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    PGM3 phosphoglucomutase 3 [ Homo sapiens (human) ]

    Gene ID: 5238, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83148705..83193900, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (84373968..84417223, complement)
    RS_2024_09 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. Isozyme patterns in erythrocytes from human fetuses. Chen SH, et al. Am J Hematol, 1977. PMID 203189
    2. Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. Wu G, et al. Glycoconj J, 2016 Jun. PMID 26687240, Free PMC Article
    3. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Lundin KE, et al. Clin Immunol, 2015 Dec. PMID 26482871, Free PMC Article
    4. 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
    5. 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

    See all (81) 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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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 23
    MedGen: C4014371 OMIM: 615816 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    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_2024_08

    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, B3KN28

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

      UniProtKB/TrEMBL
      B3KN28

    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

      UniProtKB/TrEMBL
      B3KN28

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

      UniProtKB/TrEMBL
      A0A087WT27

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

      UniProtKB/TrEMBL
      B3KN28

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

      UniProtKB/TrEMBL
      B3KN28

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

      UniProtKB/TrEMBL
      A0A494C1E2

    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

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