PKLR (pyruvate kinase L/R) - Rat Genome Database

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Gene: PKLR (pyruvate kinase L/R) Homo sapiens
Analyze
Symbol: PKLR
Name: pyruvate kinase L/R
RGD ID: 737364
HGNC Page HGNC
Description: Predicted to have pyruvate kinase activity. Predicted to be involved in cellular response to insulin stimulus; glycolytic process; and response to other organism. Localizes to extracellular exosome. Implicated in Gaucher's disease; congenital nonspherocytic hemolytic anemia; malaria; pyruvate kinase deficiency of red cells; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PK1; PKL; PKR; PKRL; pyruvate kinase 1; pyruvate kinase isozyme R/L; pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; pyruvate kinase PKLR; pyruvate kinase type L; pyruvate kinase, liver and blood cell; pyruvate kinase, liver and RBC; R-type/L-type pyruvate kinase; red cell/liver pyruvate kinase; RPK
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
GRCh38.p13 Ensembl1155,289,293 - 155,301,438 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,289,293 - 155,301,438 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,259,084 - 155,271,229 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,526,254 - 153,537,835 (-)NCBINCBI36hg18NCBI36
Build 341152,072,702 - 152,084,298NCBI
Celera1128,332,260 - 128,344,368 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1126,621,396 - 126,633,527 (-)NCBIHuRef
CHM1_11156,654,499 - 156,666,666 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bosentan  (EXP)
bromobenzene  (ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
cholesterol  (ISO)
choline  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl maleate  (ISO)
disodium selenite  (ISO)
duvoglustat  (ISO)
endosulfan  (EXP,ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fenofibrate  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
fructose  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
glycerol  (EXP,ISO)
hexadecanoic acid  (EXP)
hydroxyurea  (ISO)
isotretinoin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
leflunomide  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
monosodium L-glutamate  (ISO)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naloxone  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicotine  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
octadecanoic acid  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-anisidine  (ISO)
p-toluidine  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
penconazole  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propamocarb  (ISO)
propane-1,2-diol  (EXP)
propiconazole  (ISO)
Propiverine  (ISO)
prostaglandin E2  (ISO)
quinidine  (ISO)
rifampicin  (EXP)
rotenone  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sucrose  (ISO)
sulforaphane  (ISO)
sulprostone  (ISO)
suxibuzone  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,ISO)
cytosol  (ISO,TAS)
extracellular exosome  (HDA)
plasma membrane  (ISO)

Molecular Function

References

References - curated
1. Andreasen CH, etal., BMC Med Genet. 2008 Dec 26;9:118. doi: 10.1186/1471-2350-9-118.
2. Becker W, etal., J Mol Endocrinol. 2004 Feb;32(1):195-208.
3. Canu G, etal., Blood Cells Mol Dis. 2016 Mar;57:100-9. doi: 10.1016/j.bcmd.2015.12.009. Epub 2016 Jan 12.
4. de Faatima Santana Ferreira Boin I, etal., Acta Cir Bras. 2006;21 Suppl 1:19-23.
5. Gunn JM and Taylor CB, Biochem J. 1973 Nov;136(3):455-65.
6. Hotta K, etal., Biochim Biophys Acta. 1996 Feb 9;1289(1):145-9.
7. Kanno H, etal., Blood. 1992 Mar 1;79(5):1347-50.
8. Kanno H, etal., Blood. 1994 Apr 15;83(8):2311-6.
9. Kanno H, etal., Blood. 1994 Nov 15;84(10):3505-9.
10. Kanno H, etal., Blood. 1995 Oct 15;86(8):3205-10.
11. KEGG
12. Machado P, etal., Br J Haematol. 2010 Jun;149(5):775-84. doi: 10.1111/j.1365-2141.2010.08165.x. Epub 2010 Apr 4.
13. Manco L, etal., Br J Haematol. 2000 Sep;110(4):993-7.
14. Meza NW, etal., Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15.
15. Min-Oo G, etal., Nat Genet. 2003 Dec;35(4):357-62. Epub 2003 Nov 2.
16. Mohammad S, etal., Can J Physiol Pharmacol. 2006 Jun;84(6):647-54.
17. OMIM Disease Annotation Pipeline
18. Pipeline to import KEGG annotations from KEGG into RGD
19. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. Pipeline to import SMPDB annotations from SMPDB into RGD
21. Pissard S, etal., Br J Haematol. 2006 Jun;133(6):683-9.
22. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. RGD automated import pipeline for gene-chemical interactions
24. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
25. Riu E, etal., FASEB J. 2003 Sep;17(12):1715-7. Epub 2003 Jul 18.
26. Rockah R, etal., Am J Med Genet. 1998 Jul 7;78(3):233-6.
27. Wang H, etal., Diabetes. 2002 Sep;51(9):2861-5.
28. Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56.
29. Zhaofan X, etal., Burns. 2002 Nov;28(7):625-30.
Additional References at PubMed
PMID:1445295   PMID:1602151   PMID:1896471   PMID:2018831   PMID:3126495   PMID:3378452   PMID:3566732   PMID:7706479   PMID:8125298   PMID:8180378   PMID:8476433   PMID:8481523  
PMID:8483951   PMID:8524282   PMID:8664896   PMID:8807089   PMID:9057665   PMID:9075576   PMID:9090535   PMID:9482576   PMID:9522120   PMID:9827908   PMID:9886305   PMID:10087985  
PMID:10772876   PMID:11328279   PMID:11459427   PMID:11668614   PMID:11698298   PMID:11916152   PMID:11960989   PMID:12006652   PMID:12107439   PMID:12393511   PMID:12477932   PMID:15489334  
PMID:15491302   PMID:15727904   PMID:15996096   PMID:16289162   PMID:16540430   PMID:17081983   PMID:17192395   PMID:17360088   PMID:17574881   PMID:17977029   PMID:18269685   PMID:18420493  
PMID:18460648   PMID:18624398   PMID:18683378   PMID:18698090   PMID:18726918   PMID:18759866   PMID:18840520   PMID:18976975   PMID:18996102   PMID:19056867   PMID:19085939   PMID:19320443  
PMID:19372549   PMID:19615732   PMID:19655166   PMID:19743919   PMID:20602615   PMID:20682687   PMID:20849852   PMID:20978194   PMID:21700219   PMID:21784452   PMID:21833022   PMID:21873635  
PMID:22001757   PMID:22222284   PMID:23082140   PMID:23263486   PMID:23270483   PMID:23773021   PMID:24330591   PMID:24375447   PMID:24533562   PMID:24550385   PMID:24969675   PMID:25388786  
PMID:25629396   PMID:26186194   PMID:26344197   PMID:26658699   PMID:26728349   PMID:26784545   PMID:26829734   PMID:27342114   PMID:27871768   PMID:28133914   PMID:28319085   PMID:28407397  
PMID:28514442   PMID:28605553   PMID:28700943   PMID:29349879   PMID:30028822   PMID:30463901   PMID:31501420   PMID:31586073   PMID:31623628   PMID:31747117   PMID:32072180   PMID:32296183  
PMID:32449829  


Genomics

Candidate Gene Status
PKLR is a candidate Gene for QTL BW132_H
PKLR is a candidate Gene for QTL GLUCO119_H
PKLR is a candidate Gene for QTL GLUCO133_H
PKLR is a candidate Gene for QTL GLUCO304_H
Comparative Map Data
PKLR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1155,289,293 - 155,301,438 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,289,293 - 155,301,438 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,259,084 - 155,271,229 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,526,254 - 153,537,835 (-)NCBINCBI36hg18NCBI36
Build 341152,072,702 - 152,084,298NCBI
Celera1128,332,260 - 128,344,368 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1126,621,396 - 126,633,527 (-)NCBIHuRef
CHM1_11156,654,499 - 156,666,666 (-)NCBICHM1_1
Pklr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,043,429 - 89,054,122 (+)NCBIGRCm39mm39
GRCm39 Ensembl389,043,449 - 89,054,091 (+)Ensembl
GRCm38389,136,122 - 89,146,815 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,136,142 - 89,146,784 (+)EnsemblGRCm38mm10GRCm38
MGSCv37388,940,064 - 88,950,516 (+)NCBIGRCm37mm9NCBIm37
MGSCv36389,222,069 - 89,231,560 (+)NCBImm8
Celera389,168,271 - 89,180,284 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
Pklr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22174,543,008 - 174,551,863 (+)NCBI
Rnor_6.0 Ensembl2188,449,210 - 188,459,592 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02188,449,158 - 188,458,034 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02207,865,529 - 207,874,394 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42181,214,853 - 181,223,505 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12181,164,961 - 181,173,618 (+)NCBI
Celera2168,486,468 - 168,494,841 (+)NCBICelera
RH 3.4 Map21154.4RGD
Cytogenetic Map2q34NCBI
Pklr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,739,152 - 1,749,632 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,742,432 - 1,749,632 (-)NCBIChiLan1.0ChiLan1.0
PKLR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11134,239,565 - 134,250,957 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,239,565 - 134,251,351 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01130,634,111 - 130,646,644 (-)NCBIMhudiblu_PPA_v0panPan3
PKLR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1742,263,899 - 42,272,770 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl742,263,761 - 42,272,755 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,754,768 - 41,762,716 (+)NCBI
ROS_Cfam_1.0742,132,983 - 42,141,903 (+)NCBI
UMICH_Zoey_3.1741,912,888 - 41,920,846 (+)NCBI
UNSW_CanFamBas_1.0741,966,693 - 41,974,641 (+)NCBI
UU_Cfam_GSD_1.0742,250,696 - 42,258,642 (+)NCBI
Pklr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505825,740,581 - 25,749,528 (-)NCBI
SpeTri2.0NW_0049365804,770,977 - 4,799,316 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKLR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,536,954 - 94,547,591 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,536,978 - 94,546,561 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,324,615 - 103,327,436 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PKLR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,540,228 - 8,547,184 (+)NCBI
ChlSab1.1 Ensembl208,540,763 - 8,545,884 (+)Ensembl
Pklr
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248852,261,850 - 2,272,175 (+)NCBI

Position Markers
D1S1153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,268,703 - 155,269,018UniSTSGRCh37
Build 361153,535,327 - 153,535,642RGDNCBI36
Celera1128,341,869 - 128,342,162RGD
Cytogenetic Map1q21UniSTS
HuRef1126,631,009 - 126,631,322UniSTS
Marshfield Genetic Map1161.05UniSTS
Marshfield Genetic Map1161.05RGD
RH10977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,271,074 - 155,271,197UniSTSGRCh37
Build 361153,537,698 - 153,537,821RGDNCBI36
Celera1128,344,217 - 128,344,340RGD
Cytogenetic Map1q21UniSTS
HuRef1126,633,376 - 126,633,499UniSTS
GeneMap99-GB4 RH Map1553.86UniSTS
GDB:366638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,260,289 - 155,260,442UniSTSGRCh37
Build 361153,526,913 - 153,527,066RGDNCBI36
Celera1128,333,465 - 128,333,618RGD
Cytogenetic Map1q21UniSTS
HuRef1126,622,601 - 126,622,754UniSTS
PKLR__7008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,259,624 - 155,260,264UniSTSGRCh37
Build 361153,526,248 - 153,526,888RGDNCBI36
Celera1128,332,800 - 128,333,440RGD
HuRef1126,621,936 - 126,622,576UniSTS
RH16325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,259,168 - 155,259,309UniSTSGRCh37
Build 361153,525,792 - 153,525,933RGDNCBI36
Celera1128,332,344 - 128,332,485RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,621,480 - 126,621,621UniSTS
GeneMap99-GB4 RH Map1557.49UniSTS
NCBI RH Map11216.1UniSTS
D1S3522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,260,119 - 155,260,243UniSTSGRCh37
Build 361153,526,743 - 153,526,867RGDNCBI36
Celera1128,333,295 - 128,333,419RGD
Cytogenetic Map1q21UniSTS
HuRef1126,622,431 - 126,622,555UniSTS
GeneMap99-GB4 RH Map1557.49UniSTS
NCBI RH Map11213.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1021
Count of miRNA genes:579
Interacting mature miRNAs:638
Transcripts:ENST00000342741, ENST00000392414, ENST00000434082
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 adipose tissue appendage entire extraembryonic component
High
Medium 71 6 374 374 73 374 39 1 125 2 1
Low 326 250 70 66 396 66 1000 10 991 140 402 27 8 463
Below cutoff 1587 2001 1022 136 948 12 2641 1386 2448 59 749 1193 127 991 1797 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB015983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY316591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF110802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H77542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z18922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342741   ⟹   ENSP00000339933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,289,293 - 155,301,438 (-)Ensembl
RefSeq Acc Id: ENST00000392414   ⟹   ENSP00000376214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,289,839 - 155,301,001 (-)Ensembl
RefSeq Acc Id: ENST00000434082   ⟹   ENSP00000398037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,295,135 - 155,300,956 (-)Ensembl
RefSeq Acc Id: NM_000298   ⟹   NP_000289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,289,293 - 155,301,438 (-)NCBI
GRCh371155,259,084 - 155,278,531 (-)NCBI
Build 361153,526,254 - 153,537,835 (-)NCBI Archive
HuRef1126,621,396 - 126,633,527 (-)ENTREZGENE
CHM1_11156,654,499 - 156,666,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181871   ⟹   NP_870986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,289,293 - 155,300,952 (-)NCBI
GRCh371155,259,084 - 155,278,531 (-)NCBI
Build 361153,526,254 - 153,537,370 (-)NCBI Archive
HuRef1126,621,396 - 126,633,527 (-)ENTREZGENE
CHM1_11156,654,499 - 156,666,233 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711386   ⟹   XP_006711449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,290,258 - 155,301,007 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509640   ⟹   XP_011507942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,290,258 - 155,300,984 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001493   ⟹   XP_016856982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,293,475 - 155,301,416 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000289   ⟸   NM_000298
- Peptide Label: isoform 1
- UniProtKB: P30613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_870986   ⟸   NM_181871
- Peptide Label: isoform 2
- UniProtKB: P30613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711449   ⟸   XM_006711386
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507942   ⟸   XM_011509640
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016856982   ⟸   XM_017001493
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000376214   ⟸   ENST00000392414
RefSeq Acc Id: ENSP00000398037   ⟸   ENST00000434082
RefSeq Acc Id: ENSP00000339933   ⟸   ENST00000342741
Protein Domains
PK

Promoters
RGD ID:6786248
Promoter ID:HG_KWN:5388
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000392414,   NM_000298,   NM_181871
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,537,581 - 153,538,081 (-)MPROMDB
RGD ID:6857474
Promoter ID:EPDNEW_H1902
Type:initiation region
Name:PKLR_1
Description:pyruvate kinase, liver and RBC
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1903  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,300,948 - 155,301,008EPDNEW
RGD ID:6857476
Promoter ID:EPDNEW_H1903
Type:initiation region
Name:PKLR_2
Description:pyruvate kinase, liver and RBC
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1902  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,301,433 - 155,301,493EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PKLR, 1-BP DEL deletion Pyruvate kinase deficiency of red cells [RCV000001570] Chr1:1q21 pathogenic
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001571] Chr1:155295457 [GRCh38]
Chr1:155265248 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001572] Chr1:155293556 [GRCh38]
Chr1:155263347 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001573] Chr1:155293446 [GRCh38]
Chr1:155263237 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001574]|none provided [RCV000506807] Chr1:155293177 [GRCh38]
Chr1:155262968 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001575]|none provided [RCV001000208]|not provided [RCV000224660] Chr1:155291845 [GRCh38]
Chr1:155261636 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.110G>A (p.Gly37Glu) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV000001576] Chr1:155300271 [GRCh38]
Chr1:155270062 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV000762857]|Adenosine triphosphate, elevated, of erythrocytes [RCV000991156]|Pyruvate kinase deficiency of red cells [RCV000001577]|none provided [RCV001000050]|not provided [RCV000724015] Chr1:155291918 [GRCh38]
Chr1:155261709 [GRCh37]
Chr1:1q22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001578] Chr1:155295555 [GRCh38]
Chr1:155265346 [GRCh37]
Chr1:1q22
pathogenic
PKLR, -83G-C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001579] Chr1:1q21 pathogenic
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001580] Chr1:155293295 [GRCh38]
Chr1:155263086 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000001581] Chr1:155293438 [GRCh38]
Chr1:155263229 [GRCh37]
Chr1:1q22
pathogenic
PKLR, 1-BP DEL, 823G deletion Pyruvate kinase deficiency of red cells [RCV000001582] Chr1:1q21 pathogenic
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000778187] Chr1:155294504 [GRCh38]
Chr1:155264295 [GRCh37]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q22(chr1:155182457-155787428)x3 copy number gain See cases [RCV000051164] Chr1:155182457..155787428 [GRCh38]
Chr1:155154933..155757219 [GRCh37]
Chr1:153421557..154023843 [NCBI36]
Chr1:1q22
uncertain 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
NM_000298.5(PKLR):c.1159G>A (p.Glu387Lys) single nucleotide variant Malignant melanoma [RCV000059911] Chr1:155293548 [GRCh38]
Chr1:155263339 [GRCh37]
Chr1:153529963 [NCBI36]
Chr1:1q22
not provided
NM_000298.5(PKLR):c.751G>A (p.Gly251Ser) single nucleotide variant Malignant melanoma [RCV000064192] Chr1:155294696 [GRCh38]
Chr1:155264487 [GRCh37]
Chr1:153531111 [NCBI36]
Chr1:1q22
not provided
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001334373]|none provided [RCV001285029] Chr1:155294633 [GRCh38]
Chr1:155264424 [GRCh37]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3 copy number gain See cases [RCV000140157] Chr1:155006546..155464263 [GRCh38]
Chr1:154979022..155434054 [GRCh37]
Chr1:153245646..153700678 [NCBI36]
Chr1:1q21.3-22
uncertain significance
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_000298.6(PKLR):c.*1041C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000265345] Chr1:155289531 [GRCh38]
Chr1:155259322 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV000762858]|Pyruvate kinase deficiency of red cells [RCV000261579]|none provided [RCV001287448]|not provided [RCV000295664] Chr1:155294726 [GRCh38]
Chr1:155264517 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.909G>C (p.Pro303=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000274671] Chr1:155294538 [GRCh38]
Chr1:155264329 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000283593] Chr1:155300260 [GRCh38]
Chr1:155270051 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000268968] Chr1:155293457 [GRCh38]
Chr1:155263248 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.181C>T (p.Leu61=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000378310]|not provided [RCV000952457] Chr1:155300200 [GRCh38]
Chr1:155269991 [GRCh37]
Chr1:1q22
benign|likely benign|uncertain significance
NM_000298.6(PKLR):c.918C>A (p.His306Gln) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000369340] Chr1:155294529 [GRCh38]
Chr1:155264320 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000374958] Chr1:155294720 [GRCh38]
Chr1:155264511 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000364066] Chr1:155293248 [GRCh38]
Chr1:155263039 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.111G>T (p.Gly37=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000348200] Chr1:155300270 [GRCh38]
Chr1:155270061 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000358170]|not provided [RCV000901437] Chr1:155290611 [GRCh38]
Chr1:155260402 [GRCh37]
Chr1:1q22
benign|likely benign|uncertain significance
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV000764981]|Pyruvate kinase deficiency of red cells [RCV001095923]|none provided [RCV000999757]|not provided [RCV000224042] Chr1:155291858 [GRCh38]
Chr1:155261649 [GRCh37]
Chr1:1q22
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000298.6(PKLR):c.790C>T (p.Leu264=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000329780] Chr1:155294657 [GRCh38]
Chr1:155264448 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.965+12G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000333362] Chr1:155294470 [GRCh38]
Chr1:155264261 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*13T>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000343077] Chr1:155290559 [GRCh38]
Chr1:155260350 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.639G>T (p.Val213=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000316886] Chr1:155295171 [GRCh38]
Chr1:155264962 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000309349]|not specified [RCV001002032] Chr1:155291906 [GRCh38]
Chr1:155261697 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*14C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000279687] Chr1:155290558 [GRCh38]
Chr1:155260349 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*13T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000403090]|none provided [RCV001286806]|not specified [RCV000243093] Chr1:155290559 [GRCh38]
Chr1:155260350 [GRCh37]
Chr1:1q22
benign
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000303415]|none provided [RCV001281784]|not specified [RCV000247864] Chr1:155290592 [GRCh38]
Chr1:155260383 [GRCh37]
Chr1:1q22
benign
NM_000298.6(PKLR):c.*582G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000381171] Chr1:155289990 [GRCh38]
Chr1:155259781 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*1040G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000320335] Chr1:155289532 [GRCh38]
Chr1:155259323 [GRCh37]
Chr1:1q22
benign
NM_000298.6(PKLR):c.*1067T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000360017] Chr1:155289505 [GRCh38]
Chr1:155259296 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.6G>A (p.Ser2=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000405950] Chr1:155301390 [GRCh38]
Chr1:155271181 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*342C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000292686] Chr1:155290230 [GRCh38]
Chr1:155260021 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*346_*348del deletion Pyruvate kinase deficiency of red cells [RCV000386993] Chr1:155290224..155290226 [GRCh38]
Chr1:155260015..155260017 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.-26C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000308435] Chr1:155301421 [GRCh38]
Chr1:155271212 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*893T>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000365684] Chr1:155289679 [GRCh38]
Chr1:155259470 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*267C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000392149] Chr1:155290305 [GRCh38]
Chr1:155260096 [GRCh37]
Chr1:1q22
benign
NM_000298.6(PKLR):c.*499G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000296135] Chr1:155290073 [GRCh38]
Chr1:155259864 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*866T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000271129] Chr1:155289706 [GRCh38]
Chr1:155259497 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000490506] Chr1:155293234 [GRCh38]
Chr1:155263025 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*351T>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000332463] Chr1:155290221 [GRCh38]
Chr1:155260012 [GRCh37]
Chr1:1q22
uncertain significance
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
NM_000298.6(PKLR):c.*275C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000338287] Chr1:155290297 [GRCh38]
Chr1:155260088 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.391_393del (p.Ile131del) deletion Pyruvate kinase deficiency of red cells [RCV000371504] Chr1:155295551..155295553 [GRCh38]
Chr1:155265342..155265344 [GRCh37]
Chr1:1q22
likely pathogenic
NM_000298.6(PKLR):c.284-9T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000287244] Chr1:155295765 [GRCh38]
Chr1:155265556 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV000764980]|not provided [RCV000522980] Chr1:155291760 [GRCh38]
Chr1:155261551 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*779C>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000326130] Chr1:155289793 [GRCh38]
Chr1:155259584 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000342304] Chr1:155300193 [GRCh38]
Chr1:155269984 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099489] Chr1:155294716 [GRCh38]
Chr1:155264507 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.507+14C>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099490] Chr1:155295423 [GRCh38]
Chr1:155265214 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099491] Chr1:155295439 [GRCh38]
Chr1:155265230 [GRCh37]
Chr1:1q22
uncertain significance
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
NC_000001.11:g.(?_155282411)_(155323834_?)del deletion not provided [RCV000816636] Chr1:155282411..155323834 [GRCh38]
Chr1:155252202..155293625 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.994G>A (p.Gly332Ser) single nucleotide variant not provided [RCV000757661] Chr1:155294357 [GRCh38]
Chr1:155264148 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000768418] Chr1:155294284 [GRCh38]
Chr1:155264075 [GRCh37]
Chr1:1q22
likely pathogenic
NM_000298.6(PKLR):c.507+1G>A single nucleotide variant not specified [RCV001000766] Chr1:155295436 [GRCh38]
Chr1:155265227 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.101-1G>A single nucleotide variant not specified [RCV001002001] Chr1:155300281 [GRCh38]
Chr1:155270072 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) single nucleotide variant not provided [RCV000733378] Chr1:155291822 [GRCh38]
Chr1:155261613 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln) single nucleotide variant not specified [RCV000508434] Chr1:155291911 [GRCh38]
Chr1:155261702 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000625798] Chr1:155295709 [GRCh38]
Chr1:155265500 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000714615] Chr1:155291863 [GRCh38]
Chr1:155261654 [GRCh37]
Chr1:1q22
likely pathogenic
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000778186] Chr1:155294270 [GRCh38]
Chr1:155264061 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.507G>A (p.Gly169=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000778188]|none provided [RCV001286360] Chr1:155295437 [GRCh38]
Chr1:155265228 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) single nucleotide variant not specified [RCV001002383] Chr1:155293235 [GRCh38]
Chr1:155263026 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr) single nucleotide variant Hemolytic anemia [RCV001003791] Chr1:155293322 [GRCh38]
Chr1:155263113 [GRCh37]
Chr1:1q22
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_000298.6(PKLR):c.1117-13C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095927] Chr1:155293603 [GRCh38]
Chr1:155263394 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.993C>T (p.Asp331=) single nucleotide variant not provided [RCV000898749] Chr1:155294358 [GRCh38]
Chr1:155264149 [GRCh37]
Chr1:1q22
likely benign
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097711]|not provided [RCV000946502]|not specified [RCV001001692] Chr1:155294618 [GRCh38]
Chr1:155264409 [GRCh37]
Chr1:1q22
likely benign|uncertain significance
NM_000298.6(PKLR):c.1619-6C>T single nucleotide variant not provided [RCV000922588] Chr1:155290684 [GRCh38]
Chr1:155260475 [GRCh37]
Chr1:1q22
likely benign
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001007616] Chr1:155294269 [GRCh38]
Chr1:155264060 [GRCh37]
Chr1:1q22
likely pathogenic
NM_000298.6(PKLR):c.1269+43T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV000986426]|none provided [RCV001285927] Chr1:155293395 [GRCh38]
Chr1:155263186 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.972T>C (p.Asp324=) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097708] Chr1:155294379 [GRCh38]
Chr1:155264170 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.966-12C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097710] Chr1:155294397 [GRCh38]
Chr1:155264188 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.-31G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001096026] Chr1:155301426 [GRCh38]
Chr1:155271217 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095924] Chr1:155291917 [GRCh38]
Chr1:155261708 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1607G>T (p.Gly536Val) single nucleotide variant not provided [RCV000994122] Chr1:155291767 [GRCh38]
Chr1:155261558 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.376-11C>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001101481] Chr1:155295579 [GRCh38]
Chr1:155265370 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1079G>A (p.Cys360Tyr) single nucleotide variant not provided [RCV001091727] Chr1:155294272 [GRCh38]
Chr1:155264063 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001096025]|none provided [RCV001287155] Chr1:155301304 [GRCh38]
Chr1:155271095 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.375+10G>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001101482]|none provided [RCV001289725] Chr1:155295655 [GRCh38]
Chr1:155265446 [GRCh37]
Chr1:1q22
benign|likely benign
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099492] Chr1:155295453 [GRCh38]
Chr1:155265244 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095922] Chr1:155291822 [GRCh38]
Chr1:155261613 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095925] Chr1:155293310 [GRCh38]
Chr1:155263101 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.799C>T (p.Gln267Ter) single nucleotide variant not provided [RCV000994123] Chr1:155294648 [GRCh38]
Chr1:155264439 [GRCh37]
Chr1:1q22
pathogenic|likely pathogenic
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) single nucleotide variant none provided [RCV001286977] Chr1:155293178 [GRCh38]
Chr1:155262969 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*356T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099379] Chr1:155290216 [GRCh38]
Chr1:155260007 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097707] Chr1:155294263 [GRCh38]
Chr1:155264054 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097709] Chr1:155294385 [GRCh38]
Chr1:155264176 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*14C>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001101365] Chr1:155290558 [GRCh38]
Chr1:155260349 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*735A>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099377] Chr1:155289837 [GRCh38]
Chr1:155259628 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) single nucleotide variant not specified [RCV001001091] Chr1:155294276 [GRCh38]
Chr1:155264067 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.302T>C (p.Val101Ala) single nucleotide variant not specified [RCV001001145] Chr1:155295738 [GRCh38]
Chr1:155265529 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.380A>G (p.His127Arg) single nucleotide variant not specified [RCV001002382] Chr1:155295564 [GRCh38]
Chr1:155265355 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.379C>G (p.His127Asp) single nucleotide variant not specified [RCV001002644] Chr1:155295565 [GRCh38]
Chr1:155265356 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*500C>T single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099378] Chr1:155290072 [GRCh38]
Chr1:155259863 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001099488] Chr1:155294642 [GRCh38]
Chr1:155264433 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*1105G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097615] Chr1:155289467 [GRCh38]
Chr1:155259258 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.169C>T (p.Gln57Ter) single nucleotide variant not specified [RCV001000991] Chr1:155300212 [GRCh38]
Chr1:155270003 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.100+407G>T single nucleotide variant not specified [RCV001001054] Chr1:155300889 [GRCh38]
Chr1:155270680 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001101483] Chr1:155300259 [GRCh38]
Chr1:155270050 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001101366]|none provided [RCV001285188] Chr1:155290591 [GRCh38]
Chr1:155260382 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*755T>C single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001097616] Chr1:155289817 [GRCh38]
Chr1:155259608 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.*1277G>A single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095825] Chr1:155289295 [GRCh38]
Chr1:155259086 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1117-4C>G single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001095926] Chr1:155293594 [GRCh38]
Chr1:155263385 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1388C>T (p.Ala463Val) single nucleotide variant none provided [RCV001286061] Chr1:155293225 [GRCh38]
Chr1:155263016 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1049T>C (p.Phe350Ser) single nucleotide variant none provided [RCV001286204] Chr1:155294302 [GRCh38]
Chr1:155264093 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.341T>C (p.Ile114Thr) single nucleotide variant none provided [RCV001286641] Chr1:155295699 [GRCh38]
Chr1:155265490 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) single nucleotide variant Pyruvate kinase deficiency of red cells [RCV001262945] Chr1:155291780 [GRCh38]
Chr1:155261571 [GRCh37]
Chr1:1q22
pathogenic
NM_000298.6(PKLR):c.1272T>G (p.Ile424Met) single nucleotide variant none provided [RCV001287731] Chr1:155293341 [GRCh38]
Chr1:155263132 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1270-15T>G single nucleotide variant none provided [RCV001289797] Chr1:155293358 [GRCh38]
Chr1:155263149 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1270-11G>A single nucleotide variant none provided [RCV001287718] Chr1:155293354 [GRCh38]
Chr1:155263145 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) single nucleotide variant none provided [RCV001287717] Chr1:155290627 [GRCh38]
Chr1:155260418 [GRCh37]
Chr1:1q22
uncertain significance
NM_000298.6(PKLR):c.86T>C (p.Ile29Thr) single nucleotide variant none provided [RCV001286688] Chr1:155301310 [GRCh38]
Chr1:155271101 [GRCh37]
Chr1:1q22
uncertain significance
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_000298.6(PKLR):c.1469G>A (p.Arg490Gln) single nucleotide variant Adenosine triphosphate, elevated, of erythrocytes [RCV001331143] Chr1:155291905 [GRCh38]
Chr1:155261696 [GRCh37]
Chr1:1q22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9020 AgrOrtholog
COSMIC PKLR COSMIC
Ensembl Genes ENSG00000143627 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000339933 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398037 UniProtKB/TrEMBL
  ENSP00000459447 UniProtKB/TrEMBL
  ENSP00000459921 UniProtKB/Swiss-Prot
  ENSP00000461487 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342741 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392414 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434082 UniProtKB/TrEMBL
  ENST00000571194 UniProtKB/Swiss-Prot
  ENST00000572740 UniProtKB/Swiss-Prot
  ENST00000573938 UniProtKB/TrEMBL
Gene3D-CATH 2.40.33.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.20.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1380.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143627 GTEx
  ENSG00000262785 GTEx
HGNC ID HGNC:9020 ENTREZGENE
Human Proteome Map PKLR Human Proteome Map
InterPro Pyr_Knase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv/PenolPyrv_Kinase-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_Knase-like_insert_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_Knase_AS UniProtKB/Swiss-Prot
  Pyrv_Knase_brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_Knase_C UniProtKB/Swiss-Prot
  Pyrv_Knase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_Knase_insert_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5313 UniProtKB/Swiss-Prot
NCBI Gene 5313 ENTREZGENE
OMIM 102900 OMIM
  266200 OMIM
  609712 OMIM
PANTHER PTHR11817 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00224 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PK_C UniProtKB/Swiss-Prot
PharmGKB PA33352 PharmGKB
PRINTS PYRUVTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PYRUVATE_KINASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50800 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51621 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52935 UniProtKB/Swiss-Prot
TIGRFAMs pyruv_kin UniProtKB/Swiss-Prot
UniProt A0A0G2JLC7_HUMAN UniProtKB/TrEMBL
  A0A4D6DDB2_HUMAN UniProtKB/TrEMBL
  A0A4D6DDG8_HUMAN UniProtKB/TrEMBL
  A0A4D6DDP3_HUMAN UniProtKB/TrEMBL
  F8W6W2_HUMAN UniProtKB/TrEMBL
  KPYR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O75758 UniProtKB/Swiss-Prot
  P11973 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 PKLR  pyruvate kinase L/R  PKLR  pyruvate kinase, liver and RBC  Symbol and/or name change 5135510 APPROVED