Human Gene PKM (ENST00000389093.7) from GENCODE V44
  Description: Homo sapiens pyruvate kinase M1/2 (PKM), transcript variant 5, mRNA. (from RefSeq NM_001206797)
RefSeq Summary (NM_001206797): This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011].
Gencode Transcript: ENST00000389093.7
Gencode Gene: ENSG00000067225.21
Transcript (Including UTRs)
   Position: hg38 chr15:72,199,029-72,231,386 Size: 32,358 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr15:72,199,650-72,219,097 Size: 19,448 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:72,199,029-72,231,386)mRNA (may differ from genome)Protein (457 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B4DNK4_HUMAN
DESCRIPTION: RecName: Full=Pyruvate kinase; EC=2.7.1.40;
CATALYTIC ACTIVITY: ATP + pyruvate = ADP + phosphoenolpyruvate.
PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 5/5.
SIMILARITY: Belongs to the pyruvate kinase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PKM
Diseases sorted by gene-association score: pyruvate kinase deficiency (15), acute diarrhea (8), pigmentation disease (7), atrichia with papular lesions (7), linitis plastica (7), gastric diffuse adenocarcinoma (6), kernicterus (6), li-fraumeni syndrome (5), bilirubin metabolic disorder (4), colorectal cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 664.82 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 8863.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.00284-0.482 Picture PostScript Text
3' UTR -199.90621-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001697 - Pyr_Knase
IPR015813 - Pyrv/PenolPyrv_Kinase
IPR011037 - Pyrv_Knase-like_insert_dom
IPR015794 - Pyrv_Knase_a/b
IPR018209 - Pyrv_Knase_AS
IPR015793 - Pyrv_Knase_brl
IPR015795 - Pyrv_Knase_C

Pfam Domains:
PF00224 - Pyruvate kinase, barrel domain
PF02887 - Pyruvate kinase, alpha/beta domain

ModBase Predicted Comparative 3D Structure on B4DNK4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0003824 catalytic activity
GO:0004743 pyruvate kinase activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0030955 potassium ion binding

Biological Process:
GO:0006096 glycolytic process
GO:0016310 phosphorylation


-  Descriptions from all associated GenBank mRNAs
  BC035198 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:9369 IMAGE:3859987), complete cds.
M26252 - Human TCB gene encoding cytosolic thyroid hormone-binding protein, complete cds.
EU794631 - Homo sapiens epididymis secretory protein Li 30 (HEL-S-30) mRNA, complete cds.
HZ489613 - JP 2016020328-A/13: ANTICANCER AGENT.
LX088621 - JP 2017075124-A/1: DRUG SENSITIVITY ENHANCING AGENT FOR CANCER CELL, METHOD FOR PREDICTING DRUG SENSITIVITY, AND DRUG SENSITIVITY BIOMARKER.
BC023592 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone IMAGE:4646848).
BC096823 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone IMAGE:30558692).
BC007640 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:15908 IMAGE:3533876), complete cds.
BC012811 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:3932 IMAGE:2958817), complete cds.
BC000481 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:8698 IMAGE:2964687), complete cds.
BC094767 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:104654 IMAGE:5296639), complete cds.
AK092369 - Homo sapiens cDNA FLJ35050 fis, clone OCBBF2018167, highly similar to Pyruvate kinase isozyme M1 (EC 2.7.1.40).
AK299413 - Homo sapiens cDNA FLJ53645 complete cds, highly similar to Pyruvate kinase isozyme M1 (EC 2.7.1.40).
BC007952 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone MGC:14360 IMAGE:4299213), complete cds.
AK297951 - Homo sapiens cDNA FLJ53368 complete cds, highly similar to Pyruvate kinase isozymes M1/M2 (EC 2.7.1.40).
M23725 - Human M2-type pyruvate kinase mRNA, complete cds.
AK222927 - Homo sapiens mRNA for pyruvate kinase 3 isoform 1 variant, clone: HRC08174.
AK300800 - Homo sapiens cDNA FLJ54554 complete cds, highly similar to Pyruvate kinase isozymes M1/M2 (EC 2.7.1.40).
AK307855 - Homo sapiens cDNA, FLJ97803.
AK294315 - Homo sapiens cDNA FLJ56065 complete cds, highly similar to Pyruvate kinase isozyme M1 (EC 2.7.1.40).
AK309781 - Homo sapiens cDNA, FLJ99822.
AK312253 - Homo sapiens cDNA, FLJ92548, highly similar to Homo sapiens pyruvate kinase, muscle (PKM2), mRNA.
AK308264 - Homo sapiens cDNA, FLJ98212.
Z36831 - H.sapiens (xs25) mRNA, 443bp.
BC035487 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone IMAGE:4779421), with apparent retained intron.
BC051346 - Homo sapiens cDNA clone IMAGE:6461886, **** WARNING: chimeric clone ****.
AF025439 - Homo sapiens Opa-interacting protein OIP3 mRNA, partial cds.
BC019265 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone IMAGE:3503708), partial cds.
BC023328 - Homo sapiens pyruvate kinase, muscle, mRNA (cDNA clone IMAGE:4510296).
BX648597 - Homo sapiens mRNA; cDNA DKFZp686G12209 (from clone DKFZp686G12209).
JD253237 - Sequence 234261 from Patent EP1572962.
JD554754 - Sequence 535778 from Patent EP1572962.
JD120305 - Sequence 101329 from Patent EP1572962.
JD360415 - Sequence 341439 from Patent EP1572962.
JD067018 - Sequence 48042 from Patent EP1572962.
JD186650 - Sequence 167674 from Patent EP1572962.
JD227184 - Sequence 208208 from Patent EP1572962.
JD323231 - Sequence 304255 from Patent EP1572962.
JD385499 - Sequence 366523 from Patent EP1572962.
JD174331 - Sequence 155355 from Patent EP1572962.
JD024294 - Sequence 5318 from Patent EP1572962.
JD030195 - Sequence 11219 from Patent EP1572962.
JD026312 - Sequence 7336 from Patent EP1572962.
JD403809 - Sequence 384833 from Patent EP1572962.
JD021887 - Sequence 2911 from Patent EP1572962.
JD029525 - Sequence 10549 from Patent EP1572962.
JD391000 - Sequence 372024 from Patent EP1572962.
JD540550 - Sequence 521574 from Patent EP1572962.
JD540025 - Sequence 521049 from Patent EP1572962.
JD042742 - Sequence 23766 from Patent EP1572962.
JD047097 - Sequence 28121 from Patent EP1572962.
JD326238 - Sequence 307262 from Patent EP1572962.
JD131573 - Sequence 112597 from Patent EP1572962.
JD369818 - Sequence 350842 from Patent EP1572962.
JD561983 - Sequence 543007 from Patent EP1572962.
JD144965 - Sequence 125989 from Patent EP1572962.
EU832358 - Synthetic construct Homo sapiens clone HAIB:100067387; DKFZo008H1227 pyruvate kinase, muscle protein (PKM2) gene, encodes complete protein.
KJ891817 - Synthetic construct Homo sapiens clone ccsbBroadEn_01211 PKM2 gene, encodes complete protein.
KJ905271 - Synthetic construct Homo sapiens clone ccsbBroadEn_14768 PKM2 gene, encodes complete protein.
KR710112 - Synthetic construct Homo sapiens clone CCSBHm_00009784 PKM (PKM) mRNA, encodes complete protein.
KR710113 - Synthetic construct Homo sapiens clone CCSBHm_00009785 PKM (PKM) mRNA, encodes complete protein.
EU832443 - Synthetic construct Homo sapiens clone HAIB:100067472; DKFZo004H1228 pyruvate kinase, muscle protein (PKM2) gene, encodes complete protein.
DQ892739 - Synthetic construct clone IMAGE:100005369; FLH189257.01X; RZPDo839D0374D pyruvate kinase, muscle (PKM2) gene, encodes complete protein.
EU176742 - Synthetic construct Homo sapiens clone IMAGE:100011510; FLH189256.01L; RZPDo839G10255D pyruvate kinase, muscle (PKM2) gene, encodes complete protein.
AB528306 - Synthetic construct DNA, clone: pF1KB9947, Homo sapiens PKM2 gene for pyruvate kinase, muscle, without stop codon, in Flexi system.
HZ473969 - WO 2016002844-A/83: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ489614 - JP 2016020328-A/14: ANTICANCER AGENT.
JD022966 - Sequence 3990 from Patent EP1572962.
JD022355 - Sequence 3379 from Patent EP1572962.
JD027715 - Sequence 8739 from Patent EP1572962.
JD019461 - Sequence 485 from Patent EP1572962.
JD035609 - Sequence 16633 from Patent EP1572962.
Z36786 - H.sapiens (xs130) mRNA, 260bp.
HZ473968 - WO 2016002844-A/82: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
JD024738 - Sequence 5762 from Patent EP1572962.
JD033454 - Sequence 14478 from Patent EP1572962.
JD027287 - Sequence 8311 from Patent EP1572962.
JD031777 - Sequence 12801 from Patent EP1572962.
HZ473970 - WO 2016002844-A/84: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
JD027499 - Sequence 8523 from Patent EP1572962.
JD031362 - Sequence 12386 from Patent EP1572962.
LF208528 - JP 2014500723-A/16031: Polycomb-Associated Non-Coding RNAs.
MA444105 - JP 2018138019-A/16031: Polycomb-Associated Non-Coding RNAs.
LF377353 - JP 2014500723-A/184856: Polycomb-Associated Non-Coding RNAs.
MA612930 - JP 2018138019-A/184856: Polycomb-Associated Non-Coding RNAs.
LF377352 - JP 2014500723-A/184855: Polycomb-Associated Non-Coding RNAs.
MA612929 - JP 2018138019-A/184855: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00230 - Purine metabolism
hsa00620 - Pyruvate metabolism
hsa01100 - Metabolic pathways
hsa04930 - Type II diabetes mellitus

-  Other Names for This Gene
  Alternate Gene Symbols: B4DNK4, B4DNK4_HUMAN, ENST00000389093.1, ENST00000389093.2, ENST00000389093.3, ENST00000389093.4, ENST00000389093.5, ENST00000389093.6, NM_001206797, uc010ukk.1, uc010ukk.2
UCSC ID: ENST00000389093.7
RefSeq Accession: NM_001206797
Protein: B4DNK4 CCDS: CCDS73752.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.