ENC1 (ectodermal-neural cortex 1) - Rat Genome Database

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Gene: ENC1 (ectodermal-neural cortex 1) Homo sapiens
Analyze
Symbol: ENC1
Name: ectodermal-neural cortex 1
RGD ID: 1352868
HGNC Page HGNC:3345
Description: Predicted to enable actin binding activity. Involved in negative regulation of translation; proteasomal ubiquitin-independent protein catabolic process; and protein ubiquitination. Located in cytoplasm. Part of Cul3-RING ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCL28; ectoderm-neural cortex protein 1; ectodermal-neural cortex (with BTB-like domain); ectodermal-neural cortex 1 (with BTB domain); ectodermal-neural cortex 1 (with BTB-like domain); ENC-1; FLJ39259; FLJ57577; kelch-like 35; kelch-like 37; kelch-like family member 37; kelch-like protein 37; KLHL35; KLHL37; NRPB; nuclear matrix protein NRP/B; nuclear restricted protein, BTB domain-like (brain); p53-induced gene 10 protein; PIG10; TP53I10; tumor protein p53 inducible protein 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38574,627,409 - 74,640,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl574,627,406 - 74,641,424 (-)EnsemblGRCh38hg38GRCh38
GRCh37573,923,234 - 73,936,553 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36573,958,990 - 73,972,273 (-)NCBINCBI36Build 36hg18NCBI36
Build 34573,958,990 - 73,972,273NCBI
Celera569,818,021 - 69,832,031 (-)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef569,128,052 - 69,142,065 (-)NCBIHuRef
CHM1_1573,355,796 - 73,369,813 (-)NCBICHM1_1
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)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
(S)-colchicine  (EXP)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
adenine  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
Archazolid B  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzbromarone  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbaryl  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carmustine  (ISO)
casticin  (EXP)
cefaloridine  (ISO)
chenodeoxycholic acid  (EXP)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
DDT  (ISO)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
Didecyldimethylammonium  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
kainic acid  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
levofloxacin  (ISO)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
mitoxantrone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nefazodone  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
nimesulide  (ISO)
Nutlin-3  (EXP)
obeticholic acid  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
phenethyl isothiocyanate  (ISO)
phenylmercury acetate  (EXP)
phorone  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
Tanshinone I  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
tioguanine  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IEA,ISO)
Cul3-RING ubiquitin ligase complex  (IBA,IDA)
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IEA)
neuronal cell body  (IEA,ISO)
nuclear matrix  (IEA,ISO)
nucleoplasm  (IEA,ISO)
nucleus  (IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9305847   PMID:9566959   PMID:9683534   PMID:10640818   PMID:10828068   PMID:10974570   PMID:11691783   PMID:12477932   PMID:14702039   PMID:15459180   PMID:15489334   PMID:15761153  
PMID:15983046   PMID:16306221   PMID:16344560   PMID:17875699   PMID:17893145   PMID:18854154   PMID:18981988   PMID:19121354   PMID:19424503   PMID:20511222   PMID:21145461   PMID:21873635  
PMID:22939624   PMID:23676014   PMID:26637326   PMID:28441426   PMID:28514442   PMID:28611215   PMID:30125994   PMID:30190310   PMID:32618411   PMID:33693958   PMID:33961781   PMID:34362881  
PMID:35015607   PMID:35120648   PMID:35563538   PMID:35914814   PMID:37495603   PMID:38177640   PMID:39455818  


Genomics

Comparative Map Data
ENC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38574,627,409 - 74,640,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl574,627,406 - 74,641,424 (-)EnsemblGRCh38hg38GRCh38
GRCh37573,923,234 - 73,936,553 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36573,958,990 - 73,972,273 (-)NCBINCBI36Build 36hg18NCBI36
Build 34573,958,990 - 73,972,273NCBI
Celera569,818,021 - 69,832,031 (-)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef569,128,052 - 69,142,065 (-)NCBIHuRef
CHM1_1573,355,796 - 73,369,813 (-)NCBICHM1_1
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBIT2T-CHM13v2.0
Enc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391397,377,613 - 97,389,548 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1397,377,613 - 97,389,542 (+)EnsemblGRCm39 Ensembl
GRCm381397,241,105 - 97,253,040 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1397,241,105 - 97,253,034 (+)EnsemblGRCm38mm10GRCm38
MGSCv371398,011,060 - 98,022,995 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361398,341,869 - 98,353,733 (+)NCBIMGSCv36mm8
Celera13100,873,931 - 100,885,879 (+)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1350.66NCBI
Enc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8230,285,274 - 30,297,194 (+)NCBIGRCr8
mRatBN7.2228,550,670 - 28,562,591 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl228,550,464 - 28,562,713 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx235,605,171 - 35,617,034 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0233,699,505 - 33,711,368 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0228,519,264 - 28,531,129 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0228,049,217 - 28,061,023 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl228,049,217 - 28,061,029 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0247,160,036 - 47,171,842 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4227,720,805 - 27,733,168 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1227,364,788 - 27,653,537 (+)NCBI
Celera224,591,966 - 24,603,770 (+)NCBICelera
Cytogenetic Map2q12NCBI
Enc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542526,017,684 - 26,029,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542526,017,684 - 26,029,262 (+)NCBIChiLan1.0ChiLan1.0
ENC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2440,671,223 - 40,684,243 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1538,824,858 - 38,837,878 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0540,668,899 - 40,682,887 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1541,276,022 - 41,290,189 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl541,281,115 - 41,282,884 (+)Ensemblpanpan1.1panPan2
ENC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1257,175,851 - 57,184,445 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl257,182,480 - 57,184,249 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha254,153,002 - 54,164,687 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0257,699,330 - 57,711,010 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl257,701,049 - 57,710,976 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1254,763,393 - 54,775,077 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0255,526,509 - 55,538,190 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0256,423,533 - 56,435,224 (-)NCBIUU_Cfam_GSD_1.0
Enc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213188,837,852 - 188,850,667 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365492,008,363 - 2,020,948 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365492,008,365 - 2,020,948 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl283,678,521 - 83,691,400 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1283,678,518 - 83,691,812 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2285,271,292 - 85,284,204 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1468,980,137 - 68,994,112 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl468,987,452 - 68,989,218 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604917,758,086 - 17,772,066 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Enc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624924281,327 - 294,248 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624924281,251 - 294,248 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENC1
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
NM_003633.3(ENC1):c.305T>C (p.Leu102Pro) single nucleotide variant Malignant melanoma [RCV000066989] Chr5:74636181 [GRCh38]
Chr5:73932006 [GRCh37]
Chr5:73967762 [NCBI36]
Chr5:5q13.3		 not provided
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_003633.4(ENC1):c.866G>A (p.Arg289Gln) single nucleotide variant not specified [RCV004313004] Chr5:74635620 [GRCh38]
Chr5:73931445 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.272A>G (p.Asn91Ser) single nucleotide variant not specified [RCV004317054] Chr5:74636214 [GRCh38]
Chr5:73932039 [GRCh37]
Chr5:5q13.3		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3 copy number gain not provided [RCV001005684] Chr5:72829994..74076751 [GRCh37]
Chr5:5q13.2-13.3		 uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NM_003633.4(ENC1):c.-5A>G single nucleotide variant not provided [RCV001715506] Chr5:74636490 [GRCh38]
Chr5:73932315 [GRCh37]
Chr5:5q13.3		 benign
NM_003633.4(ENC1):c.782A>G (p.Lys261Arg) single nucleotide variant not specified [RCV004156098] Chr5:74635704 [GRCh38]
Chr5:73931529 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.539G>C (p.Arg180Thr) single nucleotide variant not specified [RCV004229889] Chr5:74635947 [GRCh38]
Chr5:73931772 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.46G>A (p.Gly16Ser) single nucleotide variant not specified [RCV004128477] Chr5:74636440 [GRCh38]
Chr5:73932265 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.1748C>T (p.Thr583Ile) single nucleotide variant not specified [RCV004225730] Chr5:74634738 [GRCh38]
Chr5:73930563 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.979C>G (p.Pro327Ala) single nucleotide variant not specified [RCV004132512] Chr5:74635507 [GRCh38]
Chr5:73931332 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.112C>A (p.Leu38Ile) single nucleotide variant not specified [RCV004205929] Chr5:74636374 [GRCh38]
Chr5:73932199 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.734A>G (p.Tyr245Cys) single nucleotide variant not specified [RCV004265621] Chr5:74635752 [GRCh38]
Chr5:73931577 [GRCh37]
Chr5:5q13.3		 uncertain significance
NC_000005.10:g.(?_74640023)_(74705321_74713505)del deletion Sandhoff disease, infantile form [RCV000004087] Chr5:74640023..74705321 [GRCh38]
Chr5:5q13.3		 pathogenic
GRCh37/hg19 5q13.3(chr5:73484420-73939481)x3 copy number gain not provided [RCV003484615] Chr5:73484420..73939481 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.417C>G (p.Phe139Leu) single nucleotide variant ENC1-related disorder [RCV003939747] Chr5:74636069 [GRCh38]
Chr5:73931894 [GRCh37]
Chr5:5q13.3		 uncertain significance
GRCh37/hg19 5q13.2-13.3(chr5:73287775-74043181)x1 copy number loss not specified [RCV003986586] Chr5:73287775..74043181 [GRCh37]
Chr5:5q13.2-13.3		 uncertain significance
NM_003633.4(ENC1):c.464T>A (p.Leu155Gln) single nucleotide variant not specified [RCV004382722] Chr5:74636022 [GRCh38]
Chr5:73931847 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.206G>A (p.Arg69His) single nucleotide variant not specified [RCV004625009] Chr5:74636280 [GRCh38]
Chr5:73932105 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.1762C>T (p.Pro588Ser) single nucleotide variant not specified [RCV004625010] Chr5:74634724 [GRCh38]
Chr5:73930549 [GRCh37]
Chr5:5q13.3		 uncertain significance
NM_003633.4(ENC1):c.1322G>A (p.Ser441Asn) single nucleotide variant not specified [RCV004625011] Chr5:74635164 [GRCh38]
Chr5:73930989 [GRCh37]
Chr5:5q13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2939
Count of miRNA genes:974
Interacting mature miRNAs:1162
Transcripts:ENST00000302351, ENST00000508331, ENST00000509127, ENST00000509284, ENST00000510316, ENST00000537006
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.

Markers in Region
RH48110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37573,934,351 - 73,934,475UniSTSGRCh37
Build 36573,970,107 - 73,970,231RGDNCBI36
Celera569,829,134 - 69,829,258RGD
Cytogenetic Map5q13UniSTS
HuRef569,139,168 - 69,139,292UniSTS
GeneMap99-GB4 RH Map5366.77UniSTS
NCBI RH Map5339.2UniSTS
D5S1939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37573,923,311 - 73,923,462UniSTSGRCh37
Build 36573,959,067 - 73,959,218RGDNCBI36
Celera569,818,098 - 69,818,249RGD
Cytogenetic Map5q13UniSTS
HuRef569,128,132 - 69,128,283UniSTS
ENC1_8821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37573,923,193 - 73,924,002UniSTSGRCh37
Build 36573,958,949 - 73,959,758RGDNCBI36
Celera569,817,980 - 69,818,789RGD
HuRef569,128,014 - 69,128,823UniSTS
D5S1949E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37573,924,807 - 73,924,945UniSTSGRCh37
Build 36573,960,563 - 73,960,701RGDNCBI36
Celera569,819,594 - 69,819,732RGD
Cytogenetic Map5q13UniSTS
HuRef569,129,628 - 69,129,766UniSTS
D5S2420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37573,923,452 - 73,923,553UniSTSGRCh37
Build 36573,959,208 - 73,959,309RGDNCBI36
Celera569,818,239 - 69,818,340RGD
Cytogenetic Map5q13UniSTS
HuRef569,128,273 - 69,128,374UniSTS
GeneMap99-GB4 RH Map5371.33UniSTS
Whitehead-RH Map5264.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5342.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2433 2788 2244 4959 1723 2346 4 622 1928 464 2268 7263 6435 51 3723 847 1732 1613 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF005381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY049781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA032687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA498140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA785554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302351   ⟹   ENSP00000306356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,627,409 - 74,640,728 (-)Ensembl
Ensembl Acc Id: ENST00000508331   ⟹   ENSP00000422943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,636,337 - 74,641,424 (-)Ensembl
Ensembl Acc Id: ENST00000509127   ⟹   ENSP00000426889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,636,474 - 74,640,728 (-)Ensembl
Ensembl Acc Id: ENST00000509284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,629,552 - 74,632,262 (-)Ensembl
Ensembl Acc Id: ENST00000510316   ⟹   ENSP00000423804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,627,409 - 74,641,424 (-)Ensembl
Ensembl Acc Id: ENST00000537006   ⟹   ENSP00000446289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,629,929 - 74,640,649 (-)Ensembl
Ensembl Acc Id: ENST00000618628   ⟹   ENSP00000479101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,627,406 - 74,641,424 (-)Ensembl
Ensembl Acc Id: ENST00000651128   ⟹   ENSP00000499185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,627,431 - 74,640,582 (-)Ensembl
RefSeq Acc Id: NM_001256574   ⟹   NP_001243503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
GRCh37573,923,231 - 73,937,249 (-)NCBI
HuRef569,128,052 - 69,142,065 (-)NCBI
CHM1_1573,355,796 - 73,369,813 (-)NCBI
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256575   ⟹   NP_001243504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
GRCh37573,923,231 - 73,937,249 (-)NCBI
HuRef569,128,052 - 69,142,065 (-)NCBI
CHM1_1573,355,796 - 73,369,813 (-)NCBI
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256576   ⟹   NP_001243505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
GRCh37573,923,231 - 73,937,249 (-)NCBI
HuRef569,128,052 - 69,142,065 (-)NCBI
CHM1_1573,355,796 - 73,369,813 (-)NCBI
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003633   ⟹   NP_003624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
GRCh37573,923,231 - 73,937,249 (-)NCBI
Build 36573,958,990 - 73,972,273 (-)NCBI Archive
HuRef569,128,052 - 69,142,065 (-)NCBI
CHM1_1573,355,796 - 73,369,813 (-)NCBI
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046318
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
GRCh37573,923,231 - 73,937,249 (-)NCBI
HuRef569,128,052 - 69,142,065 (-)NCBI
CHM1_1573,355,796 - 73,369,813 (-)NCBI
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543696   ⟹   XP_011541998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543697   ⟹   XP_011541999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,627,409 - 74,640,728 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054353726   ⟹   XP_054209701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
RefSeq Acc Id: XM_054353727   ⟹   XP_054209702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0575,108,382 - 75,121,693 (-)NCBI
RefSeq Acc Id: NP_003624   ⟸   NM_003633
- Peptide Label: isoform 1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL),   Q96L69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243505   ⟸   NM_001256576
- Peptide Label: isoform 2
- UniProtKB: Q96L69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243504   ⟸   NM_001256575
- Peptide Label: isoform 1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL),   Q96L69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243503   ⟸   NM_001256574
- Peptide Label: isoform 1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL),   Q96L69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541999   ⟸   XM_011543697
- Peptide Label: isoform X1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL),   Q96L69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541998   ⟸   XM_011543696
- Peptide Label: isoform X1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL),   Q96L69 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000422943   ⟸   ENST00000508331
Ensembl Acc Id: ENSP00000499185   ⟸   ENST00000651128
Ensembl Acc Id: ENSP00000426889   ⟸   ENST00000509127
Ensembl Acc Id: ENSP00000446289   ⟸   ENST00000537006
Ensembl Acc Id: ENSP00000423804   ⟸   ENST00000510316
Ensembl Acc Id: ENSP00000479101   ⟸   ENST00000618628
Ensembl Acc Id: ENSP00000306356   ⟸   ENST00000302351
RefSeq Acc Id: XP_054209702   ⟸   XM_054353727
- Peptide Label: isoform X1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209701   ⟸   XM_054353726
- Peptide Label: isoform X1
- UniProtKB: O75464 (UniProtKB/Swiss-Prot),   O14682 (UniProtKB/Swiss-Prot),   E9PFU0 (UniProtKB/Swiss-Prot),   B4DHJ1 (UniProtKB/Swiss-Prot),   Q9UPG9 (UniProtKB/Swiss-Prot),   Q53XS2 (UniProtKB/TrEMBL)
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14682-F1-model_v2 AlphaFold O14682 1-589 view protein structure

Promoters
RGD ID:6812703
Promoter ID:HG_ACW:63962
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENC1.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36573,963,241 - 73,963,741 (-)MPROMDB
RGD ID:6803029
Promoter ID:HG_KWN:50466
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010IZG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36573,966,541 - 73,968,442 (-)MPROMDB
RGD ID:6803030
Promoter ID:HG_KWN:50468
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003633
Position:
Human AssemblyChrPosition (strand)Source
Build 36573,972,191 - 73,973,557 (-)MPROMDB
RGD ID:6852210
Promoter ID:EP73911
Type:multiple initiation site
Name:HS_ENC1
Description:Ectodermal-neural cortex (with BTB-like domain).
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 36573,972,289 - 73,972,349EPD
RGD ID:6869872
Promoter ID:EPDNEW_H8101
Type:initiation region
Name:ENC1_1
Description:ectodermal-neural cortex 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8102  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,640,726 - 74,640,786EPDNEW
RGD ID:6869874
Promoter ID:EPDNEW_H8102
Type:multiple initiation site
Name:ENC1_2
Description:ectodermal-neural cortex 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8101  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,641,349 - 74,641,409EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3345 AgrOrtholog
COSMIC ENC1 COSMIC
Ensembl Genes ENSG00000171617 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302351 ENTREZGENE
  ENST00000302351.9 UniProtKB/Swiss-Prot
  ENST00000508331.1 UniProtKB/TrEMBL
  ENST00000510316 ENTREZGENE
  ENST00000510316.5 UniProtKB/Swiss-Prot
  ENST00000618628 ENTREZGENE
  ENST00000618628.4 UniProtKB/Swiss-Prot
  ENST00000651128 ENTREZGENE
  ENST00000651128.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171617 GTEx
HGNC ID HGNC:3345 ENTREZGENE
Human Proteome Map ENC1 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB-kelch_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENC1_BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8507 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8507 ENTREZGENE
OMIM 605173 OMIM
PANTHER ACTIN-BINDING PROTEIN IPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KELCH PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27782 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DHJ1 ENTREZGENE
  D6R9D7_HUMAN UniProtKB/TrEMBL
  E9PFU0 ENTREZGENE
  ENC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O75464 ENTREZGENE
  Q53XS2 ENTREZGENE, UniProtKB/TrEMBL
  Q96L69 ENTREZGENE, UniProtKB/TrEMBL
  Q9UPG9 ENTREZGENE
UniProt Secondary B4DHJ1 UniProtKB/Swiss-Prot
  E9PFU0 UniProtKB/Swiss-Prot
  O75464 UniProtKB/Swiss-Prot
  Q9UPG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 ENC1  ectodermal-neural cortex 1    ectodermal-neural cortex 1 (with BTB domain)  Symbol and/or name change 5135510 APPROVED
2013-02-06 ENC1  ectodermal-neural cortex 1 (with BTB domain)    ectodermal-neural cortex 1 (with BTB-like domain)  Symbol and/or name change 5135510 APPROVED
2011-07-27 ENC1  ectodermal-neural cortex 1 (with BTB-like domain)  ENC1  ectodermal-neural cortex (with BTB-like domain)  Symbol and/or name change 5135510 APPROVED