Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PKLR (pyruvate kinase, liver and RBC)

Identity

HGNC (Hugo) PKLR
LocusID (NCBI) 5313
Atlas_Id 47322
Location 1q22  [Link to chromosome band 1q22]
Location_base_pair Starts at 155259084 and ends at 155271225 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MUC1 (1q22) / PKLR (1q22)MUC1 1q22 / PKLR 1q22

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
AliasesPK1; PKL; PKR; PKRL; 
RPK
GeneCards (Weizmann)PKLR
Ensembl hg19 (Hinxton)ENSG00000143627 [Gene_View]  chr1:155259084-155271225 [Contig_View]  PKLR [Vega]
Ensembl hg38 (Hinxton)ENSG00000143627 [Gene_View]  chr1:155259084-155271225 [Contig_View]  PKLR [Vega]
ICGC DataPortalENSG00000143627
TCGA cBioPortalPKLR
AceView (NCBI)PKLR
Genatlas (Paris)PKLR
WikiGenes5313
SOURCE (Princeton)PKLR
Genetics Home Reference (NIH)PKLR
Genomic and cartography
GoldenPath hg19 (UCSC)PKLR  -     chr1:155259084-155271225 -  1q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PKLR  -     1q22   [Description]    (hg38-Dec_2013)
EnsemblPKLR - 1q22 [CytoView hg19]  PKLR - 1q22 [CytoView hg38]
Mapping of homologs : NCBIPKLR [Mapview hg19]  PKLR [Mapview hg38]
OMIM102900   266200   609712   
Gene and transcription
Genbank (Entrez)AB015983 AK225947 AK298399 BC025737 BF110802
RefSeq transcript (Entrez)NM_000298 NM_181871
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_011677 NT_004487 NW_003315906 NW_004929293
Consensus coding sequences : CCDS (NCBI)PKLR
Cluster EST : UnigeneHs.95990 [ NCBI ]
CGAP (NCI)Hs.95990
Alternative Splicing GalleryENSG00000143627
Gene ExpressionPKLR [ NCBI-GEO ]   PKLR [ EBI - ARRAY_EXPRESS ]   PKLR [ SEEK ]   PKLR [ MEM ]
Gene Expression Viewer (FireBrowse)PKLR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5313
GTEX Portal (Tissue expression)PKLR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30613   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30613  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30613
Splice isoforms : SwissVarP30613
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 ]   
PhosPhoSitePlusP30613
Domaine pattern : Prosite (Expaxy)PYRUVATE_KINASE (PS00110)   
Domains : Interpro (EBI)Pyr_Knase    Pyrv/PenolPyrv_Kinase-like_dom    Pyrv_Knase-like_insert_dom    Pyrv_Knase_a/b    Pyrv_Knase_AS    Pyrv_Knase_brl    Pyrv_Knase_C    Pyrv_Knase_insert_dom   
Domain families : Pfam (Sanger)PK (PF00224)    PK_C (PF02887)   
Domain families : Pfam (NCBI)pfam00224    pfam02887   
Conserved Domain (NCBI)PKLR
DMDM Disease mutations5313
Blocks (Seattle)PKLR
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   
Structural Biology KnowledgeBase2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
SCOP (Structural Classification of Proteins)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
CATH (Classification of proteins structures)2VGB    2VGF    2VGG    2VGI    4IMA    4IP7   
SuperfamilyP30613
Human Protein AtlasENSG00000143627
Peptide AtlasP30613
HPRD11841
IPIIPI00027165   IPI00941093   IPI00909829   IPI00743713   IPI00973718   
Protein Interaction databases
DIP (DOE-UCLA)P30613
IntAct (EBI)P30613
FunCoupENSG00000143627
BioGRIDPKLR
STRING (EMBL)PKLR
ZODIACPKLR
Ontologies - Pathways
QuickGOP30613
Ontology : AmiGOmagnesium ion binding  response to hypoxia  pyruvate kinase activity  pyruvate kinase activity  ATP binding  cytosol  ATP biosynthetic process  response to nutrient  response to heat  response to glucose  response to lithium ion  kinase activity  potassium ion binding  cellular response to insulin stimulus  response to ATP  pyruvate biosynthetic process  response to cAMP  canonical glycolysis  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  response to hypoxia  pyruvate kinase activity  pyruvate kinase activity  ATP binding  cytosol  ATP biosynthetic process  response to nutrient  response to heat  response to glucose  response to lithium ion  kinase activity  potassium ion binding  cellular response to insulin stimulus  response to ATP  pyruvate biosynthetic process  response to cAMP  canonical glycolysis  extracellular 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   
NDEx NetworkPKLR
Atlas of Cancer Signalling NetworkPKLR
Wikipedia pathwaysPKLR
Orthology - Evolution
OrthoDB5313
GeneTree (enSembl)ENSG00000143627
Phylogenetic Trees/Animal Genes : TreeFamPKLR
HOVERGENP30613
HOGENOMP30613
Homologs : HomoloGenePKLR
Homology/Alignments : Family Browser (UCSC)PKLR
Gene fusions - Rearrangements
Fusion: TCGAMUC1 1q22 PKLR 1q22 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKLR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKLR
dbVarPKLR
ClinVarPKLR
1000_GenomesPKLR 
Exome Variant ServerPKLR
ExAC (Exome Aggregation Consortium)PKLR (select the gene name)
Genetic variants : HAPMAP5313
Genomic Variants (DGV)PKLR [DGVbeta]
DECIPHER (Syndromes)1:155259084-155271225  ENSG00000143627
CONAN: Copy Number AnalysisPKLR 
Mutations
ICGC Data PortalPKLR 
TCGA Data PortalPKLR 
Broad Tumor PortalPKLR
OASIS PortalPKLR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKLR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKLR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PKLR
DgiDB (Drug Gene Interaction Database)PKLR
DoCM (Curated mutations)PKLR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKLR (select a term)
intoGenPKLR
Cancer3DPKLR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102900    266200    609712   
Orphanet3257   
MedgenPKLR
Genetic Testing Registry PKLR
NextProtP30613 [Medical]
TSGene5313
GENETestsPKLR
Huge Navigator PKLR [HugePedia]
snp3D : Map Gene to Disease5313
BioCentury BCIQPKLR
ClinGenPKLR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5313
Chemical/Pharm GKB GenePA33352
Clinical trialPKLR
Miscellaneous
canSAR (ICR)PKLR (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKLR
EVEXPKLR
GoPubMedPKLR
iHOPPKLR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:47:37 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.