ULK1 (unc-51 like autophagy activating kinase 1) - Rat Genome Database

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Gene: ULK1 (unc-51 like autophagy activating kinase 1) Homo sapiens
Analyze
Symbol: ULK1
Name: unc-51 like autophagy activating kinase 1
RGD ID: 1344835
HGNC Page HGNC
Description: Enables identical protein binding activity; protein serine/threonine kinase activity; and small GTPase binding activity. Involved in several processes, including protein phosphorylation; regulation of autophagy; and regulation of protein lipidation. Located in several cellular components, including Atg1/ULK1 kinase complex; autophagosome; and phagophore assembly site membrane. Is extrinsic component of autophagosome membrane; extrinsic component of omegasome membrane; and extrinsic component of phagophore assembly site membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATG1; ATG1 autophagy related 1 homolog; ATG1A; autophagy-related protein 1 homolog; FLJ38455; FLJ46475; hATG1; serine/threonine-protein kinase ULK1; UNC51; Unc51.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812131,894,622 - 131,923,150 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl12131,894,622 - 131,923,150 (+)EnsemblGRCh38hg38GRCh38
GRCh3712132,379,167 - 132,407,695 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612130,945,232 - 130,973,649 (+)NCBINCBI36hg18NCBI36
Build 3412131,045,508 - 131,073,926NCBI
Celera12132,008,428 - 132,026,099 (+)NCBI
Cytogenetic Map12q24.33NCBI
HuRef12129,276,372 - 129,293,381 (+)NCBIHuRef
CHM1_112132,200,212 - 132,228,619 (+)NCBICHM1_1
T2T-CHM13v2.012131,939,343 - 131,971,098 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (EXP)
(-)-anisomycin  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (EXP)
3-methyladenine  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
acadesine  (EXP)
aflatoxin B1  (EXP)
AICA ribonucleotide  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha,alpha-trehalose  (ISO)
amphetamine  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
artesunate  (EXP)
bafilomycin A1  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
buspirone  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP,ISO)
Cannabidivarin  (ISO)
carbon disulfide  (EXP,ISO)
carbon nanotube  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cucurbitacin E  (EXP)
Curcumol  (ISO)
cyanocob(III)alamin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
dinitrogen  (EXP)
diosgenin  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP,ISO)
econazole  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycine betaine  (ISO)
L-methionine  (ISO)
maslinic acid  (ISO)
metformin  (EXP)
methamphetamine  (ISO)
methylazoxymethanol  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
myxothiazol  (EXP)
N-(1,3-benzodioxol-5-ylmethyl)-2,6-dichlorobenzamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
Nonidet P-40  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
promethazine  (EXP)
propiconazole  (ISO)
quercetin  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP)
tebuconazole  (ISO)
Temsirolimus  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
torin 1  (EXP)
trans-piceid  (EXP)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zidovudine  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagosome assembly  (IBA,IDA)
autophagy  (IDA,IEA,IGI,IMP,ISS)
autophagy of mitochondrion  (IBA)
axon extension  (IBA,ISO)
axonogenesis  (IEA,ISO)
cellular response to amino acid starvation  (ISO)
cellular response to nutrient levels  (ISS)
cerebellar granule cell differentiation  (ISO)
collateral sprouting  (ISO)
establishment of localization in cell  (ISO)
late nucleophagy  (IBA)
macroautophagy  (IMP,ISO,TAS)
mitophagy  (ISO)
negative regulation of cell population proliferation  (IDA)
negative regulation of collateral sprouting  (IBA,ISO)
negative regulation of protein-containing complex assembly  (IDA)
neuron migration  (ISO)
neuron projection development  (IEA,IMP,ISO)
neuron projection regeneration  (IEA,ISO)
peptidyl-serine phosphorylation  (IBA,IDA)
peptidyl-threonine phosphorylation  (IDA)
phosphorylation  (IEA)
piecemeal microautophagy of the nucleus  (IBA)
positive regulation of autophagosome assembly  (IEA,ISO)
positive regulation of autophagy  (IBA,IDA,ISS)
protein autophosphorylation  (IDA,ISO)
protein localization  (IMP)
protein phosphorylation  (IDA,IEA,NAS)
radial glia guided migration of cerebellar granule cell  (ISO)
Ras protein signal transduction  (ISO)
receptor internalization  (ISO)
regulation of cell death  (ISO)
regulation of gene expression  (ISO)
regulation of macroautophagy  (IDA)
regulation of neurotrophin TRK receptor signaling pathway  (ISO)
regulation of protein lipidation  (IDA)
response to mitochondrial depolarisation  (ISO)
response to starvation  (IBA,ISS)
reticulophagy  (IBA)
signal transduction  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Assessment of the effect of laser irradiations at different wavelengths (660, 810, 980, and 1064 nm) on autophagy in a rat model of mucositis. Bostanciklioglu M, etal., Lasers Med Sci. 2015 May;30(4):1289-95. doi: 10.1007/s10103-015-1727-4. Epub 2015 Mar 3.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Tougu Xiaotong capsule inhibits the tidemark replication and cartilage degradation of papain-induced osteoarthritis by the regulation of chondrocyte autophagy. Li X, etal., Int J Mol Med. 2013 Jun;31(6):1349-56. doi: 10.3892/ijmm.2013.1341. Epub 2013 Apr 9.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Early and sustained activation of autophagy in degenerating axons after spinal cord injury. Ribas VT, etal., Brain Pathol. 2015 Mar;25(2):157-70. doi: 10.1111/bpa.12170. Epub 2014 Sep 12.
9. LC3 conjugation system in mammalian autophagy. Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.
10. Selective removal of mitochondria via mitophagy: distinct pathways for different mitochondrial stresses. Wei H, etal., Biochim Biophys Acta. 2015 Oct;1853(10 Pt B):2784-90. doi: 10.1016/j.bbamcr.2015.03.013. Epub 2015 Apr 1.
11. Mammalian autophagy: core molecular machinery and signaling regulation. Yang Z and Klionsky DJ, Curr Opin Cell Biol. 2010 Apr;22(2):124-31. Epub 2009 Dec 23.
Additional References at PubMed
PMID:8889548   PMID:9693035   PMID:9872452   PMID:11076863   PMID:11146101   PMID:12477932   PMID:14702039   PMID:15014045   PMID:16616143   PMID:16940348   PMID:17081983   PMID:17192257  
PMID:17353931   PMID:17389358   PMID:17595159   PMID:18007665   PMID:18936157   PMID:19211835   PMID:19225151   PMID:19258318   PMID:19287211   PMID:19597335   PMID:19690328   PMID:20562859  
PMID:20921139   PMID:21072212   PMID:21169990   PMID:21205641   PMID:21241894   PMID:21258367   PMID:21460630   PMID:21460634   PMID:21475306   PMID:21518141   PMID:21560199   PMID:21795849  
PMID:21819378   PMID:21855797   PMID:21873635   PMID:22321011   PMID:22354037   PMID:22456507   PMID:22539723   PMID:22585231   PMID:22613832   PMID:22885598   PMID:23027865   PMID:23043107  
PMID:23078367   PMID:23262492   PMID:23291726   PMID:23392225   PMID:23524951   PMID:23716696   PMID:23849170   PMID:23863160   PMID:24013547   PMID:24066173   PMID:24119841   PMID:24290141  
PMID:24306881   PMID:24603492   PMID:24671035   PMID:24955726   PMID:25040165   PMID:25126726   PMID:25127057   PMID:25266655   PMID:25429619   PMID:25438055   PMID:25541949   PMID:25678702  
PMID:25686248   PMID:25701603   PMID:25714809   PMID:25723488   PMID:25749095   PMID:25761126   PMID:25792739   PMID:25847297   PMID:25891078   PMID:25892232   PMID:25909887   PMID:25925668  
PMID:25980607   PMID:26018823   PMID:26103054   PMID:26183158   PMID:26207339   PMID:26282792   PMID:26299883   PMID:26299944   PMID:26310906   PMID:26347139   PMID:26593251   PMID:26687681  
PMID:27023913   PMID:27046250   PMID:27068414   PMID:27103069   PMID:27153534   PMID:27203176   PMID:27334615   PMID:27387056   PMID:27485354   PMID:27510922   PMID:27617292   PMID:27629431  
PMID:27679555   PMID:27687210   PMID:27693506   PMID:27693792   PMID:27742708   PMID:27783190   PMID:27846372   PMID:27864418   PMID:27871932   PMID:27875067   PMID:27932573   PMID:27934868  
PMID:27938392   PMID:28011640   PMID:28032867   PMID:28059666   PMID:28069524   PMID:28073914   PMID:28079894   PMID:28195531   PMID:28253953   PMID:28389568   PMID:28410240   PMID:28430962  
PMID:28486929   PMID:28498429   PMID:28514442   PMID:28518135   PMID:28561066   PMID:28614291   PMID:28639909   PMID:28653878   PMID:28667165   PMID:28677209   PMID:28716898   PMID:28791376  
PMID:28796254   PMID:28820317   PMID:28821708   PMID:28877469   PMID:28890335   PMID:29091866   PMID:29109831   PMID:29117863   PMID:29128638   PMID:29148569   PMID:29196462   PMID:29251248  
PMID:29313410   PMID:29321306   PMID:29330382   PMID:29453315   PMID:29470986   PMID:29487085   PMID:29604308   PMID:29634390   PMID:29929428   PMID:29950492   PMID:30001707   PMID:30021155  
PMID:30046135   PMID:30078736   PMID:30103670   PMID:30335599   PMID:30459284   PMID:30497781   PMID:30517873   PMID:30545560   PMID:30596474   PMID:30625316   PMID:30669939   PMID:30782972  
PMID:30808462   PMID:30853401   PMID:30907226   PMID:30957634   PMID:31123703   PMID:31160490   PMID:31208283   PMID:31267703   PMID:31291454   PMID:31311432   PMID:31362587   PMID:31524222  
PMID:31586073   PMID:31696776   PMID:31723608   PMID:31732843   PMID:31806350   PMID:31821132   PMID:31900314   PMID:31913283   PMID:31923418   PMID:31959741   PMID:31983282   PMID:31986961  
PMID:32035621   PMID:32125086   PMID:32203415   PMID:32317083   PMID:32320653   PMID:32393312   PMID:32453962   PMID:32516310   PMID:32516362   PMID:32543267   PMID:32668203   PMID:32705220  
PMID:32707033   PMID:32773036   PMID:32807901   PMID:32854424   PMID:32913252   PMID:33040463   PMID:33078654   PMID:33149253   PMID:33160989   PMID:33172148   PMID:33201521   PMID:33213267  
PMID:33328309   PMID:33422265   PMID:33450483   PMID:33463048   PMID:33499712   PMID:33531625   PMID:33545068   PMID:33572255   PMID:33669246   PMID:33735626   PMID:33932238   PMID:33961781  
PMID:33988678   PMID:34096600   PMID:34107300   PMID:34162658   PMID:34204950   PMID:34224814   PMID:34226595   PMID:34259310   PMID:34345207   PMID:34369843   PMID:34382905   PMID:34421918  
PMID:34454184   PMID:34555439   PMID:34578425   PMID:34592149   PMID:34654847   PMID:35246531   PMID:35271311  


Genomics

Comparative Map Data
ULK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812131,894,622 - 131,923,150 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl12131,894,622 - 131,923,150 (+)EnsemblGRCh38hg38GRCh38
GRCh3712132,379,167 - 132,407,695 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612130,945,232 - 130,973,649 (+)NCBINCBI36hg18NCBI36
Build 3412131,045,508 - 131,073,926NCBI
Celera12132,008,428 - 132,026,099 (+)NCBI
Cytogenetic Map12q24.33NCBI
HuRef12129,276,372 - 129,293,381 (+)NCBIHuRef
CHM1_112132,200,212 - 132,228,619 (+)NCBICHM1_1
T2T-CHM13v2.012131,939,343 - 131,971,098 (+)NCBI
Ulk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395110,932,355 - 110,957,991 (-)NCBIGRCm39mm39
GRCm39 Ensembl5110,932,354 - 110,957,963 (-)Ensembl
GRCm385110,784,489 - 110,810,120 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5110,784,488 - 110,810,097 (-)EnsemblGRCm38mm10GRCm38
MGSCv375111,213,508 - 111,239,100 (-)NCBIGRCm37mm9NCBIm37
MGSCv365111,024,791 - 111,050,383 (-)NCBImm8
Celera5107,916,517 - 107,942,075 (-)NCBICelera
Cytogenetic Map5FNCBI
Ulk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21245,851,710 - 45,877,966 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1245,851,710 - 45,877,966 (+)Ensembl
Rnor_6.01251,908,105 - 51,934,704 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1251,908,448 - 51,934,702 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01253,646,513 - 53,673,055 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41245,996,251 - 46,022,505 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1247,411,122 - 47,437,376 (+)NCBICelera
Cytogenetic Map12q16NCBI
Ulk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955482761,811 - 777,133 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955482760,200 - 777,133 (-)NCBIChiLan1.0ChiLan1.0
ULK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112133,980,316 - 134,007,687 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v012129,549,399 - 129,579,087 (+)NCBIMhudiblu_PPA_v0panPan3
ULK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.126968,714 - 982,244 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl26970,138 - 982,229 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha261,012,410 - 1,033,785 (-)NCBI
ROS_Cfam_1.0261,030,431 - 1,051,812 (-)NCBI
ROS_Cfam_1.0 Ensembl261,030,432 - 1,051,789 (-)Ensembl
UMICH_Zoey_3.126967,560 - 988,930 (-)NCBI
UNSW_CanFamBas_1.0261,064,168 - 1,085,536 (-)NCBI
UU_Cfam_GSD_1.026987,330 - 1,008,708 (-)NCBI
Ulk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118122,532,232 - 122,560,686 (-)NCBI
SpeTri2.0NW_0049366602,160,394 - 2,188,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ULK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1423,423,696 - 23,448,138 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11423,423,693 - 23,448,130 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21424,875,257 - 24,913,433 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ULK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111127,276,172 - 127,304,270 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl11127,276,210 - 127,304,497 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037117,654,277 - 117,669,065 (-)NCBIVero_WHO_p1.0
Ulk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474727,681,033 - 27,695,966 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462474727,680,994 - 27,697,342 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH93440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712132,407,095 - 132,407,220UniSTSGRCh37
Build 3612130,973,048 - 130,973,173RGDNCBI36
Celera12132,025,487 - 132,025,612RGD
Cytogenetic Map12q24.3UniSTS
HuRef12129,292,769 - 129,292,894UniSTS
GeneMap99-GB4 RH Map12500.61UniSTS
ULK1_8802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712132,406,722 - 132,407,626UniSTSGRCh37
Build 3612130,972,675 - 130,973,579RGDNCBI36
Celera12132,025,114 - 132,026,018RGD
HuRef12129,292,396 - 129,293,300UniSTS
IB2452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712132,407,196 - 132,407,429UniSTSGRCh37
Build 3612130,973,149 - 130,973,382RGDNCBI36
Celera12132,025,588 - 132,025,821RGD
Cytogenetic Map12q24.3UniSTS
HuRef12129,292,870 - 129,293,103UniSTS
GeneMap99-GB4 RH Map12500.61UniSTS
Whitehead-RH Map12627.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3275
Count of miRNA genes:1031
Interacting mature miRNAs:1264
Transcripts:ENST00000321867, ENST00000537421, ENST00000540568, ENST00000540647, ENST00000541761, ENST00000542313, ENST00000544718
Prediction methods:Microtar, 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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2391 2888 1656 560 1550 403 4341 2123 3409 352 1432 1594 173 1 1198 2787 4
Low 48 103 70 64 400 62 16 74 325 67 28 19 2 6 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI822269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU729635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF131673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000321867   ⟹   ENSP00000324560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,894,622 - 131,923,150 (+)Ensembl
RefSeq Acc Id: ENST00000537421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,906,490 - 131,909,996 (+)Ensembl
RefSeq Acc Id: ENST00000540568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,920,067 - 131,922,281 (+)Ensembl
RefSeq Acc Id: ENST00000540647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,918,302 - 131,921,550 (+)Ensembl
RefSeq Acc Id: ENST00000541761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,915,943 - 131,919,385 (+)Ensembl
RefSeq Acc Id: ENST00000542313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,908,619 - 131,909,169 (+)Ensembl
RefSeq Acc Id: ENST00000544718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12131,919,241 - 131,921,951 (+)Ensembl
RefSeq Acc Id: NM_003565   ⟹   NP_003556
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812131,894,622 - 131,923,150 (+)NCBI
GRCh3712132,379,279 - 132,407,707 (+)ENTREZGENE
Build 3612130,945,232 - 130,973,649 (+)NCBI Archive
HuRef12129,276,372 - 129,293,381 (+)ENTREZGENE
CHM1_112132,200,212 - 132,228,619 (+)NCBI
T2T-CHM13v2.012131,939,343 - 131,971,098 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538798   ⟹   XP_011537100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812131,894,622 - 131,923,150 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538799   ⟹   XP_011537101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812131,894,622 - 131,923,150 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007063134
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812131,894,622 - 131,919,564 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_003556   ⟸   NM_003565
- Sequence:
RefSeq Acc Id: XP_011537100   ⟸   XM_011538798
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537101   ⟸   XM_011538799
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000324560   ⟸   ENST00000321867
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75385-F1-model_v2 AlphaFold O75385 1-1050 view protein structure

Promoters
RGD ID:6790642
Promoter ID:HG_KWN:17072
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003565
Position:
Human AssemblyChrPosition (strand)Source
Build 3612130,944,926 - 130,945,426 (+)MPROMDB
RGD ID:6810453
Promoter ID:HG_ACW:19845
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ULK1.DAPR07,   ULK1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612130,959,006 - 130,959,506 (+)MPROMDB
RGD ID:7225869
Promoter ID:EPDNEW_H18680
Type:initiation region
Name:ULK1_1
Description:unc-51 like autophagy activating kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812131,894,644 - 131,894,704EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 copy number gain See cases [RCV000051151] Chr12:123444758..133191400 [GRCh38]
Chr12:123929305..133767986 [GRCh37]
Chr12:122495258..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3 copy number gain See cases [RCV000053715] Chr12:126403612..133166920 [GRCh38]
Chr12:126888158..133743506 [GRCh37]
Chr12:125454111..132253579 [NCBI36]
Chr12:12q24.32-24.33
pathogenic
GRCh38/hg38 12q24.33(chr12:131049491-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|See cases [RCV000053717] Chr12:131049491..133191400 [GRCh38]
Chr12:131534036..133767986 [GRCh37]
Chr12:130099989..132278059 [NCBI36]
Chr12:12q24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] Chr12:123365769..133191400 [GRCh38]
Chr12:123850316..133767986 [GRCh37]
Chr12:122416269..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
NM_003565.2(ULK1):c.1631C>G (p.Ser544Cys) single nucleotide variant Malignant melanoma [RCV000062449] Chr12:131915912 [GRCh38]
Chr12:132400457 [GRCh37]
Chr12:130966410 [NCBI36]
Chr12:12q24.33
not provided
GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1 copy number loss See cases [RCV000134173] Chr12:131650542..133191400 [GRCh38]
Chr12:132135087..133767986 [GRCh37]
Chr12:130701040..132278059 [NCBI36]
Chr12:12q24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 copy number gain See cases [RCV000135535] Chr12:123509825..133191400 [GRCh38]
Chr12:123994372..133767986 [GRCh37]
Chr12:122560325..132278059 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q24.33(chr12:131749518-133777902)x1 copy number loss See cases [RCV000449052] Chr12:131749518..133777902 [GRCh37]
Chr12:12q24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:132073314-132457696)x3 copy number gain See cases [RCV000446039] Chr12:132073314..132457696 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132382041-133777902)x1 copy number loss See cases [RCV000446819] Chr12:132382041..133777902 [GRCh37]
Chr12:12q24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:131862310-133777902)x1 copy number loss See cases [RCV000447834] Chr12:131862310..133777902 [GRCh37]
Chr12:12q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:131808459-132623611)x3 copy number gain not provided [RCV000683450] Chr12:131808459..132623611 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132405650-132664387)x3 copy number gain not provided [RCV000683412] Chr12:132405650..132664387 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3 copy number gain not provided [RCV000683469] Chr12:130973400..133777902 [GRCh37]
Chr12:12q24.33
likely pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:132335572-132404616)x3 copy number gain not provided [RCV000738098] Chr12:132335572..132404616 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132335572-132405765)x3 copy number gain not provided [RCV000738099] Chr12:132335572..132405765 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132381920-132401566)x3 copy number gain not provided [RCV000738100] Chr12:132381920..132401566 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132393315-132560241)x3 copy number gain not provided [RCV000738101] Chr12:132393315..132560241 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132401039-132405765)x1 copy number loss not provided [RCV000738102] Chr12:132401039..132405765 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132401039-132409252)x1 copy number loss not provided [RCV000738103] Chr12:132401039..132409252 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132401085-132409252)x1 copy number loss not provided [RCV000738104] Chr12:132401085..132409252 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132239542-132424944)x3 copy number gain not provided [RCV000750628] Chr12:132239542..132424944 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132306125-132405748)x3 copy number gain not provided [RCV000750629] Chr12:132306125..132405748 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.648G>A (p.Thr216=) single nucleotide variant not provided [RCV000962282] Chr12:131909219 [GRCh38]
Chr12:132393764 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.1994C>T (p.Ser665Leu) single nucleotide variant not provided [RCV000968855] Chr12:131916513 [GRCh38]
Chr12:132401058 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2871G>A (p.Leu957=) single nucleotide variant not provided [RCV000968914] Chr12:131920046 [GRCh38]
Chr12:132404591 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2684+10G>A single nucleotide variant not provided [RCV000922447] Chr12:131919394 [GRCh38]
Chr12:132403939 [GRCh37]
Chr12:12q24.33
likely benign
NM_003565.4(ULK1):c.1722C>G (p.Pro574=) single nucleotide variant not provided [RCV000900150] Chr12:131916003 [GRCh38]
Chr12:132400548 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.1788G>A (p.Leu596=) single nucleotide variant not provided [RCV000947508] Chr12:131916069 [GRCh38]
Chr12:132400614 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2271C>A (p.Gly757=) single nucleotide variant not provided [RCV000951304] Chr12:131917499 [GRCh38]
Chr12:132402044 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2769C>T (p.Ala923=) single nucleotide variant not provided [RCV000891883] Chr12:131919556 [GRCh38]
Chr12:132404101 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.1721C>G (p.Pro574Arg) single nucleotide variant not provided [RCV000906458] Chr12:131916002 [GRCh38]
Chr12:132400547 [GRCh37]
Chr12:12q24.33
likely benign
GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) copy number gain not provided [RCV000767827] Chr12:125451405..133810935 [GRCh37]
Chr12:12q24.31-24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3 copy number gain See cases [RCV000790570] Chr12:131363916..133777645 [GRCh37]
Chr12:12q24.33
pathogenic
GRCh37/hg19 12q24.33(chr12:132382041-132975645)x3 copy number gain not provided [RCV000849719] Chr12:132382041..132975645 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132395175-132545601)x3 copy number gain not provided [RCV000848859] Chr12:132395175..132545601 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1 copy number loss not provided [RCV000848702] Chr12:126470636..133777902 [GRCh37]
Chr12:12q24.32-24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132343915-132665554)x3 copy number gain not provided [RCV000847961] Chr12:132343915..132665554 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:131505849-132681966)x3 copy number gain not provided [RCV000848354] Chr12:131505849..132681966 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132343915-132462319)x3 copy number gain not provided [RCV000848475] Chr12:132343915..132462319 [GRCh37]
Chr12:12q24.33
uncertain significance
NM_003565.4(ULK1):c.2896C>A (p.Arg966=) single nucleotide variant not provided [RCV000963482] Chr12:131920071 [GRCh38]
Chr12:132404616 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.1355C>G (p.Thr452Ser) single nucleotide variant not provided [RCV000963975] Chr12:131914459 [GRCh38]
Chr12:132399004 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2778C>T (p.Leu926=) single nucleotide variant not provided [RCV000968913] Chr12:131919565 [GRCh38]
Chr12:132404110 [GRCh37]
Chr12:12q24.33
benign
NM_003565.4(ULK1):c.2183-3C>T single nucleotide variant not provided [RCV000912548] Chr12:131917408 [GRCh38]
Chr12:132401953 [GRCh37]
Chr12:12q24.33
benign
GRCh37/hg19 12q24.33(chr12:132382041-132887378)x3 copy number gain not provided [RCV001260178] Chr12:132382041..132887378 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.33(chr12:132230559-132545601)x3 copy number gain not provided [RCV001260181] Chr12:132230559..132545601 [GRCh37]
Chr12:12q24.33
uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33
likely pathogenic
GRCh37/hg19 12q24.33(chr12:131657203-133227428) copy number loss not specified [RCV002053033] Chr12:131657203..133227428 [GRCh37]
Chr12:12q24.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12558 AgrOrtholog
COSMIC ULK1 COSMIC
Ensembl Genes ENSG00000177169 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000324560 ENTREZGENE
  ENSP00000324560.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321867 ENTREZGENE
  ENST00000321867.6 UniProtKB/Swiss-Prot
GTEx ENSG00000177169 GTEx
HGNC ID HGNC:12558 ENTREZGENE
Human Proteome Map ULK1 Human Proteome Map
InterPro Atg1-like UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser/Thr_kin_STPK_Ulk-1/2 UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_C UniProtKB/Swiss-Prot
KEGG Report hsa:8408 UniProtKB/Swiss-Prot
NCBI Gene 8408 ENTREZGENE
OMIM 603168 OMIM
PANTHER PTHR24348 UniProtKB/Swiss-Prot
Pfam DUF3543 UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot
PharmGKB PA37198 PharmGKB
PIRSF Ser/Thr_PK_STPK_ULK-1/2 UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt O75385 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9UQ28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-09 ULK1  unc-51 like autophagy activating kinase 1    unc-51-like kinase 1 (C. elegans)  Symbol and/or name change 5135510 APPROVED