PSMA6 (proteasome 20S subunit alpha 6) - Rat Genome Database

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Gene: PSMA6 (proteasome 20S subunit alpha 6) Homo sapiens
Analyze
Symbol: PSMA6
Name: proteasome 20S subunit alpha 6
RGD ID: 736338
HGNC Page HGNC:9535
Description: Enables NF-kappaB binding activity and RNA binding activity. Involved in proteolysis involved in protein catabolic process. Located in nucleoplasm and ribosome. Part of proteasome core complex, alpha-subunit complex. Is active in cytoplasm and nucleus. Implicated in myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 27 kDa prosomal protein; IOTA; macropain iota chain; macropain subunit iota; MGC22756; MGC2333; MGC23846; multicatalytic endopeptidase complex iota chain; p27K; PROS-27; PROS27; prosomal P27K protein; proteasome (prosome, macropain) subunit, alpha type 6; proteasome (prosome, macropain) subunit, alpha type, 6; proteasome iota chain; proteasome subunit alpha 6; proteasome subunit alpha type-6; proteasome subunit alpha1; proteasome subunit iota; testicular secretory protein Li 44
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PSMA6P1   PSMA6P2   PSMA6P3   PSMA6P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381435,278,558 - 35,317,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1435,278,633 - 35,317,493 (+)EnsemblGRCh38hg38GRCh38
GRCh371435,747,764 - 35,786,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361434,831,325 - 34,856,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 341434,831,324 - 34,856,429NCBI
Celera1415,625,404 - 15,650,528 (+)NCBICelera
Cytogenetic Map14q13.2NCBI
HuRef1415,875,787 - 15,900,913 (+)NCBIHuRef
CHM1_11435,761,317 - 35,786,430 (+)NCBICHM1_1
T2T-CHM13v2.01429,466,162 - 29,505,113 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
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)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzbromarone  (ISO)
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)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
lovastatin  (ISO)
menadione  (EXP)
methidathion  (ISO)
methimazole  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
quercitrin  (EXP)
resveratrol  (EXP)
sulfadimethoxine  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IEA,TAS)
extracellular exosome  (HDA)
myofibril  (ISS)
nuclear matrix  (IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (HDA,IBA,IDA,IEA)
P-body  (IEA,ISS)
proteasome complex  (IDA,IEA,NAS)
proteasome core complex  (IDA,IEA,ISS,NAS)
proteasome core complex, alpha-subunit complex  (IBA,IDA,IEA,ISS,TAS)
ribosome  (IDA)
sarcomere  (ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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:1888762   PMID:7681138   PMID:7811265   PMID:7821789   PMID:8618844   PMID:8811196   PMID:9056411   PMID:9079628   PMID:9096325   PMID:9311996   PMID:9451443   PMID:9497851  
PMID:9811770   PMID:9846577   PMID:10893419   PMID:10983987   PMID:11205743   PMID:11285280   PMID:11771738   PMID:11917093   PMID:11924531   PMID:12167863   PMID:12376572   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:14743216   PMID:15029244   PMID:15225636  
PMID:15489334   PMID:15887188   PMID:15936278   PMID:16045761   PMID:16169070   PMID:16196087   PMID:16503656   PMID:16707496   PMID:16759355   PMID:16845397   PMID:16990800   PMID:17189198  
PMID:17323924   PMID:17353931   PMID:17384448   PMID:17535269   PMID:17555133   PMID:17558393   PMID:17573772   PMID:17948026   PMID:18029348   PMID:18157711   PMID:18158110   PMID:18231128  
PMID:18358479   PMID:18775730   PMID:18922472   PMID:19013454   PMID:19056482   PMID:19182073   PMID:19193609   PMID:19272601   PMID:19282875   PMID:19299420   PMID:19336475   PMID:19489727  
PMID:19490896   PMID:19526842   PMID:19535905   PMID:19581590   PMID:19596235   PMID:19615732   PMID:19624571   PMID:19738201   PMID:19781552   PMID:19822669   PMID:19913121   PMID:19941857  
PMID:20408869   PMID:20458337   PMID:20628086   PMID:20682791   PMID:20953189   PMID:21145461   PMID:21319273   PMID:21420386   PMID:21516116   PMID:21565611   PMID:21630459   PMID:21873635  
PMID:22072791   PMID:22119785   PMID:22158041   PMID:22310064   PMID:22623428   PMID:22645313   PMID:22863883   PMID:22882272   PMID:22939629   PMID:22944692   PMID:22990118   PMID:23022198  
PMID:23026512   PMID:23111455   PMID:23145062   PMID:23376485   PMID:23438482   PMID:23443559   PMID:23503661   PMID:23824909   PMID:24457600   PMID:24809174   PMID:24875235   PMID:25147182  
PMID:25277244   PMID:25416956   PMID:25499913   PMID:25852190   PMID:25921289   PMID:25959826   PMID:26075709   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26472760   PMID:26485645  
PMID:26496610   PMID:26618866   PMID:26657688   PMID:26661414   PMID:26748699   PMID:26816005   PMID:26833585   PMID:26885983   PMID:27114451   PMID:27428775   PMID:27465334   PMID:27477512  
PMID:27497298   PMID:27503909   PMID:27591049   PMID:27609421   PMID:27671905   PMID:27705803   PMID:27791183   PMID:28027390   PMID:28137758   PMID:28165654   PMID:28292943   PMID:28302793  
PMID:28514442   PMID:28581483   PMID:28675297   PMID:28685749   PMID:28775156   PMID:28821611   PMID:29128334   PMID:29229926   PMID:29346117   PMID:29426014   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29636472   PMID:29666234   PMID:29791485   PMID:29845934   PMID:30133132   PMID:30196744   PMID:30257870   PMID:30287505   PMID:30425250   PMID:30455355   PMID:30463901  
PMID:30575818   PMID:30659753   PMID:30833792   PMID:30898113   PMID:30948266   PMID:31046837   PMID:31059266   PMID:31091453   PMID:31470122   PMID:31536960   PMID:31586073   PMID:31594818  
PMID:31740976   PMID:31901637   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32460013   PMID:32596371   PMID:32687490   PMID:32807901   PMID:32814053   PMID:32814769   PMID:32842143  
PMID:32877691   PMID:32905556   PMID:32963011   PMID:32989298   PMID:33306668   PMID:33417871   PMID:33729478   PMID:33766124   PMID:33916271   PMID:33961781   PMID:34159380   PMID:34226595  
PMID:34373451   PMID:34383978   PMID:34385323   PMID:34599178   PMID:34711951   PMID:34728620   PMID:34732716   PMID:34761751   PMID:35013556   PMID:35032548   PMID:35140242   PMID:35256949  
PMID:35271311   PMID:35338135   PMID:35439318   PMID:35446349   PMID:35530310   PMID:35681168   PMID:35701858   PMID:35777956   PMID:35831314   PMID:35831895   PMID:35906200   PMID:35944360  
PMID:35980206   PMID:36089195   PMID:36215168   PMID:36244648   PMID:36517590   PMID:36597993   PMID:36610398   PMID:36732658   PMID:36779763   PMID:37536630   PMID:37616343   PMID:38113892  


Genomics

Comparative Map Data
PSMA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381435,278,558 - 35,317,493 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1435,278,633 - 35,317,493 (+)EnsemblGRCh38hg38GRCh38
GRCh371435,747,764 - 35,786,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361434,831,325 - 34,856,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 341434,831,324 - 34,856,429NCBI
Celera1415,625,404 - 15,650,528 (+)NCBICelera
Cytogenetic Map14q13.2NCBI
HuRef1415,875,787 - 15,900,913 (+)NCBIHuRef
CHM1_11435,761,317 - 35,786,430 (+)NCBICHM1_1
T2T-CHM13v2.01429,466,162 - 29,505,113 (+)NCBIT2T-CHM13v2.0
Psma6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391255,431,007 - 55,465,244 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1255,431,007 - 55,465,239 (+)EnsemblGRCm39 Ensembl
GRCm381255,384,222 - 55,418,459 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1255,384,222 - 55,418,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv371256,499,812 - 56,519,446 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361256,317,027 - 56,336,581 (+)NCBIMGSCv36mm8
Celera1256,548,065 - 56,567,699 (+)NCBICelera
Cytogenetic Map12C1NCBI
cM Map1223.94NCBI
Psma6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8678,500,676 - 78,531,693 (+)NCBIGRCr8
mRatBN7.2672,765,534 - 72,796,554 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl672,765,473 - 72,796,554 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx673,199,417 - 73,216,739 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0673,505,773 - 73,523,097 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0672,934,448 - 72,951,769 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0676,174,460 - 76,205,429 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl676,174,452 - 76,205,426 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0685,711,990 - 85,742,474 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4675,649,844 - 75,667,404 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1675,652,972 - 75,670,527 (+)NCBI
Celera671,619,646 - 71,637,029 (+)NCBICelera
Cytogenetic Map6q23NCBI
Psma6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540925,750,270 - 25,787,533 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540925,751,578 - 25,787,533 (-)NCBIChiLan1.0ChiLan1.0
PSMA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21536,604,909 - 36,630,164 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11435,821,412 - 35,846,667 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01416,044,300 - 16,069,521 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11434,227,495 - 34,252,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1434,214,271 - 34,252,347 (+)Ensemblpanpan1.1panPan2
PSMA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1814,010,899 - 14,038,141 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl814,010,939 - 14,038,134 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha813,807,535 - 13,834,775 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0814,116,970 - 14,144,066 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl814,117,011 - 14,144,063 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1813,818,618 - 13,845,898 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0813,883,420 - 13,910,936 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0814,173,313 - 14,200,558 (+)NCBIUU_Cfam_GSD_1.0
Psma6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864045,937,259 - 45,961,803 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364949,443,176 - 9,467,697 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl764,578,243 - 64,616,491 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1764,578,247 - 64,603,351 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2769,487,814 - 69,525,983 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PSMA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12412,099,804 - 12,127,477 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2412,099,937 - 12,127,309 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660531,062,970 - 1,090,568 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psma6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248381,449,266 - 1,486,382 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248381,449,362 - 1,474,597 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSMA6
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002791.3(PSMA6):c.-8C>G single nucleotide variant Myocardial infarction, susceptibility to [RCV001799589]|PSMA6-related condition [RCV003982829] Chr14:35292469 [GRCh38]
Chr14:35761675 [GRCh37]
Chr14:14q13.2
risk factor|benign
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q13.1-13.3(chr14:34450934-36880151)x1 copy number loss See cases [RCV000051492] Chr14:34450934..36880151 [GRCh38]
Chr14:34920140..37349356 [GRCh37]
Chr14:33989891..36419107 [NCBI36]
Chr14:14q13.1-13.3
pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_002791.2(PSMA6):c.506G>A (p.Gly169Glu) single nucleotide variant Malignant melanoma [RCV000070532] Chr14:35312977 [GRCh38]
Chr14:35782183 [GRCh37]
Chr14:34851934 [NCBI36]
Chr14:14q13.2
not provided
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 copy number loss See cases [RCV000137841] Chr14:35068276..43994777 [GRCh38]
Chr14:35537482..44463980 [GRCh37]
Chr14:34607233..43533730 [NCBI36]
Chr14:14q13.2-21.2
pathogenic
GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1 copy number loss See cases [RCV000142211] Chr14:33880412..42359485 [GRCh38]
Chr14:34349618..42828688 [GRCh37]
Chr14:33419369..41898438 [NCBI36]
Chr14:14q13.1-21.1
pathogenic
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2
pathogenic
GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1 copy number loss See cases [RCV000142534] Chr14:33762166..36191750 [GRCh38]
Chr14:34231372..36660956 [GRCh37]
Chr14:33301123..35730707 [NCBI36]
Chr14:14q13.1-13.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q13.2(chr14:35734798-35784055)x3 copy number gain See cases [RCV000445791] Chr14:35734798..35784055 [GRCh37]
Chr14:14q13.2
conflicting data from submitters
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_002791.3(PSMA6):c.547G>A (p.Val183Met) single nucleotide variant Inborn genetic diseases [RCV003270879] Chr14:35313018 [GRCh38]
Chr14:35782224 [GRCh37]
Chr14:14q13.2
uncertain significance
NM_002791.3(PSMA6):c.428T>C (p.Ile143Thr) single nucleotide variant Inborn genetic diseases [RCV003282659] Chr14:35312899 [GRCh38]
Chr14:35782105 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q13.2(chr14:35724243-35850214)x3 copy number gain not provided [RCV000847927] Chr14:35724243..35850214 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2
pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1
not provided
NC_000014.8:g.(?_35182071)_(35873850_?)del deletion Ectodermal dysplasia and immunodeficiency 2 [RCV003107717]|not provided [RCV003113213] Chr14:35182071..35873850 [GRCh37]
Chr14:14q13.1-13.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 14q13.2(chr14:35395019-35783469)x3 copy number gain not provided [RCV001006615] Chr14:35395019..35783469 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367) copy number loss Poor motor coordination [RCV001352634] Chr14:33608925..44570367 [GRCh37]
Chr14:14q13.1-21.2
pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
NM_002791.3(PSMA6):c.5C>T (p.Ser2Phe) single nucleotide variant Inborn genetic diseases [RCV003304993] Chr14:35292481 [GRCh38]
Chr14:35761687 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1 copy number loss not provided [RCV002511791] Chr14:34904407..36784136 [GRCh37]
Chr14:14q13.1-13.3
pathogenic
NM_002791.3(PSMA6):c.68A>G (p.Tyr23Cys) single nucleotide variant Inborn genetic diseases [RCV002888363] Chr14:35292544 [GRCh38]
Chr14:35761750 [GRCh37]
Chr14:14q13.2
uncertain significance
NM_002791.3(PSMA6):c.43A>G (p.Ile15Val) single nucleotide variant Inborn genetic diseases [RCV002935401] Chr14:35292519 [GRCh38]
Chr14:35761725 [GRCh37]
Chr14:14q13.2
uncertain significance
NM_002791.3(PSMA6):c.655G>A (p.Val219Ile) single nucleotide variant Inborn genetic diseases [RCV002898153] Chr14:35314427 [GRCh38]
Chr14:35783633 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1
pathogenic
GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1 copy number loss not provided [RCV003483199] Chr14:34585231..37477843 [GRCh37]
Chr14:14q13.1-13.3
pathogenic
GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3 copy number gain not specified [RCV003987042] Chr14:35360640..35936592 [GRCh37]
Chr14:14q13.2
uncertain significance
GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1 copy number loss not specified [RCV003987053] Chr14:29190489..45325177 [GRCh37]
Chr14:14q12-21.2
pathogenic
GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3 copy number gain not specified [RCV003987068] Chr14:35059946..35787671 [GRCh37]
Chr14:14q13.1-13.2
uncertain significance
NM_001282234.1(PSMA6):c.13C>T (p.Arg5Trp) single nucleotide variant PSMA6-related condition [RCV003977315] Chr14:35278712 [GRCh38]
Chr14:35747918 [GRCh37]
Chr14:14q13.2
benign
NM_002791.3(PSMA6):c.172-10T>G single nucleotide variant PSMA6-related condition [RCV003954753] Chr14:35308904 [GRCh38]
Chr14:35778110 [GRCh37]
Chr14:14q13.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1906
Count of miRNA genes:549
Interacting mature miRNAs:611
Transcripts:ENST00000261479, ENST00000540871, ENST00000553688, ENST00000553809, ENST00000554457, ENST00000554541, ENST00000554620, ENST00000554843, ENST00000554961, ENST00000555050, ENST00000555764, ENST00000556167, ENST00000556221, ENST00000556506
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH79927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y15,399,272 - 15,399,373UniSTSGRCh37
GRCh371435,786,526 - 35,786,627UniSTSGRCh37
Build 361434,856,277 - 34,856,378RGDNCBI36
CeleraX2,381,984 - 2,382,085RGD
Celera1415,650,374 - 15,650,475UniSTS
Cytogenetic MapYq11UniSTS
Cytogenetic MapYq11.221UniSTS
Cytogenetic Map14q13UniSTS
HuRefY10,049,187 - 10,049,288UniSTS
HuRef1415,900,759 - 15,900,860UniSTS
G36278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371435,775,942 - 35,776,040UniSTSGRCh37
Build 361434,845,693 - 34,845,791RGDNCBI36
Cytogenetic Map14q13UniSTS


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
Medium 2372 2900 1494 437 1851 279 4256 2162 3665 211 1337 1543 175 1 1203 2787 5 2
Low 67 91 232 187 100 186 101 35 69 206 123 70 1 1 1
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA090836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF332577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG701535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ009843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU198521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU657545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY028439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261479   ⟹   ENSP00000261479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,382 - 35,317,493 (+)Ensembl
RefSeq Acc Id: ENST00000540871   ⟹   ENSP00000444844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,278,633 - 35,317,467 (+)Ensembl
RefSeq Acc Id: ENST00000553688   ⟹   ENSP00000450844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,443 - 35,312,899 (+)Ensembl
RefSeq Acc Id: ENST00000553809   ⟹   ENSP00000452603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,398 - 35,317,347 (+)Ensembl
RefSeq Acc Id: ENST00000554457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,312,743 - 35,317,472 (+)Ensembl
RefSeq Acc Id: ENST00000554541   ⟹   ENSP00000451958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,349 - 35,317,457 (+)Ensembl
RefSeq Acc Id: ENST00000554620   ⟹   ENSP00000451432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,393 - 35,314,395 (+)Ensembl
RefSeq Acc Id: ENST00000554843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,388 - 35,311,052 (+)Ensembl
RefSeq Acc Id: ENST00000554961   ⟹   ENSP00000451254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,393 - 35,317,474 (+)Ensembl
RefSeq Acc Id: ENST00000555050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,308,775 - 35,310,827 (+)Ensembl
RefSeq Acc Id: ENST00000555764   ⟹   ENSP00000452566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,451 - 35,317,493 (+)Ensembl
RefSeq Acc Id: ENST00000556167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,395 - 35,308,436 (+)Ensembl
RefSeq Acc Id: ENST00000556221   ⟹   ENSP00000451171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,310,833 - 35,317,472 (+)Ensembl
RefSeq Acc Id: ENST00000556506   ⟹   ENSP00000450528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,473 - 35,317,419 (+)Ensembl
RefSeq Acc Id: ENST00000622405   ⟹   ENSP00000479620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,317 - 35,317,478 (+)Ensembl
RefSeq Acc Id: ENST00000627895   ⟹   ENSP00000485817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,317 - 35,310,287 (+)Ensembl
RefSeq Acc Id: ENST00000628955   ⟹   ENSP00000485776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1435,292,317 - 35,293,080 (+)Ensembl
RefSeq Acc Id: NM_001282232   ⟹   NP_001269161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,292,317 - 35,317,479 (+)NCBI
HuRef1415,862,117 - 15,900,918 (+)NCBI
CHM1_11435,761,266 - 35,786,435 (+)NCBI
T2T-CHM13v2.01429,479,925 - 29,505,099 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282233   ⟹   NP_001269162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,292,317 - 35,317,479 (+)NCBI
HuRef1415,862,117 - 15,900,918 (+)NCBI
CHM1_11435,761,266 - 35,786,435 (+)NCBI
T2T-CHM13v2.01429,479,925 - 29,505,099 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282234   ⟹   NP_001269163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,278,558 - 35,317,479 (+)NCBI
HuRef1415,862,117 - 15,900,918 (+)NCBI
CHM1_11435,747,501 - 35,786,435 (+)NCBI
T2T-CHM13v2.01429,466,162 - 29,505,099 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002791   ⟹   NP_002782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,292,382 - 35,317,493 (+)NCBI
GRCh371435,747,811 - 35,786,680 (+)NCBI
Build 361434,831,325 - 34,856,431 (+)NCBI Archive
HuRef1415,862,117 - 15,900,918 (+)NCBI
CHM1_11435,761,266 - 35,786,435 (+)NCBI
T2T-CHM13v2.01429,479,990 - 29,505,113 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104110
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,292,317 - 35,317,479 (+)NCBI
HuRef1415,862,117 - 15,900,918 (+)NCBI
CHM1_11435,761,266 - 35,786,435 (+)NCBI
T2T-CHM13v2.01429,479,925 - 29,505,099 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269161 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269162 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269163 (Get FASTA)   NCBI Sequence Viewer  
  NP_002782 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG61139 (Get FASTA)   NCBI Sequence Viewer  
  AAH02979 (Get FASTA)   NCBI Sequence Viewer  
  AAH17882 (Get FASTA)   NCBI Sequence Viewer  
  AAH22354 (Get FASTA)   NCBI Sequence Viewer  
  AAH23659 (Get FASTA)   NCBI Sequence Viewer  
  AAH70137 (Get FASTA)   NCBI Sequence Viewer  
  AEE61181 (Get FASTA)   NCBI Sequence Viewer  
  BAA05800 (Get FASTA)   NCBI Sequence Viewer  
  BAG35846 (Get FASTA)   NCBI Sequence Viewer  
  BAG61026 (Get FASTA)   NCBI Sequence Viewer  
  BAG63411 (Get FASTA)   NCBI Sequence Viewer  
  BAH14594 (Get FASTA)   NCBI Sequence Viewer  
  CAA42052 (Get FASTA)   NCBI Sequence Viewer  
  CAA43964 (Get FASTA)   NCBI Sequence Viewer  
  CAG33225 (Get FASTA)   NCBI Sequence Viewer  
  EAW65876 (Get FASTA)   NCBI Sequence Viewer  
  EAW65877 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261479
  ENSP00000261479.4
  ENSP00000444844
  ENSP00000444844.1
  ENSP00000450528.1
  ENSP00000450844.1
  ENSP00000451171.1
  ENSP00000451254.1
  ENSP00000451432.1
  ENSP00000451958.1
  ENSP00000452566
  ENSP00000452566.1
  ENSP00000452603.1
  ENSP00000479620
  ENSP00000479620.1
  ENSP00000485776.1
  ENSP00000485817.1
GenBank Protein P60900 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002782   ⟸   NM_002791
- Peptide Label: isoform a
- UniProtKB: P34062 (UniProtKB/Swiss-Prot),   B4DXJ9 (UniProtKB/Swiss-Prot),   B4DQR4 (UniProtKB/Swiss-Prot),   B2R7J9 (UniProtKB/Swiss-Prot),   Q6IB60 (UniProtKB/Swiss-Prot),   P60900 (UniProtKB/Swiss-Prot),   A0A140VK44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269163   ⟸   NM_001282234
- Peptide Label: isoform c
- UniProtKB: P60900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269161   ⟸   NM_001282232
- Peptide Label: isoform b
- UniProtKB: P60900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269162   ⟸   NM_001282233
- Peptide Label: isoform b
- UniProtKB: P60900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000452566   ⟸   ENST00000555764
RefSeq Acc Id: ENSP00000451171   ⟸   ENST00000556221
RefSeq Acc Id: ENSP00000450528   ⟸   ENST00000556506
RefSeq Acc Id: ENSP00000479620   ⟸   ENST00000622405
RefSeq Acc Id: ENSP00000485817   ⟸   ENST00000627895
RefSeq Acc Id: ENSP00000485776   ⟸   ENST00000628955
RefSeq Acc Id: ENSP00000261479   ⟸   ENST00000261479
RefSeq Acc Id: ENSP00000452603   ⟸   ENST00000553809
RefSeq Acc Id: ENSP00000450844   ⟸   ENST00000553688
RefSeq Acc Id: ENSP00000451432   ⟸   ENST00000554620
RefSeq Acc Id: ENSP00000451958   ⟸   ENST00000554541
RefSeq Acc Id: ENSP00000451254   ⟸   ENST00000554961
RefSeq Acc Id: ENSP00000444844   ⟸   ENST00000540871
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60900-F1-model_v2 AlphaFold P60900 1-246 view protein structure

Promoters
RGD ID:6791812
Promoter ID:HG_KWN:19213
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:OTTHUMT00000276684
Position:
Human AssemblyChrPosition (strand)Source
Build 361434,831,086 - 34,831,687 (+)MPROMDB
RGD ID:7227423
Promoter ID:EPDNEW_H19457
Type:initiation region
Name:PSMA6_3
Description:proteasome subunit alpha 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19458  EPDNEW_H19459  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,278,633 - 35,278,693EPDNEW
RGD ID:7227425
Promoter ID:EPDNEW_H19458
Type:initiation region
Name:PSMA6_1
Description:proteasome subunit alpha 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19457  EPDNEW_H19459  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,292,392 - 35,292,452EPDNEW
RGD ID:7227427
Promoter ID:EPDNEW_H19459
Type:initiation region
Name:PSMA6_2
Description:proteasome subunit alpha 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19457  EPDNEW_H19458  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381435,294,473 - 35,294,533EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9535 AgrOrtholog
COSMIC PSMA6 COSMIC
Ensembl Genes ENSG00000100902 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261479 ENTREZGENE
  ENST00000261479.9 UniProtKB/Swiss-Prot
  ENST00000540871 ENTREZGENE
  ENST00000540871.5 UniProtKB/Swiss-Prot
  ENST00000553688.5 UniProtKB/TrEMBL
  ENST00000553809.5 UniProtKB/TrEMBL
  ENST00000554541.5 UniProtKB/TrEMBL
  ENST00000554620.5 UniProtKB/TrEMBL
  ENST00000554961 ENTREZGENE
  ENST00000554961.5 UniProtKB/TrEMBL
  ENST00000555764 ENTREZGENE
  ENST00000555764.5 UniProtKB/Swiss-Prot
  ENST00000556221.1 UniProtKB/TrEMBL
  ENST00000556506.1 UniProtKB/TrEMBL
  ENST00000622405 ENTREZGENE
  ENST00000622405.4 UniProtKB/Swiss-Prot
  ENST00000627895.2 UniProtKB/TrEMBL
  ENST00000628955.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100902 GTEx
HGNC ID HGNC:9535 ENTREZGENE
Human Proteome Map PSMA6 Human Proteome Map
InterPro Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_alpha-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_asu_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_sua/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_subunit_alpha6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5687 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5687 ENTREZGENE
OMIM 602855 OMIM
PANTHER PROTEASOME SUBUNIT ALPHA TYPE-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME SUBUNIT ALPHA/BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Proteasome UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33880 PharmGKB
PROSITE PROTEASOME_ALPHA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASOME_ALPHA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Proteasome_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK44 ENTREZGENE, UniProtKB/TrEMBL
  B2R7J9 ENTREZGENE
  B4DQR4 ENTREZGENE
  B4DXJ9 ENTREZGENE
  G3V295_HUMAN UniProtKB/TrEMBL
  G3V2S7_HUMAN UniProtKB/TrEMBL
  G3V3I1_HUMAN UniProtKB/TrEMBL
  G3V3U4_HUMAN UniProtKB/TrEMBL
  G3V4S5_HUMAN UniProtKB/TrEMBL
  G3V5Z7_HUMAN UniProtKB/TrEMBL
  H0YJC4_HUMAN UniProtKB/TrEMBL
  P34062 ENTREZGENE
  P60900 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6IB60 ENTREZGENE
  Q9BZ93_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R7J9 UniProtKB/Swiss-Prot
  B4DQR4 UniProtKB/Swiss-Prot
  B4DXJ9 UniProtKB/Swiss-Prot
  P34062 UniProtKB/Swiss-Prot
  Q6IB60 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 PSMA6  proteasome 20S subunit alpha 6  PSMA6  proteasome subunit alpha 6  Symbol and/or name change 5135510 APPROVED
2015-08-18 PSMA6  proteasome subunit alpha 6  PSMA6  proteasome (prosome, macropain) subunit, alpha type, 6  Symbol and/or name change 5135510 APPROVED