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PGAM1 (phosphoglycerate mutase 1)

Identity

Alias_namesPGAMA
phosphoglycerate mutase 1 (brain)
Alias_symbol (synonym)PGAM-B
Other aliasHEL-S-35
HGNC (Hugo) PGAM1
LocusID (NCBI) 5223
Atlas_Id 46705
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 97426125 and ends at 97433444 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP7A (Xq21.1) / PGAM1 (10q24.1)SMAD2 (18q21.1) / PGAM1 (10q24.1)

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)PGAM1   8888
Cards
Entrez_Gene (NCBI)PGAM1  5223  phosphoglycerate mutase 1
AliasesHEL-S-35; PGAM-B; PGAMA
GeneCards (Weizmann)PGAM1
Ensembl hg19 (Hinxton)ENSG00000171314 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171314 [Gene_View]  ENSG00000171314 [Sequence]  chr10:97426125-97433444 [Contig_View]  PGAM1 [Vega]
ICGC DataPortalENSG00000171314
TCGA cBioPortalPGAM1
AceView (NCBI)PGAM1
Genatlas (Paris)PGAM1
WikiGenes5223
SOURCE (Princeton)PGAM1
Genetics Home Reference (NIH)PGAM1
Genomic and cartography
GoldenPath hg38 (UCSC)PGAM1  -     chr10:97426125-97433444 +  10q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGAM1  -     10q24.1   [Description]    (hg19-Feb_2009)
GoldenPathPGAM1 - 10q24.1 [CytoView hg19]  PGAM1 - 10q24.1 [CytoView hg38]
ImmunoBaseENSG00000171314
Mapping of homologs : NCBIPGAM1 [Mapview hg19]  PGAM1 [Mapview hg38]
OMIM172250   
Gene and transcription
Genbank (Entrez)AK223096 AK292216 AK293023 AK295991 AK296619
RefSeq transcript (Entrez)NM_001317079 NM_002629
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGAM1
Cluster EST : UnigeneHs.632918 [ NCBI ]
CGAP (NCI)Hs.632918
Alternative Splicing GalleryENSG00000171314
Gene ExpressionPGAM1 [ NCBI-GEO ]   PGAM1 [ EBI - ARRAY_EXPRESS ]   PGAM1 [ SEEK ]   PGAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5223
GTEX Portal (Tissue expression)PGAM1
Human Protein AtlasENSG00000171314-PGAM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18669   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18669  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18669
Splice isoforms : SwissVarP18669
Catalytic activity : Enzyme5.4.2.1|3.1.3.13 [ Enzyme-Expasy ]   5.4.2.1|3.1.3.135.4.2.1|3.1.3.13 [ IntEnz-EBI ]   5.4.2.1|3.1.3.13 [ BRENDA ]   5.4.2.1|3.1.3.13 [ KEGG ]   
PhosPhoSitePlusP18669
Domaine pattern : Prosite (Expaxy)PG_MUTASE (PS00175)   
Domains : Interpro (EBI)His_Pase_superF_clade-1    His_PPase_superfam    PG/BPGM_mutase_AS    Phosphogly_mut1   
Domain families : Pfam (Sanger)His_Phos_1 (PF00300)   
Domain families : Pfam (NCBI)pfam00300   
Domain families : Smart (EMBL)PGAM (SM00855)  
Conserved Domain (NCBI)PGAM1
DMDM Disease mutations5223
Blocks (Seattle)PGAM1
PDB (RSDB)1LJD    1YFK    1YJX    4GPI    4GPZ   
PDB Europe1LJD    1YFK    1YJX    4GPI    4GPZ   
PDB (PDBSum)1LJD    1YFK    1YJX    4GPI    4GPZ   
PDB (IMB)1LJD    1YFK    1YJX    4GPI    4GPZ   
Structural Biology KnowledgeBase1LJD    1YFK    1YJX    4GPI    4GPZ   
SCOP (Structural Classification of Proteins)1LJD    1YFK    1YJX    4GPI    4GPZ   
CATH (Classification of proteins structures)1LJD    1YFK    1YJX    4GPI    4GPZ   
SuperfamilyP18669
Human Protein Atlas [tissue]ENSG00000171314-PGAM1 [tissue]
Peptide AtlasP18669
HPRD01392
IPIIPI00549725   IPI01018095   IPI00930416   
Protein Interaction databases
DIP (DOE-UCLA)P18669
IntAct (EBI)P18669
FunCoupENSG00000171314
BioGRIDPGAM1
STRING (EMBL)PGAM1
ZODIACPGAM1
Ontologies - Pathways
QuickGOP18669
Ontology : AmiGObisphosphoglycerate mutase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  protein binding  extracellular region  cytoplasm  cytosol  cytosol  gluconeogenesis  glycolytic process  regulation of glycolytic process  membrane  hydrolase activity  protein kinase binding  secretory granule lumen  neutrophil degranulation  regulation of pentose-phosphate shunt  respiratory burst  canonical glycolysis  extracellular exosome  ficolin-1-rich granule lumen  
Ontology : EGO-EBIbisphosphoglycerate mutase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  phosphoglycerate mutase activity  protein binding  extracellular region  cytoplasm  cytosol  cytosol  gluconeogenesis  glycolytic process  regulation of glycolytic process  membrane  hydrolase activity  protein kinase binding  secretory granule lumen  neutrophil degranulation  regulation of pentose-phosphate shunt  respiratory burst  canonical glycolysis  extracellular exosome  ficolin-1-rich granule lumen  
Pathways : KEGGGlycolysis / Gluconeogenesis    Glycine, serine and threonine metabolism   
NDEx NetworkPGAM1
Atlas of Cancer Signalling NetworkPGAM1
Wikipedia pathwaysPGAM1
Orthology - Evolution
OrthoDB5223
GeneTree (enSembl)ENSG00000171314
Phylogenetic Trees/Animal Genes : TreeFamPGAM1
HOGENOMP18669
Homologs : HomoloGenePGAM1
Homology/Alignments : Family Browser (UCSC)PGAM1
Gene fusions - Rearrangements
Fusion : QuiverPGAM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAM1
dbVarPGAM1
ClinVarPGAM1
1000_GenomesPGAM1 
Exome Variant ServerPGAM1
ExAC (Exome Aggregation Consortium)ENSG00000171314
GNOMAD BrowserENSG00000171314
Varsome BrowserPGAM1
Genetic variants : HAPMAP5223
Genomic Variants (DGV)PGAM1 [DGVbeta]
DECIPHERPGAM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGAM1 
Mutations
ICGC Data PortalPGAM1 
TCGA Data PortalPGAM1 
Broad Tumor PortalPGAM1
OASIS PortalPGAM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGAM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPGAM1
Mutations and Diseases : HGMDPGAM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PGAM1
DgiDB (Drug Gene Interaction Database)PGAM1
DoCM (Curated mutations)PGAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGAM1 (select a term)
intoGenPGAM1
Cancer3DPGAM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172250   
Orphanet
DisGeNETPGAM1
MedgenPGAM1
Genetic Testing Registry PGAM1
NextProtP18669 [Medical]
TSGene5223
GENETestsPGAM1
Target ValidationPGAM1
Huge Navigator PGAM1 [HugePedia]
snp3D : Map Gene to Disease5223
BioCentury BCIQPGAM1
ClinGenPGAM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5223
Chemical/Pharm GKB GenePA33225
Clinical trialPGAM1
Miscellaneous
canSAR (ICR)PGAM1 (select the gene name)
DataMed IndexPGAM1
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGAM1
EVEXPGAM1
GoPubMedPGAM1
iHOPPGAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:00:31 CET 2019
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