SUMO1 (small ubiquitin like modifier 1) - Rat Genome Database

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Gene: SUMO1 (small ubiquitin like modifier 1) Homo sapiens
Analyze
Symbol: SUMO1
Name: small ubiquitin like modifier 1
RGD ID: 1315807
HGNC Page HGNC
Description: Enables enzyme binding activity and potassium channel regulator activity. Involved in several processes, including negative regulation of transport; protein stabilization; and protein sumoylation. Located in nucleus and plasma membrane. Colocalizes with PML body and voltage-gated potassium channel complex. Implicated in orofacial cleft 10.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DAP-1; DAP1; GAP modifying protein 1; GMP1; OFC10; PIC1; SENP2; sentrin; small ubiquitin-like modifier 1; small ubiquitin-related modifier 1; SMT3; SMT3 homolog 3; SMT3 suppressor of mif two 3 homolog 1; smt3 suppressor of mif two 3 homolog 1 (yeast); SMT3C; SMT3H3; SUMO-1; ubiquitin-homology domain protein PIC1; ubiquitin-like protein SMT3C; ubiquitin-like protein UBL1; UBL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422227   SUMO1P1   SUMO1P2   SUMO1P3   SUMO1P4   SUMO1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2202,206,182 - 202,238,599 (-)EnsemblGRCh38hg38GRCh38
GRCh382202,206,171 - 202,238,597 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372203,070,894 - 203,103,320 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,779,148 - 202,811,567 (-)NCBINCBI36hg18NCBI36
Build 342202,896,408 - 202,928,828NCBI
Celera2196,822,670 - 196,855,115 (-)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2194,919,783 - 194,951,410 (-)NCBIHuRef
CHM1_12203,077,457 - 203,109,867 (-)NCBICHM1_1
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
(R)-lipoic acid  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
Antimony trioxide  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
Chorionic gonadotropin  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
daidzein  (EXP)
daidzein 7-O-beta-D-glucoside  (EXP)
diallyl disulfide  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dimethyl sulfoxide  (EXP)
dimethylarsinous acid  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
genistein 7-O-beta-D-glucoside  (EXP)
Ginkgoic acid  (ISO)
glycitein  (EXP)
glycitin  (EXP)
hinokiflavone  (EXP)
lead nitrate  (ISO)
lipoic acid  (EXP)
maneb  (ISO)
mevinphos  (ISO)
mifepristone  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nocodazole  (EXP)
NS-398  (EXP)
ozone  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
pentobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quinomethionate  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
rotenone  (EXP,ISO)
SB 203580  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8806687   PMID:8812453   PMID:8889548   PMID:8906799   PMID:8921390   PMID:8978815   PMID:9019411   PMID:9119407   PMID:9162015   PMID:9353268   PMID:9412458   PMID:9442102  
PMID:9452416   PMID:9465300   PMID:9654451   PMID:9658103   PMID:9734360   PMID:9740801   PMID:9756909   PMID:9885291   PMID:9891849   PMID:9920803   PMID:10187798   PMID:10212234  
PMID:10217437   PMID:10535925   PMID:10574707   PMID:10655495   PMID:10666456   PMID:10694430   PMID:10759568   PMID:10788439   PMID:10799485   PMID:10862613   PMID:10871618   PMID:10961991  
PMID:10964520   PMID:11078523   PMID:11080164   PMID:11112409   PMID:11129635   PMID:11278381   PMID:11313457   PMID:11384992   PMID:11420669   PMID:11500040   PMID:11514557   PMID:11583632  
PMID:11709553   PMID:11716541   PMID:11731474   PMID:11735126   PMID:11739688   PMID:11792325   PMID:11842245   PMID:11867732   PMID:11889051   PMID:11901159   PMID:11907324   PMID:11948183  
PMID:11960997   PMID:11997515   PMID:12032081   PMID:12060666   PMID:12072434   PMID:12144530   PMID:12149243   PMID:12150977   PMID:12161447   PMID:12177000   PMID:12192048   PMID:12193561  
PMID:12200128   PMID:12223491   PMID:12297306   PMID:12354770   PMID:12383504   PMID:12388818   PMID:12393906   PMID:12419227   PMID:12439742   PMID:12477932   PMID:12511558   PMID:12526767  
PMID:12529333   PMID:12552083   PMID:12565818   PMID:12590135   PMID:12606074   PMID:12615929   PMID:12621041   PMID:12626745   PMID:12631292   PMID:12633878   PMID:12646186   PMID:12663783  
PMID:12665592   PMID:12679040   PMID:12727872   PMID:12740389   PMID:12761214   PMID:12769861   PMID:12782728   PMID:12788062   PMID:12810706   PMID:12832072   PMID:12855578   PMID:12924945  
PMID:14500712   PMID:14500761   PMID:14514699   PMID:14516784   PMID:14527952   PMID:14559918   PMID:14563852   PMID:14609633   PMID:14637113   PMID:14673145   PMID:14752048   PMID:14992729  
PMID:15016812   PMID:15037602   PMID:15064418   PMID:15123615   PMID:15123625   PMID:15161980   PMID:15220454   PMID:15229220   PMID:15272016   PMID:15296745   PMID:15337742   PMID:15355965  
PMID:15456902   PMID:15465032   PMID:15469925   PMID:15487983   PMID:15489334   PMID:15507114   PMID:15539951   PMID:15546615   PMID:15569683   PMID:15572661   PMID:15576338   PMID:15592428  
PMID:15608651   PMID:15613319   PMID:15637059   PMID:15660128   PMID:15707587   PMID:15723079   PMID:15782135   PMID:15788563   PMID:15815621   PMID:15823533   PMID:15848177   PMID:15857832  
PMID:15881673   PMID:15882793   PMID:15882978   PMID:15896780   PMID:15907800   PMID:15923626   PMID:15931224   PMID:15952105   PMID:15958389   PMID:15959518   PMID:15983381   PMID:16029420  
PMID:16055710   PMID:16098147   PMID:16112644   PMID:16117725   PMID:16120648   PMID:16122737   PMID:16125395   PMID:16142216   PMID:16154161   PMID:16169070   PMID:16189514   PMID:16204249  
PMID:16352666   PMID:16415059   PMID:16421094   PMID:16428449   PMID:16428803   PMID:16428860   PMID:16442531   PMID:16443219   PMID:16460827   PMID:16464864   PMID:16475184   PMID:16478538  
PMID:16478998   PMID:16484498   PMID:16494873   PMID:16501610   PMID:16524884   PMID:16553580   PMID:16563226   PMID:16568089   PMID:16600910   PMID:16608850   PMID:16626738   PMID:16631117  
PMID:16651613   PMID:16678795   PMID:16690127   PMID:16712526   PMID:16732283   PMID:16760465   PMID:16763556   PMID:16791210   PMID:16904644   PMID:16955485   PMID:16990542   PMID:17000644  
PMID:17000875   PMID:17005699   PMID:17027752   PMID:17036045   PMID:17060459   PMID:17081983   PMID:17081985   PMID:17081986   PMID:17097055   PMID:17099698   PMID:17099700   PMID:17164289  
PMID:17264123   PMID:17314004   PMID:17320104   PMID:17344210   PMID:17353931   PMID:17360386   PMID:17391059   PMID:17428805   PMID:17466333   PMID:17491593   PMID:17498654   PMID:17509614  
PMID:17535915   PMID:17548468   PMID:17671677   PMID:17696781   PMID:17704809   PMID:17823119   PMID:17848550   PMID:17932034   PMID:17938407   PMID:17942705   PMID:17956732   PMID:17976381  
PMID:18025037   PMID:18063693   PMID:18093978   PMID:18211901   PMID:18264111   PMID:18359863   PMID:18404132   PMID:18408014   PMID:18408734   PMID:18500350   PMID:18538659   PMID:18579533  
PMID:18592385   PMID:18617892   PMID:18656483   PMID:18660489   PMID:18684836   PMID:18691969   PMID:18694876   PMID:18706886   PMID:18707152   PMID:18762900   PMID:18806873   PMID:18820298  
PMID:18836734   PMID:18978678   PMID:18983974   PMID:19029252   PMID:19041634   PMID:19111660   PMID:19217413   PMID:19223394   PMID:19246003   PMID:19251700   PMID:19287951   PMID:19297320  
PMID:19380586   PMID:19384898   PMID:19407830   PMID:19416967   PMID:19497852   PMID:19565496   PMID:19596686   PMID:19680224   PMID:19684601   PMID:19744555   PMID:19779455   PMID:19785004  
PMID:19843541   PMID:19859084   PMID:19889771   PMID:19913121   PMID:19917317   PMID:19919826   PMID:19937600   PMID:19955185   PMID:19956565   PMID:20016594   PMID:20016603   PMID:20098713  
PMID:20145208   PMID:20164921   PMID:20209145   PMID:20224576   PMID:20300531   PMID:20360068   PMID:20414307   PMID:20467437   PMID:20498050   PMID:20501649   PMID:20519406   PMID:20533263  
PMID:20534433   PMID:20537536   PMID:20543865   PMID:20544801   PMID:20555024   PMID:20584900   PMID:20616536   PMID:20628086   PMID:20634891   PMID:20661221   PMID:20671745   PMID:20711444  
PMID:20738159   PMID:20797634   PMID:20802522   PMID:20881090   PMID:20927612   PMID:20932933   PMID:21039605   PMID:21044801   PMID:21047957   PMID:21057547   PMID:21084637   PMID:21123177  
PMID:21145359   PMID:21148299   PMID:21174150   PMID:21187340   PMID:21189065   PMID:21192925   PMID:21212807   PMID:21242980   PMID:21268066   PMID:21284855   PMID:21288202   PMID:21308649  
PMID:21336309   PMID:21383010   PMID:21454548   PMID:21474068   PMID:21490953   PMID:21516116   PMID:21527745   PMID:21545853   PMID:21563299   PMID:21641618   PMID:21642969   PMID:21683690  
PMID:21722636   PMID:21779164   PMID:21811235   PMID:21873635   PMID:21878624   PMID:21880768   PMID:21900893   PMID:21931855   PMID:21949651   PMID:21957283   PMID:21965678   PMID:21968017  
PMID:21983723   PMID:21988832   PMID:22153967   PMID:22164242   PMID:22194619   PMID:22227369   PMID:22234371   PMID:22374677   PMID:22379092   PMID:22398289   PMID:22403398   PMID:22406621  
PMID:22555612   PMID:22578841   PMID:22586270   PMID:22612509   PMID:22651256   PMID:22658674   PMID:22713753   PMID:22731716   PMID:22748127   PMID:22751501   PMID:22863883   PMID:22875967  
PMID:22878415   PMID:22895527   PMID:22905217   PMID:22939629   PMID:22975420   PMID:23077236   PMID:23078246   PMID:23086935   PMID:23092970   PMID:23152501   PMID:23160374   PMID:23211528  
PMID:23229893   PMID:23243001   PMID:23350884   PMID:23369348   PMID:23382880   PMID:23383273   PMID:23395904   PMID:23407422   PMID:23414517   PMID:23530056   PMID:23543742   PMID:23546875  
PMID:23686912   PMID:23825024   PMID:23871147   PMID:23990779   PMID:23996296   PMID:24046452   PMID:24072711   PMID:24151981   PMID:24174529   PMID:24286314   PMID:24309115   PMID:24344134  
PMID:24352468   PMID:24362530   PMID:24434214   PMID:24637324   PMID:24651376   PMID:24654937   PMID:24656128   PMID:24711643   PMID:24753249   PMID:24819975   PMID:24844634   PMID:24907272  
PMID:24942926   PMID:24953629   PMID:24999758   PMID:25074923   PMID:25111678   PMID:25114211   PMID:25118297   PMID:25133527   PMID:25183729   PMID:25210186   PMID:25241153   PMID:25378699  
PMID:25380826   PMID:25391294   PMID:25409927   PMID:25416956   PMID:25447205   PMID:25484073   PMID:25497731   PMID:25502805   PMID:25533188   PMID:25586181   PMID:25693804   PMID:25800734  
PMID:25867063   PMID:25880753   PMID:25910212   PMID:26060329   PMID:26212320   PMID:26223657   PMID:26244656   PMID:26264872   PMID:26344197   PMID:26400283   PMID:26403314   PMID:26449956  
PMID:26496610   PMID:26549688   PMID:26563097   PMID:26578773   PMID:26748714   PMID:26831064   PMID:26850942   PMID:26867680   PMID:26871637   PMID:26949251   PMID:26993772   PMID:27032383  
PMID:27068747   PMID:27084229   PMID:27129204   PMID:27195426   PMID:27230680   PMID:27558965   PMID:27576863   PMID:27684187   PMID:27799292   PMID:27926873   PMID:28055018   PMID:28222440  
PMID:28275011   PMID:28298427   PMID:28538147   PMID:28553222   PMID:28582471   PMID:28630323   PMID:28770955   PMID:28805822   PMID:28846114   PMID:28851805   PMID:29061306   PMID:29070839  
PMID:29138839   PMID:29180619   PMID:29352251   PMID:29393359   PMID:29509190   PMID:29511261   PMID:29588524   PMID:29634367   PMID:29656893   PMID:29777712   PMID:30082317   PMID:30184152  
PMID:30355233   PMID:30393970   PMID:30439429   PMID:30562482   PMID:30681271   PMID:30755814   PMID:30804502   PMID:30824543   PMID:30926672   PMID:30935967   PMID:30948266   PMID:30948704  
PMID:30958586   PMID:31091453   PMID:31125786   PMID:31180492   PMID:31417085   PMID:31462741   PMID:31476572   PMID:31489957   PMID:31515488   PMID:31527615   PMID:31536960   PMID:31578236  
PMID:31586073   PMID:31587348   PMID:31722399   PMID:31796536   PMID:31879127   PMID:31914638   PMID:32001251   PMID:32070068   PMID:32176739   PMID:32296183   PMID:32413267   PMID:32416067  
PMID:32483411   PMID:32592588   PMID:32706448   PMID:32780723   PMID:32783654   PMID:32786267   PMID:32807901   PMID:32814053   PMID:33181633   PMID:34079125   PMID:34247369   PMID:34310804  


Genomics

Comparative Map Data
SUMO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2202,206,182 - 202,238,599 (-)EnsemblGRCh38hg38GRCh38
GRCh382202,206,171 - 202,238,597 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372203,070,894 - 203,103,320 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,779,148 - 202,811,567 (-)NCBINCBI36hg18NCBI36
Build 342202,896,408 - 202,928,828NCBI
Celera2196,822,670 - 196,855,115 (-)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2194,919,783 - 194,951,410 (-)NCBIHuRef
CHM1_12203,077,457 - 203,109,867 (-)NCBICHM1_1
Sumo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,678,593 - 59,709,993 (-)NCBIGRCm39mm39
GRCm39 Ensembl159,625,717 - 59,709,993 (-)Ensembl
GRCm38159,639,434 - 59,670,834 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,586,558 - 59,670,834 (-)EnsemblGRCm38mm10GRCm38
MGSCv37159,696,278 - 59,727,678 (-)NCBIGRCm37mm9NCBIm37
MGSCv36159,583,983 - 59,615,355 (-)NCBImm8
Celera160,154,082 - 60,185,562 (-)NCBICelera
Cytogenetic Map1C2NCBI
Sumo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2961,078,790 - 61,108,697 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl961,077,435 - 61,108,761 (-)Ensembl
Rnor_6.0966,453,428 - 66,483,614 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl966,453,438 - 66,483,614 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0966,258,853 - 66,288,103 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4958,212,538 - 58,242,760 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1958,359,520 - 58,389,742 (-)NCBI
Celera958,513,570 - 58,543,459 (-)NCBICelera
Cytogenetic Map9q31NCBI
Sumo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545712,538,480 - 12,565,803 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545712,538,974 - 12,565,803 (+)NCBIChiLan1.0ChiLan1.0
SUMO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B207,613,649 - 207,645,590 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B207,613,654 - 207,645,590 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B89,461,773 - 89,493,879 (-)NCBIMhudiblu_PPA_v0panPan3
SUMO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13711,199,937 - 11,229,743 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3711,200,590 - 11,229,754 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3712,083,987 - 12,113,143 (-)NCBI
ROS_Cfam_1.03711,136,626 - 11,165,785 (-)NCBI
UMICH_Zoey_3.13711,087,432 - 11,116,739 (-)NCBI
UNSW_CanFamBas_1.03711,065,890 - 11,095,045 (-)NCBI
UU_Cfam_GSD_1.03711,059,162 - 11,088,313 (-)NCBI
Sumo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303159,432,685 - 159,443,682 (-)NCBI
SpeTri2.0NW_0049367261,402,977 - 1,413,974 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SUMO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15105,815,281 - 105,850,943 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115105,820,237 - 105,850,099 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215117,249,291 - 117,249,369 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SUMO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11087,917,324 - 87,957,152 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040111,440,837 - 111,472,603 (+)NCBIVero_WHO_p1.0
Sumo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476514,205,071 - 14,229,864 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH26240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,104,347 - 203,104,480UniSTSGRCh37
Build 362202,812,592 - 202,812,725RGDNCBI36
Celera2196,856,140 - 196,856,273RGD
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7q33UniSTS
HuRef2194,952,435 - 194,952,568UniSTS
SHGC-82097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,086,466 - 203,086,778UniSTSGRCh37
Build 362202,794,711 - 202,795,023RGDNCBI36
Celera2196,838,261 - 196,838,573RGD
Cytogenetic Map2q33UniSTS
HuRef2194,934,558 - 194,934,870UniSTS
GDB:451559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,104,318 - 203,104,425UniSTSGRCh37
GRCh377135,357,512 - 135,358,903UniSTSGRCh37
Build 362202,812,563 - 202,812,670RGDNCBI36
Celera2196,856,111 - 196,856,218RGD
Celera7130,094,971 - 130,096,362UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map2q33.1UniSTS
HuRef2194,952,406 - 194,952,513UniSTS
HuRef7129,660,307 - 129,661,698UniSTS
CRA_TCAGchr7v27134,701,938 - 134,703,329UniSTS
A007E47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,070,993 - 203,071,094UniSTSGRCh37
Build 362202,779,238 - 202,779,339RGDNCBI36
Celera2196,822,760 - 196,822,861RGD
Cytogenetic Map2q33UniSTS
HuRef2194,919,873 - 194,919,974UniSTS
GeneMap99-GB4 RH Map2628.34UniSTS
NCBI RH Map21520.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2150
Count of miRNA genes:495
Interacting mature miRNAs:535
Transcripts:ENST00000392244, ENST00000392245, ENST00000392246, ENST00000409181, ENST00000409205, ENST00000409368, ENST00000409498, ENST00000409627, ENST00000409712, ENST00000469034
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 13
Medium 2439 2859 1725 623 1896 464 4357 2122 3724 417 1447 1613 175 1 1203 2788 6 2
Low 132 1 1 54 1 75 10 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA401634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI815216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG503431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG569821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ930026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU532734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U61397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U67122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392244   ⟹   ENSP00000376075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,768 - 202,238,566 (-)Ensembl
RefSeq Acc Id: ENST00000392245   ⟹   ENSP00000376076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,187 - 202,238,599 (-)Ensembl
RefSeq Acc Id: ENST00000392246   ⟹   ENSP00000376077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,182 - 202,238,597 (-)Ensembl
RefSeq Acc Id: ENST00000409181   ⟹   ENSP00000386753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,870 - 202,238,569 (-)Ensembl
RefSeq Acc Id: ENST00000409205   ⟹   ENSP00000386267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,207,031 - 202,238,462 (-)Ensembl
RefSeq Acc Id: ENST00000409368   ⟹   ENSP00000387204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,650 - 202,238,594 (-)Ensembl
RefSeq Acc Id: ENST00000409498   ⟹   ENSP00000386472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,207,008 - 202,238,586 (-)Ensembl
RefSeq Acc Id: ENST00000409627   ⟹   ENSP00000386500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,207,142 - 202,238,566 (-)Ensembl
RefSeq Acc Id: ENST00000409712   ⟹   ENSP00000386296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,206,851 - 202,238,576 (-)Ensembl
RefSeq Acc Id: ENST00000469034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2202,207,246 - 202,222,006 (-)Ensembl
RefSeq Acc Id: NM_001005781   ⟹   NP_001005781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
GRCh372203,070,903 - 203,103,322 (-)ENTREZGENE
Build 362202,779,148 - 202,811,567 (-)NCBI Archive
HuRef2194,919,783 - 194,951,410 (-)ENTREZGENE
CHM1_12203,077,457 - 203,109,867 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001005782   ⟹   NP_001005782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
GRCh372203,070,903 - 203,103,322 (-)ENTREZGENE
Build 362202,779,148 - 202,811,567 (-)NCBI Archive
HuRef2194,919,783 - 194,951,410 (-)ENTREZGENE
CHM1_12203,077,457 - 203,109,867 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371392   ⟹   NP_001358321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
RefSeq Acc Id: NM_001371393   ⟹   NP_001358322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
RefSeq Acc Id: NM_001371394   ⟹   NP_001358323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
RefSeq Acc Id: NM_003352   ⟹   NP_003343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,182 - 202,238,597 (-)NCBI
GRCh372203,070,903 - 203,103,322 (-)ENTREZGENE
Build 362202,779,148 - 202,811,567 (-)NCBI Archive
HuRef2194,919,783 - 194,951,410 (-)ENTREZGENE
CHM1_12203,077,457 - 203,109,867 (-)NCBI
Sequence:
RefSeq Acc Id: NR_163943
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,206,171 - 202,238,597 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001005782   ⟸   NM_001005782
- Peptide Label: isoform b
- UniProtKB: P63165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005781   ⟸   NM_001005781
- Peptide Label: isoform a precursor
- UniProtKB: P63165 (UniProtKB/Swiss-Prot),   A0A024R3Z2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003343   ⟸   NM_003352
- Peptide Label: isoform a precursor
- UniProtKB: P63165 (UniProtKB/Swiss-Prot),   A0A024R3Z2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358321   ⟸   NM_001371392
- Peptide Label: isoform d
RefSeq Acc Id: NP_001358322   ⟸   NM_001371393
- Peptide Label: isoform e
RefSeq Acc Id: NP_001358323   ⟸   NM_001371394
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000376076   ⟸   ENST00000392245
RefSeq Acc Id: ENSP00000376075   ⟸   ENST00000392244
RefSeq Acc Id: ENSP00000376077   ⟸   ENST00000392246
RefSeq Acc Id: ENSP00000386500   ⟸   ENST00000409627
RefSeq Acc Id: ENSP00000386296   ⟸   ENST00000409712
RefSeq Acc Id: ENSP00000387204   ⟸   ENST00000409368
RefSeq Acc Id: ENSP00000386472   ⟸   ENST00000409498
RefSeq Acc Id: ENSP00000386753   ⟸   ENST00000409181
RefSeq Acc Id: ENSP00000386267   ⟸   ENST00000409205
Protein Domains
Rad60-SLD   Ubiquitin-like

Promoters
RGD ID:6862560
Promoter ID:EPDNEW_H4445
Type:initiation region
Name:SUMO1_1
Description:small ubiquitin-like modifier 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
GRCh382202,238,564 - 202,238,624EPDNEW
RGD ID:6798299
Promoter ID:HG_KWN:36752
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000327878
Position:
Human AssemblyChrPosition (strand)Source
Build 362202,794,686 - 202,795,186 (-)MPROMDB
RGD ID:6797211
Promoter ID:HG_KWN:36754
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409181,   ENST00000409205,   ENST00000409368,   ENST00000409498,   ENST00000409712,   NM_001005781,   NM_001005782,   OTTHUMT00000256312,   OTTHUMT00000327875,   OTTHUMT00000327877
Position:
Human AssemblyChrPosition (strand)Source
Build 362202,811,081 - 202,811,737 (-)MPROMDB
RGD ID:6853462
Promoter ID:EP74556
Type:initiation region
Name:HS_UBL1
Description:Ubiquitin-like 1 (sentrin).
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 362202,811,534 - 202,811,594EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SUMO1, DEL deletion Orofacial cleft 10 [RCV000008068] Chr2:2q32.2-q33 pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 copy number gain See cases [RCV000134147] Chr2:201674160..202308811 [GRCh38]
Chr2:202538883..203173534 [GRCh37]
Chr2:202247128..202881779 [NCBI36]
Chr2:2q33.1
uncertain significance
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
NM_003352.8(SUMO1):c.88-17_88-11del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000347865] Chr2:202214445..202214451 [GRCh38]
Chr2:203079168..203079174 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.*884A>G single nucleotide variant Orofacial cleft 10 [RCV000286893] Chr2:202206369 [GRCh38]
Chr2:203071092 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.*545G>T single nucleotide variant Orofacial cleft 10 [RCV000378053] Chr2:202206708 [GRCh38]
Chr2:203071431 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.*944G>C single nucleotide variant Orofacial cleft 10 [RCV000379139] Chr2:202206309 [GRCh38]
Chr2:203071032 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.-32T>G single nucleotide variant Orofacial cleft 10 [RCV000402256] Chr2:202238483 [GRCh38]
Chr2:203103206 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_003352.8(SUMO1):c.*475A>G single nucleotide variant Orofacial cleft 10 [RCV000290527] Chr2:202206778 [GRCh38]
Chr2:203071501 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.*724A>G single nucleotide variant Orofacial cleft 10 [RCV000321100] Chr2:202206529 [GRCh38]
Chr2:203071252 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004035] Chr2:202999402..203485750 [GRCh37]
Chr2:2q33.1-33.2
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1-33.2(chr2:203065308-204366776)x3 copy number gain not provided [RCV000740848] Chr2:203065308..204366776 [GRCh37]
Chr2:2q33.1-33.2
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_003352.8(SUMO1):c.*776A>T single nucleotide variant Orofacial cleft 10 [RCV001137408] Chr2:202206477 [GRCh38]
Chr2:203071200 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_003352.8(SUMO1):c.*1038C>T single nucleotide variant Orofacial cleft 10 [RCV001142142] Chr2:202206215 [GRCh38]
Chr2:203070938 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.-48C>T single nucleotide variant Orofacial cleft 10 [RCV001139642] Chr2:202238499 [GRCh38]
Chr2:203103222 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.-83A>G single nucleotide variant Orofacial cleft 10 [RCV001139643] Chr2:202238534 [GRCh38]
Chr2:203103257 [GRCh37]
Chr2:2q33.1
uncertain significance
null single nucleotide variant not provided [RCV001671000] Chr2:202214584 [GRCh38]
Chr2:203079307 [GRCh37]
Chr2:2q33.1
benign
NM_003352.8(SUMO1):c.-94G>A single nucleotide variant Orofacial cleft 10 [RCV001139644] Chr2:202238545 [GRCh38]
Chr2:203103268 [GRCh37]
Chr2:2q33.1
likely benign
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004034] Chr2:202772963..205218660 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
null single nucleotide variant not provided [RCV001670796] Chr2:202238189 [GRCh38]
Chr2:203102912 [GRCh37]
Chr2:2q33.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685093] Chr2:202220266 [GRCh38]
Chr2:203084989 [GRCh37]
Chr2:2q33.1
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708484] Chr2:202238678 [GRCh38]
Chr2:203103401 [GRCh37]
Chr2:2q33.1
benign
NM_003352.8(SUMO1):c.*814G>A single nucleotide variant Orofacial cleft 10 [RCV001137407] Chr2:202206439 [GRCh38]
Chr2:203071162 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.*753C>G single nucleotide variant Orofacial cleft 10 [RCV001137409] Chr2:202206500 [GRCh38]
Chr2:203071223 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_003352.8(SUMO1):c.88-8C>T single nucleotide variant Orofacial cleft 10 [RCV001137410] Chr2:202214442 [GRCh38]
Chr2:203079165 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12502 AgrOrtholog
COSMIC SUMO1 COSMIC
Ensembl Genes ENSG00000116030 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000376075 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376076 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386267 UniProtKB/TrEMBL
  ENSP00000386296 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000386472 UniProtKB/TrEMBL
  ENSP00000386500 UniProtKB/TrEMBL
  ENSP00000386753 UniProtKB/TrEMBL
  ENSP00000387204 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392244 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392246 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409181 UniProtKB/TrEMBL
  ENST00000409205 UniProtKB/TrEMBL
  ENST00000409368 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000409498 UniProtKB/TrEMBL
  ENST00000409627 UniProtKB/TrEMBL
  ENST00000409712 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000116030 GTEx
HGNC ID HGNC:12502 ENTREZGENE
Human Proteome Map SUMO1 Human Proteome Map
InterPro Rad60/SUMO-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_dom UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:7341 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7341 ENTREZGENE
OMIM 601912 OMIM
  613705 OMIM
Pfam Rad60-SLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37149 PharmGKB
PROSITE UBIQUITIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART UBQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3Z2 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZ67_HUMAN UniProtKB/TrEMBL
  B8ZZJ0_HUMAN UniProtKB/TrEMBL
  B8ZZN6_HUMAN UniProtKB/TrEMBL
  B9A032_HUMAN UniProtKB/TrEMBL
  F8WBI1_HUMAN UniProtKB/TrEMBL
  P63165 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MUS8 UniProtKB/Swiss-Prot
  B2R4I5 UniProtKB/Swiss-Prot
  P55856 UniProtKB/Swiss-Prot
  Q6FGG0 UniProtKB/Swiss-Prot
  Q6NZ62 UniProtKB/Swiss-Prot
  Q93068 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 SUMO1  small ubiquitin like modifier 1    small ubiquitin-like modifier 1  Symbol and/or name change 5135510 APPROVED
2013-06-11 SUMO1  small ubiquitin-like modifier 1    SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-16 SUMO1  SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)  SUMO1  SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED