PMEPA1 (prostate transmembrane protein, androgen induced 1) - Rat Genome Database

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Gene: PMEPA1 (prostate transmembrane protein, androgen induced 1) Homo sapiens
Analyze
Symbol: PMEPA1
Name: prostate transmembrane protein, androgen induced 1
RGD ID: 1317924
HGNC Page HGNC:14107
Description: Enables R-SMAD binding activity; WW domain binding activity; and protein sequestering activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Located in Golgi membrane and early endosome membrane. Biomarker of breast cancer; gastric adenocarcinoma; prostate cancer; rectal benign neoplasm; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: prostate transmembrane protein androgen induced 1; solid tumor-associated 1 protein; solid tumor-associated gene 1; STAG1; TMEPAI; transmembrane prostate androgen-induced protein; transmembrane, prostate androgen induced RNA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382057,648,396 - 57,711,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2057,648,392 - 57,711,536 (-)EnsemblGRCh38hg38GRCh38
GRCh372056,223,452 - 56,286,528 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362055,656,858 - 55,719,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 342055,656,859 - 55,719,947NCBI
Celera2052,963,835 - 53,026,924 (-)NCBICelera
Cytogenetic Map20q13.31NCBI
HuRef2053,005,433 - 53,067,708 (-)NCBIHuRef
CHM1_12056,124,658 - 56,187,819 (-)NCBICHM1_1
T2T-CHM13v2.02059,426,291 - 59,489,466 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP)
amitrole  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP,ISO)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chlorpromazine  (ISO)
chromium atom  (EXP)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
difenoconazole  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
fentin acetate  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
heroin  (EXP)
ibuprofen  (ISO)
ifosfamide  (EXP)
indometacin  (EXP)
inulin  (ISO)
iron(2+) sulfate (anhydrous)  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
menadione  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
N-Nitrosopyrrolidine  (EXP)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
Soman  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. EGF- and cell-cycle-regulated STAG1/PMEPA1/ERG1.2 belongs to a conserved gene family and is overexpressed and amplified in breast and ovarian cancer. Giannini G, etal., Mol Carcinog. 2003 Dec;38(4):188-200.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Characterization of a novel gene, STAG1/PMEPA1, upregulated in renal cell carcinoma and other solid tumors. Rae FK, etal., Mol Carcinog. 2001 Sep;32(1):44-53.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. PMEPA1, an androgen-regulated NEDD4-binding protein, exhibits cell growth inhibitory function and decreased expression during prostate cancer progression. Xu LL, etal., Cancer Res. 2003 Aug 1;63(15):4299-304.
Additional References at PubMed
PMID:10873380   PMID:11042109   PMID:11780052   PMID:12477932   PMID:12670906   PMID:15489334   PMID:16341674   PMID:16713569   PMID:17318295   PMID:18174752   PMID:18703514   PMID:19460752  
PMID:20129061   PMID:20610632   PMID:21145461   PMID:21341270   PMID:21873635   PMID:23149075   PMID:23251661   PMID:23284715   PMID:23615405   PMID:24438557   PMID:24627487   PMID:24694733  
PMID:24933703   PMID:25482449   PMID:25883222   PMID:26215835   PMID:26590303   PMID:26758191   PMID:26927372   PMID:27035427   PMID:27163528   PMID:27625141   PMID:27697531   PMID:28218281  
PMID:29117863   PMID:29467225   PMID:29945215   PMID:29955039   PMID:30021884   PMID:30069967   PMID:30873542   PMID:30887697   PMID:30890370   PMID:31605013   PMID:32181976   PMID:32296183  
PMID:32842649   PMID:33831430   PMID:33845483   PMID:33857498   PMID:33896822   PMID:33961781   PMID:34254950   PMID:34638419   PMID:34777336   PMID:35497877   PMID:35696571   PMID:36217030  
PMID:37683830   PMID:38385084  


Genomics

Comparative Map Data
PMEPA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382057,648,396 - 57,711,472 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2057,648,392 - 57,711,536 (-)EnsemblGRCh38hg38GRCh38
GRCh372056,223,452 - 56,286,528 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362055,656,858 - 55,719,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 342055,656,859 - 55,719,947NCBI
Celera2052,963,835 - 53,026,924 (-)NCBICelera
Cytogenetic Map20q13.31NCBI
HuRef2053,005,433 - 53,067,708 (-)NCBIHuRef
CHM1_12056,124,658 - 56,187,819 (-)NCBICHM1_1
T2T-CHM13v2.02059,426,291 - 59,489,466 (-)NCBIT2T-CHM13v2.0
Pmepa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392173,066,251 - 173,118,329 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2173,066,251 - 173,118,326 (-)EnsemblGRCm39 Ensembl
GRCm382173,224,458 - 173,276,731 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2173,224,458 - 173,276,533 (-)EnsemblGRCm38mm10GRCm38
MGSCv372173,049,966 - 173,102,034 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362172,870,728 - 172,919,472 (-)NCBIMGSCv36mm8
Celera2179,192,066 - 179,202,057 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map295.85NCBI
Pmepa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83182,430,193 - 182,478,649 (-)NCBIGRCr8
mRatBN7.23162,011,884 - 162,060,343 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3162,012,751 - 162,060,454 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3165,812,187 - 165,818,999 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03174,316,169 - 174,322,997 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03172,052,965 - 172,059,777 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03171,295,630 - 171,342,662 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3171,294,856 - 171,342,646 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03177,360,018 - 177,407,050 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43164,094,654 - 164,140,142 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13164,003,347 - 164,051,086 (-)NCBI
Celera3161,200,373 - 161,207,182 (-)NCBICelera
Cytogenetic Map3q42NCBI
Pmepa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554451,837,062 - 1,847,214 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554451,837,084 - 1,847,214 (+)NCBIChiLan1.0ChiLan1.0
PMEPA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22163,400,110 - 63,462,420 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12063,393,229 - 63,455,537 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02053,989,384 - 54,052,151 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12055,267,089 - 55,329,349 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2055,267,089 - 55,329,347 (-)Ensemblpanpan1.1panPan2
PMEPA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12442,602,608 - 42,637,569 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2442,602,595 - 42,656,209 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2441,846,597 - 41,902,939 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02443,464,654 - 43,520,349 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2443,466,163 - 43,521,173 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12442,571,913 - 42,623,915 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02442,689,091 - 42,745,421 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02443,347,420 - 43,403,784 (-)NCBIUU_Cfam_GSD_1.0
Pmepa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640182,866,513 - 182,877,162 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936530429,045 - 439,866 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936530429,059 - 439,847 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMEPA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1757,999,287 - 58,054,118 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11757,999,287 - 58,054,329 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21765,159,876 - 65,215,002 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PMEPA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.126,403,358 - 6,465,958 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl26,404,515 - 6,465,982 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605054,461,088 - 54,523,559 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pmepa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474124,051,566 - 24,103,997 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474124,053,947 - 24,103,990 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PMEPA1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_199171.2(PMEPA1):c.611C>T (p.Ser204Phe) single nucleotide variant Malignant melanoma [RCV000072719] Chr20:57652156 [GRCh38]
Chr20:56227212 [GRCh37]
Chr20:55660618 [NCBI36]
Chr20:20q13.31
not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33
pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33
pathogenic
GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1 copy number loss See cases [RCV000141033] Chr20:54594888..58190583 [GRCh38]
Chr20:53211427..56765639 [GRCh37]
Chr20:52644834..56199045 [NCBI36]
Chr20:20q13.2-13.32
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.31(chr20:56248688-56252260)x0 copy number loss not provided [RCV000741292] Chr20:56248688..56252260 [GRCh37]
Chr20:20q13.31
benign
GRCh37/hg19 20q13.31(chr20:56284346-56286443)x1 copy number loss not provided [RCV000741293] Chr20:56284346..56286443 [GRCh37]
Chr20:20q13.31
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
NM_020182.5(PMEPA1):c.706A>G (p.Ile236Val) single nucleotide variant Inborn genetic diseases [RCV003240405] Chr20:57652211 [GRCh38]
Chr20:56227267 [GRCh37]
Chr20:20q13.31
uncertain significance
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33
pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) copy number loss not specified [RCV002052712] Chr20:55292205..57866365 [GRCh37]
Chr20:20q13.31-13.32
pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del deletion not provided [RCV001900543] Chr20:54823900..57899514 [GRCh37]
Chr20:20q13.2-13.32
uncertain significance
NM_020182.5(PMEPA1):c.499C>T (p.Leu167Phe) single nucleotide variant Inborn genetic diseases [RCV002882773] Chr20:57652418 [GRCh38]
Chr20:56227474 [GRCh37]
Chr20:20q13.31
uncertain significance
NM_020182.5(PMEPA1):c.788A>C (p.His263Pro) single nucleotide variant Inborn genetic diseases [RCV002772102] Chr20:57652129 [GRCh38]
Chr20:56227185 [GRCh37]
Chr20:20q13.31
likely benign
NM_020182.5(PMEPA1):c.53C>G (p.Pro18Arg) single nucleotide variant Inborn genetic diseases [RCV002887859] Chr20:57709530 [GRCh38]
Chr20:56284586 [GRCh37]
Chr20:20q13.31
uncertain significance
NM_020182.5(PMEPA1):c.548T>G (p.Val183Gly) single nucleotide variant Inborn genetic diseases [RCV002921016] Chr20:57652369 [GRCh38]
Chr20:56227425 [GRCh37]
Chr20:20q13.31
uncertain significance
NM_020182.5(PMEPA1):c.433G>A (p.Asp145Asn) single nucleotide variant Inborn genetic diseases [RCV002988965] Chr20:57652484 [GRCh38]
Chr20:56227540 [GRCh37]
Chr20:20q13.31
uncertain significance
NM_020182.5(PMEPA1):c.741G>T (p.Gln247His) single nucleotide variant Inborn genetic diseases [RCV003308613] Chr20:57652176 [GRCh38]
Chr20:56227232 [GRCh37]
Chr20:20q13.31
uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33
uncertain significance
NM_020182.5(PMEPA1):c.385C>T (p.Arg129Cys) single nucleotide variant Inborn genetic diseases [RCV003351498] Chr20:57652532 [GRCh38]
Chr20:56227588 [GRCh37]
Chr20:20q13.31
uncertain significance
NM_020182.5(PMEPA1):c.827G>A (p.Ser276Asn) single nucleotide variant Inborn genetic diseases [RCV003383196] Chr20:57652090 [GRCh38]
Chr20:56227146 [GRCh37]
Chr20:20q13.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7742
Count of miRNA genes:1162
Interacting mature miRNAs:1481
Transcripts:ENST00000265626, ENST00000341744, ENST00000347215, ENST00000395814, ENST00000395816, ENST00000395819, ENST00000414037, ENST00000472841
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
RH75521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,226,929 - 56,227,130UniSTSGRCh37
Build 362055,660,335 - 55,660,536RGDNCBI36
Celera2052,967,312 - 52,967,513RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,008,914 - 53,009,115UniSTS
STS-F01898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,223,488 - 56,223,553UniSTSGRCh37
Build 362055,656,894 - 55,656,959RGDNCBI36
Celera2052,963,871 - 52,963,936RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,005,473 - 53,005,538UniSTS
GeneMap99-GB4 RH Map20334.42UniSTS
G19813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,223,515 - 56,223,652UniSTSGRCh37
Build 362055,656,921 - 55,657,058RGDNCBI36
Celera2052,963,898 - 52,964,035RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,005,500 - 53,005,637UniSTS
A001Z16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,223,515 - 56,223,652UniSTSGRCh37
Build 362055,656,921 - 55,657,058RGDNCBI36
Celera2052,963,898 - 52,964,035RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,005,500 - 53,005,637UniSTS
GeneMap99-GB4 RH Map20333.63UniSTS
Z94435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,285,992 - 56,286,142UniSTSGRCh37
Build 362055,719,398 - 55,719,548RGDNCBI36
Celera2053,026,375 - 53,026,525RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,067,108 - 53,067,258UniSTS
RH47916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,226,207 - 56,226,366UniSTSGRCh37
Build 362055,659,613 - 55,659,772RGDNCBI36
Celera2052,966,590 - 52,966,749RGD
Cytogenetic Map20q13.31-q13.33UniSTS
HuRef2053,008,192 - 53,008,351UniSTS
GeneMap99-GB4 RH Map20333.63UniSTS
MARC_5563-5564:1031676346:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,226,935 - 56,227,284UniSTSGRCh37
Build 362055,660,341 - 55,660,690RGDNCBI36
Celera2052,967,318 - 52,967,667RGD
HuRef2053,008,920 - 53,009,269UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1
Medium 1927 1847 1044 214 231 69 3400 1231 2840 283 988 1493 157 1167 2033
Low 496 769 654 385 1146 371 955 959 867 135 453 98 14 1 37 755 1 1
Below cutoff 11 368 25 24 505 24 4 10 1 11 9 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001255976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF224278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ308020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ308021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM846677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ008707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ690750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU196912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000265626   ⟹   ENSP00000265626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,648,394 - 57,711,536 (-)Ensembl
RefSeq Acc Id: ENST00000341744   ⟹   ENSP00000345826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,648,396 - 57,710,015 (-)Ensembl
RefSeq Acc Id: ENST00000347215   ⟹   ENSP00000344014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,648,392 - 57,710,589 (-)Ensembl
RefSeq Acc Id: ENST00000395814   ⟹   ENSP00000379159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,652,037 - 57,691,830 (-)Ensembl
RefSeq Acc Id: ENST00000395816   ⟹   ENSP00000379161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,648,392 - 57,710,569 (-)Ensembl
RefSeq Acc Id: ENST00000395819   ⟹   ENSP00000379164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,652,407 - 57,709,760 (-)Ensembl
RefSeq Acc Id: ENST00000414037   ⟹   ENSP00000401506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,652,208 - 57,690,624 (-)Ensembl
RefSeq Acc Id: ENST00000472841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2057,659,550 - 57,711,536 (-)Ensembl
RefSeq Acc Id: NM_001255976   ⟹   NP_001242905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,648,396 - 57,690,686 (-)NCBI
GRCh372056,223,448 - 56,286,592 (-)NCBI
HuRef2053,005,433 - 53,067,708 (-)NCBI
CHM1_12056,124,658 - 56,166,907 (-)NCBI
T2T-CHM13v2.02059,426,291 - 59,468,680 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020182   ⟹   NP_064567
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,648,396 - 57,710,015 (-)NCBI
GRCh372056,223,448 - 56,286,592 (-)NCBI
Build 362055,656,858 - 55,718,437 (-)NCBI Archive
HuRef2053,005,433 - 53,067,708 (-)NCBI
CHM1_12056,124,658 - 56,186,258 (-)NCBI
T2T-CHM13v2.02059,426,291 - 59,488,009 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199169   ⟹   NP_954638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,648,396 - 57,710,577 (-)NCBI
GRCh372056,223,448 - 56,286,592 (-)NCBI
Build 362055,656,858 - 55,719,031 (-)NCBI Archive
HuRef2053,005,433 - 53,067,708 (-)NCBI
CHM1_12056,124,658 - 56,186,897 (-)NCBI
T2T-CHM13v2.02059,426,291 - 59,488,571 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199170   ⟹   NP_954639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,648,396 - 57,710,577 (-)NCBI
GRCh372056,223,448 - 56,286,592 (-)NCBI
Build 362055,656,858 - 55,719,031 (-)NCBI Archive
HuRef2053,005,433 - 53,067,708 (-)NCBI
CHM1_12056,124,658 - 56,186,897 (-)NCBI
T2T-CHM13v2.02059,426,291 - 59,488,571 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199171   ⟹   NP_954640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,648,396 - 57,711,472 (-)NCBI
GRCh372056,223,448 - 56,286,592 (-)NCBI
Build 362055,656,858 - 55,719,947 (-)NCBI Archive
HuRef2053,005,433 - 53,067,708 (-)NCBI
CHM1_12056,124,658 - 56,187,819 (-)NCBI
T2T-CHM13v2.02059,426,291 - 59,489,466 (-)NCBI
Sequence:
RefSeq Acc Id: NP_954640   ⟸   NM_199171
- Peptide Label: isoform c precursor
- UniProtKB: Q66K30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954639   ⟸   NM_199170
- Peptide Label: isoform c precursor
- UniProtKB: Q66K30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954638   ⟸   NM_199169
- Peptide Label: isoform b
- UniProtKB: Q5JY37 (UniProtKB/TrEMBL),   Q66K30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_064567   ⟸   NM_020182
- Peptide Label: isoform a
- UniProtKB: Q96B72 (UniProtKB/Swiss-Prot),   Q8NER4 (UniProtKB/Swiss-Prot),   Q5TDR6 (UniProtKB/Swiss-Prot),   Q9UJD3 (UniProtKB/Swiss-Prot),   Q969W9 (UniProtKB/Swiss-Prot),   Q66K30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242905   ⟸   NM_001255976
- Peptide Label: isoform d
- UniProtKB: Q66K30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000344014   ⟸   ENST00000347215
RefSeq Acc Id: ENSP00000401506   ⟸   ENST00000414037
RefSeq Acc Id: ENSP00000345826   ⟸   ENST00000341744
RefSeq Acc Id: ENSP00000379164   ⟸   ENST00000395819
RefSeq Acc Id: ENSP00000379161   ⟸   ENST00000395816
RefSeq Acc Id: ENSP00000379159   ⟸   ENST00000395814
RefSeq Acc Id: ENSP00000265626   ⟸   ENST00000265626

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969W9-F1-model_v2 AlphaFold Q969W9 1-287 view protein structure

Promoters
RGD ID:6815368
Promoter ID:HG_MRA:10031
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:AJ308021,   AK024618,   BC025361
Position:
Human AssemblyChrPosition (strand)Source
Build 362055,659,556 - 55,660,056 (-)MPROMDB
RGD ID:6799175
Promoter ID:HG_KWN:39949
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000079858,   OTTHUMT00000267812,   UC002XYU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362055,717,821 - 55,719,102 (+)MPROMDB
RGD ID:6798900
Promoter ID:HG_KWN:39950
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000395816,   OTTHUMT00000079859
Position:
Human AssemblyChrPosition (strand)Source
Build 362055,718,754 - 55,719,254 (-)MPROMDB
RGD ID:13602202
Promoter ID:EPDNEW_H27284
Type:initiation region
Name:PMEPA1_1
Description:prostate transmembrane protein, androgen induced 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27285  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,710,015 - 57,710,075EPDNEW
RGD ID:13602200
Promoter ID:EPDNEW_H27285
Type:initiation region
Name:PMEPA1_2
Description:prostate transmembrane protein, androgen induced 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27284  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382057,710,577 - 57,710,637EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14107 AgrOrtholog
COSMIC PMEPA1 COSMIC
Ensembl Genes ENSG00000124225 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265626 ENTREZGENE
  ENST00000265626.8 UniProtKB/Swiss-Prot
  ENST00000341744 ENTREZGENE
  ENST00000341744.8 UniProtKB/Swiss-Prot
  ENST00000347215 ENTREZGENE
  ENST00000347215.8 UniProtKB/Swiss-Prot
  ENST00000395814.5 UniProtKB/Swiss-Prot
  ENST00000395816 ENTREZGENE
  ENST00000395816.7 UniProtKB/Swiss-Prot
  ENST00000395819.3 UniProtKB/TrEMBL
  ENST00000414037 ENTREZGENE
  ENST00000414037.5 UniProtKB/TrEMBL
GTEx ENSG00000124225 GTEx
HGNC ID HGNC:14107 ENTREZGENE
Human Proteome Map PMEPA1 Human Proteome Map
InterPro TMEPAI/LRAD4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56937 UniProtKB/Swiss-Prot
NCBI Gene 56937 ENTREZGENE
OMIM 606564 OMIM
PANTHER PTHR16514 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16514:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399822 PharmGKB
UniProt A2A2F4_HUMAN UniProtKB/TrEMBL
  A2A2F5_HUMAN UniProtKB/TrEMBL
  PMEPA_HUMAN UniProtKB/Swiss-Prot
  Q5JY37 ENTREZGENE, UniProtKB/TrEMBL
  Q5TDR6 ENTREZGENE
  Q66K30 ENTREZGENE, UniProtKB/TrEMBL
  Q8NER4 ENTREZGENE
  Q969W9 ENTREZGENE
  Q96B72 ENTREZGENE
  Q9UJD3 ENTREZGENE
UniProt Secondary Q5TDR6 UniProtKB/Swiss-Prot
  Q8NER4 UniProtKB/Swiss-Prot
  Q96B72 UniProtKB/Swiss-Prot
  Q9UJD3 UniProtKB/Swiss-Prot