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PGAM1 (phosphoglycerate mutase 1)

Identity

Alias (NCBI)HEL-S-35
PGAM-B
PGAMA
HGNC (Hugo) PGAM1
HGNC Alias symbPGAM-B
HGNC Alias namePhosphoglycerate mutase A, nonmuscle form
HGNC Previous namePGAMA
HGNC Previous namephosphoglycerate mutase 1 (brain)
LocusID (NCBI) 5223
Atlas_Id 46705
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 97426191 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    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]  chr10:97426191-97433444 [Contig_View]  PGAM1 [Vega]
ICGC DataPortalENSG00000171314
TCGA cBioPortalPGAM1
AceView (NCBI)PGAM1
Genatlas (Paris)PGAM1
SOURCE (Princeton)PGAM1
Genetics Home Reference (NIH)PGAM1
Genomic and cartography
GoldenPath hg38 (UCSC)PGAM1  -     chr10:97426191-97433444 +  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
Genome Data Viewer NCBIPGAM1 [Mapview hg19]  
OMIM172250   
Gene and transcription
Genbank (Entrez)AK223096 AK292216 AK293023 AK295991 AK296619
RefSeq transcript (Entrez)NM_001317079 NM_002629
Consensus coding sequences : CCDS (NCBI)PGAM1
Gene ExpressionPGAM1 [ NCBI-GEO ]   PGAM1 [ EBI - ARRAY_EXPRESS ]   PGAM1 [ SEEK ]   PGAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAM1 [ Firebrowse - Broad ]
GenevisibleExpression of PGAM1 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
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
PDB (RSDB)1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
PDB Europe1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
PDB (PDBSum)1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
PDB (IMB)1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
Structural Biology KnowledgeBase1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
SCOP (Structural Classification of Proteins)1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
CATH (Classification of proteins structures)1LJD    1YFK    1YJX    4GPI    4GPZ    5Y2I    5Y2U    5Y35    5Y64    5Y65    5ZRM    5ZS8    6ISN   
SuperfamilyP18669
AlphaFold pdb e-kbP18669   
Human Protein Atlas [tissue]ENSG00000171314-PGAM1 [tissue]
HPRD01392
Protein Interaction databases
DIP (DOE-UCLA)P18669
IntAct (EBI)P18669
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
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
MonarchPGAM1
1000_GenomesPGAM1 
Exome Variant ServerPGAM1
GNOMAD BrowserENSG00000171314
Varsome BrowserPGAM1
ACMGPGAM1 variants
VarityP18669
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)[gene] [transcripts] [variants]
BioMutaPGAM1
DgiDB (Drug Gene Interaction Database)PGAM1
DoCM (Curated mutations)PGAM1
CIViC (Clinical Interpretations of Variants in Cancer)PGAM1
Cancer3DPGAM1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172250   
Orphanet
DisGeNETPGAM1
MedgenPGAM1
Genetic Testing Registry PGAM1
NextProtP18669 [Medical]
GENETestsPGAM1
Target ValidationPGAM1
Huge Navigator PGAM1 [HugePedia]
ClinGenPGAM1
Clinical trials, drugs, therapy
MyCancerGenomePGAM1
Protein Interactions : CTDPGAM1
Pharm GKB GenePA33225
PharosP18669
Clinical trialPGAM1
Miscellaneous
canSAR (ICR)PGAM1
HarmonizomePGAM1
DataMed IndexPGAM1
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPGAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:01 CEST 2021

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