ABCE1 (ATP binding cassette subfamily E member 1) - Rat Genome Database

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Gene: ABCE1 (ATP binding cassette subfamily E member 1) Homo sapiens
Analyze
Symbol: ABCE1
Name: ATP binding cassette subfamily E member 1
RGD ID: 1313249
HGNC Page HGNC:69
Description: Enables endoribonuclease inhibitor activity. Involved in negative regulation of endoribonuclease activity. Located in cytosol and mitochondrion. Implicated in human immunodeficiency virus infectious disease. Biomarker of breast carcinoma; hepatocellular carcinoma; and lung adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2'-5'-oligoadenylate-binding protein; ABC38; ATP-binding cassette sub-family E member 1; ATP-binding cassette, sub-family E (OABP), member 1; huHP68; OABP; ribonuclease 4 inhibitor; ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor; RLI; RLI1; RNase L inhibitor; RNase L inhibitor 1; RNASEL1; RNASELI; RNS4I
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC006026.1   LOC647150  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384145,098,311 - 145,129,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4145,098,288 - 145,129,524 (+)EnsemblGRCh38hg38GRCh38
GRCh374146,019,463 - 146,050,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364146,238,606 - 146,270,126 (+)NCBINCBI36Build 36hg18NCBI36
Build 344146,377,090 - 146,407,936NCBI
Celera4143,346,498 - 143,378,018 (+)NCBICelera
Cytogenetic Map4q31.21NCBI
HuRef4141,750,477 - 141,781,999 (+)NCBIHuRef
CHM1_14145,995,426 - 146,026,945 (+)NCBICHM1_1
T2T-CHM13v2.04148,415,703 - 148,446,916 (+)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
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clozapine  (EXP)
coumestrol  (EXP)
cyclosporin A  (ISO)
decabromodiphenyl ether  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
pinosylvin  (EXP)
potassium chromate  (EXP)
propiconazole  (ISO)
silicon dioxide  (EXP)
succimer  (EXP,ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiophenes  (EXP)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA,TAS)
membrane  (HDA)
mitochondrial matrix  (TAS)
mitochondrion  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Adenosine triphosphate-binding cassette transporter genes up-regulation in untreated hepatocellular carcinoma is mediated by cellular microRNAs. Borel F, etal., Hepatology. 2012 Mar;55(3):821-32. doi: 10.1002/hep.24682. Epub 2012 Jan 13.
2. An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1. Crawford DC, etal., Genes Immun. 2009 Dec;10(8):715-21. doi: 10.1038/gene.2009.57. Epub 2009 Aug 6.
3. Structural view on recycling of archaeal and eukaryotic ribosomes after canonical termination and ribosome rescue. Franckenberg S, etal., Curr Opin Struct Biol. 2012 Dec;22(6):786-96. doi: 10.1016/j.sbi.2012.08.002. Epub 2012 Sep 29.
4. The expression profile of ATP-binding cassette transporter genes in breast carcinoma. Hlavac V, etal., Pharmacogenomics. 2013 Apr;14(5):515-29. doi: 10.2217/pgs.13.26.
5. The role of ABC transporters in progression and clinical outcome of colorectal cancer. Hlavata I, etal., Mutagenesis. 2012 Mar;27(2):187-96. doi: 10.1093/mutage/ger075.
6. Rustless translation. Hopfner KP, Biol Chem. 2012 Oct;393(10):1079-88. doi: 10.1515/hsz-2012-0196.
7. [Expression and clinical significance of ABCE1 in human lung adenocarcinoma]. Liu DZ, etal., Zhonghua Zhong Liu Za Zhi. 2008 Apr;30(4):296-7.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7539425   PMID:8641422   PMID:8838820   PMID:9660177   PMID:9847332   PMID:9877446   PMID:11585831   PMID:11780123   PMID:12477932   PMID:12578357   PMID:12600646   PMID:14702039  
PMID:14747530   PMID:15107989   PMID:15489334   PMID:15809757   PMID:16275648   PMID:16344560   PMID:17222823   PMID:17233757   PMID:18006034   PMID:18189233   PMID:19020832   PMID:19343046  
PMID:19615732   PMID:19946888   PMID:20122402   PMID:20372810   PMID:21145461   PMID:21448132   PMID:21543480   PMID:21654808   PMID:21873635   PMID:22004035   PMID:22267055   PMID:22268729  
PMID:22586326   PMID:22623428   PMID:22678362   PMID:22851315   PMID:22863883   PMID:23008114   PMID:23125841   PMID:23266104   PMID:23305486   PMID:23455922   PMID:23891004   PMID:24244333  
PMID:24457600   PMID:24551278   PMID:24623418   PMID:24778252   PMID:25066606   PMID:25337191   PMID:25437307   PMID:25659154   PMID:25744244   PMID:25749978   PMID:25815591   PMID:25921289  
PMID:25944354   PMID:25963833   PMID:26344197   PMID:26496610   PMID:26600528   PMID:26617714   PMID:26638075   PMID:26673895   PMID:26733164   PMID:26972000   PMID:26985706   PMID:27314749  
PMID:27375898   PMID:27681415   PMID:27684187   PMID:28380382   PMID:28675297   PMID:28700943   PMID:29128334   PMID:29180628   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29676528  
PMID:29861391   PMID:29955894   PMID:30097533   PMID:30196744   PMID:30442766   PMID:30455394   PMID:30463901   PMID:30471916   PMID:30575818   PMID:30619736   PMID:30711629   PMID:30737378  
PMID:30940648   PMID:30948266   PMID:30979931   PMID:31006538   PMID:31088929   PMID:31091453   PMID:31182584   PMID:31239290   PMID:31280863   PMID:31665102   PMID:31841188   PMID:31871319  
PMID:31980649   PMID:32033097   PMID:32129710   PMID:32296183   PMID:32416067   PMID:32651259   PMID:32668236   PMID:32680882   PMID:32877691   PMID:32914432   PMID:32941650   PMID:32941674  
PMID:32945355   PMID:33022573   PMID:33289941   PMID:33567341   PMID:33670646   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34373451   PMID:34709727  
PMID:34732716   PMID:35008187   PMID:35032548   PMID:35271311   PMID:35509820   PMID:35562734   PMID:35563538   PMID:35831314  


Genomics

Comparative Map Data
ABCE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384145,098,311 - 145,129,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4145,098,288 - 145,129,524 (+)EnsemblGRCh38hg38GRCh38
GRCh374146,019,463 - 146,050,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364146,238,606 - 146,270,126 (+)NCBINCBI36Build 36hg18NCBI36
Build 344146,377,090 - 146,407,936NCBI
Celera4143,346,498 - 143,378,018 (+)NCBICelera
Cytogenetic Map4q31.21NCBI
HuRef4141,750,477 - 141,781,999 (+)NCBIHuRef
CHM1_14145,995,426 - 146,026,945 (+)NCBICHM1_1
T2T-CHM13v2.04148,415,703 - 148,446,916 (+)NCBIT2T-CHM13v2.0
Abce1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39880,410,071 - 80,438,369 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl880,410,091 - 80,438,369 (-)EnsemblGRCm39 Ensembl
GRCm38879,683,442 - 79,711,740 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl879,683,462 - 79,711,740 (-)EnsemblGRCm38mm10GRCm38
MGSCv37882,207,341 - 82,235,639 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36882,579,717 - 82,607,693 (-)NCBIMGSCv36mm8
Celera883,959,260 - 83,987,564 (-)NCBICelera
Cytogenetic Map8C1NCBI
Abce1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21928,205,566 - 28,230,489 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1928,205,555 - 28,230,489 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1935,065,938 - 35,090,817 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01935,720,012 - 35,744,891 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01937,954,884 - 37,979,761 (+)NCBIRnor_WKY
Rnor_6.01931,867,960 - 31,892,863 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1931,867,981 - 31,892,863 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01942,771,943 - 42,796,838 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41930,093,741 - 30,118,625 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11930,098,545 - 30,123,448 (+)NCBI
Celera1927,713,656 - 27,738,540 (+)NCBICelera
Cytogenetic Map19q11NCBI
Abce1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554281,029,399 - 1,058,902 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554281,029,909 - 1,058,902 (+)NCBIChiLan1.0ChiLan1.0
ABCE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14149,105,912 - 149,137,028 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4149,105,912 - 149,137,028 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04137,445,210 - 137,476,309 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ABCE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11543,781,838 - 43,813,529 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1543,781,885 - 43,811,883 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1544,173,958 - 44,205,596 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01544,450,427 - 44,482,362 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1544,450,466 - 44,486,656 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11543,723,783 - 43,755,384 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01543,809,854 - 43,842,008 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01544,074,527 - 44,106,452 (+)NCBIUU_Cfam_GSD_1.0
Abce1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530146,518,167 - 46,547,561 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365353,956,490 - 3,985,002 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl883,299,322 - 83,353,109 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1883,302,055 - 83,353,208 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2888,572,102 - 88,623,679 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1791,673,359 - 91,704,774 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603771,313,759 - 71,345,010 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abce1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248534,065,206 - 4,085,777 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248534,059,271 - 4,087,313 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
GDB:451571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374146,049,017 - 146,049,119UniSTSGRCh37
GRCh371192,215,443 - 192,215,545UniSTSGRCh37
Build 361190,482,066 - 190,482,168RGDNCBI36
Celera4143,376,359 - 143,376,461UniSTS
Celera1165,325,232 - 165,325,334RGD
Cytogenetic Map4q31UniSTS
Cytogenetic Map1q31.2UniSTS
HuRef4141,780,340 - 141,780,442UniSTS
HuRef1163,452,024 - 163,452,126UniSTS
RH70908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37723,600,947 - 23,601,115UniSTSGRCh37
GRCh374146,049,654 - 146,049,823UniSTSGRCh37
Build 364146,269,104 - 146,269,273RGDNCBI36
Celera4143,376,996 - 143,377,165RGD
Celera723,589,701 - 23,589,869UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map7p15.3UniSTS
HuRef723,486,097 - 23,486,265UniSTS
HuRef4141,780,977 - 141,781,146UniSTS
CRA_TCAGchr7v2723,652,769 - 23,652,937UniSTS
GeneMap99-GB4 RH Map4623.18UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
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Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
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Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
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Cytogenetic Map11p13UniSTS
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Cytogenetic Map1q24UniSTS
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Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
RH104489  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q31UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
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Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
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Cytogenetic Map12q13.13UniSTS
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Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
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Cytogenetic Map10q23-q24UniSTS
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Cytogenetic Map1p36.21UniSTS
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Cytogenetic Map4p14UniSTS
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Cytogenetic Map13q12UniSTS
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Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
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Cytogenetic Map19p13UniSTS
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Cytogenetic Map2p13.1UniSTS
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Cytogenetic Map12p13.32UniSTS
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Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
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Cytogenetic MapXq26.3UniSTS
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Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
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Cytogenetic Map17p13UniSTS
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Cytogenetic Map4q28UniSTS
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Cytogenetic Map10q22UniSTS
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Cytogenetic Map19p12UniSTS
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Cytogenetic Map14q12UniSTS
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Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
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Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
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Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
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Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
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Cytogenetic Map12q23.2UniSTS
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Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
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Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
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Cytogenetic Map3p25.3UniSTS
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Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
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Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
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Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
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Cytogenetic Map1p34-p33UniSTS
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Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
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Cytogenetic Map2p16.1UniSTS
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Cytogenetic Map1p36.22UniSTS
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Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
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Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
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Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
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Cytogenetic Map6p25UniSTS
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Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
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Cytogenetic Map12q13.3UniSTS
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Cytogenetic Map17q25.3UniSTS
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Cytogenetic Map21p11.1UniSTS
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Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
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Cytogenetic Map2p14UniSTS
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Cytogenetic Map7q34UniSTS
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Cytogenetic Map11p15.3UniSTS
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Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
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Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
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Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
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Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
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Cytogenetic Map12p13.2UniSTS
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Cytogenetic Map10q26UniSTS
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Cytogenetic Map22q12.2UniSTS
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Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
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Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
SHGC-50255  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q31UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR203Ahsa-miR-203aMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19843643
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA19843643

Predicted Target Of
Summary Value
Count of predictions:1475
Count of miRNA genes:798
Interacting mature miRNAs:928
Transcripts:ENST00000296577, ENST00000502586, ENST00000502803, ENST00000504292, ENST00000504683, ENST00000506506, ENST00000507193, ENST00000509593, ENST00000510321, ENST00000515678
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.


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 2354 1984 1601 507 1226 349 4271 1892 3073 335 1445 1610 174 1 1203 2703 6 2
Low 85 990 125 117 708 116 86 305 661 84 15 3 1 1 85
Below cutoff 17 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ148409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296577   ⟹   ENSP00000296577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,098,311 - 145,129,524 (+)Ensembl
RefSeq Acc Id: ENST00000502586   ⟹   ENSP00000421250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,098,288 - 145,110,984 (+)Ensembl
RefSeq Acc Id: ENST00000502803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,098,311 - 145,123,305 (+)Ensembl
RefSeq Acc Id: ENST00000504292   ⟹   ENSP00000423415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,108,027 - 145,117,415 (+)Ensembl
RefSeq Acc Id: ENST00000504683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,122,869 - 145,127,643 (+)Ensembl
RefSeq Acc Id: ENST00000506506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,098,314 - 145,123,538 (+)Ensembl
RefSeq Acc Id: ENST00000507193   ⟹   ENSP00000422068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,098,311 - 145,127,573 (+)Ensembl
RefSeq Acc Id: ENST00000509593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,121,034 - 145,123,327 (+)Ensembl
RefSeq Acc Id: ENST00000510321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,121,320 - 145,123,931 (+)Ensembl
RefSeq Acc Id: ENST00000515678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4145,121,010 - 145,123,690 (+)Ensembl
RefSeq Acc Id: NM_001040876   ⟹   NP_001035809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384145,098,311 - 145,129,524 (+)NCBI
GRCh374146,019,156 - 146,050,676 (+)ENTREZGENE
Build 364146,238,606 - 146,270,126 (+)NCBI Archive
HuRef4141,750,477 - 141,781,999 (+)ENTREZGENE
CHM1_14145,995,426 - 146,026,945 (+)NCBI
T2T-CHM13v2.04148,415,703 - 148,446,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002940   ⟹   NP_002931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384145,098,311 - 145,129,524 (+)NCBI
GRCh374146,019,156 - 146,050,676 (+)ENTREZGENE
Build 364146,238,606 - 146,270,126 (+)NCBI Archive
HuRef4141,750,477 - 141,781,999 (+)ENTREZGENE
CHM1_14145,995,426 - 146,026,945 (+)NCBI
T2T-CHM13v2.04148,415,703 - 148,446,916 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002931   ⟸   NM_002940
- UniProtKB: Q99K66 (UniProtKB/Swiss-Prot),   P61221 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035809   ⟸   NM_001040876
- UniProtKB: Q99K66 (UniProtKB/Swiss-Prot),   P61221 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000421250   ⟸   ENST00000502586
RefSeq Acc Id: ENSP00000423415   ⟸   ENST00000504292
RefSeq Acc Id: ENSP00000296577   ⟸   ENST00000296577
RefSeq Acc Id: ENSP00000422068   ⟸   ENST00000507193
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61221-F1-model_v2 AlphaFold P61221 1-599 view protein structure

Promoters
RGD ID:6868594
Promoter ID:EPDNEW_H7461
Type:initiation region
Name:ABCE1_1
Description:ATP binding cassette subfamily E member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7459  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384145,098,314 - 145,098,374EPDNEW
RGD ID:6801991
Promoter ID:HG_KWN:49216
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:NM_001040876,   NM_002940,   UC010IOT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364146,238,346 - 146,238,887 (+)MPROMDB
RGD ID:6852288
Promoter ID:EP73950
Type:initiation region
Name:HS_ABCE1
Description:ATP-binding cassette, sub-family E (OABP), member 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 364146,238,900 - 146,238,960EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 copy number gain See cases [RCV000051787] Chr4:140876253..152186578 [GRCh38]
Chr4:141797407..153107730 [GRCh37]
Chr4:142016857..153327180 [NCBI36]
Chr4:4q31.21-31.3
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
NM_001040876.1(ABCE1):c.379C>A (p.Gln127Lys) single nucleotide variant Malignant melanoma [RCV000060925] Chr4:145109223 [GRCh38]
Chr4:146030375 [GRCh37]
Chr4:146249825 [NCBI36]
Chr4:4q31.21
not provided
NM_002940.3(ABCE1):c.708T>G (p.Asp236Glu) single nucleotide variant Malignant tumor of prostate [RCV000149039] Chr4:145111062 [GRCh38]
Chr4:146032214 [GRCh37]
Chr4:4q31.21
uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1 copy number loss See cases [RCV000136520] Chr4:143588844..148514027 [GRCh38]
Chr4:144509997..149435179 [GRCh37]
Chr4:144729447..149654629 [NCBI36]
Chr4:4q31.21-31.23
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1 copy number loss See cases [RCV000136753] Chr4:143738209..145870474 [GRCh38]
Chr4:144659362..146791626 [GRCh37]
Chr4:144878812..147011076 [NCBI36]
Chr4:4q31.21
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1 copy number loss See cases [RCV000142098] Chr4:144742003..148490914 [GRCh38]
Chr4:145663155..149412066 [GRCh37]
Chr4:145882605..149631516 [NCBI36]
Chr4:4q31.21-31.23
likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.21(chr4:146025645-146055117)x3 copy number gain not provided [RCV000744026] Chr4:146025645..146055117 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:146025645-146058155)x3 copy number gain not provided [RCV000744027] Chr4:146025645..146058155 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:146036388-146056824)x3 copy number gain not provided [RCV000744028] Chr4:146036388..146056824 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:146036388-146058155)x3 copy number gain not provided [RCV000744029] Chr4:146036388..146058155 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:146036388-146123564)x3 copy number gain not provided [RCV000744030] Chr4:146036388..146123564 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:146044393-146056320)x3 copy number gain not provided [RCV000744031] Chr4:146044393..146056320 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1 copy number loss not provided [RCV000848032] Chr4:140522019..146347867 [GRCh37]
Chr4:4q31.1-31.21
uncertain significance
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21
pathogenic
NM_002940.3(ABCE1):c.330A>T (p.Gly110=) single nucleotide variant not provided [RCV000969486] Chr4:145109174 [GRCh38]
Chr4:146030326 [GRCh37]
Chr4:4q31.21
benign
NM_002940.3(ABCE1):c.726G>A (p.Glu242=) single nucleotide variant not provided [RCV000886528] Chr4:145112254 [GRCh38]
Chr4:146033406 [GRCh37]
Chr4:4q31.21
benign
NM_002940.3(ABCE1):c.613+7G>T single nucleotide variant not provided [RCV000881202] Chr4:145110451 [GRCh38]
Chr4:146031603 [GRCh37]
Chr4:4q31.21
benign
NM_002940.3(ABCE1):c.1425C>T (p.Cys475=) single nucleotide variant not provided [RCV000948684] Chr4:145123265 [GRCh38]
Chr4:146044417 [GRCh37]
Chr4:4q31.21
benign
GRCh37/hg19 4q31.21(chr4:145601590-146031966)x3 copy number gain not provided [RCV001005603] Chr4:145601590..146031966 [GRCh37]
Chr4:4q31.21
uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:69 AgrOrtholog
COSMIC ABCE1 COSMIC
Ensembl Genes ENSG00000164163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296577 ENTREZGENE
  ENSP00000296577.4 UniProtKB/Swiss-Prot
  ENSP00000421250.1 UniProtKB/TrEMBL
  ENSP00000422068.1 UniProtKB/TrEMBL
  ENSP00000423415.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296577 ENTREZGENE
  ENST00000296577.9 UniProtKB/Swiss-Prot
  ENST00000502586.5 UniProtKB/TrEMBL
  ENST00000504292.1 UniProtKB/TrEMBL
  ENST00000507193.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164163 GTEx
HGNC ID HGNC:69 ENTREZGENE
Human Proteome Map ABCE1 Human Proteome Map
InterPro 4Fe4S_Fe-S-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4Fe4S_Fe_S_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLI1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLI_dom_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseL-inhib_metal-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6059 UniProtKB/Swiss-Prot
NCBI Gene 6059 ENTREZGENE
OMIM 601213 OMIM
PANTHER PTHR19248 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fer4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24404 PharmGKB
PRINTS ABCEFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 4FE4S_FER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4FE4S_FER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ABCE1_HUMAN UniProtKB/Swiss-Prot
  D6R9I9_HUMAN UniProtKB/TrEMBL
  D6RGF4_HUMAN UniProtKB/TrEMBL
  H0Y990_HUMAN UniProtKB/TrEMBL
  P61221 ENTREZGENE
  Q99K66 ENTREZGENE
UniProt Secondary O88793 UniProtKB/Swiss-Prot
  Q13181 UniProtKB/Swiss-Prot
  Q13864 UniProtKB/Swiss-Prot
  Q6NR76 UniProtKB/Swiss-Prot
  Q96AL0 UniProtKB/Swiss-Prot
  Q96B10 UniProtKB/Swiss-Prot
  Q99K66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCE1  ATP binding cassette subfamily E member 1    ATP-binding cassette, sub-family E (OABP), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 ABCE1  ATP-binding cassette, sub-family E (OABP), member 1  ABCE1  ATP-binding cassette, sub-family E (OABP), member 1  Symbol and/or name change 5135510 APPROVED