Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5223
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoglycerate mutase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGAM1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-35, PGAM-B, PGAMA
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050950 hsa-miR-17-5p CLASH 23622248
MIRT048748 hsa-miR-93-5p CLASH 23622248
MIRT048748 hsa-miR-93-5p CLASH 23622248
MIRT048725 hsa-miR-96-5p CLASH 23622248
MIRT048150 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004082 Function Bisphosphoglycerate mutase activity IEA
GO:0004619 Function Phosphoglycerate mutase activity IDA 22590500
GO:0004619 Function Phosphoglycerate mutase activity IMP 12189148
GO:0004619 Function Phosphoglycerate mutase activity NAS 2846554
GO:0005515 Function Protein binding IPI 16049941, 20849852, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172250 8888 ENSG00000171314
Protein
UniProt ID P18669
Protein name Phosphoglycerate mutase 1 (EC 5.4.2.11) (EC 5.4.2.4) (BPG-dependent PGAM 1) (Phosphoglycerate mutase isozyme B) (PGAM-B)
Protein function Catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglyceratea crucial step in glycolysis, by using 2,3-bisphosphoglycerate (PubMed:23653202). Also catalyzes the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-gly
PDB 1YFK , 1YJX , 4GPI , 4GPZ , 5Y2I , 5Y2U , 5Y35 , 5Y64 , 5Y65 , 5ZRM , 5ZS8 , 6ISN , 7XB7 , 7XB8 , 7XB9 , 8IT4 , 8IT5 , 8IT6 , 8IT7 , 8IT8 , 8ITB , 8ITC , 8ITD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00300 His_Phos_1 6 138 Histidine phosphatase superfamily (branch 1) Domain
PF00300 His_Phos_1 135 227 Histidine phosphatase superfamily (branch 1) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the liver and brain. Not found in the muscle. {ECO:0000269|PubMed:2846553}.
Sequence
MAAYKLVLIRHGESAWNLENRFSGWYDADLSPAGHEEAKRGGQALRDAGYEFDICFTSVQ
KRAIRTLWTVLDAIDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEAQVKIWRRSYD
VPPPPMEPDHPFYS
NISKDRRYADLTEDQLPSCESLKDTIARALPFWNEEIVPQIKEGKR
VLIAAHGNSLRGIVKHLEGLSEEAIMELNLPTGIPIVYELDKNLKPI
KPMQFLGDEETVR
KAMEAVAAQGKAKK
Sequence length 254
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Glucagon signaling pathway
Central carbon metabolism in cancer
  Neutrophil degranulation
Glycolysis
Gluconeogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 15378696
Carcinoma Carcinoma, Squamous cell carcinoma, Carcinoma, Cribriform, Carcinoma, Granular Cell, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942, 15274141, 15378696
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
15378696
Lung carcinoma Non-Small Cell Lung Carcinoma rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
17094902
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36990047, 37626419
Alzheimer Disease Associate 18752637, 19686046, 40183343
Bipolar Disorder Stimulate 23408933
Breast Neoplasms Associate 35674458, 37338518
Carcinoma Hepatocellular Associate 38093528
Carcinoma Non Small Cell Lung Associate 32404981, 36551208, 37667226
Carcinoma Non Small Cell Lung Stimulate 32855383
Carcinoma Pancreatic Ductal Associate 29386088
Carcinoma Renal Cell Associate 26464696
Cholangiocarcinoma Stimulate 23118872