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PGAM1 phosphoglycerate mutase 1 [ Homo sapiens (human) ]

Gene ID: 5223, updated on 6-Sep-2021

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
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
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Genomic context

See PGAM1 in Genome Data Viewer
Location:
10q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (97426191..97433444)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99185948..99193201)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes 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 palmitoyltransferase 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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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_001317079.2NP_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_002629.4NP_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, ENST00000334828.6
    Conserved Domains (1) summary
    PRK14115
    Location:4253
    gpmA; 2,3-diphosphoglycerate-dependent phosphoglycerate mutase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    97426191..97433444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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