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    PGM3 phosphoglucomutase 3 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_034146.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001199917.2NP_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:50555
      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_001199918.2NP_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:1432
      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_001199919.2NP_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:22527
      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:1538
      PLN02895; phosphoacetylglucosamine mutase
    4. NM_001367286.1NP_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:22486
      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_001367287.1NP_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:50555
      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_015599.3NP_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:22527
      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:1538
      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_047418877.1XP_047274833.1  phosphoacetylglucosamine mutase isoform X2

      UniProtKB/TrEMBL
      A0A494C0G1
    2. XM_047418876.1XP_047274832.1  phosphoacetylglucosamine mutase isoform X3

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

      UniProtKB/TrEMBL
      A0A087WT27
      Related
      ENSP00000477539.2, ENST00000616566.5
    4. XM_017010935.2XP_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_054355610.1XP_054211585.1  phosphoacetylglucosamine mutase isoform X2

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

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

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

    5. XM_054355608.1XP_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