U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PGM1 phosphoglucomutase 1 [ Homo sapiens (human) ]

Gene ID: 5236, updated on 23-Nov-2023

Summary

Official Symbol
PGM1provided by HGNC
Official Full Name
phosphoglucomutase 1provided by HGNC
Primary source
HGNC:HGNC:8905
See related
Ensembl:ENSG00000079739 MIM:171900; AllianceGenome:HGNC:8905
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
CDG1T; GSD14
Summary
The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PGM1 in Genome Data Viewer
Location:
1p31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63593411..63660245)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63469205..63536042)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64059082..64125916)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 123 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:64038344-64038938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64039532-64040125 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64040126-64040718 Neighboring gene EF-hand calcium binding domain 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1128 Neighboring gene deleted in lymphocytic leukemia 2 like Neighboring gene uncharacterized LOC105378771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:64140637-64141138 Neighboring gene RNA, 7SL, cytoplasmic 130, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:64179745-64180246 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:64187597-64188096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:64197420-64197975 Neighboring gene Sharpr-MPRA regulatory region 14006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 952 Neighboring gene Sharpr-MPRA regulatory region 13784 Neighboring gene Sharpr-MPRA regulatory region 321 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:64246221-64246776 Neighboring gene ribosomal protein L19 pseudogene 3 Neighboring gene receptor tyrosine kinase like orphan receptor 1

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?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
EBI GWAS Catalog
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphoglucomutase 1 (PGM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoglucomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphoglucomutase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoglucomutase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gluconeogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in glucose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in glycolytic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
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 tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphoglucomutase-1
Names
PGM 1
glucose phosphomutase 1
NP_001166289.1
NP_001166290.1
NP_002624.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_016966.1 RefSeqGene

    Range
    5136..71970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172818.1NP_001166289.1  phosphoglucomutase-1 isoform 2

    See identical proteins and their annotated locations for NP_001166289.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a longer and different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK300100, BC019920, DC373587
    Consensus CDS
    CCDS53323.1
    UniProtKB/TrEMBL
    B7Z6C2
    Related
    ENSP00000360124.4, ENST00000371083.4
    Conserved Domains (2) summary
    cd03085
    Location:24580
    PGM1; Phosphoglucomutase 1 (PGM1) catalyzes the bidirectional interconversion of glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P) via a glucose 1,6-diphosphate intermediate, an important metabolic step in prokaryotes and eukaryotes. In one direction, ...
    PLN02307
    Location:27580
    PLN02307; phosphoglucomutase
  2. NM_001172819.2NP_001166290.1  phosphoglucomutase-1 isoform 3

    See identical proteins and their annotated locations for NP_001166290.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK293298, BC019920
    Consensus CDS
    CCDS53324.1
    UniProtKB/TrEMBL
    B4DDQ8
    Related
    ENSP00000443449.1, ENST00000540265.5
    Conserved Domains (1) summary
    cl03757
    Location:1365
    phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...
  3. NM_002633.3NP_002624.2  phosphoglucomutase-1 isoform 1

    See identical proteins and their annotated locations for NP_002624.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is dominant and encodes a protein of 562aa.
    Source sequence(s)
    BC019920
    Consensus CDS
    CCDS625.1
    UniProtKB/Swiss-Prot
    B2R5N9, B4DPV0, P36871, Q16105, Q16106, Q5BKZ9, Q6NW22, Q86U74, Q96J40, Q9NTY4
    UniProtKB/TrEMBL
    B4DFP1
    Related
    ENSP00000360125.3, ENST00000371084.8
    Conserved Domains (2) summary
    cd03085
    Location:5562
    PGM1; Phosphoglucomutase 1 (PGM1) catalyzes the bidirectional interconversion of glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P) via a glucose 1,6-diphosphate intermediate, an important metabolic step in prokaryotes and eukaryotes. In one direction, ...
    PLN02307
    Location:1562
    PLN02307; phosphoglucomutase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    63593411..63660245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    63469205..63536042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)