PMVK (phosphomevalonate kinase) - Rat Genome Database

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Gene: PMVK (phosphomevalonate kinase) Homo sapiens
Analyze
Symbol: PMVK
Name: phosphomevalonate kinase
RGD ID: 1321931
HGNC Page HGNC:9141
Description: Enables ATP binding activity and phosphomevalonate kinase activity. Involved in cholesterol biosynthetic process and response to cholesterol. Located in cytosol and peroxisome. Implicated in porokeratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hPMK; HUMPMKI; PMK; PMKA; PMKASE; POROK1; testis tissue sperm-binding protein Li 95mP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381154,924,740 - 154,942,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1154,924,740 - 154,936,719 (-)EnsemblGRCh38hg38GRCh38
GRCh371154,897,216 - 154,915,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,163,832 - 153,176,108 (-)NCBINCBI36Build 36hg18NCBI36
Build 341151,710,280 - 151,722,540NCBI
Celera1127,968,233 - 127,980,509 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1126,259,154 - 126,271,445 (-)NCBIHuRef
CHM1_11156,293,587 - 156,305,863 (-)NCBICHM1_1
T2T-CHM13v2.01154,064,101 - 154,082,019 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
afimoxifene  (EXP)
amiodarone  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
ATP  (EXP)
azoxystrobin  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flusilazole  (ISO)
glyphosate  (ISO)
hydralazine  (EXP)
imidacloprid  (ISO)
indole-3-methanol  (ISO)
indometacin  (ISO)
inulin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
pravastatin  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
selenomethionine  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP,ISO)
vorinostat  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA,IEA,TAS)
extracellular exosome  (HDA)
membrane  (HDA)
peroxisome  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Defects of cholesterol biosynthesis. Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
Additional References at PubMed
PMID:8188698   PMID:8663599   PMID:10191291   PMID:12477932   PMID:14680974   PMID:14729858   PMID:15146197   PMID:15489334   PMID:15544330   PMID:16341674   PMID:16519518   PMID:17180682  
PMID:17353931   PMID:17467679   PMID:17902708   PMID:18618710   PMID:18660489   PMID:18798562   PMID:19056867   PMID:19913121   PMID:19946888   PMID:20628086   PMID:20932952   PMID:21873635  
PMID:22544366   PMID:22939629   PMID:23146631   PMID:23376485   PMID:23535732   PMID:24097068   PMID:26186194   PMID:26202976   PMID:26949251   PMID:27052676   PMID:28380382   PMID:28514442  
PMID:28700943   PMID:29128334   PMID:29150431   PMID:29509190   PMID:30033366   PMID:32296183   PMID:32393512   PMID:33729478   PMID:33961781   PMID:34349018   PMID:34373451   PMID:34732716  
PMID:35271311   PMID:35337019   PMID:35439318   PMID:35559673   PMID:35831314   PMID:35944360   PMID:36057605   PMID:36168628   PMID:36215168   PMID:36585568   PMID:36634849   PMID:38036565  
PMID:38334954  


Genomics

Comparative Map Data
PMVK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381154,924,740 - 154,942,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1154,924,740 - 154,936,719 (-)EnsemblGRCh38hg38GRCh38
GRCh371154,897,216 - 154,915,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,163,832 - 153,176,108 (-)NCBINCBI36Build 36hg18NCBI36
Build 341151,710,280 - 151,722,540NCBI
Celera1127,968,233 - 127,980,509 (-)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1126,259,154 - 126,271,445 (-)NCBIHuRef
CHM1_11156,293,587 - 156,305,863 (-)NCBICHM1_1
T2T-CHM13v2.01154,064,101 - 154,082,019 (-)NCBIT2T-CHM13v2.0
Pmvk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,361,848 - 89,376,321 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl389,361,848 - 89,376,320 (+)EnsemblGRCm39 Ensembl
GRCm38389,454,541 - 89,469,014 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,454,541 - 89,469,013 (+)EnsemblGRCm38mm10GRCm38
MGSCv37389,263,040 - 89,272,931 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36389,545,243 - 89,554,933 (+)NCBIMGSCv36mm8
Celera389,494,449 - 89,504,138 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.13NCBI
Pmvk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82177,174,344 - 177,184,076 (+)NCBIGRCr8
mRatBN7.22174,876,586 - 174,886,365 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,876,657 - 174,886,364 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2182,022,396 - 182,031,869 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02180,044,785 - 180,054,258 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02174,645,467 - 174,654,973 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02188,784,329 - 188,793,890 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,784,222 - 188,793,895 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02208,198,238 - 208,207,794 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42181,655,658 - 181,665,214 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12181,605,763 - 181,615,319 (+)NCBI
Celera2168,817,684 - 168,827,240 (+)NCBICelera
Cytogenetic Map2q34NCBI
Pmvk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,421,562 - 1,440,038 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,421,562 - 1,440,038 (-)NCBIChiLan1.0ChiLan1.0
PMVK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2194,903,218 - 94,915,762 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,635,585 - 94,647,862 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01130,273,246 - 130,286,614 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11133,882,837 - 133,894,818 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1133,882,840 - 133,894,818 (-)Ensemblpanpan1.1panPan2
PMVK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1742,532,968 - 42,563,618 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl742,533,217 - 42,540,625 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha742,024,242 - 42,060,899 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0742,403,302 - 42,439,920 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl742,403,373 - 42,414,566 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1742,182,992 - 42,219,593 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0742,236,594 - 42,273,239 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0742,520,185 - 42,556,794 (+)NCBIUU_Cfam_GSD_1.0
Pmvk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505825,443,172 - 25,452,234 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365804,473,359 - 4,482,631 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365804,473,554 - 4,482,396 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMVK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,861,712 - 94,874,771 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,861,500 - 94,913,743 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,634,269 - 103,685,533 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PMVK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,893,297 - 8,906,882 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl208,894,786 - 8,906,873 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660388,229,305 - 8,242,091 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pmvk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248852,543,862 - 2,553,237 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248852,544,136 - 2,552,591 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PMVK
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1 copy number loss See cases [RCV000053912] Chr1:154575689..155292901 [GRCh38]
Chr1:154548165..155262692 [GRCh37]
Chr1:152814789..153529316 [NCBI36]
Chr1:1q21.3-22		 pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_006556.4(PMVK):c.550del (p.Asn183_Leu184insTer) deletion Porokeratosis 1, Mibelli type [RCV004576933] Chr1:154925158 [GRCh38]
Chr1:154897634 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_006556.4(PMVK):c.412C>T (p.Arg138Ter) single nucleotide variant Porokeratosis 1, Mibelli type [RCV004576932] Chr1:154926384 [GRCh38]
Chr1:154898860 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_006556.4(PMVK):c.287T>C (p.Val96Ala) single nucleotide variant PMVK-related disorder [RCV003922692]|not provided [RCV000428291] Chr1:154929049 [GRCh38]
Chr1:154901525 [GRCh37]
Chr1:1q21.3		 benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_006556.4(PMVK):c.*48del deletion not provided [RCV001666834] Chr1:154925081 [GRCh38]
Chr1:154897557 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.96-288T>C single nucleotide variant not provided [RCV001609098] Chr1:154932703 [GRCh38]
Chr1:154905179 [GRCh37]
Chr1:1q21.3		 benign
GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3 copy number gain not provided [RCV001005143] Chr1:154898854..155242457 [GRCh37]
Chr1:1q21.3-22		 uncertain significance
NM_006556.4(PMVK):c.*44T>G single nucleotide variant not provided [RCV001659156] Chr1:154925085 [GRCh38]
Chr1:154897561 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.312+210ATTT[11] microsatellite not provided [RCV001668700] Chr1:154928774..154928775 [GRCh38]
Chr1:154901250..154901251 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.373G>A (p.Val125Met) single nucleotide variant not provided [RCV001537383] Chr1:154926423 [GRCh38]
Chr1:154898899 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.3(PMVK):c.-107T>C single nucleotide variant not provided [RCV001654116] Chr1:154936792 [GRCh38]
Chr1:154909268 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.312+210ATTT[12] microsatellite not provided [RCV001680402] Chr1:154928774..154928775 [GRCh38]
Chr1:154901250..154901251 [GRCh37]
Chr1:1q21.3		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) single nucleotide variant Linear porokeratosis [RCV001849504]|PMVK-related disorder [RCV003399087]|Porokeratosis 1, Mibelli type [RCV003135955]|not provided [RCV001310868] Chr1:154936607 [GRCh38]
Chr1:154909083 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
NM_006556.4(PMVK):c.95+166T>C single nucleotide variant not provided [RCV001355546] Chr1:154936425 [GRCh38]
Chr1:154908901 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.147A>G (p.Glu49=) single nucleotide variant PMVK-related disorder [RCV003984068]|not provided [RCV001688146] Chr1:154932364 [GRCh38]
Chr1:154904840 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.379C>T (p.Gln127Ter) single nucleotide variant Linear porokeratosis [RCV001849672] Chr1:154926417 [GRCh38]
Chr1:154898893 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_006556.4(PMVK):c.329G>A (p.Arg110Gln) single nucleotide variant Linear porokeratosis [RCV001849670] Chr1:154926467 [GRCh38]
Chr1:154898943 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_006556.4(PMVK):c.31G>A (p.Val11Ile) single nucleotide variant Inborn genetic diseases [RCV002749610] Chr1:154936655 [GRCh38]
Chr1:154909131 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.355C>T (p.Arg119Trp) single nucleotide variant Inborn genetic diseases [RCV002687725]|not provided [RCV004697256] Chr1:154926441 [GRCh38]
Chr1:154898917 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.391G>A (p.Val131Ile) single nucleotide variant Inborn genetic diseases [RCV002973430] Chr1:154926405 [GRCh38]
Chr1:154898881 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.565C>T (p.Arg189Cys) single nucleotide variant Inborn genetic diseases [RCV002781842] Chr1:154925143 [GRCh38]
Chr1:154897619 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.223G>C (p.Asp75His) single nucleotide variant Inborn genetic diseases [RCV002898318] Chr1:154929113 [GRCh38]
Chr1:154901589 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.450C>A (p.Asp150Glu) single nucleotide variant Inborn genetic diseases [RCV002897922] Chr1:154925258 [GRCh38]
Chr1:154897734 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.104C>G (p.Ala35Gly) single nucleotide variant Inborn genetic diseases [RCV002714190] Chr1:154932407 [GRCh38]
Chr1:154904883 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.527G>A (p.Arg176His) single nucleotide variant Inborn genetic diseases [RCV002855226] Chr1:154925181 [GRCh38]
Chr1:154897657 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.391G>C (p.Val131Leu) single nucleotide variant Inborn genetic diseases [RCV002718597] Chr1:154926405 [GRCh38]
Chr1:154898881 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_006556.4(PMVK):c.180G>T (p.Gln60His) single nucleotide variant Inborn genetic diseases [RCV003381908] Chr1:154929156 [GRCh38]
Chr1:154901632 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3 copy number gain not provided [RCV003484041] Chr1:154684075..155017913 [GRCh37]
Chr1:1q21.3-22		 uncertain significance
NM_006556.4(PMVK):c.436A>T (p.Thr146Ser) single nucleotide variant not provided [RCV003409076] Chr1:154926360 [GRCh38]
Chr1:154898836 [GRCh37]
Chr1:1q21.3		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_006556.4(PMVK):c.398C>T (p.Ala133Val) single nucleotide variant PMVK-associated autoinflammatory disorder [RCV003986070] Chr1:154926398 [GRCh38]
Chr1:154898874 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3 copy number gain not specified [RCV003986629] Chr1:154089394..154912611 [GRCh37]
Chr1:1q21.3		 uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_006556.4(PMVK):c.437C>T (p.Thr146Met) single nucleotide variant Inborn genetic diseases [RCV004509667] Chr1:154926359 [GRCh38]
Chr1:154898835 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_006556.4(PMVK):c.-8G>A single nucleotide variant PMVK-related disorder [RCV003929619] Chr1:154936693 [GRCh38]
Chr1:154909169 [GRCh37]
Chr1:1q21.3		 benign
NM_006556.4(PMVK):c.413G>T (p.Arg138Leu) single nucleotide variant Inborn genetic diseases [RCV004662379] Chr1:154926383 [GRCh38]
Chr1:154898859 [GRCh37]
Chr1:1q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:258
Count of miRNA genes:225
Interacting mature miRNAs:242
Transcripts:ENST00000368467
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407306661GWAS955637_Hprostate carcinoma QTL GWAS955637 (human)3e-08prostate carcinoma1154938454154938455Human
407158653GWAS807629_HParkinson disease QTL GWAS807629 (human)4e-09Parkinson disease1154925709154925710Human
406941964GWAS590940_Hphosphomevalonate kinase measurement QTL GWAS590940 (human)4e-15phosphomevalonate kinase measurement1154927658154927659Human
407002991GWAS651967_HParkinson disease QTL GWAS651967 (human)3e-09Parkinson disease1154925709154925710Human

Markers in Region
WI-14846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,897,227 - 154,897,375UniSTSGRCh37
Build 361153,163,851 - 153,163,999RGDNCBI36
Celera1127,968,252 - 127,968,400RGD
Cytogenetic Map1q22UniSTS
HuRef1126,259,173 - 126,259,321UniSTS
GeneMap99-GB4 RH Map1557.59UniSTS
GeneMap99-GB4 RH Map1557.49UniSTS
Whitehead-RH Map1682.7UniSTS
NCBI RH Map11385.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF026069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF221848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM793483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ057770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ061044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN344384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L77213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368467   ⟹   ENSP00000357452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1154,924,740 - 154,936,719 (-)Ensembl
RefSeq Acc Id: NM_001323011   ⟹   NP_001309940
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,924,740 - 154,936,719 (-)NCBI
CHM1_11156,293,587 - 156,305,317 (-)NCBI
T2T-CHM13v2.01154,064,101 - 154,076,080 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323012   ⟹   NP_001309941
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,924,740 - 154,942,658 (-)NCBI
CHM1_11156,293,587 - 156,311,501 (-)NCBI
T2T-CHM13v2.01154,064,101 - 154,082,019 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348696   ⟹   NP_001335625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,924,740 - 154,936,719 (-)NCBI
T2T-CHM13v2.01154,064,101 - 154,076,080 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006556   ⟹   NP_006547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,924,740 - 154,936,719 (-)NCBI
GRCh371154,897,208 - 154,909,484 (-)ENTREZGENE
Build 361153,163,832 - 153,176,108 (-)NCBI Archive
HuRef1126,259,154 - 126,271,445 (-)ENTREZGENE
CHM1_11156,293,587 - 156,305,863 (-)NCBI
T2T-CHM13v2.01154,064,101 - 154,076,080 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006547   ⟸   NM_006556
- Peptide Label: isoform 1
- UniProtKB: Q5TZW9 (UniProtKB/Swiss-Prot),   Q15126 (UniProtKB/Swiss-Prot),   Q6FGV9 (UniProtKB/TrEMBL),   D3DV77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309941   ⟸   NM_001323012
- Peptide Label: isoform 3
- UniProtKB: Q6FGV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309940   ⟸   NM_001323011
- Peptide Label: isoform 2
- UniProtKB: Q6FGV9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335625   ⟸   NM_001348696
- Peptide Label: isoform 4
- UniProtKB: Q6FGV9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000357452   ⟸   ENST00000368467

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15126-F1-model_v2 AlphaFold Q15126 1-192 view protein structure

Promoters
RGD ID:6786274
Promoter ID:HG_KWN:5309
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006556
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,175,671 - 153,176,627 (-)MPROMDB
RGD ID:6852910
Promoter ID:EP74273
Type:initiation region
Name:HS_PMVK
Description:Phosphomevalonate kinase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,176,021 - 153,176,081EPD
RGD ID:6857366
Promoter ID:EPDNEW_H1847
Type:initiation region
Name:PMVK_2
Description:phosphomevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1849  EPDNEW_H1848  EPDNEW_H1850  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,936,719 - 154,936,779EPDNEW
RGD ID:6857370
Promoter ID:EPDNEW_H1848
Type:initiation region
Name:PMVK_1
Description:phosphomevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1847  EPDNEW_H1849  EPDNEW_H1850  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,936,924 - 154,936,984EPDNEW
RGD ID:6857368
Promoter ID:EPDNEW_H1849
Type:initiation region
Name:PMVK_3
Description:phosphomevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1847  EPDNEW_H1848  EPDNEW_H1850  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,942,647 - 154,942,707EPDNEW
RGD ID:6857372
Promoter ID:EPDNEW_H1850
Type:initiation region
Name:PMVK_4
Description:phosphomevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1847  EPDNEW_H1849  EPDNEW_H1848  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,945,652 - 154,945,712EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9141 AgrOrtholog
COSMIC PMVK COSMIC
Ensembl Genes ENSG00000163344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368467 ENTREZGENE
  ENST00000368467.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163344 GTEx
HGNC ID HGNC:9141 ENTREZGENE
Human Proteome Map PMVK Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pmev_kin_anim UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10654 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10654 ENTREZGENE
OMIM 607622 OMIM
PANTHER PHOSPHOMEVALONATE KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13101 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P-mevalo_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33465 PharmGKB, RGD
PIRSF PMK_anim UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DV77 ENTREZGENE
  PMVK_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5TZW9 ENTREZGENE
  Q6FGV9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DV77 UniProtKB/TrEMBL
  Q5TZW9 UniProtKB/Swiss-Prot