PSMB6 (proteasome 20S subunit beta 6) - Rat Genome Database

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Gene: PSMB6 (proteasome 20S subunit beta 6) Homo sapiens
Analyze
Symbol: PSMB6
Name: proteasome 20S subunit beta 6
RGD ID: 1349289
HGNC Page HGNC:9543
Description: Enables cadherin binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol; mitochondrion; and nucleoplasm. Part of proteasome core complex. Is active in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-1; DELTA; LMPY; macropain delta chain; MGC5169; multicatalytic endopeptidase complex delta chain; proteasome (prosome, macropain) subunit, beta type, 6; proteasome catalytic subunit 1; proteasome delta chain; proteasome subunit beta 6; proteasome subunit beta type-6; proteasome subunit beta-1; proteasome subunit beta1; proteasome subunit delta; proteasome subunit Y; PSY large multifunctional protease Y; Y
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
GRCh38174,796,164 - 4,798,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,796,144 - 4,798,502 (+)EnsemblGRCh38hg38GRCh38
GRCh37174,699,459 - 4,701,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,646,415 - 4,648,748 (+)NCBINCBI36Build 36hg18NCBI36
Build 34174,646,414 - 4,648,746NCBI
Celera174,714,866 - 4,717,199 (+)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,587,894 - 4,590,253 (+)NCBIHuRef
CHM1_1174,708,411 - 4,710,770 (+)NCBICHM1_1
T2T-CHM13v2.0174,686,019 - 4,688,350 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-naphthylamine  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
doxorubicin  (EXP)
epoxomicin  (EXP)
fenthion  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
gentamycin  (ISO)
heparin  (EXP)
hydralazine  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
leflunomide  (ISO)
methidathion  (ISO)
microcystin RR  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nefazodone  (ISO)
nicotine  (EXP)
nimesulide  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
ouabain  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercitrin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
sodium arsenite  (EXP)
stattic  (EXP)
sulforaphane  (EXP)
tetrachloromethane  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
tunicamycin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,TAS)
extracellular exosome  (HDA)
mitochondrion  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (HDA,IBA,IDA,IEA)
proteasome complex  (IDA,IEA,NAS)
proteasome core complex  (IDA,IEA,ISS)
proteasome core complex, beta-subunit complex  (IBA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1888762   PMID:2306472   PMID:7811265   PMID:7820546   PMID:8066462   PMID:8811196   PMID:9079628   PMID:9311996   PMID:9811770   PMID:9846577   PMID:10893419   PMID:11205743  
PMID:11285280   PMID:11745344   PMID:12167863   PMID:12376572   PMID:12388758   PMID:12419264   PMID:12477932   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:14733938   PMID:15029244   PMID:15489334   PMID:15887188   PMID:16169070   PMID:16196087   PMID:17323924   PMID:17948026   PMID:18457437   PMID:18854154  
PMID:18922472   PMID:19013454   PMID:19056867   PMID:19193609   PMID:19489727   PMID:19490893   PMID:19615732   PMID:19738201   PMID:20351267   PMID:20458337   PMID:20661134   PMID:21139048  
PMID:21145461   PMID:21319273   PMID:21320693   PMID:21565611   PMID:21630459   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:21987572   PMID:22119785   PMID:22190034  
PMID:22505724   PMID:22623428   PMID:22645313   PMID:22659184   PMID:22863883   PMID:22939629   PMID:23018640   PMID:23376485   PMID:23503661   PMID:23979707   PMID:24453475   PMID:24816145  
PMID:25468996   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26748699   PMID:26816005   PMID:27114451   PMID:27371349   PMID:27428775   PMID:27497298   PMID:27503909  
PMID:27591049   PMID:27684187   PMID:27705803   PMID:28027390   PMID:28137758   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28700943   PMID:28821611   PMID:29053956  
PMID:29128334   PMID:29229926   PMID:29426014   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29636472   PMID:29845934   PMID:30033366   PMID:30257870   PMID:30425250  
PMID:30455355   PMID:30575818   PMID:30833792   PMID:31046837   PMID:31059266   PMID:31073040   PMID:31091453   PMID:31324722   PMID:31343991   PMID:31594818   PMID:31901637   PMID:31950832  
PMID:31980649   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32460013   PMID:32687490   PMID:32723828   PMID:32814053   PMID:32877691   PMID:32941674   PMID:33567341   PMID:33729478  
PMID:33766124   PMID:33961781   PMID:34373451   PMID:34428256   PMID:34599178   PMID:34711951   PMID:34761751   PMID:34943047   PMID:35032548   PMID:35140242   PMID:35235311   PMID:35271311  
PMID:35338135   PMID:35384245   PMID:35446349   PMID:35474131   PMID:35509820   PMID:35530310   PMID:35562734   PMID:35701858   PMID:35777956   PMID:35780119   PMID:35831314   PMID:35850772  
PMID:35864588   PMID:35906200   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36517590   PMID:36538041   PMID:36610398   PMID:36779763  
PMID:37012049   PMID:37120454   PMID:37167062   PMID:37217651   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37536630   PMID:37616343   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
PSMB6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,796,164 - 4,798,495 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,796,144 - 4,798,502 (+)EnsemblGRCh38hg38GRCh38
GRCh37174,699,459 - 4,701,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,646,415 - 4,648,748 (+)NCBINCBI36Build 36hg18NCBI36
Build 34174,646,414 - 4,648,746NCBI
Celera174,714,866 - 4,717,199 (+)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,587,894 - 4,590,253 (+)NCBIHuRef
CHM1_1174,708,411 - 4,710,770 (+)NCBICHM1_1
T2T-CHM13v2.0174,686,019 - 4,688,350 (+)NCBIT2T-CHM13v2.0
Psmb6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,416,116 - 70,418,684 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,416,193 - 70,418,684 (+)EnsemblGRCm39 Ensembl
GRCm381170,525,324 - 70,527,858 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,525,367 - 70,527,858 (+)EnsemblGRCm38mm10GRCm38
MGSCv371170,338,859 - 70,341,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361170,341,595 - 70,343,844 (+)NCBIMGSCv36mm8
Celera1178,073,676 - 78,076,176 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.99NCBI
Psmb6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,737,852 - 55,740,218 (+)NCBIGRCr8
mRatBN7.21055,239,256 - 55,241,586 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1055,239,241 - 55,241,586 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,919,232 - 59,921,558 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01059,407,737 - 59,410,063 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,906,829 - 54,909,155 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01057,131,339 - 57,133,685 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1057,131,386 - 57,133,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,888,972 - 56,891,279 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41057,370,397 - 57,372,704 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11057,384,019 - 57,386,327 (+)NCBI
Celera1054,385,536 - 54,387,843 (+)NCBICelera
Cytogenetic Map10q24NCBI
Psmb6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546710,220,285 - 10,222,659 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546710,220,435 - 10,222,470 (+)NCBIChiLan1.0ChiLan1.0
PSMB6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21912,404,642 - 12,407,141 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11714,373,150 - 14,375,487 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0174,842,978 - 4,845,321 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1174,832,225 - 4,834,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl174,831,981 - 4,834,549 (+)Ensemblpanpan1.1panPan2
PSMB6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1531,776,286 - 31,778,789 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl531,776,293 - 31,778,682 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha531,915,750 - 31,918,255 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0531,881,502 - 31,884,007 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl531,881,509 - 31,883,900 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1531,847,683 - 31,850,185 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0531,807,355 - 31,809,858 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0531,983,746 - 31,986,251 (-)NCBIUU_Cfam_GSD_1.0
Psmb6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560253,005,091 - 53,007,195 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366772,893,737 - 2,896,380 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366772,893,780 - 2,895,870 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMB6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11252,096,009 - 52,098,164 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,317,056 - 54,319,039 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap12q13NCBI
PSMB6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,272,009 - 4,274,451 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl164,272,081 - 4,274,555 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605917,363,157 - 17,365,516 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psmb6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247868,679,275 - 8,681,773 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247868,679,442 - 8,681,547 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMB6
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|See cases [RCV000054003] Chr17:4141725..4841701 [GRCh38]
Chr17:4045019..4744996 [GRCh37]
Chr17:3991768..4691654 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 copy number gain See cases [RCV000139650] Chr17:4092608..5354473 [GRCh38]
Chr17:3995902..5257768 [GRCh37]
Chr17:3942651..5198492 [NCBI36]
Chr17:17p13.2
likely benign
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3 copy number gain See cases [RCV000143014] Chr17:4141725..4873241 [GRCh38]
Chr17:4045019..4776536 [GRCh37]
Chr17:3991768..4722711 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.2(chr17:4389607-4829150)x3 copy number gain See cases [RCV000448511] Chr17:4389607..4829150 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1 copy number loss See cases [RCV000510443] Chr17:4633847..4856516 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3 copy number gain not provided [RCV000683882] Chr17:4475016..4884701 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3 copy number gain not provided [RCV000683883] Chr17:4633847..4926646 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 copy number gain not provided [RCV000683881] Chr17:4036861..5174346 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_002798.3(PSMB6):c.130G>T (p.Gly44Trp) single nucleotide variant not specified [RCV004291350] Chr17:4796755 [GRCh38]
Chr17:4700050 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_002798.3(PSMB6):c.112A>G (p.Met38Val) single nucleotide variant not specified [RCV004315112] Chr17:4796737 [GRCh38]
Chr17:4700032 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:4113551-5023913) copy number loss not specified [RCV002052580] Chr17:4113551..5023913 [GRCh37]
Chr17:17p13.2
uncertain significance
Single allele duplication 7p22.1 microduplication syndrome [RCV002227783] Chr17:4772213..5119909 [GRCh38]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.221G>A (p.Arg74His) single nucleotide variant not specified [RCV004132954] Chr17:4797488 [GRCh38]
Chr17:4700783 [GRCh37]
Chr17:17p13.2
likely benign
NM_002798.3(PSMB6):c.562C>A (p.Gln188Lys) single nucleotide variant not specified [RCV004147780] Chr17:4798138 [GRCh38]
Chr17:4701433 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3 copy number gain not provided [RCV002475693] Chr17:4658216..5266343 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.481A>G (p.Ile161Val) single nucleotide variant not specified [RCV004200275] Chr17:4798057 [GRCh38]
Chr17:4701352 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.701C>A (p.Ala234Asp) single nucleotide variant not specified [RCV004233493] Chr17:4798403 [GRCh38]
Chr17:4701698 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.25C>T (p.Arg9Trp) single nucleotide variant not specified [RCV004208402] Chr17:4796219 [GRCh38]
Chr17:4699514 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.452G>A (p.Gly151Glu) single nucleotide variant not specified [RCV004275113] Chr17:4798028 [GRCh38]
Chr17:4701323 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12
pathogenic
NM_002798.3(PSMB6):c.697G>A (p.Val233Ile) single nucleotide variant not specified [RCV004343756] Chr17:4798399 [GRCh38]
Chr17:4701694 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
NM_002798.3(PSMB6):c.694G>A (p.Ala232Thr) single nucleotide variant not specified [RCV004513299] Chr17:4798396 [GRCh38]
Chr17:4701691 [GRCh37]
Chr17:17p13.2
likely benign
NM_002798.3(PSMB6):c.209C>G (p.Pro70Arg) single nucleotide variant not specified [RCV004513298] Chr17:4797476 [GRCh38]
Chr17:4700771 [GRCh37]
Chr17:17p13.2
uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1
uncertain significance
NM_002798.3(PSMB6):c.500C>T (p.Ser167Phe) single nucleotide variant not specified [RCV004657735] Chr17:4798076 [GRCh38]
Chr17:4701371 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_002798.3(PSMB6):c.106A>G (p.Thr36Ala) single nucleotide variant not specified [RCV004513297] Chr17:4796731 [GRCh38]
Chr17:4700026 [GRCh37]
Chr17:17p13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:717
Count of miRNA genes:525
Interacting mature miRNAs:580
Transcripts:ENST00000270586, ENST00000571309, ENST00000575079, ENST00000575643
Prediction methods:Microtar, 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
G62058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,701,306 - 4,701,448UniSTSGRCh37
Build 36174,648,264 - 4,648,406RGDNCBI36
Celera174,716,715 - 4,716,857RGD
Cytogenetic Map17p13UniSTS
HuRef174,589,761 - 4,589,903UniSTS
D17S1509E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,700,763 - 4,701,082UniSTSGRCh37
Build 36174,647,721 - 4,648,040RGDNCBI36
Celera174,716,172 - 4,716,491RGD
Cytogenetic Map17p13UniSTS
HuRef174,589,218 - 4,589,537UniSTS
STS-AA009788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,701,413 - 4,701,770UniSTSGRCh37
Build 36174,648,371 - 4,648,728RGDNCBI36
Celera174,716,822 - 4,717,179RGD
Cytogenetic Map17p13UniSTS
HuRef174,589,868 - 4,590,225UniSTS
GeneMap99-GB4 RH Map1743.27UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence


Ensembl Acc Id: ENST00000270586   ⟹   ENSP00000270586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,796,164 - 4,798,495 (+)Ensembl
Ensembl Acc Id: ENST00000571309   ⟹   ENSP00000460811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,796,204 - 4,798,329 (+)Ensembl
Ensembl Acc Id: ENST00000575079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,796,161 - 4,797,174 (+)Ensembl
Ensembl Acc Id: ENST00000575643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,797,684 - 4,798,475 (+)Ensembl
Ensembl Acc Id: ENST00000614486   ⟹   ENSP00000485006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,796,144 - 4,798,502 (+)Ensembl
RefSeq Acc Id: NM_001270481   ⟹   NP_001257410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,796,164 - 4,798,495 (+)NCBI
HuRef174,587,894 - 4,590,253 (+)NCBI
CHM1_1174,708,411 - 4,710,770 (+)NCBI
T2T-CHM13v2.0174,686,019 - 4,688,350 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002798   ⟹   NP_002789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,796,164 - 4,798,495 (+)NCBI
GRCh37174,699,439 - 4,701,798 (+)NCBI
Build 36174,646,415 - 4,648,748 (+)NCBI Archive
HuRef174,587,894 - 4,590,253 (+)NCBI
CHM1_1174,708,411 - 4,710,770 (+)NCBI
T2T-CHM13v2.0174,686,019 - 4,688,350 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002789   ⟸   NM_002798
- Peptide Label: isoform 1
- UniProtKB: Q96J55 (UniProtKB/Swiss-Prot),   P28072 (UniProtKB/Swiss-Prot),   Q6IAT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257410   ⟸   NM_001270481
- Peptide Label: isoform 2
- UniProtKB: A0A087X2I4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000460811   ⟸   ENST00000571309
Ensembl Acc Id: ENSP00000270586   ⟸   ENST00000270586
Ensembl Acc Id: ENSP00000485006   ⟸   ENST00000614486

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28072-F1-model_v2 AlphaFold P28072 1-239 view protein structure

Promoters
RGD ID:6794456
Promoter ID:HG_KWN:24750
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000207559
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,646,226 - 4,646,726 (+)MPROMDB
RGD ID:7233457
Promoter ID:EPDNEW_H22474
Type:initiation region
Name:PSMB6_1
Description:proteasome subunit beta 6
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
GRCh38174,796,164 - 4,796,224EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9543 AgrOrtholog
COSMIC PSMB6 COSMIC
Ensembl Genes ENSG00000142507 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000270586 ENTREZGENE
  ENST00000270586.8 UniProtKB/Swiss-Prot
  ENST00000571309.1 UniProtKB/TrEMBL
  ENST00000614486 ENTREZGENE
  ENST00000614486.4 UniProtKB/TrEMBL
Gene3D-CATH 3.60.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142507 GTEx
HGNC ID HGNC:9543 ENTREZGENE
Human Proteome Map PSMB6 Human Proteome Map
InterPro Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_T1A_subB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_sua/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_suB-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5694 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5694 ENTREZGENE
OMIM 600307 OMIM
PANTHER METALLOPROTEASE TLDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Proteasome UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33888 PharmGKB
PRINTS PROTEASOME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEASOME_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X2I4 ENTREZGENE, UniProtKB/TrEMBL
  I3L3X7_HUMAN UniProtKB/TrEMBL
  P28072 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6IAT9 ENTREZGENE, UniProtKB/TrEMBL
  Q96J55 ENTREZGENE
UniProt Secondary Q96J55 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 PSMB6  proteasome 20S subunit beta 6  PSMB6  proteasome subunit beta 6  Symbol and/or name change 5135510 APPROVED
2015-08-18 PSMB6  proteasome subunit beta 6  PSMB6  proteasome (prosome, macropain) subunit, beta type, 6  Symbol and/or name change 5135510 APPROVED