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PGK1 (phosphoglycerate kinase 1)

Identity

Other namesHEL-S-68p
MIG10
PGKA
HGNC (Hugo) PGK1
LocusID (NCBI) 5230
Location Xq21.1
Location_base_pair Starts at 77359666 and ends at 77382324 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)PGK1   8896
Cards
Entrez_Gene (NCBI)PGK1  5230  phosphoglycerate kinase 1
GeneCards (Weizmann)PGK1
Ensembl hg19 (Hinxton)ENSG00000102144 [Gene_View]  chrX:77359666-77382324 [Contig_View]  PGK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102144 [Gene_View]  chrX:77359666-77382324 [Contig_View]  PGK1 [Vega]
ICGC DataPortalENSG00000102144
cBioPortalPGK1
AceView (NCBI)PGK1
Genatlas (Paris)PGK1
WikiGenes5230
SOURCE (Princeton)PGK1
Genomic and cartography
GoldenPath hg19 (UCSC)PGK1  -     chrX:77359666-77382324 +  Xq21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PGK1  -     Xq21.1   [Description]    (hg38-Dec_2013)
EnsemblPGK1 - Xq21.1 [CytoView hg19]  PGK1 - Xq21.1 [CytoView hg38]
Mapping of homologs : NCBIPGK1 [Mapview hg19]  PGK1 [Mapview hg38]
OMIM300653   311800   
Gene and transcription
Genbank (Entrez)AB062432 AK291081 AK295014 AK295182 AK298855
RefSeq transcript (Entrez)NM_000291
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008862 NT_011651 NW_001842376 NW_004929444
Consensus coding sequences : CCDS (NCBI)PGK1
Cluster EST : UnigeneHs.78771 [ NCBI ]
CGAP (NCI)Hs.78771
Alternative Splicing : Fast-db (Paris)GSHG0031637
Alternative Splicing GalleryENSG00000102144
Gene ExpressionPGK1 [ NCBI-GEO ]     PGK1 [ SEEK ]   PGK1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00558 (Uniprot)
NextProtP00558  [Medical]
With graphics : InterProP00558
Splice isoforms : SwissVarP00558 (Swissvar)
Catalytic activity : Enzyme2.7.2.3 [ Enzyme-Expasy ]   2.7.2.32.7.2.3 [ IntEnz-EBI ]   2.7.2.3 [ BRENDA ]   2.7.2.3 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PGLYCERATE_KINASE (PS00111)   
Domains : Interpro (EBI)Phosphoglycerate_kinase    Phosphoglycerate_kinase_C    Phosphoglycerate_kinase_CS    Phosphoglycerate_kinase_N   
Related proteins : CluSTrP00558
Domain families : Pfam (Sanger)PGK (PF00162)   
Domain families : Pfam (NCBI)pfam00162   
DMDM Disease mutations5230
Blocks (Seattle)P00558
PDB (SRS)2WZB    2WZC    2WZD    2X13    2X14    2X15    2XE6    2XE7    2XE8    2Y3I    2YBE    2ZGV    3C39    3C3A    3C3B    3C3C    3ZOZ    4AXX   
PDB (PDBSum)2WZB    2WZC    2WZD    2X13    2X14    2X15    2XE6    2XE7    2XE8    2Y3I    2YBE    2ZGV    3C39    3C3A    3C3B    3C3C    3ZOZ    4AXX   
PDB (IMB)2WZB    2WZC    2WZD    2X13    2X14    2X15    2XE6    2XE7    2XE8    2Y3I    2YBE    2ZGV    3C39    3C3A    3C3B    3C3C    3ZOZ    4AXX   
PDB (RSDB)2WZB    2WZC    2WZD    2X13    2X14    2X15    2XE6    2XE7    2XE8    2Y3I    2YBE    2ZGV    3C39    3C3A    3C3B    3C3C    3ZOZ    4AXX   
Human Protein AtlasENSG00000102144
Peptide AtlasP00558
HPRD02412
IPIIPI00169383   IPI00909158   IPI00910974   IPI00916818   IPI01011912   
Protein Interaction databases
DIP (DOE-UCLA)P00558
IntAct (EBI)P00558
FunCoupENSG00000102144
BioGRIDPGK1
IntegromeDBPGK1
STRING (EMBL)PGK1
Ontologies - Pathways
QuickGOP00558
Ontology : AmiGOphosphoglycerate kinase activity  phosphoglycerate kinase activity  protein binding  ATP binding  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  glycolytic process  membrane  phosphorylation  epithelial cell differentiation  small molecule metabolic process  extracellular vesicular exosome  
Ontology : EGO-EBIphosphoglycerate kinase activity  phosphoglycerate kinase activity  protein binding  ATP binding  cytosol  carbohydrate metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  glycolytic process  membrane  phosphorylation  epithelial cell differentiation  small molecule metabolic process  extracellular vesicular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    HIF-1 signaling pathway   
Protein Interaction DatabasePGK1
DoCM (Curated mutations)PGK1
Wikipedia pathwaysPGK1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPGK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGK1
dbVarPGK1
ClinVarPGK1
1000_GenomesPGK1 
Exome Variant ServerPGK1
SNP (GeneSNP Utah)PGK1
SNP : HGBasePGK1
Genetic variants : HAPMAPPGK1
Genomic VariantsPGK1  PGK1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000102144 
Somatic Mutations in Cancer : COSMICPGK1 
CONAN: Copy Number AnalysisPGK1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:77359666-77382324
Mutations and Diseases : HGMDPGK1
OMIM300653    311800   
MedgenPGK1
NextProtP00558 [Medical]
GENETestsPGK1
Disease Genetic AssociationPGK1
Huge Navigator PGK1 [HugePedia]  PGK1 [HugeCancerGEM]
snp3D : Map Gene to Disease5230
DGIdb (Drug Gene Interaction db)PGK1
General knowledge
Homologs : HomoloGenePGK1
Homology/Alignments : Family Browser (UCSC)PGK1
Phylogenetic Trees/Animal Genes : TreeFamPGK1
Chemical/Protein Interactions : CTD5230
Chemical/Pharm GKB GenePA33234
Clinical trialPGK1
Cancer Resource (Charite)ENSG00000102144
Other databases
Probes
Litterature
PubMed116 Pubmed reference(s) in Entrez
CoreMinePGK1
GoPubMedPGK1
iHOPPGK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:47:59 CET 2014

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