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    PGM3 phosphoglucomutase 3 [ Homo sapiens (human) ]

    Gene ID: 5238, updated on 12-Oct-2019

    Summary

    Official Symbol
    PGM3provided by HGNC
    Official Full Name
    phosphoglucomutase 3provided by HGNC
    Primary source
    HGNC:HGNC:8907
    See related
    Ensembl:ENSG00000013375 MIM:172100
    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

    Genomic context

    See PGM3 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (83150728..83193900, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (83874592..83903655, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377877 Neighboring gene ubiquitin protein ligase E3D Neighboring gene leucine aminopeptidase 3 pseudogene 1 Neighboring gene DOP1 leucine zipper like protein A Neighboring gene RWD domain containing 2A Neighboring gene malic enzyme 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 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 BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11614, FLJ13623, DKFZp434B187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoacetylglucosamine mutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphoacetylglucosamine mutase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoacetylglucosamine mutase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphoacetylglucosamine mutase activity TAS
    Traceable Author Statement
    more info
     
    phosphoglucomutase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    UDP-N-acetylglucosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    UDP-N-acetylglucosamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    UDP-N-acetylglucosamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UDP-N-acetylglucosamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glucosamine metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    glucose 1-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    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

    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_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/Swiss-Prot
      O95394
      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
      A0A087WT27
      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/Swiss-Prot
      O95394
      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
      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
      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
      O95394
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      83150728..83193900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010937.1XP_016866426.1  phosphoacetylglucosamine mutase isoform X2

      Related
      ENSP00000477539.2, ENST00000616566.5
    2. XM_017010935.1XP_016866424.1  phosphoacetylglucosamine mutase isoform X1

      Related
      ENSP00000498986.1, ENST00000651425.1

    RNA

    1. XR_942480.2 RNA Sequence

    2. XR_001743468.2 RNA Sequence

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