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PGM3 phosphoglucomutase 3 [ Homo sapiens (human) ]

Gene ID: 5238, updated on 8-Jul-2021

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
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Genomic context

See PGM3 in Genome Data Viewer
Location:
6q14.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (83150728..83193900, complement)
105.20201022 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 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 PubChem

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
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphoacetylglucosamine mutase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
enables phosphoglucomutase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 glucose 1-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001199917.2NP_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 Updated Annotation Release 109.20210514

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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