ATG3 (autophagy related 3) - Rat Genome Database

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Advanced Search (OLGA)
Gene: ATG3 (autophagy related 3) Homo sapiens
Analyze
Symbol: ATG3
Name: autophagy related 3
RGD ID: 1353416
HGNC Page HGNC:20962
Description: Enables Atg8-family conjugating enzyme activity and enzyme binding activity. Involved in autophagosome assembly and protein ubiquitination. Located in cytosol. Part of Atg12-Atg5-Atg16 complex. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2610016C12Rik; APG3; APG3 autophagy 3-like; apg3 autophagy 3-like (s. cerevisiae); APG3-LIKE; APG3L; ATG3 autophagy related 3 homolog; autophagy Apg3p/Aut1p-like; autophagy-related protein 3; DKFZp564M1178; FLJ22125; hApg3; MGC15201; PC3-96; ubiquitin-like-conjugating enzyme ATG3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ATG3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383112,532,510 - 112,561,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3112,532,510 - 112,562,046 (-)EnsemblGRCh38hg38GRCh38
GRCh373112,251,357 - 112,280,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363113,734,049 - 113,763,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 343113,734,049 - 113,763,175NCBI
Celera3110,660,041 - 110,689,158 (-)NCBICelera
Cytogenetic Map3q13.2NCBI
HuRef3109,635,431 - 109,664,875 (-)NCBIHuRef
CHM1_13112,215,286 - 112,244,741 (-)NCBICHM1_1
T2T-CHM13v2.03115,253,546 - 115,282,997 (-)NCBIT2T-CHM13v2.0
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
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-bromohexadecanoic acid  (EXP)
2-deoxy-D-glucose  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (EXP)
acrylamide  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
artesunate  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfide  (EXP)
cantharidin  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
crocidolite asbestos  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
diarsenic trioxide  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
enniatin  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
fingolimod hydrochloride  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
galangin  (EXP)
gentamycin  (EXP,ISO)
glucose  (ISO)
glyphosate  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lycopene  (ISO)
methidathion  (ISO)
nickel atom  (EXP)
oligopeptide  (EXP)
paracetamol  (ISO)
perfluorobutyric acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
platycodin D  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sulindac  (ISO)
syringic acid  (EXP)
T-2 toxin  (ISO)
theophylline  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
trovafloxacin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
autophagy pathway  (IEA,ISO,TAS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Hydrogen sulfide alleviates myocardial fibrosis in mice with alcoholic cardiomyopathy by downregulating autophagy. Liang B, etal., Int J Mol Med. 2017 Dec;40(6):1781-1791. doi: 10.3892/ijmm.2017.3191. Epub 2017 Oct 16.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
6. LC3 conjugation system in mammalian autophagy. Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.
7. The rat Apg3p/Aut1p homolog is upregulated by ischemic preconditioning in the retina. Wu BX, etal., Mol Vis. 2006 Oct 26;12:1292-302.
8. 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.
9. The protective effect of puerarin-loaded mesoporous silicon nanoparticles on alcoholic hepatitis through mTOR-mediated autophagy pathway. Zhang XX, etal., Biomed Microdevices. 2022 Oct 29;24(4):37. doi: 10.1007/s10544-022-00622-2.
Additional References at PubMed
PMID:11825910   PMID:12207896   PMID:12890687   PMID:14702039   PMID:15144186   PMID:15355958   PMID:15489334   PMID:15592455   PMID:16303767   PMID:16704426   PMID:17353931   PMID:18083104  
PMID:19342671   PMID:19838173   PMID:19932681   PMID:20061800   PMID:20562859   PMID:20697744   PMID:20723759   PMID:21873635   PMID:22644571   PMID:22863883   PMID:23119048   PMID:23202584  
PMID:23824909   PMID:23829686   PMID:24023838   PMID:24186333   PMID:24191030   PMID:24420857   PMID:24747438   PMID:25147182   PMID:25503391   PMID:25601754   PMID:25689150   PMID:26043688  
PMID:26061804   PMID:26496610   PMID:26673895   PMID:27301338   PMID:28103122   PMID:28514442   PMID:29053956   PMID:29128334   PMID:29138833   PMID:29142222   PMID:29300789   PMID:29712776  
PMID:29791506   PMID:29851226   PMID:30021884   PMID:30778222   PMID:30794914   PMID:30884312   PMID:31006538   PMID:31549407   PMID:32258130   PMID:32296183   PMID:32416067   PMID:32423001  
PMID:32597834   PMID:32814053   PMID:33024031   PMID:33087821   PMID:33226137   PMID:33382073   PMID:33446636   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34316702   PMID:34555423  
PMID:35271311   PMID:35831314   PMID:35987950   PMID:36114006   PMID:36129980   PMID:36215168   PMID:36576150   PMID:37232246   PMID:37252361   PMID:37689310   PMID:37774976   PMID:38943005  


Genomics

Comparative Map Data
ATG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383112,532,510 - 112,561,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3112,532,510 - 112,562,046 (-)EnsemblGRCh38hg38GRCh38
GRCh373112,251,357 - 112,280,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363113,734,049 - 113,763,175 (-)NCBINCBI36Build 36hg18NCBI36
Build 343113,734,049 - 113,763,175NCBI
Celera3110,660,041 - 110,689,158 (-)NCBICelera
Cytogenetic Map3q13.2NCBI
HuRef3109,635,431 - 109,664,875 (-)NCBIHuRef
CHM1_13112,215,286 - 112,244,741 (-)NCBICHM1_1
T2T-CHM13v2.03115,253,546 - 115,282,997 (-)NCBIT2T-CHM13v2.0
Atg3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391644,979,192 - 45,008,901 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1644,979,148 - 45,008,901 (+)EnsemblGRCm39 Ensembl
GRCm381645,158,829 - 45,188,538 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1645,158,785 - 45,188,538 (+)EnsemblGRCm38mm10GRCm38
MGSCv371645,158,942 - 45,188,651 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361645,078,161 - 45,107,870 (+)NCBIMGSCv36mm8
Celera1645,552,434 - 45,582,081 (+)NCBICelera
Cytogenetic Map16B5NCBI
cM Map1629.45NCBI
Atg3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81169,130,948 - 69,159,280 (-)NCBIGRCr8
mRatBN7.21155,624,914 - 55,653,249 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1155,624,917 - 55,653,224 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1164,438,596 - 64,466,930 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01157,100,453 - 57,128,787 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01156,170,970 - 56,199,226 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01160,585,192 - 60,613,706 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1160,585,171 - 60,613,718 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01164,687,322 - 64,715,836 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41157,162,205 - 57,190,568 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11157,219,793 - 57,248,157 (-)NCBI
Celera1155,191,074 - 55,219,238 (-)NCBICelera
Cytogenetic Map11q21NCBI
Atg3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542712,881,454 - 12,906,399 (-)NCBIChiLan1.0ChiLan1.0
ATG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22110,535,875 - 110,564,655 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13110,539,768 - 110,569,070 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03109,681,163 - 109,710,835 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13116,606,467 - 116,635,209 (-)NCBIpanpan1.1PanPan1.1panPan2
ATG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13317,046,951 - 17,073,203 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3317,046,973 - 17,073,150 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3317,150,094 - 17,176,355 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03317,290,643 - 17,316,985 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3317,290,665 - 17,316,925 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13317,095,504 - 17,121,791 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03317,142,968 - 17,169,265 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03317,692,507 - 17,718,820 (-)NCBIUU_Cfam_GSD_1.0
Atg3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602137,263,965 - 137,289,577 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936536232,192 - 257,954 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936536232,343 - 257,949 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13147,279,437 - 147,309,590 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113147,279,110 - 147,309,597 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213156,876,859 - 156,907,063 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATG3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12268,227,772 - 68,256,555 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2268,228,203 - 68,257,503 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604198,205,946 - 98,234,553 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atg3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473135,978,595 - 36,004,900 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATG3
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 copy number loss See cases [RCV000050766] Chr3:112168829..117393356 [GRCh38]
Chr3:111887676..117112203 [GRCh37]
Chr3:113370366..118594893 [NCBI36]
Chr3:3q13.2-13.31		 pathogenic
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 copy number loss See cases [RCV000051544] Chr3:108242572..116169331 [GRCh38]
Chr3:107961419..115888178 [GRCh37]
Chr3:109444109..117370868 [NCBI36]
Chr3:3q13.13-13.31		 pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 copy number loss See cases [RCV000051545] Chr3:112479482..115774102 [GRCh38]
Chr3:112198329..115492949 [GRCh37]
Chr3:113681019..116975639 [NCBI36]
Chr3:3q13.2-13.31		 pathogenic
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 copy number gain See cases [RCV000051722] Chr3:104621220..116093884 [GRCh38]
Chr3:104340064..115812731 [GRCh37]
Chr3:105822754..117295421 [NCBI36]
Chr3:3q13.11-13.31		 pathogenic
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 copy number loss See cases [RCV000135592] Chr3:112465096..115774102 [GRCh38]
Chr3:112183943..115492949 [GRCh37]
Chr3:113666633..116975639 [NCBI36]
Chr3:3q13.2-13.31		 likely pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31		 pathogenic|uncertain significance
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 copy number loss See cases [RCV000138434] Chr3:112465094..115774111 [GRCh38]
Chr3:112183941..115492958 [GRCh37]
Chr3:113666631..116975648 [NCBI36]
Chr3:3q13.2-13.31		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 copy number loss See cases [RCV000142219] Chr3:112425234..115795585 [GRCh38]
Chr3:112144081..115514432 [GRCh37]
Chr3:113626771..116997122 [NCBI36]
Chr3:3q13.2-13.31		 pathogenic
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33		 pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)x1 copy number loss See cases [RCV000446223] Chr3:112144081..115514432 [GRCh37]
Chr3:3q13.2-13.31		 pathogenic
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 copy number loss See cases [RCV000448410] Chr3:105094834..117441953 [GRCh37]
Chr3:3q13.11-13.32		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 copy number loss not provided [RCV000682294] Chr3:110645295..115103586 [GRCh37]
Chr3:3q13.13-13.31		 pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 copy number loss not provided [RCV000682296] Chr3:111894832..116930109 [GRCh37]
Chr3:3q13.2-13.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.2(chr3:112211278-112308287)x3 copy number gain not provided [RCV000742694] Chr3:112211278..112308287 [GRCh37]
Chr3:3q13.2		 benign
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 copy number loss not provided [RCV000856645] Chr3:112183943..115492949 [GRCh37]
Chr3:3q13.2-13.31		 pathogenic
GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3 copy number gain not provided [RCV000847080] Chr3:111929014..112773945 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3 copy number gain not provided [RCV000846844] Chr3:111929014..112773945 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.804G>C (p.Glu268Asp) single nucleotide variant not specified [RCV004319053] Chr3:112534328 [GRCh38]
Chr3:112253175 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 copy number gain not provided [RCV001259226] Chr3:112135341..115509260 [GRCh37]
Chr3:3q13.2-13.31		 pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432) copy number loss not specified [RCV002053367] Chr3:112144081..115514432 [GRCh37]
Chr3:3q13.2-13.31		 pathogenic
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) copy number loss Chromosome 3q13.31 deletion syndrome [RCV002280741] Chr3:106598767..115704696 [GRCh37]
Chr3:3q13.12-13.31		 pathogenic
GRCh37/hg19 3q13.2(chr3:111919475-112389338)x3 copy number gain not provided [RCV002474862] Chr3:111919475..112389338 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 copy number loss not provided [RCV002472579] Chr3:107059705..115005256 [GRCh37]
Chr3:3q13.12-13.31		 pathogenic
NM_022488.5(ATG3):c.284A>G (p.Glu95Gly) single nucleotide variant not specified [RCV004128590] Chr3:112548592 [GRCh38]
Chr3:112267439 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.193G>A (p.Ala65Thr) single nucleotide variant not specified [RCV004227490] Chr3:112550234 [GRCh38]
Chr3:112269081 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.303T>A (p.Asp101Glu) single nucleotide variant not specified [RCV004200748] Chr3:112548573 [GRCh38]
Chr3:112267420 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003222552] Chr3:110966195..115843176 [GRCh37]
Chr3:3q13.13-13.31		 pathogenic
NM_022488.5(ATG3):c.836A>C (p.Glu279Ala) single nucleotide variant not specified [RCV004250842] Chr3:112534296 [GRCh38]
Chr3:112253143 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_022488.5(ATG3):c.196T>C (p.Tyr66His) single nucleotide variant not specified [RCV004355832] Chr3:112550231 [GRCh38]
Chr3:112269078 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.157T>C (p.Trp53Arg) single nucleotide variant not specified [RCV004358347] Chr3:112553287 [GRCh38]
Chr3:112272134 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1 copy number loss not provided [RCV003485398] Chr3:110398276..113879363 [GRCh37]
Chr3:3q13.13-13.31		 uncertain significance
GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3 copy number gain not provided [RCV003484141] Chr3:111845309..112880225 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.286G>A (p.Ala96Thr) single nucleotide variant not specified [RCV004423382] Chr3:112548590 [GRCh38]
Chr3:112267437 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.769C>G (p.Pro257Ala) single nucleotide variant not specified [RCV004670330] Chr3:112536500 [GRCh38]
Chr3:112255347 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.508G>A (p.Glu170Lys) single nucleotide variant not specified [RCV004670338] Chr3:112538148 [GRCh38]
Chr3:112256995 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_022488.5(ATG3):c.250C>T (p.Arg84Trp) single nucleotide variant not specified [RCV004670341] Chr3:112548626 [GRCh38]
Chr3:112267473 [GRCh37]
Chr3:3q13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1185
Count of miRNA genes:715
Interacting mature miRNAs:815
Transcripts:ENST00000283290, ENST00000402314, ENST00000465980, ENST00000467275, ENST00000488910, ENST00000492886, ENST00000494571, ENST00000495756, ENST00000496423
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407124811GWAS773787_Hchildhood onset asthma QTL GWAS773787 (human)0.000002childhood onset asthma3112550440112550441Human

Markers in Region
WI-22015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373112,251,469 - 112,251,599UniSTSGRCh37
Build 363113,734,159 - 113,734,289RGDNCBI36
Celera3110,660,151 - 110,660,281RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,635,546 - 109,635,676UniSTS
GeneMap99-GB4 RH Map3403.19UniSTS
Whitehead-RH Map3496.6UniSTS
RH120928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373112,260,991 - 112,261,293UniSTSGRCh37
Build 363113,743,681 - 113,743,983RGDNCBI36
Celera3110,669,656 - 110,669,958RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,645,052 - 109,645,354UniSTS
TNG Radiation Hybrid Map333515.0UniSTS
GDB:372310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373112,277,934 - 112,278,058UniSTSGRCh37
Build 363113,760,624 - 113,760,748RGDNCBI36
Celera3110,686,607 - 110,686,731RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,661,999 - 109,662,123UniSTS
G20743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373112,251,433 - 112,251,579UniSTSGRCh37
Build 363113,734,123 - 113,734,269RGDNCBI36
Celera3110,660,115 - 110,660,261RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,635,510 - 109,635,656UniSTS
A006E19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373112,251,433 - 112,251,579UniSTSGRCh37
Build 363113,734,123 - 113,734,269RGDNCBI36
Celera3110,660,115 - 110,660,261RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,635,510 - 109,635,656UniSTS
TNG Radiation Hybrid Map333486.0UniSTS
GeneMap99-GB4 RH Map3403.87UniSTS
NCBI RH Map3900.4UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA448974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB079384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF202092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW408464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC311625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000283290   ⟹   ENSP00000283290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,532,510 - 112,561,962 (-)Ensembl
Ensembl Acc Id: ENST00000402314   ⟹   ENSP00000385943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,532,510 - 112,561,916 (-)Ensembl
Ensembl Acc Id: ENST00000465980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,543,995 - 112,561,633 (-)Ensembl
Ensembl Acc Id: ENST00000467275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,537,531 - 112,538,344 (-)Ensembl
Ensembl Acc Id: ENST00000488910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,558,138 - 112,561,857 (-)Ensembl
Ensembl Acc Id: ENST00000492886   ⟹   ENSP00000420378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,538,146 - 112,562,046 (-)Ensembl
Ensembl Acc Id: ENST00000494571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,532,522 - 112,536,767 (-)Ensembl
Ensembl Acc Id: ENST00000495756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,536,210 - 112,561,924 (-)Ensembl
Ensembl Acc Id: ENST00000496423   ⟹   ENSP00000420259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3112,537,735 - 112,561,652 (-)Ensembl
RefSeq Acc Id: NM_001278712   ⟹   NP_001265641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383112,532,510 - 112,561,962 (-)NCBI
HuRef3109,635,431 - 109,664,875 (-)NCBI
CHM1_13112,215,286 - 112,244,741 (-)NCBI
T2T-CHM13v2.03115,253,546 - 115,282,997 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022488   ⟹   NP_071933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383112,532,510 - 112,561,962 (-)NCBI
GRCh373112,251,354 - 112,280,810 (-)NCBI
Build 363113,734,049 - 113,763,175 (-)NCBI Archive
Celera3110,660,041 - 110,689,158 (-)RGD
HuRef3109,635,431 - 109,664,875 (-)NCBI
CHM1_13112,215,286 - 112,244,741 (-)NCBI
T2T-CHM13v2.03115,253,546 - 115,282,997 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513074   ⟹   XP_011511376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383112,532,510 - 112,561,962 (-)NCBI
Sequence:
RefSeq Acc Id: NP_071933   ⟸   NM_022488
- Peptide Label: isoform 1
- UniProtKB: Q9NT62 (UniProtKB/Swiss-Prot),   C9JNW8 (UniProtKB/Swiss-Prot),   Q6PKC5 (UniProtKB/Swiss-Prot),   Q9H6L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265641   ⟸   NM_001278712
- Peptide Label: isoform 2
- UniProtKB: Q9NT62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511376   ⟸   XM_011513074
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000420378   ⟸   ENST00000492886
Ensembl Acc Id: ENSP00000283290   ⟸   ENST00000283290
Ensembl Acc Id: ENSP00000385943   ⟸   ENST00000402314
Ensembl Acc Id: ENSP00000420259   ⟸   ENST00000496423

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NT62-F1-model_v2 AlphaFold Q9NT62 1-314 view protein structure

Promoters
RGD ID:6865246
Promoter ID:EPDNEW_H5788
Type:initiation region
Name:ATG3_1
Description:autophagy related 3
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
GRCh383112,561,935 - 112,561,995EPDNEW
RGD ID:6800936
Promoter ID:HG_KWN:45836
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000283290,   ENST00000402314,   NM_017945,   UC010HQE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363113,762,831 - 113,763,957 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20962 AgrOrtholog
COSMIC ATG3 COSMIC
Ensembl Genes ENSG00000144848 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000283290 ENTREZGENE
  ENST00000283290.10 UniProtKB/Swiss-Prot
  ENST00000402314 ENTREZGENE
  ENST00000402314.6 UniProtKB/Swiss-Prot
  ENST00000492886.5 UniProtKB/TrEMBL
  ENST00000496423.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1460.50 UniProtKB/Swiss-Prot
GTEx ENSG00000144848 GTEx
HGNC ID HGNC:20962 ENTREZGENE
Human Proteome Map ATG3 Human Proteome Map
InterPro Autophagy-rel_prot_3 UniProtKB/Swiss-Prot
KEGG Report hsa:64422 UniProtKB/Swiss-Prot
NCBI Gene 64422 ENTREZGENE
OMIM 609606 OMIM
PANTHER PTHR12866 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-LIKE-CONJUGATING ENZYME ATG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Autophagy_act_C UniProtKB/Swiss-Prot
PharmGKB PA134883444 PharmGKB
UniProt A0AAA9XEB5_HUMAN UniProtKB/TrEMBL
  ATG3_HUMAN UniProtKB/Swiss-Prot
  C9JNW8 ENTREZGENE
  F8WDI0_HUMAN UniProtKB/TrEMBL
  Q6PKC5 ENTREZGENE
  Q9H6L9 ENTREZGENE
  Q9NT62 ENTREZGENE
UniProt Secondary C9JNW8 UniProtKB/Swiss-Prot
  Q6PKC5 UniProtKB/Swiss-Prot
  Q9H6L9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-06-12 ATG3  autophagy related 3  ATG3  ATG3 autophagy related 3 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED