Format

Send to:

Choose Destination

PGM1 phosphoglucomutase 1 [ Homo sapiens (human) ]

Gene ID: 5236, updated on 5-Aug-2018

Summary

Official Symbol
PGM1provided by HGNC
Official Full Name
phosphoglucomutase 1provided by HGNC
Primary source
HGNC:HGNC:8905
See related
Ensembl:ENSG00000079739 MIM:171900; Vega:OTTHUMG00000008968
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

Genomic context

See PGM1 in Genome Data Viewer
Location:
1p31.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (63593276..63660245)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64058947..64125916)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 123 pseudogene Neighboring gene EF-hand calcium binding domain 7 Neighboring gene deleted in lymphocytic leukemia 2-like Neighboring gene uncharacterized LOC105378771 Neighboring gene RNA, 7SL, cytoplasmic 130, pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphoglucomutase activity EXP
Inferred from Experiment
more info
PubMed 
phosphoglucomutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoglucomutase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoglucomutase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
galactose catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactose catabolic process TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
PubMed 
glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glucose metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen biosynthetic process TAS
Traceable Author Statement
more info
 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
glycolytic process TAS
Traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
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
 
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)

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
    5001..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/Swiss-Prot
    P36871
    UniProtKB/TrEMBL
    B7Z6C2
    Related
    ENSP00000360124.4, OTTHUMP00000010520, ENST00000371083.4, OTTHUMT00000024869
    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_001172819.1NP_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/Swiss-Prot
    P36871
    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_002633.2NP_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
    P36871
    Related
    ENSP00000360125.3, OTTHUMP00000010519, ENST00000371084.7, OTTHUMT00000024868
    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: 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_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    63593276..63660245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center