ECE1 (endothelin converting enzyme 1) - Rat Genome Database

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Gene: ECE1 (endothelin converting enzyme 1) Homo sapiens
Analyze
Symbol: ECE1
Name: endothelin converting enzyme 1
RGD ID: 731823
HGNC Page HGNC:3146
Description: Enables endopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in several processes, including endothelin maturation; peptide catabolic process; and positive regulation of receptor recycling. Located in cytoplasmic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Implicated in Alzheimer's disease; coronary artery disease; essential hypertension; and hypertension. Biomarker of congestive heart failure; coronary artery disease; dilated cardiomyopathy; and myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECE; ECE-1; endothelin-converting enzyme 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
GRCh38121,217,250 - 21,345,504 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,217,247 - 21,345,572 (-)EnsemblGRCh38hg38GRCh38
GRCh37121,543,743 - 21,671,997 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,418,939 - 21,489,494 (-)NCBINCBI36Build 36hg18NCBI36
Build 34121,291,657 - 21,362,213NCBI
Celera119,868,639 - 19,996,910 (-)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef119,789,436 - 19,917,657 (-)NCBIHuRef
CHM1_1121,655,386 - 21,783,707 (-)NCBICHM1_1
T2T-CHM13v2.0121,044,316 - 21,172,559 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methylphenanthrene  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
asbestos  (EXP)
atrazine  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP)
bisphenol A  (EXP,ISO)
cannabidiol  (EXP)
ceftriaxone  (ISO)
chlordecone  (ISO)
choline  (ISO)
cobalt dichloride  (EXP,ISO)
crocidolite asbestos  (ISO)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
fluoranthene  (EXP)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glycidol  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (ISO)
inulin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
L-mimosine  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury(1+)  (ISO)
metoprolol  (EXP)
nickel sulfate  (EXP)
oroxylin A  (ISO)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phosphoramidon  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
propiconazole  (ISO)
quartz  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenate  (ISO)
sorafenib  (ISO)
stilbene-4,4'-diol  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
torcetrapib  (EXP)
trans-stilbene-4,4'-diol  (EXP)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Renal endothelin-converting enzyme in rats with congestive heart failure. Abassi Z, etal., J Cardiovasc Pharmacol. 1998;31 Suppl 1:S31-4.
2. Endothelin converting-enzyme-1 mRNA expression in human cardiovascular disease. Bohnemeier H, etal., Clin Exp Hypertens. 1998 May;20(4):417-37.
3. Increased endothelin-1 reactivity and endothelial dysfunction in carotid arteries from rats with hyperhomocysteinemia. de Andrade CR, etal., Br J Pharmacol. 2009 Jun;157(4):568-80. Epub 2009 Apr 9.
4. Selective upregulation of endothelin converting enzyme-1a in the human failing heart. Ergul A, etal., J Card Fail. 2000 Dec;6(4):314-20.
5. Enhanced expression of renal endothelin-converting enzyme-1 and endothelin-A-receptor mRNA in rats with interstitial fibrosis following ureter ligation. Feldman DL, etal., J Cardiovasc Pharmacol. 2000 Nov;36(5 Suppl 1):S255-9.
6. Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study. Funalot B, etal., J Hypertens. 2004 Apr;22(4):739-43.
7. Endothelin-converting enzyme-1 is expressed in human cerebral cortex and protects against Alzheimer's disease. Funalot B, etal., Mol Psychiatry. 2004 Dec;9(12):1122-8, 1059.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Up-regulation of endothelin-converting-enzyme mRNA expression following cardioplegic arrest. Goodwin AT, etal., Clin Sci (Lond). 2002 Aug;103 Suppl 48:206S-209S.
10. Endothelin-converting enzyme-1-mediated signaling in adult rat ventricular myocyte contractility and apoptosis during sepsis. Gupta A, etal., J Mol Cell Cardiol. 2005 Mar;38(3):527-37.
11. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Hofstra RM, etal., Am J Hum Genet 1999 Jan;64(1):304-8.
12. Increased renal medullary endothelin-1 synthesis in prehypertensive DOCA- and salt-treated rats. Hsieh TJ, etal., Am J Physiol Renal Physiol. 2000 Jul;279(1):F112-21.
13. Regulation of endothelin-converting enzyme 1 in nephrotic syndrome in rats. Ikebe M, etal., Nephron Exp Nephrol. 2003;94(4):e137-45.
14. Expression and localization of human endothelin-converting enzyme-1 isoforms in symptomatic atherosclerotic disease and saphenous vein. Jackson CD, etal., Exp Biol Med (Maywood). 2006 Jun;231(6):794-801.
15. Diabetes and radiocontrast media increase endothelin converting enzyme-1 in the kidney. Khamaisi M, etal., Kidney Int. 2008 Jul;74(1):91-100. doi: 10.1038/ki.2008.112. Epub 2008 Apr 2.
16. Prophylactic use of melatonin protects against focal cerebral ischemia in mice: role of endothelin converting enzyme-1. Kilic E, etal., J Pineal Res. 2004 Nov;37(4):247-51.
17. Attenuation of SAH-induced cerebral vasospasm by a selective ECE inhibitor. Kwan AL, etal., Neuroreport. 2002 Feb 11;13(2):197-9.
18. Protective effect of SM-19712, a novel and potent endothelin converting enzyme inhibitor, on ischemic acute renal failure in rats. Matsumura Y, etal., Jpn J Pharmacol. 2000 Sep;84(1):16-24.
19. Endothelin-converting enzyme expression in the rat vascular injury model and human coronary atherosclerosis. Minamino T, etal., Circulation. 1997 Jan 7;95(1):221-30.
20. Increased immunoreactivities against endothelin-converting enzyme-1 and monocyte chemotactic protein-1 in hepatic stellate cells of rat fibrous liver induced by thioacetamide. Nagata T, etal., Med Mol Morphol. 2005 Sep;38(3):161-72.
21. Intranephron distribution and regulation of endothelin-converting enzyme-1 in cyclosporin A-induced acute renal failure in rats. Nakayama Y, etal., J Am Soc Nephrol. 1999 Mar;10(3):562-71.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Endothelin-converting enzyme inhibition in the rat model of acute heart failure: heart function and neurohormonal activation. Rufanova VA, etal., Exp Biol Med (Maywood). 2009 Oct;234(10):1201-11. doi: 10.3181/0902-RM-62. Epub 2009 Jul 13.
27. Tissue endothelin-converting enzyme activity correlates with cardiovascular risk factors in coronary artery disease. Ruschitzka F, etal., Circulation. 2000 Sep 5;102(10):1086-92.
28. Cloning and functional expression of endothelin-converting enzyme from rat endothelial cells. Shimada K, etal., J Biol Chem 1994 Jul 15;269(28):18275-8.
29. [Chronic theatment with an endothelin-converting enzyme inhibitor reduces the development of hypoxia-induced pulmonary hypertension in rat]. Simonova AI, etal., Ross Fiziol Zh Im I M Sechenova. 2008 Jul;94(7):777-84.
30. Inhibition of endothelin-converting enzyme attenuates transplant vasculopathy and rejection in rat cardiac allografts. Simonson MS, etal., Transplantation. 1999 Jun 27;67(12):1542-7.
31. Rosmarinic acid administration attenuates diabetes-induced vascular dysfunction of the rat aorta. Sotnikova R, etal., J Pharm Pharmacol. 2013 May;65(5):713-23. doi: 10.1111/jphp.12037. Epub 2013 Feb 27.
32. Role of endogenous endothelin-1 in post-ischemic cardiac dysfunction and norepinephrine overflow in rat hearts. Tawa M, etal., Eur J Pharmacol. 2008 Sep 4;591(1-3):182-8. Epub 2008 Jun 14.
33. Expression of endothelin-1, endothelin-3, endothelin-converting enzyme-1, and endothelin-A and endothelin-B receptor mRNA after angioplasty-induced neointimal formation in the rat. Wang X, etal., Circ Res. 1996 Feb;78(2):322-8.
34. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Yanagisawa H, etal., Development 1998 Mar;125(5):825-36.
35. Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. Yanagisawa H, etal., J Clin Invest 1998 Jul 1;102(1):22-33.
36. Alteration of endothelin system and calcium handling protein in left ventricles following drug treatment in dilated cardiomyopathy rats. Zhang JN, etal., Acta Pharmacol Sin. 2003 Nov;24(11):1099-102.
Additional References at PubMed
PMID:7695628   PMID:7805846   PMID:7864876   PMID:8062389   PMID:8530372   PMID:8641140   PMID:8889548   PMID:9253714   PMID:9396733   PMID:9449382   PMID:9595387   PMID:9710124  
PMID:10438732   PMID:10491078   PMID:10620363   PMID:10833511   PMID:11723113   PMID:11906289   PMID:12011762   PMID:12244060   PMID:12393864   PMID:12464614   PMID:12477932   PMID:12609744  
PMID:14597855   PMID:15010576   PMID:15146197   PMID:15240857   PMID:15342556   PMID:15489334   PMID:15665524   PMID:16023075   PMID:16234608   PMID:16263699   PMID:16289162   PMID:16344560  
PMID:16526315   PMID:16531800   PMID:16567585   PMID:16698938   PMID:16710414   PMID:16986361   PMID:17081983   PMID:17264805   PMID:17295044   PMID:17545092   PMID:17592116   PMID:17618613  
PMID:17664854   PMID:17701914   PMID:17712175   PMID:17761169   PMID:17897319   PMID:17977716   PMID:18029348   PMID:18039931   PMID:18334739   PMID:18660489   PMID:18781169   PMID:18974277  
PMID:18992253   PMID:19056867   PMID:19222484   PMID:19289136   PMID:19531493   PMID:19889475   PMID:19913121   PMID:19946888   PMID:20037208   PMID:20301612   PMID:20345647   PMID:20346360  
PMID:20485444   PMID:20538960   PMID:20558134   PMID:20628086   PMID:20663017   PMID:20725143   PMID:21554123   PMID:21777246   PMID:21851036   PMID:21873635   PMID:22027013   PMID:22199357  
PMID:22268729   PMID:22322595   PMID:22416137   PMID:22693153   PMID:22728136   PMID:22731820   PMID:22810586   PMID:22939629   PMID:22972025   PMID:23022525   PMID:23175834   PMID:23251661  
PMID:23283972   PMID:23360525   PMID:23816989   PMID:23863409   PMID:24000822   PMID:24026618   PMID:24497914   PMID:24595843   PMID:24755837   PMID:24812665   PMID:24898255   PMID:25179465  
PMID:25226840   PMID:25268585   PMID:25416956   PMID:25469848   PMID:25501500   PMID:26167880   PMID:26186194   PMID:26514267   PMID:26543229   PMID:26806547   PMID:27036146   PMID:28171705  
PMID:28514442   PMID:28718761   PMID:29507755   PMID:29568061   PMID:29978582   PMID:30194290   PMID:30626614   PMID:30926432   PMID:31777301   PMID:31788944   PMID:31871319   PMID:32107880  
PMID:32170981   PMID:32278308   PMID:32296183   PMID:32409323   PMID:33545068   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34709727   PMID:34857952   PMID:35271311  
PMID:35337019   PMID:35645613   PMID:35696571   PMID:35748872   PMID:36215168   PMID:36635757   PMID:37232246   PMID:37271044   PMID:37559140   PMID:37616343  


Genomics

Comparative Map Data
ECE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,217,250 - 21,345,504 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,217,247 - 21,345,572 (-)EnsemblGRCh38hg38GRCh38
GRCh37121,543,743 - 21,671,997 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,418,939 - 21,489,494 (-)NCBINCBI36Build 36hg18NCBI36
Build 34121,291,657 - 21,362,213NCBI
Celera119,868,639 - 19,996,910 (-)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef119,789,436 - 19,917,657 (-)NCBIHuRef
CHM1_1121,655,386 - 21,783,707 (-)NCBICHM1_1
T2T-CHM13v2.0121,044,316 - 21,172,559 (-)NCBIT2T-CHM13v2.0
Ece1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394137,589,548 - 137,692,540 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4137,589,548 - 137,692,540 (+)EnsemblGRCm39 Ensembl
GRCm384137,862,237 - 137,965,229 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4137,862,237 - 137,965,229 (+)EnsemblGRCm38mm10GRCm38
MGSCv374137,418,152 - 137,521,144 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364137,134,373 - 137,237,305 (+)NCBIMGSCv36mm8
Celera4136,126,032 - 136,196,612 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map470.02NCBI
Ece1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85155,361,031 - 155,462,723 (+)NCBIGRCr8
mRatBN7.25150,077,679 - 150,179,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5150,077,644 - 150,179,371 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5152,773,465 - 152,873,955 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05154,547,754 - 154,648,239 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05154,529,783 - 154,630,269 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05156,215,469 - 156,318,652 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5156,215,417 - 156,318,671 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,968,604 - 160,075,347 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45156,635,656 - 156,735,783 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15156,645,659 - 156,747,472 (+)NCBI
Celera5148,472,086 - 148,571,980 (+)NCBICelera
Cytogenetic Map5q36NCBI
Ece1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554521,651,316 - 1,751,489 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554521,653,783 - 1,704,619 (-)NCBIChiLan1.0ChiLan1.0
ECE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21205,783,201 - 205,910,343 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11204,895,167 - 205,022,339 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0120,166,019 - 20,290,803 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1121,206,199 - 21,278,909 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl121,206,199 - 21,278,909 (-)Ensemblpanpan1.1panPan2
ECE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1277,732,645 - 77,793,950 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl277,678,686 - 77,792,114 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,191,949 - 74,307,168 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0278,248,131 - 78,362,573 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl278,248,163 - 78,362,572 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,065,942 - 75,181,163 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,130,913 - 76,192,255 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,133,728 - 77,195,129 (+)NCBIUU_Cfam_GSD_1.0
Ece1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505841,209,358 - 41,258,192 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364747,034,134 - 7,083,005 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364747,034,134 - 7,083,005 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ECE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl679,408,326 - 79,466,152 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1679,408,322 - 79,465,827 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2673,659,673 - 73,781,925 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ECE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120111,212,567 - 111,342,755 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20111,212,594 - 111,342,821 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660334,933,846 - 5,063,084 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ece1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247646,221,867 - 6,318,477 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247646,222,301 - 6,318,423 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ECE1
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001113348.2(ECE1):c.4-596C>A single nucleotide variant Hypertension, essential, susceptibility to [RCV000009705] Chr1:21290752 [GRCh38]
Chr1:21617245 [GRCh37]
Chr1:1p36.12
risk factor
NM_001113348.2(ECE1):c.4-1097T>G single nucleotide variant Hypertension, essential, susceptibility to [RCV000009706] Chr1:21291253 [GRCh38]
Chr1:21617746 [GRCh37]
Chr1:1p36.12
risk factor
NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys) single nucleotide variant Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV000009704] Chr1:21220008 [GRCh38]
Chr1:21546501 [GRCh37]
Chr1:1p36.12
pathogenic
NM_001113348.1(ECE1):c.3+14170C>T single nucleotide variant Lung cancer [RCV000090476] Chr1:21331206 [GRCh38]
Chr1:21657699 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh38/hg38 1p36.12(chr1:21341595-21861116)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|See cases [RCV000051800] Chr1:21341595..21861116 [GRCh38]
Chr1:21668088..22187609 [GRCh37]
Chr1:21540675..22060196 [NCBI36]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1 copy number loss See cases [RCV000053796] Chr1:20482657..21271999 [GRCh38]
Chr1:20809150..21598492 [GRCh37]
Chr1:20681737..21471079 [NCBI36]
Chr1:1p36.12
pathogenic
NM_001113348.1(ECE1):c.700A>T (p.Ser234Cys) single nucleotide variant Malignant melanoma [RCV000060085] Chr1:21258707 [GRCh38]
Chr1:21585200 [GRCh37]
Chr1:21457787 [NCBI36]
Chr1:1p36.12
not provided
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_001397.3(ECE1):c.1278+7C>T single nucleotide variant not specified [RCV000253604] Chr1:21244982 [GRCh38]
Chr1:21571475 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1164-5C>T single nucleotide variant not specified [RCV000248868] Chr1:21245108 [GRCh38]
Chr1:21571601 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1155C>T (p.Thr385=) single nucleotide variant not specified [RCV000244888] Chr1:21247229 [GRCh38]
Chr1:21573722 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1641T>C (p.Asp547=) single nucleotide variant not provided [RCV001610617]|not specified [RCV000242717] Chr1:21233587 [GRCh38]
Chr1:21560080 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1546C>T (p.Leu516=) single nucleotide variant not provided [RCV000906948]|not specified [RCV000250169] Chr1:21235870 [GRCh38]
Chr1:21562363 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) single nucleotide variant not provided [RCV000514478]|not specified [RCV000245427] Chr1:21238138 [GRCh38]
Chr1:21564631 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_001397.3(ECE1):c.1782-4C>A single nucleotide variant not specified [RCV000250654] Chr1:21227230 [GRCh38]
Chr1:21553723 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1022C>T (p.Thr341Ile) single nucleotide variant not specified [RCV000253112] Chr1:21247362 [GRCh38]
Chr1:21573855 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1671-21_1671-20delinsGG indel not specified [RCV000245899] Chr1:21228061..21228062 [GRCh38]
Chr1:21554554..21554555 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1020+15G>A single nucleotide variant not provided [RCV001618418]|not specified [RCV000248327] Chr1:21255932 [GRCh38]
Chr1:21582425 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) single nucleotide variant Aganglionic megacolon [RCV000736044] Chr1:21225411 [GRCh38]
Chr1:21551904 [GRCh37]
Chr1:1p36.12
likely pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001397.3(ECE1):c.130G>C (p.Gly44Arg) single nucleotide variant Inborn genetic diseases [RCV003281183] Chr1:21290078 [GRCh38]
Chr1:21616571 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1112A>G (p.Asp371Gly) single nucleotide variant Inborn genetic diseases [RCV003275292] Chr1:21247272 [GRCh38]
Chr1:21573765 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) single nucleotide variant Aganglionic megacolon [RCV000736043] Chr1:21247317 [GRCh38]
Chr1:21573810 [GRCh37]
Chr1:1p36.12
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.12(chr1:21627370-21785981)x3 copy number gain not provided [RCV000748939] Chr1:21627370..21785981 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1966G>A (p.Gly656Arg) single nucleotide variant Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001647332] Chr1:21225324 [GRCh38]
Chr1:21551817 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_001397.3(ECE1):c.131G>A (p.Gly44Asp) single nucleotide variant Inborn genetic diseases [RCV003245472] Chr1:21290077 [GRCh38]
Chr1:21616570 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.828+8T>C single nucleotide variant not provided [RCV000968820] Chr1:21257517 [GRCh38]
Chr1:21584010 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.2187C>T (p.Thr729=) single nucleotide variant not provided [RCV000927743] Chr1:21220081 [GRCh38]
Chr1:21546574 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1884A>C (p.Pro628=) single nucleotide variant not provided [RCV000968973] Chr1:21225406 [GRCh38]
Chr1:21551899 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.504G>A (p.Thr168=) single nucleotide variant not provided [RCV000882996] Chr1:21260382 [GRCh38]
Chr1:21586875 [GRCh37]
Chr1:1p36.12
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_001397.3(ECE1):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV000898333] Chr1:21257546 [GRCh38]
Chr1:21584039 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1190A>G (p.Asn397Ser) single nucleotide variant not provided [RCV000938857] Chr1:21245077 [GRCh38]
Chr1:21571570 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1866G>A (p.Lys622=) single nucleotide variant not provided [RCV000942260] Chr1:21225424 [GRCh38]
Chr1:21551917 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1911C>G (p.Ala637=) single nucleotide variant not provided [RCV000925908] Chr1:21225379 [GRCh38]
Chr1:21551872 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.138+7G>A single nucleotide variant not provided [RCV000895228] Chr1:21290063 [GRCh38]
Chr1:21616556 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.828+9G>A single nucleotide variant not provided [RCV000907681] Chr1:21257516 [GRCh38]
Chr1:21584009 [GRCh37]
Chr1:1p36.12
likely benign
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12
uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
NM_001397.3(ECE1):c.1566C>T (p.Asp522=) single nucleotide variant not provided [RCV000902602] Chr1:21235850 [GRCh38]
Chr1:21562343 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.517G>A (p.Glu173Lys) single nucleotide variant not provided [RCV000911051] Chr1:21260369 [GRCh38]
Chr1:21586862 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.12(chr1:21616227-21617357) copy number loss Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001195141] Chr1:21616227..21617357 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1163+9A>C single nucleotide variant not provided [RCV000890426] Chr1:21247212 [GRCh38]
Chr1:21573705 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.729C>T (p.Ala243=) single nucleotide variant not provided [RCV000911355] Chr1:21258726 [GRCh38]
Chr1:21585219 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1710G>A (p.Ser570=) single nucleotide variant not provided [RCV000889615] Chr1:21228002 [GRCh38]
Chr1:21554495 [GRCh37]
Chr1:1p36.12
benign
NM_001397.3(ECE1):c.1686G>A (p.Pro562=) single nucleotide variant not provided [RCV000912519] Chr1:21228026 [GRCh38]
Chr1:21554519 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 copy number loss not provided [RCV001259567] Chr1:17284906..21778495 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
NM_001397.3(ECE1):c.1960G>A (p.Val654Met) single nucleotide variant not provided [RCV001466250] Chr1:21225330 [GRCh38]
Chr1:21551823 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.1072C>A (p.Pro358Thr) single nucleotide variant not provided [RCV001726740] Chr1:21247312 [GRCh38]
Chr1:21573805 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.877G>A (p.Gly293Ser) single nucleotide variant Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001839276] Chr1:21256090 [GRCh38]
Chr1:21582583 [GRCh37]
Chr1:1p36.12
uncertain significance
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_001397.3(ECE1):c.1093G>A (p.Glu365Lys) single nucleotide variant Inborn genetic diseases [RCV002902465] Chr1:21247291 [GRCh38]
Chr1:21573784 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.548G>A (p.Arg183His) single nucleotide variant Inborn genetic diseases [RCV002753098] Chr1:21260338 [GRCh38]
Chr1:21586831 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1753G>C (p.Ala585Pro) single nucleotide variant Inborn genetic diseases [RCV002793713] Chr1:21227959 [GRCh38]
Chr1:21554452 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.43G>A (p.Ala15Thr) single nucleotide variant Inborn genetic diseases [RCV002783725] Chr1:21290372 [GRCh38]
Chr1:21616865 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.104T>C (p.Leu35Pro) single nucleotide variant Inborn genetic diseases [RCV002738796] Chr1:21290104 [GRCh38]
Chr1:21616597 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.157C>G (p.Arg53Gly) single nucleotide variant Inborn genetic diseases [RCV002697055] Chr1:21279314 [GRCh38]
Chr1:21605807 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.70G>A (p.Ala24Thr) single nucleotide variant Inborn genetic diseases [RCV002930523] Chr1:21290138 [GRCh38]
Chr1:21616631 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.2164A>G (p.Ser722Gly) single nucleotide variant Inborn genetic diseases [RCV002787352] Chr1:21220104 [GRCh38]
Chr1:21546597 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1864A>C (p.Lys622Gln) single nucleotide variant Inborn genetic diseases [RCV002719438] Chr1:21225426 [GRCh38]
Chr1:21551919 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.19C>T (p.Pro7Ser) single nucleotide variant Inborn genetic diseases [RCV002769881] Chr1:21290396 [GRCh38]
Chr1:21616889 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.683C>T (p.Thr228Ile) single nucleotide variant Inborn genetic diseases [RCV002748013] Chr1:21258772 [GRCh38]
Chr1:21585265 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1345C>G (p.Pro449Ala) single nucleotide variant Inborn genetic diseases [RCV002655260] Chr1:21238178 [GRCh38]
Chr1:21564671 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.935C>T (p.Thr312Met) single nucleotide variant Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV003146997] Chr1:21256032 [GRCh38]
Chr1:21582525 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.217G>A (p.Val73Met) single nucleotide variant Inborn genetic diseases [RCV003371439] Chr1:21279254 [GRCh38]
Chr1:21605747 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.861G>T (p.Gln287His) single nucleotide variant Inborn genetic diseases [RCV003384862] Chr1:21256106 [GRCh38]
Chr1:21582599 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.1445T>C (p.Leu482Pro) single nucleotide variant Inborn genetic diseases [RCV003350337] Chr1:21236789 [GRCh38]
Chr1:21563282 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.796G>T (p.Asp266Tyr) single nucleotide variant Inborn genetic diseases [RCV003381862] Chr1:21257557 [GRCh38]
Chr1:21584050 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.571A>G (p.Ile191Val) single nucleotide variant Inborn genetic diseases [RCV003378170] Chr1:21260315 [GRCh38]
Chr1:21586808 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.43G>T (p.Ala15Ser) single nucleotide variant Inborn genetic diseases [RCV003366910] Chr1:21290372 [GRCh38]
Chr1:21616865 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_001397.3(ECE1):c.44C>T (p.Ala15Val) single nucleotide variant Inborn genetic diseases [RCV003366911] Chr1:21290371 [GRCh38]
Chr1:21616864 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12
likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_001397.3(ECE1):c.*2220C>T single nucleotide variant not provided [RCV003412868] Chr1:21217735 [GRCh38]
Chr1:21544228 [GRCh37]
Chr1:1p36.12
likely benign
NM_001397.3(ECE1):c.139-35C>T single nucleotide variant not provided [RCV003412869] Chr1:21279367 [GRCh38]
Chr1:21605860 [GRCh37]
Chr1:1p36.12
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5979
Count of miRNA genes:1157
Interacting mature miRNAs:1490
Transcripts:ENST00000264205, ENST00000357071, ENST00000374893, ENST00000415912, ENST00000436918, ENST00000463334, ENST00000470394, ENST00000473505, ENST00000481130, ENST00000526194, ENST00000527991, ENST00000528294, ENST00000531334
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.

Markers in Region
D1S478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,599,727 - 21,599,897UniSTSGRCh37
Build 36121,472,314 - 21,472,484RGDNCBI36
Celera119,924,617 - 19,924,787RGD
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1p36UniSTS
HuRef119,845,412 - 19,845,586UniSTS
Marshfield Genetic Map148.53RGD
Marshfield Genetic Map148.53UniSTS
Genethon Genetic Map149.6UniSTS
deCODE Assembly Map140.0UniSTS
GeneMap99-GB4 RH Map178.14UniSTS
Whitehead-RH Map169.6UniSTS
NCBI RH Map1110.0UniSTS
SHGC-30327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,546,039 - 21,546,169UniSTSGRCh37
Build 36121,418,626 - 21,418,756RGDNCBI36
Celera119,870,938 - 19,871,068RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,791,735 - 19,791,865UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
Whitehead-RH Map168.2UniSTS
NCBI RH Map1110.0UniSTS
GeneMap99-G3 RH Map11421.0UniSTS
SHGC-74323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,543,815 - 21,543,924UniSTSGRCh37
Build 36121,416,402 - 21,416,511RGDNCBI36
Celera119,868,714 - 19,868,823RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,789,511 - 19,789,620UniSTS
TNG Radiation Hybrid Map18410.0UniSTS
GeneMap99-GB4 RH Map174.58UniSTS
NCBI RH Map1104.1UniSTS
RH91799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,543,761 - 21,543,934UniSTSGRCh37
Build 36121,416,348 - 21,416,521RGDNCBI36
Celera119,868,660 - 19,868,833RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,789,457 - 19,789,630UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
D1S1373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,610,323 - 21,610,554UniSTSGRCh37
Build 36121,482,910 - 21,483,141RGDNCBI36
Celera119,935,202 - 19,935,433RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,856,001 - 19,856,232UniSTS
D1S1376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,606,032 - 21,606,226UniSTSGRCh37
Build 36121,478,619 - 21,478,813RGDNCBI36
Celera119,930,922 - 19,931,116RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,851,722 - 19,851,916UniSTS
D1S1387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,547,428 - 21,547,630UniSTSGRCh37
Build 36121,420,015 - 21,420,217RGDNCBI36
Celera119,872,327 - 19,872,529RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,793,124 - 19,793,326UniSTS
D1S56  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,646,790 - 21,646,902UniSTSGRCh37
Build 36121,519,377 - 21,519,489RGDNCBI36
Celera119,971,669 - 19,971,781RGD
HuRef119,892,480 - 19,892,592UniSTS
RH11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,546,122 - 21,546,305UniSTSGRCh37
Build 36121,418,709 - 21,418,892RGDNCBI36
Celera119,871,021 - 19,871,204RGD
Cytogenetic Map1p36.1UniSTS
HuRef119,791,818 - 19,792,001UniSTS
GeneMap99-GB4 RH Map174.02UniSTS
NCBI RH Map1104.1UniSTS
MARC_7137-7138:996687538:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,553,667 - 21,554,454UniSTSGRCh37
Build 36121,426,254 - 21,427,041RGDNCBI36
Celera119,878,566 - 19,879,353RGD
HuRef119,799,364 - 19,800,151UniSTS
D1S56  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.1UniSTS


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 2431 2945 1711 611 1814 453 3992 1814 2822 404 1446 1608 171 1204 2428 3
Low 7 46 14 12 133 12 364 383 901 15 14 5 4 1 360 2 1
Below cutoff 1 1 3 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A44623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB031742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF018034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ130828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY953519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC077076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP234532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP337331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU733112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN298523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN298525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D43698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D49471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA436879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA445355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA445401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB290492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264205   ⟹   ENSP00000264205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,219,937 - 21,290,257 (-)Ensembl
RefSeq Acc Id: ENST00000357071   ⟹   ENSP00000349581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,218,584 - 21,279,549 (-)Ensembl
RefSeq Acc Id: ENST00000374893   ⟹   ENSP00000364028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,217,250 - 21,290,463 (-)Ensembl
RefSeq Acc Id: ENST00000415912   ⟹   ENSP00000405088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,217,247 - 21,345,504 (-)Ensembl
RefSeq Acc Id: ENST00000436918   ⟹   ENSP00000388439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,219,894 - 21,290,464 (-)Ensembl
RefSeq Acc Id: ENST00000463334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,272,835 - 21,345,137 (-)Ensembl
RefSeq Acc Id: ENST00000470394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,233,570 - 21,238,350 (-)Ensembl
RefSeq Acc Id: ENST00000473505   ⟹   ENSP00000431856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,260,313 - 21,280,069 (-)Ensembl
RefSeq Acc Id: ENST00000481130   ⟹   ENSP00000436633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,272,746 - 21,298,999 (-)Ensembl
RefSeq Acc Id: ENST00000526194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,233,105 - 21,290,463 (-)Ensembl
RefSeq Acc Id: ENST00000527991   ⟹   ENSP00000432860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,272,832 - 21,294,424 (-)Ensembl
RefSeq Acc Id: ENST00000528294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,238,149 - 21,256,717 (-)Ensembl
RefSeq Acc Id: ENST00000531334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,219,814 - 21,222,081 (-)Ensembl
RefSeq Acc Id: ENST00000649812   ⟹   ENSP00000497333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,217,281 - 21,345,572 (-)Ensembl
RefSeq Acc Id: NM_001113347   ⟹   NP_001106818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,279,615 (-)NCBI
GRCh37121,543,740 - 21,672,034 (-)ENTREZGENE
HuRef119,789,436 - 19,917,657 (-)ENTREZGENE
CHM1_1121,655,386 - 21,717,830 (-)NCBI
T2T-CHM13v2.0121,044,316 - 21,106,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001113348   ⟹   NP_001106819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,345,504 (-)NCBI
GRCh37121,543,740 - 21,672,034 (-)NCBI
HuRef119,789,436 - 19,917,657 (-)ENTREZGENE
CHM1_1121,655,386 - 21,783,707 (-)NCBI
T2T-CHM13v2.0121,044,316 - 21,172,559 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001113349   ⟹   NP_001106820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,290,215 (-)NCBI
GRCh37121,543,740 - 21,672,034 (-)ENTREZGENE
HuRef119,789,436 - 19,917,657 (-)ENTREZGENE
CHM1_1121,655,386 - 21,728,413 (-)NCBI
T2T-CHM13v2.0121,044,316 - 21,117,268 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001397   ⟹   NP_001388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,290,463 (-)NCBI
GRCh37121,543,740 - 21,672,034 (-)ENTREZGENE
Build 36121,418,939 - 21,489,494 (-)NCBI Archive
HuRef119,789,436 - 19,917,657 (-)ENTREZGENE
CHM1_1121,655,386 - 21,728,629 (-)NCBI
T2T-CHM13v2.0121,044,316 - 21,117,516 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710398   ⟹   XP_006710461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,294,430 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540872   ⟹   XP_011539174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,330,085 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540873   ⟹   XP_011539175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,345,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448096   ⟹   XP_047304052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,217,250 - 21,320,955 (-)NCBI
RefSeq Acc Id: XM_054334813   ⟹   XP_054190788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,044,316 - 21,157,142 (-)NCBI
RefSeq Acc Id: XM_054334814   ⟹   XP_054190789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,044,316 - 21,148,008 (-)NCBI
RefSeq Acc Id: XM_054334815   ⟹   XP_054190790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,044,316 - 21,121,477 (-)NCBI
RefSeq Acc Id: XM_054334816   ⟹   XP_054190791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,044,316 - 21,172,330 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001106818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001106820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710461 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539174 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539175 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190791 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD08993 (Get FASTA)   NCBI Sequence Viewer  
  AAD21221 (Get FASTA)   NCBI Sequence Viewer  
  AAI17257 (Get FASTA)   NCBI Sequence Viewer  
  AAI26258 (Get FASTA)   NCBI Sequence Viewer  
  AAX35820 (Get FASTA)   NCBI Sequence Viewer  
  BAA07800 (Get FASTA)   NCBI Sequence Viewer  
  BAA08442 (Get FASTA)   NCBI Sequence Viewer  
  BAA83687 (Get FASTA)   NCBI Sequence Viewer  
  BAF83345 (Get FASTA)   NCBI Sequence Viewer  
  BAG59124 (Get FASTA)   NCBI Sequence Viewer  
  BAG65053 (Get FASTA)   NCBI Sequence Viewer  
  CAA02807 (Get FASTA)   NCBI Sequence Viewer  
  CAA63015 (Get FASTA)   NCBI Sequence Viewer  
  CAA63016 (Get FASTA)   NCBI Sequence Viewer  
  CAA66922 (Get FASTA)   NCBI Sequence Viewer  
  CAA84548 (Get FASTA)   NCBI Sequence Viewer  
  CAB46443 (Get FASTA)   NCBI Sequence Viewer  
  EAW94957 (Get FASTA)   NCBI Sequence Viewer  
  EAW94958 (Get FASTA)   NCBI Sequence Viewer  
  EAW94959 (Get FASTA)   NCBI Sequence Viewer  
  EAW94960 (Get FASTA)   NCBI Sequence Viewer  
  EAW94961 (Get FASTA)   NCBI Sequence Viewer  
  EAW94962 (Get FASTA)   NCBI Sequence Viewer  
  EAW94963 (Get FASTA)   NCBI Sequence Viewer  
  EAW94964 (Get FASTA)   NCBI Sequence Viewer  
  EAW94965 (Get FASTA)   NCBI Sequence Viewer  
  EAW94966 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264205
  ENSP00000264205.6
  ENSP00000349581
  ENSP00000349581.4
  ENSP00000364028
  ENSP00000364028.6
  ENSP00000388439.2
  ENSP00000405088
  ENSP00000405088.2
  ENSP00000431856.1
  ENSP00000432860.1
  ENSP00000436633.1
  ENSP00000497333.1
GenBank Protein P42892 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001106819   ⟸   NM_001113348
- Peptide Label: isoform 4
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001388   ⟸   NM_001397
- Peptide Label: isoform 1
- UniProtKB: Q9UPM4 (UniProtKB/Swiss-Prot),   Q9UPF4 (UniProtKB/Swiss-Prot),   Q9UJQ6 (UniProtKB/Swiss-Prot),   Q5THM8 (UniProtKB/Swiss-Prot),   Q5THM7 (UniProtKB/Swiss-Prot),   Q5THM5 (UniProtKB/Swiss-Prot),   Q58GE7 (UniProtKB/Swiss-Prot),   Q2Z2K8 (UniProtKB/Swiss-Prot),   Q17RN5 (UniProtKB/Swiss-Prot),   Q14217 (UniProtKB/Swiss-Prot),   B4E291 (UniProtKB/Swiss-Prot),   A8K3P1 (UniProtKB/Swiss-Prot),   Q9Y501 (UniProtKB/Swiss-Prot),   P42892 (UniProtKB/Swiss-Prot),   B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001106820   ⟸   NM_001113349
- Peptide Label: isoform 2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001106818   ⟸   NM_001113347
- Peptide Label: isoform 3
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710461   ⟸   XM_006710398
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539175   ⟸   XM_011540873
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539174   ⟸   XM_011540872
- Peptide Label: isoform X1
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497333   ⟸   ENST00000649812
RefSeq Acc Id: ENSP00000364028   ⟸   ENST00000374893
RefSeq Acc Id: ENSP00000405088   ⟸   ENST00000415912
RefSeq Acc Id: ENSP00000436633   ⟸   ENST00000481130
RefSeq Acc Id: ENSP00000431856   ⟸   ENST00000473505
RefSeq Acc Id: ENSP00000432860   ⟸   ENST00000527991
RefSeq Acc Id: ENSP00000264205   ⟸   ENST00000264205
RefSeq Acc Id: ENSP00000349581   ⟸   ENST00000357071
RefSeq Acc Id: ENSP00000388439   ⟸   ENST00000436918
RefSeq Acc Id: XP_047304052   ⟸   XM_047448096
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190791   ⟸   XM_054334816
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190788   ⟸   XM_054334813
- Peptide Label: isoform X1
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190789   ⟸   XM_054334814
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054190790   ⟸   XM_054334815
- Peptide Label: isoform X2
- UniProtKB: B4DKB2 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P42892-F1-model_v2 AlphaFold P42892 1-770 view protein structure

Promoters
RGD ID:6854398
Promoter ID:EPDNEW_H364
Type:initiation region
Name:ECE1_4
Description:endothelin converting enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H365  EPDNEW_H367  EPDNEW_H366  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,279,531 - 21,279,591EPDNEW
RGD ID:6854400
Promoter ID:EPDNEW_H365
Type:initiation region
Name:ECE1_3
Description:endothelin converting enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H364  EPDNEW_H367  EPDNEW_H366  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,290,215 - 21,290,275EPDNEW
RGD ID:6854406
Promoter ID:EPDNEW_H366
Type:initiation region
Name:ECE1_2
Description:endothelin converting enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H364  EPDNEW_H365  EPDNEW_H367  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,290,458 - 21,290,518EPDNEW
RGD ID:6854404
Promoter ID:EPDNEW_H367
Type:initiation region
Name:ECE1_1
Description:endothelin converting enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H364  EPDNEW_H365  EPDNEW_H366  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,345,504 - 21,345,564EPDNEW
RGD ID:6785084
Promoter ID:HG_KWN:1188
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour
Transcripts:NM_001113347,   OTTHUMT00000007475
Position:
Human AssemblyChrPosition (strand)Source
Build 36121,479,016 - 21,479,516 (-)MPROMDB
RGD ID:6785183
Promoter ID:HG_KWN:1189
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000374894,   NM_001113349,   NM_001397,   OTTHUMT00000007474,   UC009VQA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36121,489,106 - 21,489,977 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3146 AgrOrtholog
COSMIC ECE1 COSMIC
Ensembl Genes ENSG00000117298 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264205 ENTREZGENE
  ENST00000264205.10 UniProtKB/Swiss-Prot
  ENST00000357071 ENTREZGENE
  ENST00000357071.8 UniProtKB/Swiss-Prot
  ENST00000374893 ENTREZGENE
  ENST00000374893.11 UniProtKB/Swiss-Prot
  ENST00000415912 ENTREZGENE
  ENST00000415912.6 UniProtKB/Swiss-Prot
  ENST00000436918.6 UniProtKB/TrEMBL
  ENST00000473505.5 UniProtKB/TrEMBL
  ENST00000481130.6 UniProtKB/TrEMBL
  ENST00000527991.2 UniProtKB/TrEMBL
  ENST00000649812.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117298 GTEx
HGNC ID HGNC:3146 ENTREZGENE
Human Proteome Map ECE1 Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_dom_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1889 UniProtKB/Swiss-Prot
NCBI Gene 1889 ENTREZGENE
OMIM 600423 OMIM
PANTHER PTHR11733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11733:SF130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27594 PharmGKB
PRINTS NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISF9_HUMAN UniProtKB/TrEMBL
  A8K3P1 ENTREZGENE
  B4DKB2 ENTREZGENE, UniProtKB/TrEMBL
  B4E291 ENTREZGENE
  E9PHZ1_HUMAN UniProtKB/TrEMBL
  E9PJG1_HUMAN UniProtKB/TrEMBL
  E9PN99_HUMAN UniProtKB/TrEMBL
  ECE1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14217 ENTREZGENE
  Q17RN5 ENTREZGENE
  Q2Z2K8 ENTREZGENE
  Q58GE7 ENTREZGENE
  Q5THM5 ENTREZGENE
  Q5THM7 ENTREZGENE
  Q5THM8 ENTREZGENE
  Q9UJQ6 ENTREZGENE
  Q9UPF4 ENTREZGENE
  Q9UPM4 ENTREZGENE
  Q9Y501 ENTREZGENE
UniProt Secondary A8K3P1 UniProtKB/Swiss-Prot
  B4E291 UniProtKB/Swiss-Prot
  Q14217 UniProtKB/Swiss-Prot
  Q17RN5 UniProtKB/Swiss-Prot
  Q2Z2K8 UniProtKB/Swiss-Prot
  Q58GE7 UniProtKB/Swiss-Prot
  Q5THM5 UniProtKB/Swiss-Prot
  Q5THM7 UniProtKB/Swiss-Prot
  Q5THM8 UniProtKB/Swiss-Prot
  Q9UJQ6 UniProtKB/Swiss-Prot
  Q9UPF4 UniProtKB/Swiss-Prot
  Q9UPM4 UniProtKB/Swiss-Prot
  Q9Y501 UniProtKB/Swiss-Prot