PPP5C (protein phosphatase 5 catalytic subunit) - Rat Genome Database

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Gene: PPP5C (protein phosphatase 5 catalytic subunit) Homo sapiens
Analyze
Symbol: PPP5C
Name: protein phosphatase 5 catalytic subunit
RGD ID: 68614
HGNC Page HGNC:9322
Description: Enables several functions, including Hsp90 protein binding activity; adenyl ribonucleotide binding activity; and identical protein binding activity. Involved in positive regulation of canonical NF-kappaB signal transduction. Located in cytosol and intracellular membrane-bounded organelle. Part of protein folding chaperone complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ36922; FLJ55954; PP-T; PP5; PPP5; PPT; protein phosphatase T; Serine/Threonine phosphatase; serine/threonine-protein phosphatase 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh381946,347,087 - 46,390,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,347,087 - 46,392,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371946,850,344 - 46,894,232 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,542,134 - 51,585,945 (+)NCBINCBI36Build 36hg18NCBI36
Build 341951,542,133 - 51,585,943NCBI
Celera1943,655,283 - 43,699,097 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,278,270 - 43,321,600 (+)NCBIHuRef
CHM1_11946,852,100 - 46,896,253 (+)NCBICHM1_1
T2T-CHM13v2.01949,174,533 - 49,218,356 (+)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
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (EXP,ISO)
ADP  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
ATP  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
capsaicin  (ISO)
CGP 52608  (EXP)
chlorogenic acid  (EXP)
clobetasol  (ISO)
clozapine  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumarin  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
diazinon  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (EXP)
haloperidol  (EXP,ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
inulin  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
Maduramicin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
nitric oxide  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
potassium cyanide  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
topiramate  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ATM protein kinase: the linchpin of cellular defenses to stress. Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2.
2. Modulation of cardiac contractility by serine/threonine protein phosphatase type 5. Gergs U, etal., Int J Cardiol. 2012 Jan 26;154(2):116-21. doi: 10.1016/j.ijcard.2010.09.009. Epub 2010 Sep 28.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1330687   PMID:7925273   PMID:8125298   PMID:8561788   PMID:8666404   PMID:9195923   PMID:9383998   PMID:9405394   PMID:9482716   PMID:10400612   PMID:11504734   PMID:11689443  
PMID:12176367   PMID:12435421   PMID:12477932   PMID:12519780   PMID:12522145   PMID:12761501   PMID:14702039   PMID:14734805   PMID:14764652   PMID:15057824   PMID:15155720   PMID:15218033  
PMID:15328343   PMID:15383005   PMID:15489334   PMID:15546861   PMID:15577939   PMID:15664193   PMID:15713458   PMID:15735747   PMID:16083881   PMID:16169070   PMID:16260606   PMID:16262633  
PMID:16344560   PMID:16531226   PMID:16537434   PMID:16790549   PMID:16892053   PMID:16954377   PMID:17043677   PMID:17084641   PMID:18029348   PMID:18280813   PMID:18547097   PMID:19176521  
PMID:19586900   PMID:19615732   PMID:19740745   PMID:19875381   PMID:19948726   PMID:20029029   PMID:20661446   PMID:21144835   PMID:21235734   PMID:21360678   PMID:21706016   PMID:21832049  
PMID:21873635   PMID:21900206   PMID:21921034   PMID:22379092   PMID:22399290   PMID:22592921   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23102700   PMID:23128233   PMID:23184943  
PMID:23352616   PMID:23414517   PMID:23602568   PMID:23652204   PMID:24327656   PMID:24981860   PMID:25036637   PMID:25269953   PMID:25326185   PMID:25796168   PMID:25921289   PMID:26157124  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27353360   PMID:27432908   PMID:27501780   PMID:27609421   PMID:27684187   PMID:27742828   PMID:27880917   PMID:28330616  
PMID:28386764   PMID:28514442   PMID:28534961   PMID:28675297   PMID:29117863   PMID:29127155   PMID:29141220   PMID:29229926   PMID:29343782   PMID:30280322   PMID:30619736   PMID:30679389  
PMID:30699359   PMID:30826056   PMID:30948266   PMID:31091453   PMID:31950832   PMID:32640226   PMID:32687490   PMID:32703456   PMID:32707033   PMID:32994395   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:35007762   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:37689310   PMID:37827155  
PMID:38113892  


Genomics

Comparative Map Data
PPP5C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,347,087 - 46,390,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,347,087 - 46,392,981 (+)EnsemblGRCh38hg38GRCh38
GRCh371946,850,344 - 46,894,232 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,542,134 - 51,585,945 (+)NCBINCBI36Build 36hg18NCBI36
Build 341951,542,133 - 51,585,943NCBI
Celera1943,655,283 - 43,699,097 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,278,270 - 43,321,600 (+)NCBIHuRef
CHM1_11946,852,100 - 46,896,253 (+)NCBICHM1_1
T2T-CHM13v2.01949,174,533 - 49,218,356 (+)NCBIT2T-CHM13v2.0
Ppp5c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,738,575 - 16,761,812 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,738,565 - 16,761,849 (-)EnsemblGRCm39 Ensembl
GRCm38717,004,640 - 17,027,914 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl717,004,640 - 17,027,924 (-)EnsemblGRCm38mm10GRCm38
MGSCv37717,589,989 - 17,613,263 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36716,163,174 - 16,186,392 (-)NCBIMGSCv36mm8
Celera714,212,052 - 14,235,384 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
Ppp5c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,818,297 - 86,842,505 (-)NCBIGRCr8
mRatBN7.2177,690,203 - 77,714,507 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,690,208 - 77,714,456 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx183,070,376 - 83,094,770 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,634,443 - 91,658,837 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,825,481 - 84,849,875 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,944,054 - 78,968,361 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,944,040 - 78,968,329 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0180,191,557 - 80,216,026 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,345,194 - 77,369,417 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,423,304 - 77,447,528 (-)NCBI
Celera172,175,254 - 72,199,561 (-)NCBICelera
Cytogenetic Map1q21NCBI
Ppp5c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574523,005 - 546,923 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955574523,044 - 545,461 (+)NCBIChiLan1.0ChiLan1.0
PPP5C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22052,486,530 - 52,530,347 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11954,357,856 - 54,401,469 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01943,329,680 - 43,373,282 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11951,865,317 - 51,908,486 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1951,865,317 - 51,909,027 (+)Ensemblpanpan1.1panPan2
PPP5C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,453,768 - 109,470,933 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,454,107 - 109,467,087 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,932,919 - 108,952,331 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01109,980,222 - 109,999,640 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1109,980,225 - 109,999,646 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11109,656,345 - 109,675,726 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01109,290,676 - 109,310,075 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01110,159,739 - 110,179,155 (-)NCBIUU_Cfam_GSD_1.0
PPP5C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,377,979 - 52,402,045 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,373,266 - 52,402,048 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,637,025 - 47,660,516 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPP5C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1639,726,627 - 39,767,467 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl639,726,623 - 39,767,464 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607319,404,799 - 19,445,738 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp5c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248327,100,216 - 7,126,500 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248327,100,309 - 7,126,296 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP5C
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006247.3(PPP5C):c.634-1337C>T single nucleotide variant Lung cancer [RCV000101283] Chr19:46382074 [GRCh38]
Chr19:46885331 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1 copy number loss See cases [RCV000050710] Chr19:45595873..46600026 [GRCh38]
Chr19:46099131..47103283 [GRCh37]
Chr19:50790971..51795123 [NCBI36]
Chr19:19q13.32
pathogenic
NM_006247.3(PPP5C):c.1476G>A (p.Thr492=) single nucleotide variant Malignant melanoma [RCV000072216] Chr19:46390322 [GRCh38]
Chr19:46893579 [GRCh37]
Chr19:51585419 [NCBI36]
Chr19:19q13.32
not provided
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 copy number loss See cases [RCV000137832] Chr19:45387389..46831000 [GRCh38]
Chr19:45890647..47334257 [GRCh37]
Chr19:50582487..52026097 [NCBI36]
Chr19:19q13.32
likely pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32
pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33
likely pathogenic
NM_006247.4(PPP5C):c.448C>T (p.Arg150Trp) single nucleotide variant Inborn genetic diseases [RCV003281158] Chr19:46375688 [GRCh38]
Chr19:46878945 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006247.4(PPP5C):c.160G>T (p.Ala54Ser) single nucleotide variant Inborn genetic diseases [RCV003266905] Chr19:46353786 [GRCh38]
Chr19:46857043 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
GRCh37/hg19 19q13.32(chr19:46645877-46868805)x1 copy number loss not provided [RCV001259942] Chr19:46645877..46868805 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.139G>A (p.Ala47Thr) single nucleotide variant not provided [RCV002282718] Chr19:46353765 [GRCh38]
Chr19:46857022 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.58C>G (p.Pro20Ala) single nucleotide variant Inborn genetic diseases [RCV003260668] Chr19:46347154 [GRCh38]
Chr19:46850411 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.426C>G (p.Ile142Met) single nucleotide variant Inborn genetic diseases [RCV002754499] Chr19:46375666 [GRCh38]
Chr19:46878923 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.362C>T (p.Thr121Met) single nucleotide variant Inborn genetic diseases [RCV002864412] Chr19:46353988 [GRCh38]
Chr19:46857245 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.184G>A (p.Ala62Thr) single nucleotide variant Inborn genetic diseases [RCV002783415] Chr19:46353810 [GRCh38]
Chr19:46857067 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.41C>G (p.Pro14Arg) single nucleotide variant Inborn genetic diseases [RCV002662240] Chr19:46347137 [GRCh38]
Chr19:46850394 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.463G>A (p.Asp155Asn) single nucleotide variant Inborn genetic diseases [RCV003001220] Chr19:46375703 [GRCh38]
Chr19:46878960 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.391G>T (p.Asp131Tyr) single nucleotide variant Inborn genetic diseases [RCV002713458] Chr19:46375631 [GRCh38]
Chr19:46878888 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.1409G>A (p.Arg470Gln) single nucleotide variant Inborn genetic diseases [RCV003004844] Chr19:46390104 [GRCh38]
Chr19:46893361 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.1228G>A (p.Val410Ile) single nucleotide variant Inborn genetic diseases [RCV002874834] Chr19:46388604 [GRCh38]
Chr19:46891861 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.1475C>T (p.Thr492Met) single nucleotide variant Inborn genetic diseases [RCV002641026] Chr19:46390321 [GRCh38]
Chr19:46893578 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.946G>A (p.Glu316Lys) single nucleotide variant Inborn genetic diseases [RCV002954588] Chr19:46387134 [GRCh38]
Chr19:46890391 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.224C>T (p.Thr75Ile) single nucleotide variant Inborn genetic diseases [RCV002940474] Chr19:46353850 [GRCh38]
Chr19:46857107 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.68G>A (p.Gly23Glu) single nucleotide variant Inborn genetic diseases [RCV002898448] Chr19:46347164 [GRCh38]
Chr19:46850421 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.1036G>A (p.Gly346Ser) single nucleotide variant Inborn genetic diseases [RCV003193276] Chr19:46387224 [GRCh38]
Chr19:46890481 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.59C>T (p.Pro20Leu) single nucleotide variant Inborn genetic diseases [RCV003355036] Chr19:46347155 [GRCh38]
Chr19:46850412 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_006247.4(PPP5C):c.458C>G (p.Ala153Gly) single nucleotide variant PPP5C-related condition [RCV003400125] Chr19:46375698 [GRCh38]
Chr19:46878955 [GRCh37]
Chr19:19q13.32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5151
Count of miRNA genes:1068
Interacting mature miRNAs:1363
Transcripts:ENST00000012443, ENST00000391919, ENST00000467502, ENST00000467902, ENST00000478046, ENST00000486994, ENST00000487483, ENST00000491003, ENST00000492109, ENST00000493347, ENST00000525507, ENST00000527193, ENST00000527623, ENST00000532058, ENST00000595055
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
AW558946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371946,893,577 - 46,893,720UniSTSGRCh37
Build 361951,585,417 - 51,585,560RGDNCBI36
Celera1943,698,569 - 43,698,712RGD
HuRef1943,320,945 - 43,321,088UniSTS
MARC_24308-24309:1030110035:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371946,878,918 - 46,879,811UniSTSGRCh37
GRCh371947,028,940 - 47,030,272UniSTSGRCh37
Build 361951,570,758 - 51,571,651RGDNCBI36
Celera1943,832,458 - 43,833,790UniSTS
Celera1943,683,911 - 43,684,804RGD
HuRef1943,306,311 - 43,307,204UniSTS
HuRef1943,453,992 - 43,455,324UniSTS


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 2434 2438 1627 528 1453 370 4356 2118 3560 387 1447 1606 175 1 1204 2787 5 2
Low 5 553 99 96 497 95 1 79 174 32 13 7 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA545760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000012443   ⟹   ENSP00000012443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,347,087 - 46,390,975 (+)Ensembl
RefSeq Acc Id: ENST00000391919   ⟹   ENSP00000375786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,347,108 - 46,390,852 (+)Ensembl
RefSeq Acc Id: ENST00000467502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,383,156 - 46,387,935 (+)Ensembl
RefSeq Acc Id: ENST00000467902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,375,604 - 46,376,703 (+)Ensembl
RefSeq Acc Id: ENST00000478046   ⟹   ENSP00000434329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,347,101 - 46,392,981 (+)Ensembl
RefSeq Acc Id: ENST00000486994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,382,772 - 46,390,746 (+)Ensembl
RefSeq Acc Id: ENST00000487483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,381,511 - 46,390,846 (+)Ensembl
RefSeq Acc Id: ENST00000491003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,383,794 - 46,390,286 (+)Ensembl
RefSeq Acc Id: ENST00000492109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,384,377 - 46,388,595 (+)Ensembl
RefSeq Acc Id: ENST00000493347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,383,323 - 46,387,164 (+)Ensembl
RefSeq Acc Id: ENST00000525507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,386,718 - 46,390,675 (+)Ensembl
RefSeq Acc Id: ENST00000527193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,375,627 - 46,383,711 (+)Ensembl
RefSeq Acc Id: ENST00000527623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,387,926 - 46,390,610 (+)Ensembl
RefSeq Acc Id: ENST00000532058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,381,726 - 46,383,998 (+)Ensembl
RefSeq Acc Id: ENST00000595055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1946,383,463 - 46,384,943 (+)Ensembl
RefSeq Acc Id: NM_001204284   ⟹   NP_001191213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,347,087 - 46,390,975 (+)NCBI
GRCh371946,850,251 - 46,896,238 (+)NCBI
HuRef1943,278,270 - 43,321,600 (+)ENTREZGENE
CHM1_11946,852,100 - 46,896,253 (+)NCBI
T2T-CHM13v2.01949,174,533 - 49,218,356 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006247   ⟹   NP_006238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,347,087 - 46,390,975 (+)NCBI
GRCh371946,850,251 - 46,896,238 (+)NCBI
Build 361951,542,134 - 51,585,945 (+)NCBI Archive
HuRef1943,278,270 - 43,321,600 (+)ENTREZGENE
CHM1_11946,852,100 - 46,896,253 (+)NCBI
T2T-CHM13v2.01949,174,533 - 49,218,356 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006238   ⟸   NM_006247
- Peptide Label: isoform 1
- UniProtKB: Q16722 (UniProtKB/Swiss-Prot),   Q53XV2 (UniProtKB/Swiss-Prot),   P53041 (UniProtKB/Swiss-Prot),   B2R6R6 (UniProtKB/TrEMBL),   Q53FR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191213   ⟸   NM_001204284
- Peptide Label: isoform 2
- UniProtKB: B2R6R6 (UniProtKB/TrEMBL),   Q53FR0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000434329   ⟸   ENST00000478046
RefSeq Acc Id: ENSP00000375786   ⟸   ENST00000391919
RefSeq Acc Id: ENSP00000012443   ⟸   ENST00000012443
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P53041-F1-model_v2 AlphaFold P53041 1-499 view protein structure

Promoters
RGD ID:12914165
Promoter ID:EPDNEW_H25994
Type:initiation region
Name:PPP5C_1
Description:protein phosphatase 5 catalytic subunit
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
GRCh381946,347,087 - 46,347,147EPDNEW
RGD ID:6795933
Promoter ID:HG_KWN:30331
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000258969,   UC002PEN.1,   UC002PEO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361951,541,949 - 51,542,449 (+)MPROMDB
RGD ID:6851230
Promoter ID:EP73413
Type:single initiation site
Name:HS_PPP5C
Description:Protein phosphatase 5, catalytic subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361951,542,184 - 51,542,244EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9322 AgrOrtholog
COSMIC PPP5C COSMIC
Ensembl Genes ENSG00000011485 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000012443 ENTREZGENE
  ENST00000012443.9 UniProtKB/Swiss-Prot
  ENST00000391919.1 UniProtKB/TrEMBL
  ENST00000478046.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000011485 GTEx
HGNC ID HGNC:9322 ENTREZGENE
Human Proteome Map PPP5C Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP5_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr-sp_prot-phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5536 UniProtKB/Swiss-Prot
NCBI Gene 5536 ENTREZGENE
OMIM 600658 OMIM
PANTHER PTHR45668:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE 5-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33686 PharmGKB
PIRSF PPPtase_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS STPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SER_THR_PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Ac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MU39_HUMAN UniProtKB/TrEMBL
  B2R6R6 ENTREZGENE, UniProtKB/TrEMBL
  H0YDU8_HUMAN UniProtKB/TrEMBL
  P53041 ENTREZGENE, UniProtKB/Swiss-Prot
  Q16722 ENTREZGENE
  Q53FR0 ENTREZGENE, UniProtKB/TrEMBL
  Q53XV2 ENTREZGENE
  Q9BPW0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q16722 UniProtKB/Swiss-Prot
  Q53XV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 PPP5C  protein phosphatase 5 catalytic subunit    protein phosphatase 5, catalytic subunit  Symbol and/or name change 5135510 APPROVED