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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

Donate (in Euros)

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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 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
cBioPortalPKLR
AceView (NCBI)PKLR
Genatlas (Paris)PKLR
WikiGenes5313
SOURCE (Princeton)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)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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    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   
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
Peptide AtlasP30613
HPRD11841
IPIIPI00027165   IPI00941093   IPI00909829   IPI00743713   IPI00973718   
Protein Interaction databases
DIP (DOE-UCLA)P30613
IntAct (EBI)P30613
FunCoupENSG00000143627
BioGRIDPKLR
IntegromeDBPKLR
STRING (EMBL)PKLR
Ontologies - Pathways
QuickGOP30613
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
DoCM (Curated mutations)PKLR
Wikipedia pathwaysPKLR
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPKLR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKLR
dbVarPKLR
ClinVarPKLR
1000_GenomesPKLR 
Exome Variant ServerPKLR
SNP (GeneSNP Utah)PKLR
SNP : HGBasePKLR
Genetic variants : HAPMAPPKLR
Genomic Variants (DGV)PKLR [DGVbeta]
Mutations
ICGC Data PortalENSG00000143627 
Somatic Mutations in Cancer : COSMICPKLR 
CONAN: Copy Number AnalysisPKLR 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:155259084-155271225
Mutations and Diseases : HGMDPKLR
OMIM102900    266200    609712   
MedgenPKLR
NextProtP30613 [Medical]
GENETestsPKLR
Disease Genetic AssociationPKLR
Huge Navigator PKLR [HugePedia]  PKLR [HugeCancerGEM]
snp3D : Map Gene to Disease5313
DGIdb (Drug Gene Interaction db)PKLR
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
GoPubMedPKLR
iHOPPKLR
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 18:00:29 CET 2015

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