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PGM3 phosphoglucomutase 3 [ Homo sapiens (human) ]

Gene ID: 5238, updated on 3-Apr-2024

Summary

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Official Symbol
PGM3provided by HGNC
Official Full Name
phosphoglucomutase 3provided by HGNC
Primary source
HGNC:HGNC:8907
See related
Ensembl:ENSG00000013375 MIM:172100; AllianceGenome:HGNC:8907
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
AGM1; PAGM; IMD23; PGM 3
Summary
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in prostate (RPKM 14.7), thyroid (RPKM 8.9) and 25 other tissues See more
Orthologs
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Genomic context

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See PGM3 in Genome Data Viewer
Location:
6q14.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83148705..83193900, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (84373968..84417223, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (83860447..83903619, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377877 Neighboring gene MPRA-validated peak5926 silencer Neighboring gene ubiquitin protein ligase E3D Neighboring gene leucine aminopeptidase 3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:83710771-83710962 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:83747652-83748851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24783 Neighboring gene NANOG hESC enhancer GRCh37_chr6:83821047-83821571 Neighboring gene DOP1 leucine zipper like protein A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:83902947-83903446 Neighboring gene MPRA-validated peak5928 silencer Neighboring gene RWD domain containing 2A Neighboring gene ReSE screen-validated silencer GRCh37_chr6:84004031-84004257 Neighboring gene malic enzyme 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17358 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:84140986-84142185 Neighboring gene serine protease 35

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression. Zhang N, et al. Exp Biol Med (Maywood), 2022 Sep. PMID 35723049, Free PMC Article
  2. Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. Ittiwut C, et al. J Clin Immunol, 2020 Jan. PMID 31707513
  3. Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation. Jaeken J, et al. Eur J Hum Genet, 2019 Nov. PMID 31231132, Free PMC Article
  4. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Ben-Khemis L, et al. Mol Immunol, 2017 Oct. PMID 28704707
  5. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. Pacheco-Cuéllar G, et al. J Bone Miner Res, 2017 Sep. PMID 28543917

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
    Title: Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
  2. PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.
    Title: PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.
  3. Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.
    Title: Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.
  4. Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
    Title: Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
  5. Deficiency of phosphoglucomutase 3 (PGM3) is an autosomal recessive disorder of N- and O-glycosylation.
    Title: Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
  6. our findings demonstrate that defective glycosylation in PGM3-deficient patients results in reduced expression of unglycosylated gp130 protein and consequently, impaired gp130-dependent STAT3 phosphorylation.
    Title: Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.
  7. Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
    Title: A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
  8. study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia
    Title: A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
  9. PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile.
    Title: Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation.
  10. Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
    Title: Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Immunodeficiency 23
MedGen: C4014371 OMIM: 615816 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11614, FLJ13623, DKFZp434B187

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoacetylglucosamine mutase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphoacetylglucosamine mutase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphoacetylglucosamine mutase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phosphoacetylglucosamine mutase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in UDP-N-acetylglucosamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in UDP-N-acetylglucosamine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in UDP-N-acetylglucosamine biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glucosamine metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
phosphoacetylglucosamine mutase
Names
N-acetylglucosamine-phosphate mutase 1
acetylglucosamine phosphomutase
NP_001186846.1
NP_001186847.1
NP_001186848.1
NP_001354215.1
NP_001354216.1
NP_056414.1
XP_016866424.1
XP_016866426.1
XP_047274832.1
XP_047274833.1
XP_054211583.1
XP_054211584.1
XP_054211585.1
XP_054211586.1
XP_054211587.1

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.

Genomic

  1. NG_034146.2 RefSeqGene

    Range
    5636..34028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1312

mRNA and Protein(s)

  1. NM_001199917.2 → NP_001186846.1  phosphoacetylglucosamine mutase isoform 1

    See identical proteins and their annotated locations for NP_001186846.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 encode the same isoform.
    Source sequence(s)
    AF180371, AK301867, AL121716
    Consensus CDS
    CCDS56436.1
    UniProtKB/TrEMBL
    B3KN28
    Related
    ENSP00000425809.1, ENST00000506587.5
    Conserved Domains (1) summary
    cd03086
    Location:50 → 555
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

  2. NM_001199918.2 → NP_001186847.1  phosphoacetylglucosamine mutase isoform 3

    See identical proteins and their annotated locations for NP_001186847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (3) with distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK001365, AL121716, DB004046
    Consensus CDS
    CCDS75487.1
    UniProtKB/TrEMBL
    A0A494C1E2, J3KN95
    Related
    ENSP00000283977.5, ENST00000283977.9
    Conserved Domains (1) summary
    cd03086
    Location:1 → 432
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

  3. NM_001199919.2 → NP_001186848.1  phosphoacetylglucosamine mutase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (4) with distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AK225363, AL121716, DB004046
    Consensus CDS
    CCDS56435.1
    UniProtKB/TrEMBL
    B3KN28
    Related
    ENSP00000421565.1, ENST00000512866.5
    Conserved Domains (2) summary
    cd03086
    Location:22 → 527
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
    PLN02895
    Location:1 → 538
    PLN02895; phosphoacetylglucosamine mutase

  4. NM_001367286.1 → NP_001354215.1  phosphoacetylglucosamine mutase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049699, AL121716
    Consensus CDS
    CCDS93954.1
    UniProtKB/TrEMBL
    A0A494C0G1, B3KN28
    Related
    ENSP00000498516.1, ENST00000650642.1
    Conserved Domains (1) summary
    cd03086
    Location:22 → 486
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

  5. NM_001367287.1 → NP_001354216.1  phosphoacetylglucosamine mutase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1).
    Source sequence(s)
    AL049699, AL121716
    Consensus CDS
    CCDS56436.1
    UniProtKB/TrEMBL
    B3KN28
    Related
    ENSP00000424865.2, ENST00000508748.6
    Conserved Domains (1) summary
    cd03086
    Location:50 → 555
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...

  6. NM_015599.3 → NP_056414.1  phosphoacetylglucosamine mutase isoform 2

    See identical proteins and their annotated locations for NP_056414.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF180371, AL121716, DB004046
    Consensus CDS
    CCDS4997.1
    UniProtKB/Swiss-Prot
    B2RB65, B4DX94, D6RF12, E1P547, E9PF86, O95394, Q5JWR4, Q96J46, Q9H8G5, Q9NS94, Q9NTT6, Q9UFV5, Q9UIY2
    UniProtKB/TrEMBL
    B3KN28
    Related
    ENSP00000424874.1, ENST00000513973.6
    Conserved Domains (2) summary
    cd03086
    Location:22 → 527
    PGM3; PGM3 (phosphoglucomutase 3), also known as PAGM (phosphoacetylglucosamine mutase) and AGM1 (N-acetylglucosamine-phosphate mutase), is an essential enzyme found in eukaryotes that reversibly catalyzes the conversion of GlcNAc-6-phosphate into ...
    PLN02895
    Location:1 → 538
    PLN02895; phosphoacetylglucosamine mutase

RNA

  1. NR_159812.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049699, AL121716
    Related
    ENST00000698602.1

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    83148705..83193900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418877.1 → XP_047274833.1  phosphoacetylglucosamine mutase isoform X2

    UniProtKB/TrEMBL
    A0A494C0G1

  2. XM_047418876.1 → XP_047274832.1  phosphoacetylglucosamine mutase isoform X3

  3. XM_017010937.2 → XP_016866426.1  phosphoacetylglucosamine mutase isoform X4

    UniProtKB/TrEMBL
    A0A087WT27
    Related
    ENSP00000477539.2, ENST00000616566.5

  4. XM_017010935.2 → XP_016866424.1  phosphoacetylglucosamine mutase isoform X1

    UniProtKB/TrEMBL
    A0A494C1E2
    Related
    ENSP00000498986.1, ENST00000651425.1

RNA

  1. XR_007059270.1 RNA Sequence

  2. XR_007059271.1 RNA Sequence

  3. XR_007059272.1 RNA Sequence

  4. XR_942480.3 RNA Sequence

  5. XR_001743468.3 RNA Sequence

  6. XR_007059273.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    84373968..84417223 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355610.1 → XP_054211585.1  phosphoacetylglucosamine mutase isoform X2

  2. XM_054355611.1 → XP_054211586.1  phosphoacetylglucosamine mutase isoform X6

  3. XM_054355612.1 → XP_054211587.1  phosphoacetylglucosamine mutase isoform X7

  4. XM_054355609.1 → XP_054211584.1  phosphoacetylglucosamine mutase isoform X5

  5. XM_054355608.1 → XP_054211583.1  phosphoacetylglucosamine mutase isoform X1

RNA

  1. XR_008487340.1 RNA Sequence

  2. XR_008487339.1 RNA Sequence

  3. XR_008487341.1 RNA Sequence

  4. XR_008487342.1 RNA Sequence

  5. XR_008487343.1 RNA Sequence

  6. XR_008487344.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95394.1 GenPept UniProtKB/Swiss-Prot:O95394

Gene LinkOut

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