NAE1 (NEDD8 activating enzyme E1 subunit 1) - Rat Genome Database

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Gene: NAE1 (NEDD8 activating enzyme E1 subunit 1) Homo sapiens
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Symbol: NAE1
Name: NEDD8 activating enzyme E1 subunit 1
RGD ID: 733941
HGNC Page HGNC:621
Description: Enables protein heterodimerization activity and ubiquitin protein ligase binding activity. Contributes to NEDD8 activating enzyme activity. Involved in several processes, including mitotic DNA replication checkpoint signaling; neuron apoptotic process; and protein neddylation. Part of protein-containing complex. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-116A10.1; amyloid beta precursor protein binding protein 1, 59kDa; amyloid beta precursor protein-binding protein 1, 59 kDa; amyloid beta precursor protein-binding protein 1, 59kD; amyloid protein-binding protein 1; app-binding protein 1; APP-BP1; APPBP1; HPP1; NEDD8-activating enzyme E1 regulatory subunit; NEDD8-activating enzyme E1 subunit; NEDFIH; proto-oncogene protein 1; protooncogene protein 1; ula-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC024341.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381666,802,878 - 66,830,976 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1666,802,875 - 66,873,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371666,836,781 - 66,864,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,394,282 - 65,422,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 341665,394,282 - 65,422,370NCBI
Celera1651,345,091 - 51,373,189 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1652,710,930 - 52,739,089 (-)NCBIHuRef
CHM1_11668,243,864 - 68,271,962 (-)NCBICHM1_1
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1HumanAlzheimer's disease  IEP 2302388 RGD 
NAE1Humanmiddle cerebral artery infarction  ISONae1 (Rattus norvegicus)13801046 RGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1Humanautosomal dominant dyskeratosis congenita 6  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyskeratosis congenita and autosomal dominant 6ClinVarPMID:28492532
NAE1Humancataract 5 multiple types  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Cataract 5 multiple typesClinVarPMID:15959809 more ...
NAE1HumanChromosome 16q12 Duplication Syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 16q12 duplication syndromeClinVarPMID:25741868
NAE1HumanNEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaClinVarPMID:25741868
NAE1HumanNEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaClinVarPMID:36608681
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1HumanNEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  IAGP 7240710 OMIM 

1 to 20 of 74 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1Human(-)-epigallocatechin 3-gallate multiple interactionsEXP 6480464[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of NAE1 mRNACTDPMID:22079256
NAE1Human1,2-dimethylhydrazine decreases expressionISONae1 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of NAE1 mRNACTDPMID:22206623
NAE1Human1,3,5-trinitro-1,3,5-triazinane decreases expressionISONae1 (Rattus norvegicus)6480464cyclonite results in decreased expression of NAE1 mRNACTDPMID:25559034
NAE1Human1-chloro-2,4-dinitrobenzene affects bindingEXP 6480464Dinitrochlorobenzene binds to NAE1 proteinCTDPMID:32991956
NAE1Human17alpha-ethynylestradiol increases expressionISONae1 (Mus musculus)6480464Ethinyl Estradiol results in increased expression of NAE1 mRNACTDPMID:17942748
NAE1Human17alpha-ethynylestradiol decreases expressionISONae1 (Rattus norvegicus)6480464Ethinyl Estradiol results in decreased expression of NAE1 mRNACTDPMID:17557909
NAE1Human2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:31675489
NAE1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISONae1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of NAE1 mRNACTDPMID:17942748 and PMID:19465110
NAE1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISONae1 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of NAE1 mRNACTDPMID:21570461
NAE1Human2,4,6-tribromophenol increases expressionEXP 64804642 more ...CTDPMID:31675489
NAE1Human2,4-dinitrotoluene affects expressionISONae1 (Rattus norvegicus)64804642 and 4-dinitrotoluene affects the expression of NAE1 mRNACTDPMID:21346803
NAE1Human2-hydroxypropanoic acid decreases expressionEXP 6480464Lactic Acid results in decreased expression of NAE1 mRNACTDPMID:30851411
NAE1Human3,3',5,5'-tetrabromobisphenol A increases expressionEXP 6480464tetrabromobisphenol A results in increased expression of NAE1 proteinCTDPMID:31675489
NAE1Human3H-1,2-dithiole-3-thione increases expressionISONae1 (Rattus norvegicus)64804641 and 2-dithiol-3-thione results in increased expression of NAE1 mRNACTDPMID:19162173
NAE1Human4,4'-sulfonyldiphenol increases expressionISONae1 (Mus musculus)6480464bisphenol S results in increased expression of NAE1 mRNACTDPMID:39298647
NAE1Human4,4'-sulfonyldiphenol increases expressionEXP 6480464bisphenol S results in increased expression of NAE1 proteinCTDPMID:34186270
NAE1Humanactinomycin D multiple interactionsEXP 6480464[Dactinomycin co-treated with nutlin 3] results in increased secretion of NAE1 proteinCTDPMID:38460933
NAE1Humanafimoxifene affects response to substanceEXP 6480464NAE1 gene affects the susceptibility to afimoxifeneCTDPMID:21482774
NAE1Humanall-trans-retinoic acid multiple interactionsEXP 6480464Thiophenes analog promotes the reaction [Tretinoin results in decreased expression of NAE1 mRNA]CTDPMID:16140955
NAE1Humanall-trans-retinoic acid decreases expressionEXP 6480464Tretinoin results in decreased expression of NAE1 mRNACTDPMID:16140955 and PMID:33167477

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Biological Process
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Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
NAE1Humancytoplasm located_inTAS 150520179 PMID:8626687PINCPMID:8626687
NAE1Humancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-8951648 more ...
NAE1Humanearly endosome  ISONae1 (Rattus norvegicus)9068941 RGDPMID:17611268 and REF_RGD_ID:13801047
NAE1Humanglutamatergic synapse is_active_inIEAUniProtKB:Q8VBW6 and ensembl:ENSMUSP00000034349150520179 EnsemblGO_REF:0000107
NAE1Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
NAE1Humanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
NAE1Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
NAE1Humanprotein-containing complex part_ofIDA 150520179 PMID:12740388UniProtPMID:12740388

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1Humanneddylation pathway  IDA 41408341 RGD 
NAE1Humanproteasome degradation pathway involving cullin-dependent ubiquitin ligases  IDA 41408341 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1HumanAlzheimer's disease pathway   IEA 6907045 KEGGhsa:05010
1 to 20 of 26 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1HumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanCleft palate  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanCoarctation of aorta  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanDecreased circulating IgG concentration  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanDecreased circulating total IgM  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanDelayed CNS myelination  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanGlobal developmental delay  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanHepatomegaly  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanHypoplasia of the corpus callosum  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanHypotonia  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanJoint dislocation  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanJoint hypermobility  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanJoint stiffness  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanLeukopenia  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanLymphopenia  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanNeurodegeneration  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanPostnatal growth retardation  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanRecurrent respiratory infections  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanRecurrent skin infections  IAGP 8699517 HPOMIM:620210 and PMID:36608681
NAE1HumanRecurrent urinary tract infections  IAGP 8699517 HPOMIM:620210 and PMID:36608681
1 to 20 of 26 rows
Object Symbol
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Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
NAE1HumanImmunodeficiency  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: ImmunodeficiencyClinVar 
NAE1HumanLamellar cataract  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lamellar cataractClinVarPMID:15959809 more ...

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#
Reference Title
Reference Citation
1. APP-BP1 mediates APP-induced apoptosis and DNA synthesis and is increased in Alzheimer's disease brain. Chen Y, etal., J Cell Biol. 2003 Oct 13;163(1):27-33.
2. APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. Chow N, etal., J Biol Chem 1996 May 10;271(19):11339-46.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Focal transient ischemia increases APP-BP1 expression in neural progenitor cells. Joo Y, etal., Neuroreport. 2011 Mar 30;22(5):200-5. doi: 10.1097/WNR.0b013e32834449cf.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. A new NEDD8-ligating system for cullin-4A. Osaka F, etal., Genes Dev. 1998 Aug 1;12(15):2263-8. doi: 10.1101/gad.12.15.2263.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Insights into the ubiquitin transfer cascade from the structure of the activating enzyme for NEDD8. Walden H, etal., Nature 2003 Mar 20;422(6929):330-4.
1 to 10 of 10 rows
PMID:10207026   PMID:10493829   PMID:10597293   PMID:10722740   PMID:11230166   PMID:12477932   PMID:12694406   PMID:12740388   PMID:14690597   PMID:14702039   PMID:15361859   PMID:15489334  
PMID:16169070   PMID:16341674   PMID:16400609   PMID:16503656   PMID:16620772   PMID:17220875   PMID:17353931   PMID:18264111   PMID:18627766   PMID:18652489   PMID:19250909   PMID:19490893  
PMID:19615732   PMID:19795456   PMID:21145461   PMID:21151996   PMID:21873635   PMID:21988832   PMID:22046132   PMID:22182960   PMID:22388932   PMID:22863883   PMID:22939629   PMID:23185368  
PMID:25229838   PMID:25921289   PMID:26186194   PMID:26215564   PMID:26344197   PMID:26972000   PMID:27348078   PMID:28514442   PMID:28524877   PMID:28535453   PMID:28581483   PMID:29229926  
PMID:29233905   PMID:29791485   PMID:29973603   PMID:30884312   PMID:31091453   PMID:31332168   PMID:32296183   PMID:32416067   PMID:32687490   PMID:32814053   PMID:32994395   PMID:33462405  
PMID:33857374   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34373451   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35671810   PMID:35677655  
PMID:35696571   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36608681   PMID:36629882   PMID:36632463   PMID:36688959   PMID:37059927   PMID:37223481   PMID:37317656   PMID:37827155  
PMID:38113892  



NAE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381666,802,878 - 66,830,976 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1666,802,875 - 66,873,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371666,836,781 - 66,864,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,394,282 - 65,422,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 341665,394,282 - 65,422,370NCBI
Celera1651,345,091 - 51,373,189 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1652,710,930 - 52,739,089 (-)NCBIHuRef
CHM1_11668,243,864 - 68,271,962 (-)NCBICHM1_1
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBIT2T-CHM13v2.0
Nae1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398105,237,660 - 105,261,269 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8105,237,660 - 105,261,269 (-)EnsemblGRCm39 Ensembl
GRCm388104,511,028 - 104,534,656 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8104,511,028 - 104,534,637 (-)EnsemblGRCm38mm10GRCm38
MGSCv378107,034,928 - 107,058,537 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368107,400,153 - 107,423,744 (-)NCBIMGSCv36mm8
Celera8108,742,436 - 108,767,075 (-)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Nae1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr819452,462 - 478,591 (+)NCBIGRCr8
mRatBN7.219446,015 - 472,145 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl19446,000 - 472,371 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx19441,827 - 468,061 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,208,624 - 1,234,856 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.019483,838 - 510,076 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.019653,510 - 680,378 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl19653,510 - 680,378 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.019646,826 - 673,676 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.419382,556 - 408,667 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.119382,555 - 408,667 (+)NCBI
Celera19446,357 - 467,621 (+)NCBICelera
Cytogenetic Map19p14NCBI
Nae1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543323,333,742 - 23,358,579 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543323,333,797 - 23,358,255 (-)NCBIChiLan1.0ChiLan1.0
NAE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21876,304,088 - 76,332,248 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11682,216,589 - 82,244,743 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01647,119,548 - 47,147,679 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11666,221,829 - 66,246,648 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1666,221,829 - 66,246,865 (-)Ensemblpanpan1.1panPan2
NAE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1582,462,690 - 82,486,097 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl582,462,744 - 82,486,100 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha582,451,391 - 82,474,791 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0582,899,329 - 82,922,733 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl582,899,354 - 82,922,729 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1582,722,479 - 82,745,880 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0582,409,395 - 82,433,102 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0583,048,382 - 83,071,880 (+)NCBIUU_Cfam_GSD_1.0
Nae1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934942,483,986 - 42,505,936 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647517,083,077 - 17,105,133 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647517,083,175 - 17,105,098 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl627,511,466 - 27,540,118 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1627,511,541 - 27,540,142 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NAE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1552,502,729 - 52,531,447 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl552,502,546 - 52,525,262 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604723,380,340 - 23,409,070 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nae1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474619,658,632 - 19,687,884 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474619,648,365 - 19,687,884 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in NAE1
41 total Variants

1 to 10 of 82 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1
pathogenic
NM_001018159.1(NAE1):c.-64+379T>C single nucleotide variant Lung cancer [RCV000100183] Chr16:66830468 [GRCh38]
Chr16:66864371 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1
pathogenic
1 to 10 of 82 rows

Predicted Target Of
Summary Value
Count of predictions:2584
Count of miRNA genes:976
Interacting mature miRNAs:1166
Transcripts:ENST00000290810, ENST00000359087, ENST00000379463, ENST00000394074, ENST00000561579, ENST00000562074, ENST00000562428, ENST00000562757, ENST00000563185, ENST00000563221, ENST00000563253, ENST00000563419, ENST00000564040, ENST00000565535, ENST00000566336, ENST00000566663, ENST00000567521, ENST00000567743, ENST00000568672, ENST00000569348, ENST00000569388, ENST00000569963
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.

Cda01h11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371666,836,838 - 66,836,941UniSTSGRCh37
Build 361665,394,339 - 65,394,442RGDNCBI36
Celera1651,345,148 - 51,345,251RGD
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map16q22UniSTS
HuRef1652,710,987 - 52,711,090UniSTS
GeneMap99-GB4 RH Map16406.77UniSTS
NCBI RH Map16508.6UniSTS
RH65010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371666,849,133 - 66,849,268UniSTSGRCh37
Build 361665,406,634 - 65,406,769RGDNCBI36
Celera1651,357,443 - 51,357,578RGD
Cytogenetic Map16q22UniSTS
HuRef1652,723,290 - 52,723,425UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 25 of 25 rows
RefSeq Transcripts NM_001018159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC044802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY197612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM045535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM785899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC212129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 25 of 25 rows

Ensembl Acc Id: ENST00000290810   ⟹   ENSP00000290810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,878 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000359087   ⟹   ENSP00000351990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,875 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000379463   ⟹   ENSP00000368776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,880 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000394074   ⟹   ENSP00000377637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,912 - 66,830,955 (-)Ensembl
Ensembl Acc Id: ENST00000561579   ⟹   ENSP00000464119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,817,470 - 66,873,256 (-)Ensembl
Ensembl Acc Id: ENST00000562074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,805,630 - 66,808,694 (-)Ensembl
Ensembl Acc Id: ENST00000562428   ⟹   ENSP00000463546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,875 - 66,808,548 (-)Ensembl
Ensembl Acc Id: ENST00000562757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,823,342 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000563185   ⟹   ENSP00000454506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,817,434 - 66,830,973 (-)Ensembl
Ensembl Acc Id: ENST00000563221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,880 - 66,806,069 (-)Ensembl
Ensembl Acc Id: ENST00000563253   ⟹   ENSP00000454471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,816,647 - 66,830,959 (-)Ensembl
Ensembl Acc Id: ENST00000563419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,824,516 - 66,830,960 (-)Ensembl
Ensembl Acc Id: ENST00000564040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,818,633 - 66,830,963 (-)Ensembl
Ensembl Acc Id: ENST00000565535   ⟹   ENSP00000455967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,823,230 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000566336   ⟹   ENSP00000462040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,821,456 - 66,830,917 (-)Ensembl
Ensembl Acc Id: ENST00000566663   ⟹   ENSP00000462937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,878 - 66,810,413 (-)Ensembl
Ensembl Acc Id: ENST00000567521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,813,129 - 66,816,716 (-)Ensembl
Ensembl Acc Id: ENST00000567743   ⟹   ENSP00000455562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,816,614 - 66,830,968 (-)Ensembl
Ensembl Acc Id: ENST00000568672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,802,880 - 66,806,145 (-)Ensembl
Ensembl Acc Id: ENST00000569348   ⟹   ENSP00000456564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,823,281 - 66,830,976 (-)Ensembl
Ensembl Acc Id: ENST00000569388   ⟹   ENSP00000456847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,821,446 - 66,830,977 (-)Ensembl
Ensembl Acc Id: ENST00000569963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1666,826,099 - 66,830,976 (-)Ensembl
RefSeq Acc Id: NM_001018159   ⟹   NP_001018169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,802,878 - 66,830,976 (-)NCBI
GRCh371666,836,781 - 66,864,880 (-)NCBI
Build 361665,394,282 - 65,422,380 (-)NCBI Archive
HuRef1652,710,930 - 52,739,089 (-)ENTREZGENE
CHM1_11668,243,864 - 68,271,962 (-)NCBI
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001018160   ⟹   NP_001018170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,802,878 - 66,830,976 (-)NCBI
GRCh371666,836,781 - 66,864,880 (-)NCBI
Build 361665,394,282 - 65,422,380 (-)NCBI Archive
HuRef1652,710,930 - 52,739,089 (-)ENTREZGENE
CHM1_11668,243,864 - 68,271,962 (-)NCBI
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286500   ⟹   NP_001273429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,802,878 - 66,830,976 (-)NCBI
HuRef1652,710,930 - 52,739,089 (-)NCBI
CHM1_11668,243,864 - 68,271,962 (-)NCBI
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003905   ⟹   NP_003896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,802,878 - 66,830,976 (-)NCBI
GRCh371666,836,781 - 66,864,880 (-)NCBI
Build 361665,394,282 - 65,422,380 (-)NCBI Archive
HuRef1652,710,930 - 52,739,089 (-)ENTREZGENE
CHM1_11668,243,864 - 68,271,962 (-)NCBI
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434835   ⟹   XP_047290791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,802,878 - 66,830,976 (-)NCBI
RefSeq Acc Id: XM_054314261   ⟹   XP_054170236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01672,597,172 - 72,625,270 (-)NCBI
1 to 5 of 20 rows
1 to 5 of 20 rows
RefSeq Acc Id: NP_001018170   ⟸   NM_001018160
- Peptide Label: isoform c
- UniProtKB: Q13564 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003896   ⟸   NM_003905
- Peptide Label: isoform a
- UniProtKB: B2R700 (UniProtKB/Swiss-Prot),   A8MU28 (UniProtKB/Swiss-Prot),   A6NFN4 (UniProtKB/Swiss-Prot),   A6NCK0 (UniProtKB/Swiss-Prot),   B3KUP9 (UniProtKB/Swiss-Prot),   Q13564 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018169   ⟸   NM_001018159
- Peptide Label: isoform b
- UniProtKB: Q13564 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273429   ⟸   NM_001286500
- Peptide Label: isoform d
- UniProtKB: Q13564 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000351990   ⟸   ENST00000359087
Name Modeler Protein Id AA Range Protein Structure
AF-Q13564-F1-model_v2 AlphaFold Q13564 1-534 view protein structure

RGD ID:6792964
Promoter ID:HG_KWN:23989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359087,   NM_001018159,   NM_001018160,   OTTHUMT00000268832,   UC010CDW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361665,422,094 - 65,422,594 (-)MPROMDB
RGD ID:6853178
Promoter ID:EP74410
Type:initiation region
Name:HS_APPBP1
Description:Amyloid beta precursor protein binding protein 1, 59kDa.
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 361665,422,380 - 65,422,440EPD
RGD ID:7232445
Promoter ID:EPDNEW_H21968
Type:initiation region
Name:NAE1_1
Description:NEDD8 activating enzyme E1 subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381666,830,959 - 66,831,019EPDNEW


1 to 40 of 49 rows
Database
Acc Id
Source(s)
COSMIC NAE1 COSMIC
Ensembl Genes ENSG00000159593 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000290810 ENTREZGENE
  ENST00000290810.8 UniProtKB/Swiss-Prot
  ENST00000359087 ENTREZGENE
  ENST00000359087.8 UniProtKB/Swiss-Prot
  ENST00000379463 ENTREZGENE
  ENST00000379463.6 UniProtKB/Swiss-Prot
  ENST00000394074 ENTREZGENE
  ENST00000394074.6 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
GTEx ENSG00000159593 GTEx
HGNC ID HGNC:621 ENTREZGENE
Human Proteome Map NAE1 Human Proteome Map
InterPro APP-BP1 UniProtKB/Swiss-Prot
  ThiF/MoeB/HesA UniProtKB/Swiss-Prot
  ThiF_NAD_FAD-bd UniProtKB/Swiss-Prot
  Ubiquitin-activating_enz UniProtKB/Swiss-Prot
KEGG Report hsa:8883 UniProtKB/Swiss-Prot
NCBI Gene 8883 ENTREZGENE
OMIM 603385 OMIM
PANTHER NEDD8-ACTIVATING ENZYME E1 REGULATORY SUBUNIT UniProtKB/Swiss-Prot
  PTHR10953 UniProtKB/Swiss-Prot
Pfam ThiF UniProtKB/Swiss-Prot
PharmGKB PA162396730 PharmGKB
PIRSF APP-BP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF69572 UniProtKB/Swiss-Prot
UniProt A6NCK0 ENTREZGENE
  A6NFN4 ENTREZGENE
  A8MU28 ENTREZGENE
  B2R700 ENTREZGENE
  B3KUP9 ENTREZGENE
  H3BMN8_HUMAN UniProtKB/TrEMBL
  H3BMR3_HUMAN UniProtKB/TrEMBL
  H3BQ16_HUMAN UniProtKB/TrEMBL
  H3BQW6_HUMAN UniProtKB/TrEMBL
  H3BS69_HUMAN UniProtKB/TrEMBL
  H3BSS8_HUMAN UniProtKB/TrEMBL
  J3KRK3_HUMAN UniProtKB/TrEMBL
  J3KTE3_HUMAN UniProtKB/TrEMBL
1 to 40 of 49 rows