PSMC4 (proteasome 26S subunit, ATPase 4) - Rat Genome Database

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Gene: PSMC4 (proteasome 26S subunit, ATPase 4) Homo sapiens
Analyze
Symbol: PSMC4
Name: proteasome 26S subunit, ATPase 4
RGD ID: 731556
HGNC Page HGNC:9551
Description: Predicted to enable proteasome-activating activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to act upstream of or within blastocyst development. Located in cytosol and nucleoplasm. Part of proteasome complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 26S protease regulatory subunit 6B; 26S proteasome AAA-ATPase subunit RPT3; 26S proteasome regulatory subunit 6B; MB67 interacting protein; MB67-interacting protein; MGC13687; MGC23214; MGC8570; MIP224; protease 26S subunit 6; proteasome (prosome, macropain) 26S subunit, ATPase, 4; proteasome 26S subunit ATPase 4; RPT3; S6; Tat-binding protein 7; TBP-7; TBP7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,971,165 - 39,981,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,971,165 - 39,981,764 (+)EnsemblGRCh38hg38GRCh38
GRCh371940,477,072 - 40,487,671 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,168,913 - 45,179,193 (+)NCBINCBI36Build 36hg18NCBI36
Build 341945,168,912 - 45,179,191NCBI
Celera1937,275,447 - 37,285,724 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,913,453 - 36,924,135 (+)NCBIHuRef
CHM1_11940,476,958 - 40,487,716 (+)NCBICHM1_1
T2T-CHM13v2.01942,791,375 - 42,801,971 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-methylcholine  (EXP)
2-nitrofluorene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
Brodifacoum  (ISO)
bromobenzene  (ISO)
caffeine  (EXP)
cannabidiol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
disulfiram  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
elesclomol  (EXP)
epoxomicin  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydrogen sulfide  (ISO)
imidacloprid  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (ISO)
maneb  (EXP,ISO)
melatonin  (ISO)
Mesaconitine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
oxidopamine  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rotenone  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
trimellitic anhydride  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zearalenone  (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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2194290   PMID:8060531   PMID:8076819   PMID:8323548   PMID:8419915   PMID:8500623   PMID:8603043   PMID:9079628   PMID:9473509   PMID:9714759   PMID:9811770   PMID:9846577  
PMID:10893419   PMID:11042152   PMID:11285280   PMID:11361004   PMID:11463857   PMID:11779854   PMID:12167863   PMID:12419264   PMID:12477932   PMID:12525503   PMID:12719574   PMID:12750511  
PMID:12791267   PMID:12808465   PMID:12808466   PMID:12809610   PMID:12830140   PMID:12840737   PMID:12859895   PMID:12914693   PMID:12920286   PMID:12970355   PMID:14527406   PMID:14528300  
PMID:14528301   PMID:14550573   PMID:14557625   PMID:14564014   PMID:14614829   PMID:15029244   PMID:15057824   PMID:15489334   PMID:15604093   PMID:15610744   PMID:15773819   PMID:15831487  
PMID:16159877   PMID:16189514   PMID:16196087   PMID:17110338   PMID:17292836   PMID:17314511   PMID:17323924   PMID:17327361   PMID:17353931   PMID:17392787   PMID:17573772   PMID:17786314  
PMID:18029348   PMID:18446261   PMID:18854154   PMID:18922472   PMID:19013454   PMID:19193609   PMID:19412159   PMID:19489727   PMID:19490896   PMID:19615732   PMID:19781552   PMID:19946888  
PMID:20467437   PMID:20562859   PMID:20682791   PMID:20810900   PMID:20843792   PMID:20937828   PMID:21081666   PMID:21145461   PMID:21320693   PMID:21628461   PMID:21630459   PMID:21726808  
PMID:21873635   PMID:21979464   PMID:21988832   PMID:22078707   PMID:22079093   PMID:22212933   PMID:22275368   PMID:22370480   PMID:22645313   PMID:22651796   PMID:22658674   PMID:22810586  
PMID:22863883   PMID:22901813   PMID:22912744   PMID:22939629   PMID:22944692   PMID:23184937   PMID:23212908   PMID:23402259   PMID:23438482   PMID:23443559   PMID:23503661   PMID:24338975  
PMID:24770418   PMID:25147182   PMID:25416956   PMID:25499913   PMID:25515538   PMID:25756610   PMID:25921289   PMID:25940091   PMID:26186194   PMID:26344197   PMID:26466095   PMID:26476452  
PMID:26496610   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26655835   PMID:26725010   PMID:26831064   PMID:26885983   PMID:26972000   PMID:27025967   PMID:27114451   PMID:27173435  
PMID:27342858   PMID:27371349   PMID:27428775   PMID:27545878   PMID:27609421   PMID:27684187   PMID:27705803   PMID:27880911   PMID:27880917   PMID:28190767   PMID:28292943   PMID:28302793  
PMID:28330616   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28539385   PMID:28581483   PMID:28598414   PMID:28675297   PMID:28685749   PMID:28775156   PMID:28821611   PMID:28973437  
PMID:28986522   PMID:29053956   PMID:29128334   PMID:29142217   PMID:29218503   PMID:29229926   PMID:29331416   PMID:29357390   PMID:29426014   PMID:29467282   PMID:29491746   PMID:29507755  
PMID:29599191   PMID:29636472   PMID:29656893   PMID:29666234   PMID:29804830   PMID:29845934   PMID:29863498   PMID:29892012   PMID:29955894   PMID:29979702   PMID:30097533   PMID:30209976  
PMID:30224337   PMID:30257870   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30462309   PMID:30463901   PMID:30575818   PMID:30745168   PMID:30833792   PMID:30890647   PMID:30948266  
PMID:31059266   PMID:31067453   PMID:31073040   PMID:31091453   PMID:31239290   PMID:31659016   PMID:31665637   PMID:31732153   PMID:31740976   PMID:31901637   PMID:31980649   PMID:32129710  
PMID:32157086   PMID:32296183   PMID:32513696   PMID:32552912   PMID:32631902   PMID:32687490   PMID:32780723   PMID:32786267   PMID:32807901   PMID:32812023   PMID:32814053   PMID:32814769  
PMID:32838362   PMID:32842143   PMID:32877691   PMID:32941674   PMID:32963011   PMID:32994395   PMID:33022573   PMID:33060197   PMID:33141564   PMID:33239621   PMID:33277362   PMID:33306668  
PMID:33462405   PMID:33545068   PMID:33567341   PMID:33766124   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34428256   PMID:34599178   PMID:34672954  
PMID:34687317   PMID:34711951   PMID:34728620   PMID:34761751   PMID:34831298   PMID:34901782   PMID:35032548   PMID:35122331   PMID:35140242   PMID:35241646   PMID:35256949   PMID:35271311  
PMID:35338135   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35530310   PMID:35563538   PMID:35676246   PMID:35681168   PMID:35701858   PMID:35777956   PMID:35831314   PMID:35941108  
PMID:35944360   PMID:35987950   PMID:36030824   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36396725   PMID:36424410   PMID:36543142   PMID:36610398  
PMID:36724073   PMID:36774506   PMID:36779763   PMID:37436074   PMID:37536630   PMID:37616343   PMID:37827155   PMID:37974198   PMID:38113892  


Genomics

Comparative Map Data
PSMC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,971,165 - 39,981,764 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,971,165 - 39,981,764 (+)EnsemblGRCh38hg38GRCh38
GRCh371940,477,072 - 40,487,671 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,168,913 - 45,179,193 (+)NCBINCBI36Build 36hg18NCBI36
Build 341945,168,912 - 45,179,191NCBI
Celera1937,275,447 - 37,285,724 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,913,453 - 36,924,135 (+)NCBIHuRef
CHM1_11940,476,958 - 40,487,716 (+)NCBICHM1_1
T2T-CHM13v2.01942,791,375 - 42,801,971 (+)NCBIT2T-CHM13v2.0
Psmc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39727,741,127 - 27,749,517 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl727,741,132 - 27,749,526 (-)EnsemblGRCm39 Ensembl
GRCm38728,041,702 - 28,050,092 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl728,041,707 - 28,050,101 (-)EnsemblGRCm38mm10GRCm38
MGSCv37728,826,721 - 28,835,111 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36727,750,477 - 27,758,803 (-)NCBIMGSCv36mm8
Celera722,608,215 - 22,616,605 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map716.11NCBI
Psmc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8192,476,690 - 92,485,268 (-)NCBIGRCr8
mRatBN7.2183,349,127 - 83,357,497 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl183,348,592 - 83,357,494 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx188,759,384 - 88,767,734 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0197,217,473 - 97,225,843 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0190,515,238 - 90,523,588 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0184,978,220 - 84,986,536 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl184,978,206 - 84,986,581 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0186,194,919 - 86,203,235 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4183,151,149 - 83,159,464 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1183,229,258 - 83,237,575 (-)NCBI
Celera177,748,725 - 77,757,041 (-)NCBICelera
Cytogenetic Map1q21NCBI
Psmc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555781,113,445 - 1,120,370 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555781,113,445 - 1,120,050 (-)NCBIChiLan1.0ChiLan1.0
PSMC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22046,232,549 - 46,243,056 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11948,103,185 - 48,113,698 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01937,018,112 - 37,028,490 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11945,533,141 - 45,543,245 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1945,533,141 - 45,543,245 (+)Ensemblpanpan1.1panPan2
PSMC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,548,351 - 113,557,725 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,548,373 - 113,557,630 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,952,245 - 112,961,621 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01114,148,644 - 114,157,982 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1114,148,650 - 114,157,892 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,707,548 - 113,716,884 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01113,340,335 - 113,349,711 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01114,334,441 - 114,343,783 (-)NCBIUU_Cfam_GSD_1.0
Psmc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934914,094,546 - 14,100,215 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366612,522,615 - 2,528,284 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366612,522,665 - 2,528,279 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl648,406,376 - 48,416,215 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1648,406,237 - 48,414,470 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PSMC4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1634,486,303 - 34,495,392 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl634,486,338 - 34,495,251 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607312,578,624 - 12,587,383 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmc4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624925119,777 - 130,723 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624925119,837 - 127,678 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMC4
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_006503.3(PSMC4):c.126C>T (p.Ser42=) single nucleotide variant Malignant melanoma [RCV000072144] Chr19:39972235 [GRCh38]
Chr19:40478142 [GRCh37]
Chr19:45169982 [NCBI36]
Chr19:19q13.2
not provided
NM_006503.3(PSMC4):c.127C>T (p.Arg43Cys) single nucleotide variant Malignant melanoma [RCV000072145] Chr19:39972236 [GRCh38]
Chr19:40478143 [GRCh37]
Chr19:45169983 [NCBI36]
Chr19:19q13.2
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh37/hg19 19q13.2(chr19:40403192-40694875)x1 copy number loss See cases [RCV000139793] Chr19:40403192..40694875 [GRCh37]
Chr19:45095032..45386715 [NCBI36]
Chr19:19q13.2
likely pathogenic|uncertain significance
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2
pathogenic
GRCh37/hg19 19q13.2(chr19:40374795-40699742)x1 copy number loss See cases [RCV000449084] Chr19:40374795..40699742 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.9:g.(?_39205089)_(40913839_?)dup duplication Type 2 diabetes mellitus [RCV003107444]|not provided [RCV003122562] Chr19:39205089..40913839 [GRCh37]
Chr19:19q13.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2
pathogenic
GRCh37/hg19 19q13.2(chr19:40374795-40699742) copy number loss not specified [RCV002052684] Chr19:40374795..40699742 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_006503.4(PSMC4):c.482A>G (p.Asp161Gly) single nucleotide variant Inborn genetic diseases [RCV002768348] Chr19:39974536 [GRCh38]
Chr19:40480443 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_006503.4(PSMC4):c.557C>T (p.Thr186Met) single nucleotide variant Inborn genetic diseases [RCV003205507] Chr19:39974611 [GRCh38]
Chr19:40480518 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1329
Count of miRNA genes:602
Interacting mature miRNAs:690
Transcripts:ENST00000157812, ENST00000455878, ENST00000593455, ENST00000596386, ENST00000601194, ENST00000601697
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH98237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,487,169 - 40,487,326UniSTSGRCh37
Build 361945,179,009 - 45,179,166RGDNCBI36
Celera1937,285,540 - 37,285,697RGD
Cytogenetic Map19q13.11-q13.13UniSTS
HuRef1936,923,633 - 36,923,790UniSTS
GeneMap99-GB4 RH Map19237.06UniSTS
STS-T26522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,487,112 - 40,487,325UniSTSGRCh37
Build 361945,178,952 - 45,179,165RGDNCBI36
Celera1937,285,483 - 37,285,696RGD
Cytogenetic Map19q13.11-q13.13UniSTS
HuRef1936,923,576 - 36,923,789UniSTS
GeneMap99-GB4 RH Map19234.96UniSTS
NCBI RH Map19420.3UniSTS


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 adipose tissue appendage entire extraembryonic component
High 1 8 1
Medium 2432 2922 1721 620 1929 462 4355 2151 3669 417 1441 1607 171 1204 2788 4
Low 62 2 2 19 2 42 39
Below cutoff 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI828251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U27515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000157812   ⟹   ENSP00000157812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,971,165 - 39,981,764 (+)Ensembl
RefSeq Acc Id: ENST00000455878   ⟹   ENSP00000413869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,971,170 - 39,981,441 (+)Ensembl
RefSeq Acc Id: ENST00000593455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,971,170 - 39,981,408 (+)Ensembl
RefSeq Acc Id: ENST00000596386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,971,192 - 39,980,061 (+)Ensembl
RefSeq Acc Id: ENST00000601194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,979,444 - 39,980,178 (+)Ensembl
RefSeq Acc Id: ENST00000601697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,971,180 - 39,981,441 (+)Ensembl
RefSeq Acc Id: NM_006503   ⟹   NP_006494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,971,165 - 39,981,764 (+)NCBI
GRCh371940,476,912 - 40,487,671 (+)NCBI
Build 361945,168,913 - 45,179,193 (+)NCBI Archive
HuRef1936,913,453 - 36,924,135 (+)NCBI
CHM1_11940,476,958 - 40,487,716 (+)NCBI
T2T-CHM13v2.01942,791,375 - 42,801,971 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153001   ⟹   NP_694546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,971,165 - 39,981,764 (+)NCBI
GRCh371940,476,912 - 40,487,671 (+)NCBI
Build 361945,168,913 - 45,179,193 (+)NCBI Archive
HuRef1936,913,453 - 36,924,135 (+)NCBI
CHM1_11940,476,958 - 40,487,716 (+)NCBI
T2T-CHM13v2.01942,791,375 - 42,801,971 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006494   ⟸   NM_006503
- Peptide Label: isoform 1
- UniProtKB: Q9UBM3 (UniProtKB/Swiss-Prot),   Q96FV5 (UniProtKB/Swiss-Prot),   Q9UEX3 (UniProtKB/Swiss-Prot),   P43686 (UniProtKB/Swiss-Prot),   A8K2M0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_694546   ⟸   NM_153001
- Peptide Label: isoform 2
- UniProtKB: P43686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000413869   ⟸   ENST00000455878
RefSeq Acc Id: ENSP00000157812   ⟸   ENST00000157812
Protein Domains
AAA+ ATPase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43686-F1-model_v2 AlphaFold P43686 1-418 view protein structure

Promoters
RGD ID:7239935
Promoter ID:EPDNEW_H25714
Type:initiation region
Name:PSMC4_1
Description:proteasome 26S subunit, 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
GRCh381939,971,165 - 39,971,225EPDNEW
RGD ID:6795950
Promoter ID:HG_KWN:29926
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:NM_006503,   NM_153001
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,168,436 - 45,168,936 (+)MPROMDB
RGD ID:6851256
Promoter ID:EP73426
Type:initiation region
Name:HS_PSMC4
Description:Proteasome (prosome, macropain) 26S subunit, ATPase, 4 ,transcript variant 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,168,912 - 45,168,972EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9551 AgrOrtholog
COSMIC PSMC4 COSMIC
Ensembl Genes ENSG00000013275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000281221 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000157812 ENTREZGENE
  ENST00000157812.7 UniProtKB/Swiss-Prot
  ENST00000455878 ENTREZGENE
  ENST00000455878.2 UniProtKB/Swiss-Prot
  ENST00000629691.3 UniProtKB/Swiss-Prot
  ENST00000630857.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000013275 GTEx
  ENSG00000281221 GTEx
HGNC ID HGNC:9551 ENTREZGENE
Human Proteome Map PSMC4 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_ATP_ID_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5704 ENTREZGENE
OMIM 602707 OMIM
PANTHER 26S PROTEASOME REGULATORY SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  26S PROTEASOME REGULATORY SUBUNIT 6B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_ATP_ID_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33896 PharmGKB
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2M0 ENTREZGENE, UniProtKB/TrEMBL
  P43686 ENTREZGENE, UniProtKB/Swiss-Prot
  Q96FV5 ENTREZGENE
  Q9UBM3 ENTREZGENE
  Q9UEX3 ENTREZGENE
UniProt Secondary Q96FV5 UniProtKB/Swiss-Prot
  Q9UBM3 UniProtKB/Swiss-Prot
  Q9UEX3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-18 PSMC4  proteasome 26S subunit, ATPase 4    proteasome (prosome, macropain) 26S subunit, ATPase, 4  Symbol and/or name change 5135510 APPROVED