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PKLR (pyruvate kinase, liver and RBC)

Identity

Other namesPK1
PKL
PKR
PKRL
RPK
HGNC (Hugo) PKLR
LocusID (NCBI) 5313
Location 1q22
Location_base_pair Starts at 155259084 and ends at 155271225 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PKLR   9020
Cards
Entrez_Gene (NCBI)PKLR  5313  pyruvate kinase, liver and RBC
GeneCards (Weizmann)PKLR
Ensembl (Hinxton)ENSG00000143627 [Gene_View]  chr1:155259084-155271225 [Contig_View]  PKLR [Vega]
ICGC DataPortalENSG00000143627
cBioPortalPKLR
AceView (NCBI)PKLR
Genatlas (Paris)PKLR
WikiGenes5313
SOURCE (Princeton)NM_000298 NM_181871
Genomic and cartography
GoldenPath (UCSC)PKLR  -  1q22   chr1:155259084-155271225 -  1q22   [Description]    (hg19-Feb_2009)
EnsemblPKLR - 1q22 [CytoView]
Mapping of homologs : NCBIPKLR [Mapview]
OMIM102900   266200   609712   
Gene and transcription
Genbank (Entrez)AB015983 AK225947 AK298399 BC025737 BF110802
RefSeq transcript (Entrez)NM_000298 NM_181871
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_011677 NT_004487 NW_001838531 NW_003315906 NW_004929293
Consensus coding sequences : CCDS (NCBI)PKLR
Cluster EST : UnigeneHs.95990 [ NCBI ]
CGAP (NCI)Hs.95990
Alternative Splicing : Fast-db (Paris)GSHG0002587
Alternative Splicing GalleryENSG00000143627
Gene ExpressionPKLR [ NCBI-GEO ]     PKLR [ SEEK ]   PKLR [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30613 (Uniprot)
NextProtP30613  [Medical]
With graphics : InterProP30613
Splice isoforms : SwissVarP30613 (Swissvar)
Catalytic activity : Enzyme2.7.1.40 [ Enzyme-Expasy ]   2.7.1.402.7.1.40 [ IntEnz-EBI ]   2.7.1.40 [ BRENDA ]   2.7.1.40 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PYRUVATE_KINASE (PS00110)   
Domains : Interpro (EBI)Pyr_Knase [organisation]   Pyrv/PenolPyrv_Kinase-like_dom [organisation]   Pyrv_Knase-like_insert_dom [organisation]   Pyrv_Knase_a/b [organisation]   Pyrv_Knase_AS [organisation]   Pyrv_Knase_brl [organisation]   Pyrv_Knase_C [organisation]   Pyrv_Knase_insert_dom [organisation]  
Related proteins : CluSTrP30613
Domain families : Pfam (Sanger)PK (PF00224)    PK_C (PF02887)   
Domain families : Pfam (NCBI)pfam00224    pfam02887   
DMDM Disease mutations5313
Blocks (Seattle)P30613
PDB (SRS)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
PDB (PDBSum)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
PDB (IMB)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
PDB (RSDB)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
Human Protein AtlasENSG00000143627 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP30613
HPRD11841
IPIIPI00027165   IPI00941093   IPI00909829   IPI00743713   IPI00973718   
Protein Interaction databases
DIP (DOE-UCLA)P30613
IntAct (EBI)P30613
FunCoupENSG00000143627
BioGRIDPKLR
InParanoidP30613
Interologous Interaction database P30613
IntegromeDBPKLR
STRING (EMBL)PKLR
Ontologies - Pathways
Ontology : AmiGOmagnesium ion binding  response to hypoxia  pyruvate kinase activity  ATP binding  cytosol  carbohydrate metabolic process  glucose metabolic process  glycolytic process  glycolytic process  energy reserve metabolic process  ATP biosynthetic process  response to nutrient  response to heat  response to glucose  response to lithium ion  phosphorylation  potassium ion binding  endocrine pancreas development  positive regulation of cellular metabolic process  cellular response to insulin stimulus  response to ATP  pyruvate biosynthetic process  small molecule metabolic process  response to cAMP  response to other organism  extracellular vesicular exosome  
Ontology : EGO-EBImagnesium ion binding  response to hypoxia  pyruvate kinase activity  ATP binding  cytosol  carbohydrate metabolic process  glucose metabolic process  glycolytic process  glycolytic process  energy reserve metabolic process  ATP biosynthetic process  response to nutrient  response to heat  response to glucose  response to lithium ion  phosphorylation  potassium ion binding  endocrine pancreas development  positive regulation of cellular metabolic process  cellular response to insulin stimulus  response to ATP  pyruvate biosynthetic process  small molecule metabolic process  response to cAMP  response to other organism  extracellular vesicular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    Purine metabolism    Pyruvate metabolism    Insulin signaling pathway    Type II diabetes mellitus    Non-alcoholic fatty liver disease (NAFLD)    Maturity onset diabetes of the young   
Protein Interaction DatabasePKLR
Wikipedia pathwaysPKLR
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PKLR
snp3D : Map Gene to Disease5313
SNP (GeneSNP Utah)PKLR
SNP : HGBasePKLR
Genetic variants : HAPMAPPKLR
Exome VariantPKLR
1000_GenomesPKLR 
ICGC programENSG00000143627 
Somatic Mutations in Cancer : COSMICPKLR 
CONAN: Copy Number AnalysisPKLR 
Mutations and Diseases : HGMDPKLR
Mutations and Diseases : intOGenPKLR
Genomic VariantsPKLR  PKLR [DGVbeta]
dbVarPKLR
ClinVarPKLR
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM102900    266200    609712   
MedgenPKLR
GENETestsPKLR
Disease Genetic AssociationPKLR
Huge Navigator PKLR [HugePedia]  PKLR [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePKLR
Homology/Alignments : Family Browser (UCSC)PKLR
Phylogenetic Trees/Animal Genes : TreeFamPKLR
Chemical/Protein Interactions : CTD5313
Chemical/Pharm GKB GenePA33352
Clinical trialPKLR
Cancer Resource (Charite)ENSG00000143627
Other databases
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
CoreMinePKLR
iHOPPKLR
OncoSearchPKLR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:59:52 CEST 2014

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