PSMD4 (proteasome 26S subunit ubiquitin receptor, non-ATPase 4) - Rat Genome Database

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Gene: PSMD4 (proteasome 26S subunit ubiquitin receptor, non-ATPase 4) Homo sapiens
Analyze
Symbol: PSMD4
Name: proteasome 26S subunit ubiquitin receptor, non-ATPase 4
RGD ID: 734297
HGNC Page HGNC:9561
Description: Enables identical protein binding activity and molecular adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol and nucleoplasm. Part of proteasome complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 26S protease subunit S5a; 26S proteasome non-ATPase regulatory subunit 4; 26S proteasome regulatory subunit RPN10; 26S proteasome regulatory subunit S5A; AF; AF-1; angiocidin; antisecretory factor 1; ASF; MCB1; multiubiquitin chain binding protein; multiubiquitin chain-binding protein; proteasome (prosome, macropain) 26S subunit, non-ATPase, 4; proteasome (prosome, macropain) 26s subunit, non-atpase,4; proteasome 26S subunit, non-ATPase 4; pUB-R5; Rpn10; RPN10 homolog; S5A; S5a/antisecretory factor protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PSMD4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381151,254,734 - 151,267,479 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1151,254,709 - 151,267,479 (+)EnsemblGRCh38hg38GRCh38
GRCh371151,227,210 - 151,239,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,493,821 - 149,506,579 (+)NCBINCBI36Build 36hg18NCBI36
Build 341148,040,269 - 148,053,009NCBI
Celera1124,342,487 - 124,355,245 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1122,605,087 - 122,617,599 (+)NCBIHuRef
CHM1_11152,622,543 - 152,635,314 (+)NCBICHM1_1
T2T-CHM13v2.01150,378,457 - 150,391,195 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
Brodifacoum  (ISO)
butyric acid  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
hydralazine  (EXP)
ivermectin  (EXP)
L-ethionine  (ISO)
lactacystin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
leflunomide  (ISO)
methidathion  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
patulin  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
quinoline  (EXP)
selenium atom  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3524692   PMID:7657640   PMID:8570649   PMID:8641424   PMID:8811196   PMID:9079628   PMID:9235903   PMID:9488668   PMID:9811770   PMID:9846577   PMID:10488153   PMID:10505793  
PMID:10799514   PMID:10893419   PMID:10921894   PMID:11146632   PMID:11285280   PMID:11585840   PMID:11827521   PMID:12095625   PMID:12167863   PMID:12419264   PMID:12477932   PMID:12601813  
PMID:12634850   PMID:12719574   PMID:12750511   PMID:12791267   PMID:12808465   PMID:12808466   PMID:12809610   PMID:12830140   PMID:12832454   PMID:12840737   PMID:12859895   PMID:12914693  
PMID:12920286   PMID:12970176   PMID:12970355   PMID:14527406   PMID:14528300   PMID:14528301   PMID:14550573   PMID:14557549   PMID:14557625   PMID:14564014   PMID:14585839   PMID:14614829  
PMID:14621999   PMID:14759258   PMID:15029244   PMID:15095410   PMID:15147878   PMID:15280365   PMID:15340068   PMID:15345747   PMID:15358145   PMID:15362974   PMID:15489334   PMID:15610744  
PMID:15826667   PMID:16007098   PMID:16105547   PMID:16171779   PMID:16189514   PMID:16222312   PMID:16227581   PMID:16239144   PMID:16497222   PMID:16678104   PMID:16710414   PMID:16759355  
PMID:16762342   PMID:16815440   PMID:16862145   PMID:16990800   PMID:17082820   PMID:17139257   PMID:17323924   PMID:17327906   PMID:17353931   PMID:17368669   PMID:17392787   PMID:17408689  
PMID:17459097   PMID:17500595   PMID:17573772   PMID:17646385   PMID:17662948   PMID:17891176   PMID:17949686   PMID:18079109   PMID:18164080   PMID:18207252   PMID:18485873   PMID:18632645  
PMID:18836575   PMID:18922472   PMID:18976975   PMID:19013454   PMID:19193609   PMID:19240029   PMID:19285159   PMID:19349277   PMID:19387488   PMID:19412159   PMID:19489727   PMID:19490896  
PMID:19519434   PMID:19589775   PMID:19615732   PMID:19650074   PMID:19683493   PMID:19781552   PMID:19796170   PMID:19798103   PMID:19815544   PMID:19875440   PMID:19931242   PMID:20007692  
PMID:20029029   PMID:20059542   PMID:20195357   PMID:20417181   PMID:20473970   PMID:20479273   PMID:20526895   PMID:20542005   PMID:20614012   PMID:20682791   PMID:20804422   PMID:20810900  
PMID:20936779   PMID:21145461   PMID:21348451   PMID:21628408   PMID:21628461   PMID:21653829   PMID:21832049   PMID:21855799   PMID:21873635   PMID:21988832   PMID:22268729   PMID:22350919  
PMID:22434192   PMID:22517668   PMID:22645313   PMID:22658674   PMID:22659184   PMID:22661229   PMID:22797925   PMID:22810586   PMID:22863883   PMID:22906049   PMID:22921402   PMID:22939629  
PMID:22990118   PMID:23209776   PMID:23212908   PMID:23254330   PMID:23314748   PMID:23402259   PMID:23438482   PMID:23459205   PMID:23503661   PMID:23515276   PMID:23649778   PMID:23751493  
PMID:23861750   PMID:23940030   PMID:23966401   PMID:24074603   PMID:24121268   PMID:24196352   PMID:24250289   PMID:24256120   PMID:24429290   PMID:24743594   PMID:24807418   PMID:24811749  
PMID:24829148   PMID:24981860   PMID:25036637   PMID:25118285   PMID:25260751   PMID:25318673   PMID:25633294   PMID:25659154   PMID:25666615   PMID:25897558   PMID:25921289   PMID:26186194  
PMID:26205498   PMID:26344197   PMID:26476452   PMID:26496610   PMID:26527279   PMID:26618866   PMID:26638075   PMID:26831064   PMID:26903513   PMID:26972000   PMID:27025967   PMID:27033953  
PMID:27114451   PMID:27214791   PMID:27428775   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27705803   PMID:27768934   PMID:27880917   PMID:28075048   PMID:28082312   PMID:28190767  
PMID:28276505   PMID:28292943   PMID:28330616   PMID:28396413   PMID:28514442   PMID:28539385   PMID:28581483   PMID:28675297   PMID:28685749   PMID:28821611   PMID:28988533   PMID:29053956  
PMID:29128334   PMID:29180619   PMID:29180628   PMID:29265188   PMID:29290612   PMID:29331416   PMID:29378950   PMID:29426014   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061  
PMID:29636472   PMID:29656893   PMID:29666234   PMID:29845934   PMID:29872149   PMID:29955894   PMID:29966650   PMID:29997244   PMID:30033366   PMID:30126895   PMID:30196744   PMID:30254168  
PMID:30257870   PMID:30287686   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30585729   PMID:30659753   PMID:30664872   PMID:30673593   PMID:30745168   PMID:30833792   PMID:30930224  
PMID:30948266   PMID:31046837   PMID:31059266   PMID:31067453   PMID:31091453   PMID:31162820   PMID:31175912   PMID:31235931   PMID:31239290   PMID:31343991   PMID:31467278   PMID:31586073  
PMID:31640799   PMID:31647545   PMID:31699778   PMID:31732153   PMID:31740976   PMID:31775559   PMID:31901637   PMID:32129710   PMID:32157086   PMID:32246052   PMID:32296183   PMID:32457219  
PMID:32545848   PMID:32631902   PMID:32687490   PMID:32694731   PMID:32698014   PMID:32707033   PMID:32723828   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32829060   PMID:32842143  
PMID:32877691   PMID:32994395   PMID:33111431   PMID:33226137   PMID:33239621   PMID:33277362   PMID:33306668   PMID:33417871   PMID:33637724   PMID:33665565   PMID:33729478   PMID:33766124  
PMID:33845483   PMID:33916271   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34133712   PMID:34373451   PMID:34597346   PMID:34599178   PMID:34619150   PMID:34709727   PMID:34711951  
PMID:34728620   PMID:34761751   PMID:35008187   PMID:35140242   PMID:35156780   PMID:35256949   PMID:35271311   PMID:35331737   PMID:35338135   PMID:35439318   PMID:35509820   PMID:35530310  
PMID:35676246   PMID:35687106   PMID:35777956   PMID:35831314   PMID:35914814   PMID:35944360   PMID:35987950   PMID:36012204   PMID:36042349   PMID:36114006   PMID:36180527   PMID:36215168  
PMID:36424410   PMID:36543142   PMID:36597993   PMID:36610398   PMID:36827983   PMID:36861887   PMID:36912080   PMID:37336868   PMID:37616343   PMID:37689310   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
PSMD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381151,254,734 - 151,267,479 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1151,254,709 - 151,267,479 (+)EnsemblGRCh38hg38GRCh38
GRCh371151,227,210 - 151,239,955 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,493,821 - 149,506,579 (+)NCBINCBI36Build 36hg18NCBI36
Build 341148,040,269 - 148,053,009NCBI
Celera1124,342,487 - 124,355,245 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1122,605,087 - 122,617,599 (+)NCBIHuRef
CHM1_11152,622,543 - 152,635,314 (+)NCBICHM1_1
T2T-CHM13v2.01150,378,457 - 150,391,195 (+)NCBIT2T-CHM13v2.0
Psmd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39394,939,999 - 94,949,880 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl394,940,005 - 94,949,925 (-)EnsemblGRCm39 Ensembl
GRCm38395,032,688 - 95,042,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,032,694 - 95,042,614 (-)EnsemblGRCm38mm10GRCm38
MGSCv37394,836,627 - 94,846,467 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36395,118,109 - 95,127,949 (-)NCBIMGSCv36mm8
Celera396,463,952 - 96,473,791 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map340.74NCBI
Psmd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82185,287,941 - 185,297,238 (-)NCBIGRCr8
mRatBN7.22182,598,934 - 182,608,250 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2182,598,934 - 182,608,194 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2190,263,615 - 190,272,886 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02188,059,515 - 188,068,785 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02182,896,092 - 182,905,363 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02196,198,303 - 196,207,569 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2196,198,038 - 196,207,560 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02215,692,987 - 215,702,253 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42189,933,161 - 189,942,421 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12189,892,568 - 189,903,313 (-)NCBI
Celera2175,140,978 - 175,150,251 (-)NCBICelera
Cytogenetic Map2q34NCBI
Psmd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955588607,289 - 618,040 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955588607,763 - 618,040 (+)NCBIChiLan1.0ChiLan1.0
PSMD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2198,566,214 - 98,578,993 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1198,317,447 - 98,330,226 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01126,603,753 - 126,616,553 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11130,251,323 - 130,264,257 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1130,251,323 - 130,264,256 (+)Ensemblpanpan1.1panPan2
PSMD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11760,306,134 - 60,313,610 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1760,306,229 - 60,313,610 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1759,749,765 - 59,757,144 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01761,322,307 - 61,329,783 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1761,322,391 - 61,329,776 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11760,151,041 - 60,158,407 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01760,236,561 - 60,243,942 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01760,964,850 - 60,972,228 (+)NCBIUU_Cfam_GSD_1.0
Psmd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505822,426,796 - 22,439,898 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365801,456,958 - 1,471,303 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365801,457,232 - 1,470,274 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl497,994,065 - 98,004,688 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1497,994,060 - 98,004,727 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24107,246,846 - 107,257,503 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q21-q23NCBI
PSMD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12012,424,557 - 12,434,929 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603811,999,288 - 12,012,694 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477218,600,021 - 18,610,014 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477218,600,021 - 18,609,887 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMD4
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1 copy number loss See cases [RCV000138949] Chr1:150989333..151584777 [GRCh38]
Chr1:150961809..151557253 [GRCh37]
Chr1:149228433..149823877 [NCBI36]
Chr1:1q21.3
likely pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:151179825-151377786)x1 copy number loss See cases [RCV000447867] Chr1:151179825..151377786 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002810.4(PSMD4):c.750G>A (p.Thr250=) single nucleotide variant not provided [RCV000960003] Chr1:151266099 [GRCh38]
Chr1:151238575 [GRCh37]
Chr1:1q21.3
benign
NM_002810.4(PSMD4):c.276G>C (p.Val92=) single nucleotide variant not provided [RCV000950370] Chr1:151264022 [GRCh38]
Chr1:151236498 [GRCh37]
Chr1:1q21.3
benign|likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_151122490)_(151585008_?)dup duplication Severe myoclonic epilepsy in infancy [RCV001324071] Chr1:151122490..151585008 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.3(chr1:151179825-151377786) copy number loss not specified [RCV002053614] Chr1:151179825..151377786 [GRCh37]
Chr1:1q21.3
uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1
uncertain significance
NM_002810.4(PSMD4):c.323G>A (p.Arg108His) single nucleotide variant Inborn genetic diseases [RCV002773866] Chr1:151264872 [GRCh38]
Chr1:151237348 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.793A>G (p.Ile265Val) single nucleotide variant Inborn genetic diseases [RCV002853808] Chr1:151266337 [GRCh38]
Chr1:151238813 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.476C>T (p.Thr159Met) single nucleotide variant Inborn genetic diseases [RCV002696796] Chr1:151265431 [GRCh38]
Chr1:151237907 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.163G>T (p.Ala55Ser) single nucleotide variant Inborn genetic diseases [RCV002827681] Chr1:151262297 [GRCh38]
Chr1:151234773 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.688C>T (p.Arg230Trp) single nucleotide variant Inborn genetic diseases [RCV002892955] Chr1:151266037 [GRCh38]
Chr1:151238513 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.406G>A (p.Val136Ile) single nucleotide variant Inborn genetic diseases [RCV002826043] Chr1:151265202 [GRCh38]
Chr1:151237678 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.776C>A (p.Ala259Asp) single nucleotide variant Inborn genetic diseases [RCV002723649] Chr1:151266320 [GRCh38]
Chr1:151238796 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002810.4(PSMD4):c.814C>T (p.Arg272Cys) single nucleotide variant Inborn genetic diseases [RCV002679821] Chr1:151266358 [GRCh38]
Chr1:151238834 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1
pathogenic
NM_002810.4(PSMD4):c.817A>G (p.Thr273Ala) single nucleotide variant Inborn genetic diseases [RCV003373881] Chr1:151266361 [GRCh38]
Chr1:151238837 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR505hsa-miR-505-3pTarbaseexternal_infoReporter GenePOSITIVE
MIR505hsa-miR-505-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR28hsa-miR-28-5pTarbaseexternal_infoReporter GenePOSITIVE
MIR28hsa-miR-28-5pTarbaseexternal_infoWesternblitPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2107
Count of miRNA genes:801
Interacting mature miRNAs:952
Transcripts:ENST00000368881, ENST00000368884, ENST00000427779, ENST00000437736, ENST00000445776, ENST00000453615, ENST00000461434, ENST00000462970, ENST00000469786, ENST00000470396, ENST00000476855, ENST00000491857
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.

Markers in Region
RH36413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,744 - 151,239,861UniSTSGRCh37
Build 361149,506,368 - 149,506,485RGDNCBI36
Celera1124,355,034 - 124,355,151RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,617,388 - 122,617,505UniSTS
GeneMap99-GB4 RH Map1550.22UniSTS
AL033568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,045 - 151,234,124UniSTSGRCh37
Build 361149,500,669 - 149,500,748RGDNCBI36
Celera1124,349,335 - 124,349,414RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,611,689 - 122,611,768UniSTS
ECD00404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,079 - 151,239,987UniSTSGRCh37
Build 361149,505,703 - 149,506,611RGDNCBI36
Celera1124,354,369 - 124,355,277RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,723 - 122,617,631UniSTS
ECD00448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,137 - 151,239,042UniSTSGRCh37
Build 361149,504,761 - 149,505,666RGDNCBI36
Celera1124,353,427 - 124,354,332RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,781 - 122,616,686UniSTS
ECD00830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,157 - 151,238,045UniSTSGRCh37
Build 361149,503,781 - 149,504,669RGDNCBI36
Celera1124,352,447 - 124,353,335RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,801 - 122,615,689UniSTS
ECD05185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,226,935 - 151,227,677UniSTSGRCh37
Build 361149,493,559 - 149,494,301RGDNCBI36
Celera1124,342,225 - 124,342,967RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,604,825 - 122,605,567UniSTS
ECD12824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,561 - 151,235,094UniSTSGRCh37
GRCh3712113,947,830 - 113,948,332UniSTSGRCh37
Build 361149,501,185 - 149,501,718RGDNCBI36
Celera6108,003,428 - 108,003,780UniSTS
Celera1124,349,851 - 124,350,384RGD
Celera12113,574,707 - 113,575,209UniSTS
HuRef12110,957,705 - 110,958,207UniSTS
HuRef1122,612,206 - 122,612,739UniSTS
ECD19039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,339 - 151,236,675UniSTSGRCh37
Build 361149,502,963 - 149,503,299RGDNCBI36
Celera1124,351,629 - 124,351,965RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,613,984 - 122,614,320UniSTS
ECD20532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,235,345 - 151,235,625UniSTSGRCh37
Build 361149,501,969 - 149,502,249RGDNCBI36
Celera1124,350,635 - 124,350,915RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,612,990 - 122,613,270UniSTS
ECD22383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,816 - 151,233,036UniSTSGRCh37
Build 361149,499,440 - 149,499,660RGDNCBI36
Celera1124,348,106 - 124,348,326RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,610,460 - 122,610,680UniSTS
ECD22583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,932 - 151,228,146UniSTSGRCh37
Build 361149,494,556 - 149,494,770RGDNCBI36
Celera1124,343,222 - 124,343,436RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,605,822 - 122,606,036UniSTS
REN33410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,225,204 - 151,225,455UniSTSGRCh37
Build 361149,491,828 - 149,492,079RGDNCBI36
Celera1124,340,494 - 124,340,745RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,603,136 - 122,603,387UniSTS
REN33411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,225,420 - 151,225,684UniSTSGRCh37
Build 361149,492,044 - 149,492,308RGDNCBI36
Celera1124,340,710 - 124,340,974RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,603,352 - 122,603,616UniSTS
REN33412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,225,648 - 151,225,908UniSTSGRCh37
Build 361149,492,272 - 149,492,532RGDNCBI36
Celera1124,340,938 - 124,341,198RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,603,580 - 122,603,840UniSTS
REN33413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,225,894 - 151,226,146UniSTSGRCh37
Build 361149,492,518 - 149,492,770RGDNCBI36
Celera1124,341,184 - 124,341,436RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,603,826 - 122,604,078UniSTS
REN33414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,226,084 - 151,226,308UniSTSGRCh37
Build 361149,492,708 - 149,492,932RGDNCBI36
Celera1124,341,374 - 124,341,598RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,604,016 - 122,604,240UniSTS
REN33415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,226,288 - 151,226,549UniSTSGRCh37
Build 361149,492,912 - 149,493,173RGDNCBI36
Celera1124,341,578 - 124,341,839RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,604,220 - 122,604,439UniSTS
REN33416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,226,947 - 151,227,188UniSTSGRCh37
Build 361149,493,571 - 149,493,812RGDNCBI36
Celera1124,342,237 - 124,342,478RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,604,837 - 122,605,078UniSTS
REN33417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,062 - 151,227,299UniSTSGRCh37
Build 361149,493,686 - 149,493,923RGDNCBI36
Celera1124,342,352 - 124,342,589RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,604,952 - 122,605,189UniSTS
REN33418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,273 - 151,227,530UniSTSGRCh37
Build 361149,493,897 - 149,494,154RGDNCBI36
Celera1124,342,563 - 124,342,820RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,605,163 - 122,605,420UniSTS
REN33419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,511 - 151,227,735UniSTSGRCh37
Build 361149,494,135 - 149,494,359RGDNCBI36
Celera1124,342,801 - 124,343,025RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,605,401 - 122,605,625UniSTS
REN33420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,717 - 151,227,968UniSTSGRCh37
Build 361149,494,341 - 149,494,592RGDNCBI36
Celera1124,343,007 - 124,343,258RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,605,607 - 122,605,858UniSTS
REN33421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,961 - 151,228,194UniSTSGRCh37
Build 361149,494,585 - 149,494,818RGDNCBI36
Celera1124,343,251 - 124,343,484RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,605,851 - 122,606,084UniSTS
REN33422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,228,180 - 151,228,441UniSTSGRCh37
Build 361149,494,804 - 149,495,065RGDNCBI36
Celera1124,343,470 - 124,343,731RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,606,070 - 122,606,331UniSTS
REN33423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,228,404 - 151,228,632UniSTSGRCh37
Build 361149,495,028 - 149,495,256RGDNCBI36
Celera1124,343,694 - 124,343,922RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,606,294 - 122,606,523UniSTS
REN33424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,229,547 - 151,229,772UniSTSGRCh37
Build 361149,496,171 - 149,496,396RGDNCBI36
Celera1124,344,837 - 124,345,062RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,607,190 - 122,607,415UniSTS
REN33425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,229,748 - 151,230,009UniSTSGRCh37
Build 361149,496,372 - 149,496,633RGDNCBI36
Celera1124,345,038 - 124,345,299RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,607,391 - 122,607,652UniSTS
REN33426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,229,793 - 151,230,017UniSTSGRCh37
Build 361149,496,417 - 149,496,641RGDNCBI36
Celera1124,345,083 - 124,345,307RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,607,436 - 122,607,660UniSTS
REN33427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,230,903 - 151,231,152UniSTSGRCh37
Build 361149,497,527 - 149,497,776RGDNCBI36
Celera1124,346,193 - 124,346,442RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,608,547 - 122,608,796UniSTS
REN33428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,179 - 151,231,416UniSTSGRCh37
Build 361149,497,803 - 149,498,040RGDNCBI36
Celera1124,346,469 - 124,346,706RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,608,823 - 122,609,060UniSTS
REN33429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,394 - 151,231,620UniSTSGRCh37
Build 361149,498,018 - 149,498,244RGDNCBI36
Celera1124,346,684 - 124,346,910RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,609,038 - 122,609,264UniSTS
REN33430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,587 - 151,231,845UniSTSGRCh37
Build 361149,498,211 - 149,498,469RGDNCBI36
Celera1124,346,877 - 124,347,135RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,609,231 - 122,609,489UniSTS
REN33431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,817 - 151,232,070UniSTSGRCh37
Build 361149,498,441 - 149,498,694RGDNCBI36
Celera1124,347,107 - 124,347,360RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,609,461 - 122,609,714UniSTS
REN33432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,939 - 151,232,175UniSTSGRCh37
Build 361149,498,563 - 149,498,799RGDNCBI36
Celera1124,347,229 - 124,347,465RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,609,583 - 122,609,819UniSTS
REN33433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,134 - 151,232,402UniSTSGRCh37
Build 361149,498,758 - 149,499,026RGDNCBI36
Celera1124,347,424 - 124,347,692RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,609,778 - 122,610,046UniSTS
REN33434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,534 - 151,232,776UniSTSGRCh37
Build 361149,499,158 - 149,499,400RGDNCBI36
Celera1124,347,824 - 124,348,066RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,610,178 - 122,610,420UniSTS
REN33435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,774 - 151,233,020UniSTSGRCh37
Build 361149,499,398 - 149,499,644RGDNCBI36
Celera1124,348,064 - 124,348,310RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,610,418 - 122,610,664UniSTS
REN33436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,833 - 151,233,077UniSTSGRCh37
Build 361149,499,457 - 149,499,701RGDNCBI36
Celera1124,348,123 - 124,348,367RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,610,477 - 122,610,721UniSTS
REN33437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,233,302 - 151,233,552UniSTSGRCh37
Build 361149,499,926 - 149,500,176RGDNCBI36
Celera1124,348,592 - 124,348,842RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,610,946 - 122,611,196UniSTS
REN33438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,233,804 - 151,234,032UniSTSGRCh37
Build 361149,500,428 - 149,500,656RGDNCBI36
Celera1124,349,094 - 124,349,322RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,611,448 - 122,611,676UniSTS
REN33439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,027 - 151,234,258UniSTSGRCh37
Build 361149,500,651 - 149,500,882RGDNCBI36
Celera1124,349,317 - 124,349,548RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,611,671 - 122,611,902UniSTS
REN33440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,240 - 151,234,491UniSTSGRCh37
Build 361149,500,864 - 149,501,115RGDNCBI36
Celera1124,349,530 - 124,349,781RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,611,884 - 122,612,136UniSTS
REN33441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,482 - 151,234,735UniSTSGRCh37
Build 361149,501,106 - 149,501,359RGDNCBI36
Celera1124,349,772 - 124,350,025RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,612,127 - 122,612,380UniSTS
REN33442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,704 - 151,234,972UniSTSGRCh37
Build 361149,501,328 - 149,501,596RGDNCBI36
Celera1124,349,994 - 124,350,262RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,612,349 - 122,612,617UniSTS
REN33443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,956 - 151,235,195UniSTSGRCh37
Build 361149,501,580 - 149,501,819RGDNCBI36
Celera1124,350,246 - 124,350,485RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,612,601 - 122,612,840UniSTS
REN33444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,235,172 - 151,235,431UniSTSGRCh37
Build 361149,501,796 - 149,502,055RGDNCBI36
Celera1124,350,462 - 124,350,721RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,612,817 - 122,613,076UniSTS
REN33445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,235,418 - 151,235,670UniSTSGRCh37
Build 361149,502,042 - 149,502,294RGDNCBI36
Celera1124,350,708 - 124,350,960RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,613,063 - 122,613,315UniSTS
REN33446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,235,578 - 151,235,828UniSTSGRCh37
Build 361149,502,202 - 149,502,452RGDNCBI36
Celera1124,350,868 - 124,351,118RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,613,223 - 122,613,473UniSTS
REN33447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,235,799 - 151,236,027UniSTSGRCh37
Build 361149,502,423 - 149,502,651RGDNCBI36
Celera1124,351,089 - 124,351,317RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,613,444 - 122,613,672UniSTS
REN33448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,168 - 151,236,393UniSTSGRCh37
Build 361149,502,792 - 149,503,017RGDNCBI36
Celera1124,351,458 - 124,351,683RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,613,813 - 122,614,038UniSTS
REN33449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,389 - 151,236,639UniSTSGRCh37
Build 361149,503,013 - 149,503,263RGDNCBI36
Celera1124,351,679 - 124,351,929RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,034 - 122,614,284UniSTS
REN33450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,562 - 151,236,814UniSTSGRCh37
Build 361149,503,186 - 149,503,438RGDNCBI36
Celera1124,351,852 - 124,352,104RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,207 - 122,614,459UniSTS
REN33451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,754 - 151,236,989UniSTSGRCh37
Build 361149,503,378 - 149,503,613RGDNCBI36
Celera1124,352,044 - 124,352,279RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,399 - 122,614,633UniSTS
REN33452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,901 - 151,237,138UniSTSGRCh37
Build 361149,503,525 - 149,503,762RGDNCBI36
Celera1124,352,191 - 124,352,428RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,545 - 122,614,782UniSTS
REN33453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,120 - 151,237,347UniSTSGRCh37
Build 361149,503,744 - 149,503,971RGDNCBI36
Celera1124,352,410 - 124,352,637RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,764 - 122,614,991UniSTS
REN33454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,323 - 151,237,564UniSTSGRCh37
Build 361149,503,947 - 149,504,188RGDNCBI36
Celera1124,352,613 - 124,352,854RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,614,967 - 122,615,208UniSTS
REN33455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,541 - 151,237,778UniSTSGRCh37
Build 361149,504,165 - 149,504,402RGDNCBI36
Celera1124,352,831 - 124,353,068RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,185 - 122,615,422UniSTS
REN33456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,761 - 151,238,004UniSTSGRCh37
Build 361149,504,385 - 149,504,628RGDNCBI36
Celera1124,353,051 - 124,353,294RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,405 - 122,615,648UniSTS
REN33457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,984 - 151,238,217UniSTSGRCh37
Build 361149,504,608 - 149,504,841RGDNCBI36
Celera1124,353,274 - 124,353,507RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,628 - 122,615,861UniSTS
REN33458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,194 - 151,238,449UniSTSGRCh37
Build 361149,504,818 - 149,505,073RGDNCBI36
Celera1124,353,484 - 124,353,739RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,838 - 122,616,093UniSTS
REN33459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,386 - 151,238,651UniSTSGRCh37
Build 361149,505,010 - 149,505,275RGDNCBI36
Celera1124,353,676 - 124,353,941RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,030 - 122,616,295UniSTS
REN33460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,631 - 151,238,883UniSTSGRCh37
Build 361149,505,255 - 149,505,507RGDNCBI36
Celera1124,353,921 - 124,354,173RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,275 - 122,616,527UniSTS
REN33461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,865 - 151,239,121UniSTSGRCh37
Build 361149,505,489 - 149,505,745RGDNCBI36
Celera1124,354,155 - 124,354,411RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,509 - 122,616,765UniSTS
REN33462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,081 - 151,239,322UniSTSGRCh37
Build 361149,505,705 - 149,505,946RGDNCBI36
Celera1124,354,371 - 124,354,612RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,725 - 122,616,966UniSTS
REN33463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,292 - 151,239,551UniSTSGRCh37
Build 361149,505,916 - 149,506,175RGDNCBI36
Celera1124,354,582 - 124,354,841RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,616,936 - 122,617,195UniSTS
REN33464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,530 - 151,239,762UniSTSGRCh37
Build 361149,506,154 - 149,506,386RGDNCBI36
Celera1124,354,820 - 124,355,052RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,617,174 - 122,617,406UniSTS
REN33465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,733 - 151,239,982UniSTSGRCh37
Build 361149,506,357 - 149,506,606RGDNCBI36
Celera1124,355,023 - 124,355,272RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,617,377 - 122,617,626UniSTS
REN33466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,959 - 151,240,201UniSTSGRCh37
Build 361149,506,583 - 149,506,825RGDNCBI36
Celera1124,355,249 - 124,355,491RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,617,603 - 122,617,845UniSTS
REN33467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,240,148 - 151,240,413UniSTSGRCh37
Build 361149,506,772 - 149,507,037RGDNCBI36
Celera1124,355,438 - 124,355,703RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,617,792 - 122,618,057UniSTS
stSG627057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,106 - 151,228,115UniSTSGRCh37
Build 361149,493,730 - 149,494,739RGDNCBI36
Celera1124,342,396 - 124,343,405RGD
HuRef1122,604,996 - 122,606,005UniSTS
stSG627058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,227,703 - 151,228,907UniSTSGRCh37
Build 361149,494,327 - 149,495,531RGDNCBI36
Celera1124,342,993 - 124,344,197RGD
stSG627059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,231,664 - 151,232,729UniSTSGRCh37
Build 361149,498,288 - 149,499,353RGDNCBI36
Celera1124,346,954 - 124,348,019RGD
HuRef1122,609,308 - 122,610,373UniSTS
stSG627060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,232,838 - 151,234,075UniSTSGRCh37
Build 361149,499,462 - 149,500,699RGDNCBI36
Celera1124,348,128 - 124,349,365RGD
HuRef1122,610,482 - 122,611,719UniSTS
stSG627061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,234,059 - 151,235,094UniSTSGRCh37
Build 361149,500,683 - 149,501,718RGDNCBI36
Celera1124,349,349 - 124,350,384RGD
HuRef1122,611,703 - 122,612,739UniSTS
stSG627063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,236,546 - 151,237,669UniSTSGRCh37
Build 361149,503,170 - 149,504,293RGDNCBI36
Celera1124,351,836 - 124,352,959RGD
HuRef1122,614,191 - 122,615,313UniSTS
stSG627064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,237,650 - 151,238,686UniSTSGRCh37
Build 361149,504,274 - 149,505,310RGDNCBI36
Celera1124,352,940 - 124,353,976RGD
Cytogenetic Map1q21.3UniSTS
HuRef1122,615,294 - 122,616,330UniSTS
stSG627065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,238,670 - 151,239,881UniSTSGRCh37
Build 361149,505,294 - 149,506,505RGDNCBI36
Celera1124,353,960 - 124,355,171RGD
HuRef1122,616,314 - 122,617,525UniSTS
RH26962  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map1q21.3UniSTS
SHGC-52120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371151,239,029 - 151,239,743UniSTSGRCh37
Celera1124,354,319 - 124,355,033UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
HuRef1089,345,448 - 89,345,577UniSTS
HuRef1122,616,673 - 122,617,387UniSTS
TNG Radiation Hybrid Map1044890.0UniSTS


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 1 1 3 1
Medium 2439 2979 1725 623 1951 464 4357 2185 3734 418 1457 1612 175 1 1204 2788 6 2
Low 12 12 1
Below cutoff

Sequence


RefSeq Acc Id: ENST00000368881   ⟹   ENSP00000357876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,254,709 - 151,267,459 (+)Ensembl
RefSeq Acc Id: ENST00000368884   ⟹   ENSP00000357879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,254,734 - 151,267,479 (+)Ensembl
RefSeq Acc Id: ENST00000427779   ⟹   ENSP00000406408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,266,038 - 151,267,460 (+)Ensembl
RefSeq Acc Id: ENST00000437736   ⟹   ENSP00000414499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,259,063 - 151,265,609 (+)Ensembl
RefSeq Acc Id: ENST00000445776   ⟹   ENSP00000388089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,264,888 - 151,267,466 (+)Ensembl
RefSeq Acc Id: ENST00000453615   ⟹   ENSP00000396633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,266,544 - 151,267,460 (+)Ensembl
RefSeq Acc Id: ENST00000461434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,254,758 - 151,262,910 (+)Ensembl
RefSeq Acc Id: ENST00000462970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,254,763 - 151,265,588 (+)Ensembl
RefSeq Acc Id: ENST00000469786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,262,560 - 151,264,939 (+)Ensembl
RefSeq Acc Id: ENST00000470396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,266,308 - 151,266,725 (+)Ensembl
RefSeq Acc Id: ENST00000476855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,254,769 - 151,267,232 (+)Ensembl
RefSeq Acc Id: ENST00000491857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1151,265,244 - 151,266,098 (+)Ensembl
RefSeq Acc Id: NM_001330692   ⟹   NP_001317621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,254,734 - 151,267,460 (+)NCBI
T2T-CHM13v2.01150,378,457 - 150,391,176 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002810   ⟹   NP_002801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381151,254,734 - 151,267,479 (+)NCBI
GRCh371151,227,176 - 151,239,955 (+)NCBI
Build 361149,493,821 - 149,506,579 (+)NCBI Archive
HuRef1122,605,087 - 122,617,599 (+)ENTREZGENE
CHM1_11152,622,543 - 152,635,314 (+)NCBI
T2T-CHM13v2.01150,378,457 - 150,391,195 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002801   ⟸   NM_002810
- Peptide Label: isoform 2
- UniProtKB: Q5VWC5 (UniProtKB/Swiss-Prot),   D3DV16 (UniProtKB/Swiss-Prot),   Q9NS92 (UniProtKB/Swiss-Prot),   P55036 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317621   ⟸   NM_001330692
- Peptide Label: isoform 1
- UniProtKB: Q5VWC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000414499   ⟸   ENST00000437736
RefSeq Acc Id: ENSP00000406408   ⟸   ENST00000427779
RefSeq Acc Id: ENSP00000396633   ⟸   ENST00000453615
RefSeq Acc Id: ENSP00000388089   ⟸   ENST00000445776
RefSeq Acc Id: ENSP00000357879   ⟸   ENST00000368884
RefSeq Acc Id: ENSP00000357876   ⟸   ENST00000368881
Protein Domains
UIM   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55036-F1-model_v2 AlphaFold P55036 1-377 view protein structure

Promoters
RGD ID:6786333
Promoter ID:HG_KWN:5006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000034409,   OTTHUMT00000034412,   OTTHUMT00000034414,   OTTHUMT00000104809,   UC001EXN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361149,493,691 - 149,494,191 (+)MPROMDB
RGD ID:6857060
Promoter ID:EPDNEW_H1695
Type:initiation region
Name:PSMD4_1
Description:proteasome 26S subunit, non-ATPase 4
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
GRCh381151,254,745 - 151,254,805EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9561 AgrOrtholog
COSMIC PSMD4 COSMIC
Ensembl Genes ENSG00000159352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368881 ENTREZGENE
  ENST00000368881.8 UniProtKB/TrEMBL
  ENST00000368884 ENTREZGENE
  ENST00000368884.8 UniProtKB/Swiss-Prot
  ENST00000427779.5 UniProtKB/TrEMBL
  ENST00000437736.5 UniProtKB/TrEMBL
  ENST00000445776.1 UniProtKB/TrEMBL
  ENST00000453615.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.300.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159352 GTEx
HGNC ID HGNC:9561 ENTREZGENE
Human Proteome Map PSMD4 Human Proteome Map
InterPro PSMD4_RAZUL-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5710 UniProtKB/Swiss-Prot
NCBI Gene 5710 ENTREZGENE
OMIM 601648 OMIM
PANTHER 26S PROTEASOME NON-ATPASE REGULATORY SUBUNIT 4 UniProtKB/Swiss-Prot
  26S PROTEASOME NON-ATPASE REGULATORY SUBUNIT 4 UniProtKB/Swiss-Prot
  26S PROTEASOME NON-ATPASE REGULATORY SUBUNIT 4 UniProtKB/TrEMBL
  26S PROTEASOME NON-ATPASE REGULATORY SUBUNIT 4 UniProtKB/TrEMBL
Pfam UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33907 PharmGKB
PROSITE UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6PVX3_HUMAN UniProtKB/TrEMBL
  D3DV16 ENTREZGENE
  H0Y3Y9_HUMAN UniProtKB/TrEMBL
  H0Y561_HUMAN UniProtKB/TrEMBL
  H7C2J9_HUMAN UniProtKB/TrEMBL
  P55036 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5VWC4 ENTREZGENE, UniProtKB/TrEMBL
  Q5VWC5 ENTREZGENE
  Q9NS92 ENTREZGENE
UniProt Secondary D3DV16 UniProtKB/Swiss-Prot
  Q5VWC5 UniProtKB/Swiss-Prot
  Q9NS92 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-01 PSMD4  proteasome 26S subunit ubiquitin receptor, non-ATPase 4  PSMD4  proteasome 26S subunit, non-ATPase 4  Symbol and/or name change 19259463 PROVISIONAL
2015-08-18 PSMD4  proteasome 26S subunit, non-ATPase 4  PSMD4  proteasome (prosome, macropain) 26S subunit, non-ATPase, 4  Symbol and/or name change 5135510 APPROVED