PGM1 phosphoglucomutase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (63593411..63660245)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (63469205..63536042)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (64059082..64125916)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway.
Title: Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway.
Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.
Title: Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Title: A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Title: Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1.
Title: Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1.
AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation.
Title: AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation.
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the alpha-D-phosphohexomutase superfamily.
Title: Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily.
Variation in PGM-1 was associated with lower blood alcohol content in Korean subjects, suggesting likely involvement in alcohol metabolism and possible association with the development of alcohol-related diseases in Korea.
Title: The association between alcohol metabolism and genetic variants of ADH1A, SRPRB, and PGM1 in Korea.
c.405delT encodes a truncated protein with abnormal distribution and expression in skeletal muscle.
Title: Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
A genetic variant in the gene for phosphoglucomutase 1 (PGM1) was identified in the index patient and her two brothers, all were found to be homozygous for the genetic variant (G230E) NM_002633.2:c.689G>A in PGM1. This variant has been linked to a congenital disorder of glycosylation. Both parents and three other siblings were found to be heterozygous gene carriers without risk for the disease.
Title: The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs
PGM1-congenital disorder of glycosylation MedGen: C2752015 OMIM: 614921 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

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 EBI GWAS CatalogPubMed
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54079 (e-PCR)
- UniSTS:109316

AL033854 (e-PCR)
- UniSTS:93730

PGM1-2 (e-PCR)
- UniSTS:254021

GDB:636868 (e-PCR)
- UniSTS:158552

WI-9183 (e-PCR)
- UniSTS:62583

GDB:277194 (e-PCR)
- UniSTS:156368

SHGC-74929 (e-PCR)
- UniSTS:14577

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 galactose catabolic process via UDP-galactose	IMP Inferred from Mutant Phenotype more info	PubMed
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 more info	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

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Preferred Names: phosphoglucomutase-1

Names: PGM 1; glucose phosphomutase 1

NP_001166289.1

EC 5.4.2.2

NP_001166290.1

EC 5.4.2.2

NP_002624.2

EC 5.4.2.2

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.

Genomic

NG_016966.1 RefSeqGene

Range

5136..71970

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172818.1 → NP_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:24 → 580

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:27 → 580

PLN02307; phosphoglucomutase
NM_001172819.2 → NP_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:1 → 365

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 ...
NM_002633.3 → NP_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:5 → 562

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:1 → 562

PLN02307; phosphoglucomutase