Human Gene PGM3 (ENST00000513973.6_9) from GENCODE V47lift37
  Description: phosphoglucomutase 3, transcript variant 2 (from RefSeq NM_015599.3)
Gencode Transcript: ENST00000513973.6_9
Gencode Gene: ENSG00000013375.17_20
Transcript (Including UTRs)
   Position: hg19 chr6:83,874,592-83,902,984 Size: 28,393 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr6:83,878,953-83,900,731 Size: 21,779 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:83,874,592-83,902,984)mRNA (may differ from genome)Protein (542 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AGM1_HUMAN
DESCRIPTION: RecName: Full=Phosphoacetylglucosamine mutase; Short=PAGM; EC=5.4.2.3; AltName: Full=Acetylglucosamine phosphomutase; AltName: Full=N-acetylglucosamine-phosphate mutase; AltName: Full=Phosphoglucomutase-3; Short=PGM 3;
FUNCTION: Interconverts GlcNAc-6-P and GlcNAc-1-P.
CATALYTIC ACTIVITY: N-acetyl-alpha-D-glucosamine 1-phosphate = N- acetyl-D-glucosamine 6-phosphate.
COFACTOR: Binds 1 magnesium ion per subunit (By similarity).
PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2.
TISSUE SPECIFICITY: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney.
SIMILARITY: Belongs to the phosphohexose mutase family.
SEQUENCE CAUTION: Sequence=BAB14652.1; Type=Erroneous initiation; Sequence=CAI22635.1; Type=Erroneous gene model prediction; Sequence=CAI42427.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PGM3
Diseases sorted by gene-association score: immunodeficiency 23* (1679), pgm3-cdg* (400), hyper ige syndrome* (283), desbuquois dysplasia (7), atopy (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.76 RPKM in Cells - Cultured fibroblasts
Total median expression: 305.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.8089-0.312 Picture PostScript Text
3' UTR -1063.204361-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005844 - A-D-PHexomutase_a/b/a-I
IPR016055 - A-D-PHexomutase_a/b/a-I/II/III
IPR005845 - A-D-PHexomutase_a/b/a-II
IPR005843 - A-D-PHexomutase_C
IPR016066 - A-D-PHexomutase_CS
IPR016657 - PAGM

Pfam Domains:
PF00408 - Phosphoglucomutase/phosphomannomutase, C-terminal domain
PF02878 - Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I

SCOP Domains:
53738 - Phosphoglucomutase, first 3 domains
55957 - Phosphoglucomutase, C-terminal domain

ModBase Predicted Comparative 3D Structure on O95394
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0004610 phosphoacetylglucosamine mutase activity
GO:0004614 phosphoglucomutase activity
GO:0016853 isomerase activity
GO:0016868 intramolecular transferase activity, phosphotransferases
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006041 glucosamine metabolic process
GO:0006048 UDP-N-acetylglucosamine biosynthetic process
GO:0006487 protein N-linked glycosylation
GO:0006493 protein O-linked glycosylation
GO:0007283 spermatogenesis
GO:0019255 glucose 1-phosphate metabolic process
GO:0030097 hemopoiesis
GO:0071704 organic substance metabolic process

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK225363 - Homo sapiens mRNA for phosphoglucomutase 3 variant, clone: HEP16446.
AK001365 - Homo sapiens cDNA FLJ10503 fis, clone NT2RP2000422, highly similar to Homo sapiens N-acetylglucosamine-phosphate mutase mRNA.
AF102265 - Homo sapiens N-acetylglucosamine-phosphate mutase mRNA, complete cds.
AB032081 - Homo sapiens HsAGM1 mRNA for phosphoacetylglucosamine mutase, complete cds.
AF180371 - Homo sapiens N-acetylglucosamine-phosphate mutase mRNA, complete cds.
BC001258 - Homo sapiens phosphoglucomutase 3, mRNA (cDNA clone MGC:5002 IMAGE:3451677), complete cds.
AK023432 - Homo sapiens cDNA FLJ13370 fis, clone PLACE1000653, highly similar to Phosphoacetylglucosamine mutase (EC 5.4.2.3).
AK301867 - Homo sapiens cDNA FLJ55543 complete cds, highly similar to Phosphoacetylglucosamine mutase (EC 5.4.2.3).
AK314512 - Homo sapiens cDNA, FLJ95330, Homo sapiens phosphoglucomutase 3 (PGM3), mRNA.
KJ897325 - Synthetic construct Homo sapiens clone ccsbBroadEn_06719 PGM3 gene, encodes complete protein.
AK021676 - Homo sapiens cDNA FLJ11614 fis, clone HEMBA1004015.
AK023685 - Homo sapiens cDNA FLJ13623 fis, clone PLACE1010965.
AL117443 - Homo sapiens mRNA; cDNA DKFZp434B187 (from clone DKFZp434B187).
AK023709 - Homo sapiens cDNA FLJ13647 fis, clone PLACE1011332, highly similar to Homo sapiens N-acetylglucosamine-phosphate mutase mRNA.
JD345908 - Sequence 326932 from Patent EP1572962.
JD082920 - Sequence 63944 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5514 - UDP-N-acetyl-D-galactosamine biosynthesis II
UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein O95394 (Reactome details) participates in the following event(s):

R-HSA-446185 Isomerization of GlcNAc6P to GlcNAc1P
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: AGM1 , AGM1_HUMAN, B2RB65, B4DX94, D6RF12, E1P547, E9PF86, ENST00000513973.1, ENST00000513973.2, ENST00000513973.3, ENST00000513973.4, ENST00000513973.5, NM_015599, O95394, PGM3 , Q5JWR4, Q96J46, Q9H8G5, Q9NS94, Q9NTT6, Q9UFV5, Q9UIY2, uc323kwr.1, uc323kwr.2
UCSC ID: ENST00000513973.6_9
RefSeq Accession: NM_015599.3
Protein: O95394 (aka AGM1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PGM3:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.