymal stem cells (MSC) in an animal model of pressure overload heart failure. Molina EJ, etal., Biomed Pharmacother. 2009 Dec;63(10):767-72. Epub 2008 Sep 25.
9. Expression of bcl-2, bcl-x, bax and bak in renal parenchyma, oncocytomas and renal cell carcinomas. Pammer J, etal., Pathol Res Pract. 1998;194(12):837-45.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. Blocking the mitochondrial apoptotic pathway preserves motor neuron viability and function in a mouse model of amyotrophic lateral sclerosis. Reyes NA, etal., J Clin Invest. 2010 Oct;120(10):3673-9. doi: 10.1172/JCI42986. Epub 2010 Sep 20.
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. p,p'-DDE induces mitochondria-mediated apoptosis of cultured rat Sertoli cells. Song Y, etal., Toxicology. 2008 Nov 20;253(1-3):53-61. Epub 2008 Sep 4.
14. Genetic alterations in the coding region of the bak gene in uterine cervical carcinoma. Wani KM, etal., Br J Cancer. 2003 May 19;88(10):1584-6.
15. Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma. Wortham NC, etal., Fertil Steril. 2006 Oct;86(4):961-71. Epub 2006 Sep 7.
Additional References at PubMed
PMID:7715729   PMID:7715730   PMID:7715731   PMID:8521816   PMID:8887627   PMID:9020082   PMID:9027312   PMID:9111042   PMID:9463381   PMID:9573342   PMID:9843949   PMID:9878060  
PMID:9881696   PMID:10085290   PMID:10365962   PMID:10374970   PMID:10381623   PMID:10381646   PMID:10579309   PMID:10639121   PMID:10837489   PMID:10950869   PMID:11175750   PMID:11206074  
PMID:11326099   PMID:11571294   PMID:11728179   PMID:11795669   PMID:11867266   PMID:11908704   PMID:11929871   PMID:11932420   PMID:11940658   PMID:11964315   PMID:12070120   PMID:12137781  
PMID:12176904   PMID:12297281   PMID:12454021   PMID:12477932   PMID:12624108   PMID:12624178   PMID:12721291   PMID:12808108   PMID:12847083   PMID:12881569   PMID:14574404   PMID:14596824  
PMID:14647456   PMID:14702039   PMID:14980220   PMID:15003505   PMID:15077116   PMID:15124764   PMID:15159409   PMID:15194786   PMID:15248898   PMID:15292519   PMID:15322047   PMID:15351796  
PMID:15467752   PMID:15478112   PMID:15489334   PMID:15637055   PMID:15638360   PMID:15638362   PMID:15757910   PMID:15846303   PMID:15846589   PMID:15901672   PMID:16172118   PMID:16189514  
PMID:16199525   PMID:16341674   PMID:16376985   PMID:16410245   PMID:16436379   PMID:16439990   PMID:16509771   PMID:16529740   PMID:16712791   PMID:16794010   PMID:16847458   PMID:16874066  
PMID:16978419   PMID:16988840   PMID:17015472   PMID:17024184   PMID:17074758   PMID:17097560   PMID:17188240   PMID:17227835   PMID:17235284   PMID:17289999   PMID:17353931   PMID:17446862  
PMID:17513609   PMID:17606912   PMID:17686864   PMID:17698840   PMID:17699158   PMID:17724463   PMID:17879944   PMID:17880809   PMID:17927446   PMID:17991745   PMID:18040043   PMID:18056640  
PMID:18178565   PMID:18251703   PMID:18299329   PMID:18309324   PMID:18349538   PMID:18362892   PMID:18387192   PMID:18413764   PMID:18471982   PMID:18472157   PMID:18524770   PMID:18593893  
PMID:18636124   PMID:18665919   PMID:18676680   PMID:18715924   PMID:18927073   PMID:19041633   PMID:19056676   PMID:19060904   PMID:19074885   PMID:19135534   PMID:19148187   PMID:19168699  
PMID:19170196   PMID:19255499   PMID:19282307   PMID:19343496   PMID:19351886   PMID:19381065   PMID:19463775   PMID:19481066   PMID:19483105   PMID:19483681   PMID:19514060   PMID:19587033  
PMID:19593445   PMID:19625176   PMID:19692168   PMID:19820697   PMID:19875445   PMID:19910452   PMID:19913121   PMID:19955184   PMID:19968986   PMID:20023629   PMID:20034877   PMID:20139978  
PMID:20308427   PMID:20428767   PMID:20453000   PMID:20460378   PMID:20503275   PMID:20561923   PMID:20618440   PMID:20628086   PMID:20629644   PMID:20836993   PMID:20855536   PMID:20877624  
PMID:20959805   PMID:20978950   PMID:21036904   PMID:21041309   PMID:21132008   PMID:21148306   PMID:21158936   PMID:21159883   PMID:21196599   PMID:21233848   PMID:21613222   PMID:21617256  
PMID:21656147   PMID:21658363   PMID:21712378   PMID:21726118   PMID:21727192   PMID:21823019   PMID:21852253   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22006182   PMID:22013210  
PMID:22024133   PMID:22056880   PMID:22065578   PMID:22072546   PMID:22139419   PMID:22188816   PMID:22253918   PMID:22257632   PMID:22297299   PMID:22354970   PMID:22378505   PMID:22423221  
PMID:22440942   PMID:22493436   PMID:22504646   PMID:22515821   PMID:22516262   PMID:22526391   PMID:22686245   PMID:22700719   PMID:22719244   PMID:22934019   PMID:22939629   PMID:23028632  
PMID:23055042   PMID:23140172   PMID:23189150   PMID:23192964   PMID:23217248   PMID:23229512   PMID:23242420   PMID:23251661   PMID:23263863   PMID:23283967   PMID:23303126   PMID:23389372  
PMID:23404709   PMID:23443079   PMID:23480852   PMID:23604079   PMID:23666239   PMID:23666240   PMID:23680104   PMID:23770605   PMID:23782464   PMID:23798675   PMID:23928699   PMID:23954442  
PMID:23954445   PMID:23966164   PMID:24026423   PMID:24074954   PMID:24097825   PMID:24100034   PMID:24130482   PMID:24162660   PMID:24265320   PMID:24292274   PMID:24532468   PMID:24643683  
PMID:24672785   PMID:24680709   PMID:24739951   PMID:24794530   PMID:24850748   PMID:24901052   PMID:24970817   PMID:25012639   PMID:25115399   PMID:25175025   PMID:25228770   PMID:25246614  
PMID:25275009   PMID:25296756   PMID:25304383   PMID:25378477   PMID:25408501   PMID:25416956   PMID:25446129   PMID:25617717   PMID:25649765   PMID:25715028   PMID:25744027   PMID:25773855  
PMID:25880232   PMID:25893290   PMID:25906158   PMID:25999420   PMID:26004684   PMID:26030884   PMID:26045051   PMID:26134559   PMID:26179084   PMID:26186194   PMID:26264872   PMID:26344567  
PMID:26378049   PMID:26406239   PMID:26417093   PMID:26486506   PMID:26494789   PMID:26610208   PMID:26668309   PMID:26743580   PMID:26871637   PMID:27076518   PMID:27177325   PMID:27217060  
PMID:27310874   PMID:27401010   PMID:27555755   PMID:27701804   PMID:27818144   PMID:27845183   PMID:28064312   PMID:28182867   PMID:28295819   PMID:28337703   PMID:28514442   PMID:28676391  
PMID:28937296   PMID:29149594   PMID:29180619   PMID:29256070   PMID:29507755   PMID:29531808   PMID:29653560   PMID:29997244   PMID:30404157   PMID:30573668   PMID:30592293   PMID:30899020  
PMID:31261174   PMID:31467278   PMID:31515488   PMID:31637258   PMID:31767839   PMID:31981967   PMID:32038496   PMID:32054850   PMID:32064756   PMID:32226296   PMID:32234474   PMID:32296183  
PMID:32430171   PMID:32513923   PMID:32620849   PMID:32694731   PMID:32814053   PMID:32929280   PMID:33961781   PMID:34098062   PMID:34523144   PMID:34523147   PMID:34725331   PMID:34800366  
PMID:34857952   PMID:35017502   PMID:35094193   PMID:35120587   PMID:35876934   PMID:35918310   PMID:36230930   PMID:36346691   PMID:36610398   PMID:37398436   PMID:37507742   PMID:37903059  
PMID:38001340   PMID:38088212   PMID:38503846   PMID:38580884   PMID:38830851   PMID:39213434  


Genomics

Comparative Map Data
BAK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38633,572,552 - 33,580,276 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl633,572,547 - 33,580,293 (-)EnsemblGRCh38hg38GRCh38
GRCh37633,540,329 - 33,548,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36633,648,301 - 33,656,048 (-)NCBINCBI36Build 36hg18NCBI36
Build 34633,648,306 - 33,655,959NCBI
Celera635,094,701 - 35,102,448 (-)NCBICelera
Cytogenetic Map6p21.31NCBI
HuRef633,281,784 - 33,289,531 (-)NCBIHuRef
CHM1_1633,542,641 - 33,550,388 (-)NCBICHM1_1
T2T-CHM13v2.0633,393,742 - 33,401,466 (-)NCBIT2T-CHM13v2.0
Bak1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391727,238,786 - 27,247,601 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1727,238,784 - 27,247,983 (-)EnsemblGRCm39 Ensembl
GRCm381727,019,812 - 27,028,627 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1727,019,810 - 27,029,009 (-)EnsemblGRCm38mm10GRCm38
MGSCv371727,156,757 - 27,165,571 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361726,747,401 - 26,756,216 (-)NCBIMGSCv36mm8
Celera1727,556,267 - 27,565,056 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1713.65NCBI
Bak1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8205,102,334 - 5,111,615 (-)NCBIGRCr8
mRatBN7.2205,100,480 - 5,109,669 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl205,100,480 - 5,109,264 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx205,826,258 - 5,834,812 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0205,188,000 - 5,196,555 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0205,666,112 - 5,674,701 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0205,609,620 - 5,618,899 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl205,609,625 - 5,618,260 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0207,675,062 - 7,683,731 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4205,255,954 - 5,264,593 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1205,256,180 - 5,264,820 (-)NCBI
Celera206,681,267 - 6,689,805 (-)NCBICelera
Cytogenetic Map20p12NCBI
Bak1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554372,036,415 - 2,041,997 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554372,036,415 - 2,041,997 (-)NCBIChiLan1.0ChiLan1.0
BAK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2548,052,701 - 48,060,642 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1643,919,864 - 43,927,610 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0633,146,998 - 33,154,755 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1634,255,769 - 34,263,211 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl634,255,769 - 34,263,211 (-)Ensemblpanpan1.1panPan2
BAK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1122,950,359 - 2,957,604 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl122,948,364 - 2,957,018 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha122,967,686 - 2,970,924 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0123,282,315 - 3,289,076 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl123,280,333 - 3,289,013 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1122,950,651 - 2,953,887 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0123,031,622 - 3,034,860 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0123,129,752 - 3,132,990 (-)NCBIUU_Cfam_GSD_1.0
Bak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494638,605,488 - 38,612,704 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647625,347,545 - 25,355,789 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647625,347,608 - 25,354,772 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BAK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl729,808,849 - 29,815,318 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1729,808,849 - 29,815,345 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2734,279,191 - 34,286,287 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BAK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11738,492,776 - 38,502,534 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1738,492,858 - 38,501,281 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604433,412,290 - 33,419,643 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bak1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475423,296,800 - 23,301,223 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475423,297,077 - 23,302,366 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BAK1
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NC_000006.12:g.(?_33391986)_(33672228_?)dup duplication Intellectual disability, autosomal dominant 5 [RCV001032764] Chr6:33359763..33640005 [GRCh37]
Chr6:6p21.32-21.31
uncertain significance
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
NM_001188.4(BAK1):c.83C>T (p.Ala28Val) single nucleotide variant not provided [RCV000879093] Chr6:33575916 [GRCh38]
Chr6:33543693 [GRCh37]
Chr6:6p21.31
benign
NC_000006.11:g.(?_33388042)_(33756893_?)dup duplication Intellectual disability, autosomal dominant 5 [RCV001300699] Chr6:33388042..33756893 [GRCh37]
Chr6:6p21.32-21.31
uncertain significance
NM_001188.4(BAK1):c.620G>C (p.Arg207Thr) single nucleotide variant not specified [RCV004319210] Chr6:33573819 [GRCh38]
Chr6:33541596 [GRCh37]
Chr6:6p21.31
uncertain significance
GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391) copy number gain not specified [RCV002053566] Chr6:33069892..33751391 [GRCh37]
Chr6:6p21.32-21.31
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_001188.4(BAK1):c.478G>A (p.Asp160Asn) single nucleotide variant not specified [RCV004146323] Chr6:33574087 [GRCh38]
Chr6:33541864 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.403G>A (p.Gly135Ser) single nucleotide variant not specified [RCV004118534] Chr6:33574162 [GRCh38]
Chr6:33541939 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.380G>C (p.Arg127Pro) single nucleotide variant not specified [RCV004172000] Chr6:33574185 [GRCh38]
Chr6:33541962 [GRCh37]
Chr6:6p21.31
uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2
uncertain significance
NM_001188.4(BAK1):c.434A>G (p.His145Arg) single nucleotide variant not specified [RCV004340125] Chr6:33574131 [GRCh38]
Chr6:33541908 [GRCh37]
Chr6:6p21.31
likely benign
NM_001188.4(BAK1):c.424G>A (p.Val142Ile) single nucleotide variant not specified [RCV004423840] Chr6:33574141 [GRCh38]
Chr6:33541918 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.115G>A (p.Val39Ile) single nucleotide variant not specified [RCV004423839] Chr6:33575884 [GRCh38]
Chr6:33543661 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.578T>C (p.Val193Ala) single nucleotide variant not specified [RCV004423841] Chr6:33573861 [GRCh38]
Chr6:33541638 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.91A>G (p.Thr31Ala) single nucleotide variant not specified [RCV004423842] Chr6:33575908 [GRCh38]
Chr6:33543685 [GRCh37]
Chr6:6p21.31
uncertain significance
NM_001188.4(BAK1):c.617G>A (p.Arg206Gln) single nucleotide variant not specified [RCV004605563] Chr6:33573822 [GRCh38]
Chr6:33541599 [GRCh37]
Chr6:6p21.31
uncertain significance
NC_000006.11:g.(?_33388042)_(33679463_?)del deletion Intellectual disability, autosomal dominant 5 [RCV004578659] Chr6:33388042..33679463 [GRCh37]
Chr6:6p21.32-21.31
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18056640
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20886540
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21880154
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA21823019
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA20460378
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18056640
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20886540
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA21880154
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA21823019
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA20460378
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoFlow//Luciferase reporter assay//qRT-PCR//Western Functional MTI20616003

Predicted Target Of
Summary Value
Count of predictions:1882
Count of miRNA genes:634
Interacting mature miRNAs:706
Transcripts:ENST00000360661, ENST00000374467, ENST00000442998
Prediction methods:Miranda, Rnahybrid
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
597357466GWAS1453540_Hplatelet count QTL GWAS1453540 (human)1e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)63357474633574747Human
597375640GWAS1471714_Htesticular carcinoma QTL GWAS1471714 (human)1e-13testicular carcinoma63357476133574762Human
597612184GWAS1669044_Hjaw disease QTL GWAS1669044 (human)2e-11jaw disease63357305933573060Human
597372060GWAS1468134_Hplatelet count QTL GWAS1468134 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)63357394233573943Human
596986524GWAS1106043_Hplatelet count QTL GWAS1106043 (human)1e-218platelet quantity (VT:0003179)platelet count (CMO:0000029)63357915333579154Human
597613457GWAS1670317_Hplatelet count QTL GWAS1670317 (human)2e-202platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
597408139GWAS1504213_Hplatelet count QTL GWAS1504213 (human)9e-364platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
596986500GWAS1106019_Hplatelet crit QTL GWAS1106019 (human)2e-109platelet critplateletcrit (CMO:0001349)63357872133578722Human
596986499GWAS1106018_Hplatelet crit QTL GWAS1106018 (human)2e-274platelet critplateletcrit (CMO:0001349)63357373033573731Human
596949644GWAS1069163_Hplatelet count QTL GWAS1069163 (human)2e-241platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
597400706GWAS1496780_Hplatelet count QTL GWAS1496780 (human)7e-24platelet quantity (VT:0003179)platelet count (CMO:0000029)63357394233573943Human
596949645GWAS1069164_Hplatelet count QTL GWAS1069164 (human)2e-95platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
597594499GWAS1651359_Heosinophil count QTL GWAS1651359 (human)9e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597596288GWAS1653148_Heosinophil count QTL GWAS1653148 (human)3e-24eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357291533572916Human
597513397GWAS1609471_Hplatelet count QTL GWAS1609471 (human)4e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)63357563233575633Human
597424055GWAS1520129_Heosinophil count QTL GWAS1520129 (human)6e-21eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597383351GWAS1479425_Hplatelet count QTL GWAS1479425 (human)2e-53platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
597526700GWAS1622774_Hmitochondrial DNA measurement QTL GWAS1622774 (human)3e-16mitochondrial DNA measurement63357915333579154Human
597356207GWAS1452281_Hchronic lymphocytic leukemia QTL GWAS1452281 (human)5e-08leukocyte integrity trait (VT:0010898)63357906033579061Human
597612196GWAS1669056_Hplatelet count QTL GWAS1669056 (human)4e-179platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
596951214GWAS1070733_Hplatelet count QTL GWAS1070733 (human)8e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
597586851GWAS1643711_Heosinophil count QTL GWAS1643711 (human)1e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357291533572916Human
597450401GWAS1546475_Hplatelet count QTL GWAS1546475 (human)3e-31platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
597400997GWAS1497071_Hplatelet count QTL GWAS1497071 (human)2e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)63357474633574747Human
597414052GWAS1510126_Hmetabolic syndrome QTL GWAS1510126 (human)3e-09metabolic syndrome63357474633574747Human
597358554GWAS1454628_Hplatelet count QTL GWAS1454628 (human)1e-144platelet quantity (VT:0003179)platelet count (CMO:0000029)63357906033579061Human
596964567GWAS1084086_Hbasophil count, eosinophil count QTL GWAS1084086 (human)1e-18eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597362128GWAS1458202_Hneutrophil percentage of granulocytes QTL GWAS1458202 (human)3e-15neutrophil percentage of granulocytes63357915333579154Human
597587407GWAS1644267_Heosinophil count QTL GWAS1644267 (human)2e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597379016GWAS1475090_Htesticular carcinoma QTL GWAS1475090 (human)0.0000003testicular carcinoma63357476133574762Human
596949696GWAS1069215_Heosinophil count QTL GWAS1069215 (human)5e-36eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597452485GWAS1548559_Hplatelet count QTL GWAS1548559 (human)8e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
597362631GWAS1458705_Hbasophil count, eosinophil count QTL GWAS1458705 (human)1e-18eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597614787GWAS1671647_Hplatelet count QTL GWAS1671647 (human)2e-230platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
597423358GWAS1519432_Hplatelet-to-lymphocyte ratio QTL GWAS1519432 (human)2e-94platelet-to-lymphocyte ratio63357872133578722Human
596987122GWAS1106641_Hmitochondrial DNA measurement QTL GWAS1106641 (human)3e-16mitochondrial DNA measurement63357915333579154Human
596964604GWAS1084123_HHodgkins lymphoma, multiple myeloma, chronic lymphocytic leukemia QTL GWAS1084123 (human)7e-12leukocyte integrity trait (VT:0010898)63357915333579154Human
597579247GWAS1636107_Heosinophil count QTL GWAS1636107 (human)3e-19eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597596904GWAS1653764_Heosinophil count QTL GWAS1653764 (human)1e-31eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597428455GWAS1524529_Hplatelet count QTL GWAS1524529 (human)5e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
597360612GWAS1456686_Heosinophil count QTL GWAS1456686 (human)1e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
596987670GWAS1107189_Hplatelet count QTL GWAS1107189 (human)2e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)63357474633574747Human
597592856GWAS1649716_Hplatelet count QTL GWAS1649716 (human)3e-253platelet quantity (VT:0003179)platelet count (CMO:0000029)63357291533572916Human
597592851GWAS1649711_Hplatelet count QTL GWAS1649711 (human)2e-297platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
597359636GWAS1455710_Heosinophil percentage of leukocytes QTL GWAS1455710 (human)3e-17eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)63357373033573731Human
597374731GWAS1470805_Hplatelet count QTL GWAS1470805 (human)4e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)63357291533572916Human
597389322GWAS1485396_HTesticular Germ Cell Tumor QTL GWAS1485396 (human)4e-37Testicular Germ Cell Tumor63357476133574762Human
596964608GWAS1084127_Hchronic lymphocytic leukemia QTL GWAS1084127 (human)6e-16leukocyte integrity trait (VT:0010898)63357915333579154Human
597407748GWAS1503822_Hplatelet count QTL GWAS1503822 (human)2e-41platelet quantity (VT:0003179)platelet count (CMO:0000029)63357915333579154Human
597614399GWAS1671259_Hpotassium measurement QTL GWAS1671259 (human)3e-11potassium measurementblood potassium level (CMO:0000496)63357563233575633Human
596989748GWAS1109267_Hplatelet count QTL GWAS1109267 (human)9e-64platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
596990007GWAS1109526_Heosinophil percentage of leukocytes QTL GWAS1109526 (human)5e-17eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)63357915333579154Human
596987697GWAS1107216_Hplatelet count QTL GWAS1107216 (human)4e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)63357563233575633Human
596964658GWAS1084177_Hneutrophil percentage of granulocytes QTL GWAS1084177 (human)3e-15neutrophil percentage of granulocytes63357915333579154Human
597465915GWAS1561989_Hplatelet count QTL GWAS1561989 (human)2e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)63357915333579154Human
596990013GWAS1109532_Hplatelet count QTL GWAS1109532 (human)3e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
596989757GWAS1109276_Hplatelet count QTL GWAS1109276 (human)3e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)63357965233579653Human
596989756GWAS1109275_Heosinophil count QTL GWAS1109275 (human)6e-21eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
596949822GWAS1069341_Hplatelet count QTL GWAS1069341 (human)7e-24platelet quantity (VT:0003179)platelet count (CMO:0000029)63357394233573943Human
596990009GWAS1109528_Heosinophil count QTL GWAS1109528 (human)3e-25eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597591603GWAS1648463_Hthrombocytopenia 4 QTL GWAS1648463 (human)2e-19thrombocytopenia 463357651633576517Human
597366837GWAS1462911_Heosinophil percentage of leukocytes QTL GWAS1462911 (human)5e-17eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)63357915333579154Human
597374260GWAS1470334_Heosinophil count QTL GWAS1470334 (human)5e-36eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
596988730GWAS1108249_Hplatelet count QTL GWAS1108249 (human)5e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
597381678GWAS1477752_Htype 2 diabetes mellitus QTL GWAS1477752 (human)5e-09type 2 diabetes mellitus63357474633574747Human
597429034GWAS1525108_Hplatelet count QTL GWAS1525108 (human)2e-241platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
596985891GWAS1105410_Hplatelet count QTL GWAS1105410 (human)2e-53platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
597429035GWAS1525109_Hplatelet count QTL GWAS1525109 (human)2e-95platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
596988974GWAS1108493_Hmitochondrial DNA measurement QTL GWAS1108493 (human)3e-36mitochondrial DNA measurement63357915333579154Human
596985896GWAS1105415_Hsunburn QTL GWAS1105415 (human)7e-17sunburn63357373033573731Human
596949844GWAS1069363_Hplatelet count QTL GWAS1069363 (human)2e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)63357474633574747Human
596964692GWAS1084211_HTesticular Germ Cell Tumor QTL GWAS1084211 (human)4e-37Testicular Germ Cell Tumor63357476133574762Human
597365851GWAS1461925_Hplatelet count QTL GWAS1461925 (human)3e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
596964693GWAS1084212_HTesticular Germ Cell Tumor QTL GWAS1084212 (human)3e-34Testicular Germ Cell Tumor63357476133574762Human
597419097GWAS1515171_Hplatelet count QTL GWAS1515171 (human)3e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)63357965233579653Human
597018193GWAS1114267_Heosinophil count QTL GWAS1114267 (human)3e-25eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
597479256GWAS1575330_Hplatelet crit QTL GWAS1575330 (human)2e-109platelet critplateletcrit (CMO:0001349)63357872133578722Human
597419101GWAS1515175_Hplatelet count QTL GWAS1515175 (human)1e-218platelet quantity (VT:0003179)platelet count (CMO:0000029)63357915333579154Human
596964700GWAS1084219_Hplatelet crit QTL GWAS1084219 (human)3e-171platelet critplateletcrit (CMO:0001349)63357906033579061Human
597479255GWAS1575329_Hplatelet crit QTL GWAS1575329 (human)2e-274platelet critplateletcrit (CMO:0001349)63357373033573731Human
597591889GWAS1648749_Hhemorrhagic disease QTL GWAS1648749 (human)6e-17hemorrhagic disease63357651633576517Human
597404234GWAS1500308_Hsunburn QTL GWAS1500308 (human)7e-17sunburn63357373033573731Human
597426248GWAS1522322_Hplatelet count QTL GWAS1522322 (human)2e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)63357474633574747Human
596951886GWAS1071405_Hplatelet count QTL GWAS1071405 (human)3e-31platelet quantity (VT:0003179)platelet count (CMO:0000029)63357734833577349Human
596964169GWAS1083688_Hplatelet count QTL GWAS1083688 (human)9e-364platelet quantity (VT:0003179)platelet count (CMO:0000029)63357373033573731Human
597358715GWAS1454789_Hplatelet crit QTL GWAS1454789 (human)3e-171platelet critplateletcrit (CMO:0001349)63357906033579061Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
597363836GWAS1459910_Hchronic lymphocytic leukemia QTL GWAS1459910 (human)6e-16leukocyte integrity trait (VT:0010898)63357915333579154Human
596964732GWAS1084251_Heosinophil count QTL GWAS1084251 (human)1e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63357373033573731Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
596986489GWAS1106008_Htype 2 diabetes mellitus QTL GWAS1106008 (human)5e-09type 2 diabetes mellitus63357474633574747Human
596958842GWAS1078361_Hplatelet count QTL GWAS1078361 (human)2e-41platelet quantity (VT:0003179)platelet count (CMO:0000029)63357915333579154Human
597386868GWAS1482942_HTesticular Germ Cell Tumor QTL GWAS1482942 (human)3e-34Testicular Germ Cell Tumor63357476133574762Human
597428590GWAS1524664_Hmitochondrial DNA measurement QTL GWAS1524664 (human)3e-14mitochondrial DNA measurement63357872133578722Human
597371758GWAS1467832_Hchronic lymphocytic leukemia QTL GWAS1467832 (human)9e-16leukocyte integrity trait (VT:0010898)63357906033579061Human
596986221GWAS1105740_Hplatelet-to-lymphocyte ratio QTL GWAS1105740 (human)2e-94platelet-to-lymphocyte ratio63357872133578722Human
597444198GWAS1540272_Hplatelet count QTL GWAS1540272 (human)9e-64platelet quantity (VT:0003179)platelet count (CMO:0000029)63357872133578722Human
597362528GWAS1458602_HHodgkins lymphoma, multiple myeloma, chronic lymphocytic leukemia QTL GWAS1458602 (human)7e-12leukocyte integrity trait (VT:0010898)63357915333579154Human
597373799GWAS1469873_Htesticular carcinoma QTL GWAS1469873 (human)2e-24testicular carcinoma63357476133574762Human
596986219GWAS1105738_Hmitochondrial DNA measurement QTL GWAS1105738 (human)3e-14mitochondrial DNA measurement63357872133578722Human
597431650GWAS1527724_Hmitochondrial DNA measurement QTL GWAS1527724 (human)3e-36mitochondrial DNA measurement63357915333579154Human

Markers in Region
RH64934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372031,276,859 - 31,277,002UniSTSGRCh37
GRCh37633,540,457 - 33,540,600UniSTSGRCh37
Build 36633,648,435 - 33,648,578RGDNCBI36
Celera635,094,835 - 35,094,978RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map20q11.21UniSTS
HuRef2028,065,451 - 28,065,594UniSTS
HuRef633,281,918 - 33,282,061UniSTS
D11S4366  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS
Whitehead-YAC Contig Map11 UniSTS


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 2436 2788 2249 4964 1726 2349 5 623 1951 465 2269 7295 6463 53 3727 1 850 1740 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF520590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY260471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM855203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB142221 (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
  CR457419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON228216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U23765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000360661   ⟹   ENSP00000353878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl633,572,547 - 33,580,293 (-)Ensembl
Ensembl Acc Id: ENST00000374467   ⟹   ENSP00000363591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl633,572,552 - 33,580,276 (-)Ensembl
Ensembl Acc Id: ENST00000442998   ⟹   ENSP00000391258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl633,572,547 - 33,580,293 (-)Ensembl
RefSeq Acc Id: NM_001188   ⟹   NP_001179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,572,552 - 33,580,276 (-)NCBI
GRCh37633,540,323 - 33,548,072 (-)NCBI
Build 36633,648,301 - 33,656,048 (-)NCBI Archive
HuRef633,281,784 - 33,289,531 (-)ENTREZGENE
CHM1_1633,542,641 - 33,550,388 (-)NCBI
T2T-CHM13v2.0633,393,742 - 33,401,466 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514779   ⟹   XP_011513081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,572,552 - 33,580,276 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514780   ⟹   XP_011513082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,572,552 - 33,577,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419194   ⟹   XP_047275150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,574,221 - 33,580,276 (-)NCBI
RefSeq Acc Id: XM_047419196   ⟹   XP_047275152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,572,552 - 33,577,316 (-)NCBI
RefSeq Acc Id: XM_054356124   ⟹   XP_054212099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0633,393,742 - 33,401,466 (-)NCBI
RefSeq Acc Id: XM_054356125   ⟹   XP_054212100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0633,395,411 - 33,401,466 (-)NCBI
RefSeq Acc Id: XM_054356126   ⟹   XP_054212101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0633,393,742 - 33,398,819 (-)NCBI
RefSeq Acc Id: XM_054356127   ⟹   XP_054212102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0633,393,742 - 33,398,506 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001179 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513081 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275150 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212099 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212102 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA74466 (Get FASTA)   NCBI Sequence Viewer  
  AAA93066 (Get FASTA)   NCBI Sequence Viewer  
  AAH04431 (Get FASTA)   NCBI Sequence Viewer  
  AAI10338 (Get FASTA)   NCBI Sequence Viewer  
  AAM74949 (Get FASTA)   NCBI Sequence Viewer  
  AAO74828 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33392 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33393 (Get FASTA)   NCBI Sequence Viewer  
  BAA13606 (Get FASTA)   NCBI Sequence Viewer  
  BAF84782 (Get FASTA)   NCBI Sequence Viewer  
  BAG52419 (Get FASTA)   NCBI Sequence Viewer  
  BAG57025 (Get FASTA)   NCBI Sequence Viewer  
  BAG64474 (Get FASTA)   NCBI Sequence Viewer  
  CAA58997 (Get FASTA)   NCBI Sequence Viewer  
  CAG33700 (Get FASTA)   NCBI Sequence Viewer  
  CAI46254 (Get FASTA)   NCBI Sequence Viewer  
  EAX03740 (Get FASTA)   NCBI Sequence Viewer  
  EAX03741 (Get FASTA)   NCBI Sequence Viewer  
  EAX03742 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000363591
  ENSP00000363591.3
  ENSP00000391258.2
GenBank Protein Q16611 (Get FASTA)   NCBI Sequence Viewer  
  WEW62314 (Get FASTA)   NCBI Sequence Viewer  
  WEW62315 (Get FASTA)   NCBI Sequence Viewer  
  WEW62316 (Get FASTA)   NCBI Sequence Viewer  
  WEW62317 (Get FASTA)   NCBI Sequence Viewer  
  WEW62318 (Get FASTA)   NCBI Sequence Viewer  
  WEW62319 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001179   ⟸   NM_001188
- UniProtKB: Q16611 (UniProtKB/Swiss-Prot),   Q6I9T6 (UniProtKB/Swiss-Prot),   C0H5Y7 (UniProtKB/Swiss-Prot),   Q92533 (UniProtKB/Swiss-Prot),   A8K7S8 (UniProtKB/TrEMBL),   A0A0S2Z391 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513081   ⟸   XM_011514779
- Peptide Label: isoform X1
- UniProtKB: Q16611 (UniProtKB/Swiss-Prot),   Q6I9T6 (UniProtKB/Swiss-Prot),   C0H5Y7 (UniProtKB/Swiss-Prot),   Q92533 (UniProtKB/Swiss-Prot),   A8K7S8 (UniProtKB/TrEMBL),   A0A0S2Z391 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513082   ⟸   XM_011514780
- Peptide Label: isoform X3
- UniProtKB: B3KRK7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000363591   ⟸   ENST00000374467
Ensembl Acc Id: ENSP00000353878   ⟸   ENST00000360661
Ensembl Acc Id: ENSP00000391258   ⟸   ENST00000442998
RefSeq Acc Id: XP_047275152   ⟸   XM_047419196
- Peptide Label: isoform X3
- UniProtKB: B3KRK7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275150   ⟸   XM_047419194
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212099   ⟸   XM_054356124
- Peptide Label: isoform X1
- UniProtKB: Q92533 (UniProtKB/Swiss-Prot),   Q6I9T6 (UniProtKB/Swiss-Prot),   Q16611 (UniProtKB/Swiss-Prot),   C0H5Y7 (UniProtKB/Swiss-Prot),   A0A0S2Z391 (UniProtKB/TrEMBL),   A8K7S8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212101   ⟸   XM_054356126
- Peptide Label: isoform X3
- UniProtKB: B3KRK7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212102   ⟸   XM_054356127
- Peptide Label: isoform X3
- UniProtKB: B3KRK7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212100   ⟸   XM_054356125
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16611-F1-model_v2 AlphaFold Q16611 1-211 view protein structure

Promoters
RGD ID:6872898
Promoter ID:EPDNEW_H9614
Type:initiation region
Name:BAK1_1
Description:BCL2 antagonist/killer 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38633,580,259 - 33,580,319EPDNEW
RGD ID:6803781
Promoter ID:HG_KWN:53215
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003OER.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36633,650,856 - 33,651,356 (-)MPROMDB
RGD ID:6814760
Promoter ID:HG_XEF:6796
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_001020808,   NM_001077918,   NM_007523
Position:
Human AssemblyChrPosition (strand)Source
Build 36633,654,041 - 33,654,541 (-)MPROMDB
RGD ID:6803790
Promoter ID:HG_KWN:53216
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374460,   NM_001188,   UC003OET.1,   UC003OEU.1,   UC010JVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36633,655,694 - 33,656,194 (-)MPROMDB
RGD ID:6851266
Promoter ID:EP73431
Type:initiation region
Name:HS_BAK1
Description:BCL2-antagonist/killer 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36633,656,014 - 33,656,074EPD
RGD ID:6812963
Promoter ID:HG_ACW:68025
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BAK1.FAPR07,   FLJ43752.BAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36633,661,289 - 33,661,789 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:949 AgrOrtholog
COSMIC BAK1 COSMIC
Ensembl Genes ENSG00000030110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374467 ENTREZGENE
  ENST00000374467.4 UniProtKB/Swiss-Prot
  ENST00000442998.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.437.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000030110 GTEx
HGNC ID HGNC:949 ENTREZGENE
Human Proteome Map BAK1 Human Proteome Map
InterPro Bcl-2_BH1-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bcl2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bcl2_BH1_motif_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bcl2_BH2_motif_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bcl2_BH3_motif_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Blc2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Blc2_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:578 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 578 ENTREZGENE
OMIM 600516 OMIM
PANTHER BCL-2 HOMOLOGOUS ANTAGONIST/KILLER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCL-2 HOMOLOGOUS ANTAGONIST/KILLER UniProtKB/TrEMBL
  PTHR11256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bcl-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB BAK1 RGD, PharmGKB
PRINTS BCL2FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BCL2_FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BCL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z319_HUMAN UniProtKB/TrEMBL
  A0A0S2Z391 ENTREZGENE, UniProtKB/TrEMBL
  A8K7S8 ENTREZGENE, UniProtKB/TrEMBL
  B3KRK7 ENTREZGENE, UniProtKB/TrEMBL
  BAK_HUMAN UniProtKB/Swiss-Prot
  C0H5Y7 ENTREZGENE
  Q16611 ENTREZGENE
  Q6I9T6 ENTREZGENE
  Q92533 ENTREZGENE
UniProt Secondary C0H5Y7 UniProtKB/Swiss-Prot
  Q6I9T6 UniProtKB/Swiss-Prot
  Q92533 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 BAK1  BCL2 antagonist/killer 1  BAK1  BCL2-antagonist/killer 1  Symbol and/or name change 5135510 APPROVED