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PGAM1 phosphoglycerate mutase 1 [ Homo sapiens (human) ]

Gene ID: 5223, updated on 11-Nov-2018

Summary

Official Symbol
PGAM1provided by HGNC
Official Full Name
phosphoglycerate mutase 1provided by HGNC
Primary source
HGNC:HGNC:8888
See related
Ensembl:ENSG00000171314 MIM:172250; Vega:OTTHUMG00000018846
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGAMA; PGAM-B; HEL-S-35
Summary
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. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in esophagus (RPKM 137.6), brain (RPKM 137.2) and 25 other tissues See more
Orthologs

Genomic context

See PGAM1 in Genome Data Viewer
Location:
10q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (97426125..97433444)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99186027..99193198)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378448 Neighboring gene ribosomal RNA processing 12 homolog Neighboring gene ribosomal protein L34 pseudogene 20 Neighboring gene uncharacterized LOC644215 Neighboring gene exosome component 1 Neighboring gene zinc finger DHHC-type containing 16

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Cori Cycle, organism-specific biosystem (from WikiPathways)
    Cori Cycle, organism-specific biosystem
    Cori Cycle
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystem (from KEGG)
    Gluconeogenesis, oxaloacetate => fructose-6P, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
    Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
    Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
  • Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
    Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
  • Glycolysis, core module involving three-carbon compounds, organism-specific biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Glycolysis, core module involving three-carbon compounds, conserved biosystem (from KEGG)
    Glycolysis, core module involving three-carbon compounds, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bisphosphoglycerate mutase activity IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
phosphoglycerate mutase activity EXP
Inferred from Experiment
more info
PubMed 
phosphoglycerate mutase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoglycerate mutase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphoglycerate mutase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
canonical glycolysis TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glycolytic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of glycolytic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of pentose-phosphate shunt IDA
Inferred from Direct Assay
more info
PubMed 
respiratory burst IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphoglycerate mutase 1
Names
BPG-dependent PGAM 1
epididymis secretory protein Li 35
phosphoglycerate mutase 1 (brain)
phosphoglycerate mutase A, nonmuscle form
phosphoglycerate mutase isozyme B
NP_001304008.1
NP_002620.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317079.1NP_001304008.1  phosphoglycerate mutase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon in place of the first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK292216, AK315910, CA307301
    UniProtKB/TrEMBL
    B7Z9E5, Q6FHU2
    Conserved Domains (1) summary
    cl11399
    Location:26238
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  2. NM_002629.3NP_002620.1  phosphoglycerate mutase 1 isoform 1

    See identical proteins and their annotated locations for NP_002620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK292216, CA307301, DA270129
    Consensus CDS
    CCDS7458.1
    UniProtKB/Swiss-Prot
    P18669
    UniProtKB/TrEMBL
    Q6FHU2
    Related
    ENSP00000359991.4, OTTHUMP00000020190, ENST00000334828.5, OTTHUMT00000049652
    Conserved Domains (1) summary
    PRK14115
    Location:4253
    gpmA; phosphoglyceromutase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    97426125..97433444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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