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Protein

Phosphoacetylglucosamine mutase

Gene

PGM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.3 Publications

Catalytic activityi

N-acetyl-alpha-D-glucosamine 1-phosphate = N-acetyl-D-glucosamine 6-phosphate.3 Publications

Cofactori

Mg2+By similarityNote: Binds 1 Mg2+ ion per subunit.By similarity

Pathwayi: UDP-N-acetyl-alpha-D-glucosamine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I).3 Publications
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Glucosamine 6-phosphate N-acetyltransferase (GNPNAT1)
  2. Phosphoacetylglucosamine mutase (PGM3), Phosphoacetylglucosamine mutase (PGM3), Phosphoacetylglucosamine mutase
This subpathway is part of the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I), the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei64Phosphoserine intermediate1 Publication1
Metal bindingi64Magnesium; via phosphate groupBy similarity1
Metal bindingi276MagnesiumBy similarity1
Metal bindingi278MagnesiumBy similarity1
Metal bindingi280MagnesiumBy similarity1
Binding sitei505SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB-KW
  • glucosamine metabolic process Source: UniProtKB
  • glucose 1-phosphate metabolic process Source: Ensembl
  • hemopoiesis Source: GO_Central
  • protein N-linked glycosylation Source: UniProtKB
  • protein O-linked glycosylation Source: UniProtKB
  • spermatogenesis Source: Ensembl
  • UDP-N-acetylglucosamine biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionIsomerase
Biological processCarbohydrate metabolism
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00347-MONOMER
BRENDAi5.4.2.3 2681
ReactomeiR-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SABIO-RKiO95394
UniPathwayiUPA00113; UER00530

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphoacetylglucosamine mutaseCurated (EC:5.4.2.33 Publications)
Short name:
PAGM
Alternative name(s):
Acetylglucosamine phosphomutaseCurated
N-acetylglucosamine-phosphate mutase1 Publication
Phosphoglucomutase-3Imported
Short name:
PGM 3
Gene namesi
Name:PGM3Imported
Synonyms:AGM11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000013375.15
HGNCiHGNC:8907 PGM3
MIMi172100 gene
neXtProtiNX_O95394

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 23 (IMD23)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity.
See also OMIM:615816
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07135983L → S in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608260EnsemblClinVar.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs869312886Ensembl.1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777562EnsemblClinVar.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777415Ensembl.1
Natural variantiVAR_071363340Missing in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 Publication1
Natural variantiVAR_071364451Q → R in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777565EnsemblClinVar.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777413Ensembl.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608261EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi64S → A: Loss of activity. 1 Publication1
Mutagenesisi65H → A: Loss of activity. 1 Publication1
Mutagenesisi278D → A or E: Loss of activity. 1 Publication1
Mutagenesisi281R → A or K: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5238
MalaCardsiPGM3
MIMi615816 phenotype
OpenTargetsiENSG00000013375
PharmGKBiPA33244

Polymorphism and mutation databases

BioMutaiPGM3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001480131 – 542Phosphoacetylglucosamine mutaseAdd BLAST542

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei62PhosphothreonineCombined sources1
Modified residuei64PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO95394
MaxQBiO95394
PaxDbiO95394
PeptideAtlasiO95394
PRIDEiO95394

PTM databases

iPTMnetiO95394
PhosphoSitePlusiO95394

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000013375
CleanExiHS_PGM3
ExpressionAtlasiO95394 baseline and differential
GenevisibleiO95394 HS

Organism-specific databases

HPAiCAB004998
HPA029759
HPA029760

Interactioni

Protein-protein interaction databases

BioGridi111257, 18 interactors
IntActiO95394, 1 interactor
STRINGi9606.ENSP00000425809

Structurei

3D structure databases

ProteinModelPortaliO95394
SMRiO95394
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni370 – 372Substrate bindingBy similarity3
Regioni496 – 500Substrate bindingBy similarity5

Sequence similaritiesi

Belongs to the phosphohexose mutase family.Curated

Phylogenomic databases

eggNOGiKOG2537 Eukaryota
COG1109 LUCA
GeneTreeiENSGT00390000000509
HOGENOMiHOG000210027
HOVERGENiHBG024321
InParanoidiO95394
KOiK01836
OMAiLHYMVCC
OrthoDBiEOG091G065D
PhylomeDBiO95394
TreeFamiTF105670

Family and domain databases

CDDicd03086 PGM3, 1 hit
InterProiView protein in InterPro
IPR005844 A-D-PHexomutase_a/b/a-I
IPR016055 A-D-PHexomutase_a/b/a-I/II/III
IPR005843 A-D-PHexomutase_C
IPR036900 A-D-PHexomutase_C_sf
IPR016066 A-D-PHexomutase_CS
IPR016657 PAGM
PfamiView protein in Pfam
PF02878 PGM_PMM_I, 2 hits
PF00408 PGM_PMM_IV, 1 hit
PIRSFiPIRSF016408 PAGM, 1 hit
SUPFAMiSSF53738 SSF53738, 3 hits
SSF55957 SSF55957, 1 hit
PROSITEiView protein in PROSITE
PS00710 PGM_PMM, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95394-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDLGAITKYS ALHAKPNGLI LQYGTAGFRT KAEHLDHVMF RMGLLAVLRS
60 70 80 90 100
KQTKSTIGVM VTASHNPEED NGVKLVDPLG EMLAPSWEEH ATCLANAEEQ
110 120 130 140 150
DMQRVLIDIS EKEAVNLQQD AFVVIGRDTR PSSEKLSQSV IDGVTVLGGQ
160 170 180 190 200
FHDYGLLTTP QLHYMVYCRN TGGRYGKATI EGYYQKLSKA FVELTKQASC
210 220 230 240 250
SGDEYRSLKV DCANGIGALK LREMEHYFSQ GLSVQLFNDG SKGKLNHLCG
260 270 280 290 300
ADFVKSHQKP PQGMEIKSNE RCCSFDGDAD RIVYYYHDAD GHFHLIDGDK
310 320 330 340 350
IATLISSFLK ELLVEIGESL NIGVVQTAYA NGSSTRYLEE VMKVPVYCTK
360 370 380 390 400
TGVKHLHHKA QEFDIGVYFE ANGHGTALFS TAVEMKIKQS AEQLEDKKRK
410 420 430 440 450
AAKMLENIID LFNQAAGDAI SDMLVIEAIL ALKGLTVQQW DALYTDLPNR
460 470 480 490 500
QLKVQVADRR VISTTDAERQ AVTPPGLQEA INDLVKKYKL SRAFVRPSGT
510 520 530 540
EDVVRVYAEA DSQESADHLA HEVSLAVFQL AGGIGERPQP GF
Length:542
Mass (Da):59,852
Last modified:May 1, 1999 - v1
Checksum:i6A4FBCD99A2154A9
GO
Isoform 2 (identifier: O95394-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     542-542: F → YKAAETTHNINNAFGPGTANEHTVP

Note: Gene prediction based on EST data.
Show »
Length:566
Mass (Da):62,342
Checksum:i81691708BD389ECF
GO
Isoform 3 (identifier: O95394-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGEWGQSAICPESAQEWTYQVGQHLVDM

Note: No experimental confirmation available.
Show »
Length:570
Mass (Da):62,941
Checksum:i3F59B307C746CF8D
GO

Sequence cautioni

The sequence BAB14652 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5A → V in BAG63306 (PubMed:14702039).Curated1
Sequence conflicti70D → G in BAG63306 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07135983L → S in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608260EnsemblClinVar.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs869312886Ensembl.1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777562EnsemblClinVar.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777415Ensembl.1
Natural variantiVAR_071363340Missing in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 Publication1
Natural variantiVAR_071364451Q → R in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777565EnsemblClinVar.1
Natural variantiVAR_013489466D → N in allele PGM3*2. 3 PublicationsCorresponds to variant dbSNP:rs473267Ensembl.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777413Ensembl.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608261EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0473191M → MGGEWGQSAICPESAQEWTY QVGQHLVDM in isoform 3. 1 Publication1
Alternative sequenceiVSP_047320542F → YKAAETTHNINNAFGPGTAN EHTVP in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF102265 mRNA Translation: AAC72409.1
AF180371 mRNA Translation: AAD55097.1
AB032081 mRNA Translation: BAB00613.1
AK023709 mRNA Translation: BAB14652.1 Different initiation.
AK301867 mRNA Translation: BAG63306.1
AK314512 mRNA Translation: BAG37112.1
AL049699 Genomic DNA No translation available.
AL121716 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48670.1
CH471051 Genomic DNA Translation: EAW48671.1
BC001258 mRNA Translation: AAH01258.1
AL117443 mRNA Translation: CAB55928.1
CCDSiCCDS4997.1 [O95394-1]
CCDS56435.1 [O95394-3]
CCDS56436.1 [O95394-4]
PIRiT17238
RefSeqiNP_001186846.1, NM_001199917.1 [O95394-4]
NP_001186848.1, NM_001199919.1 [O95394-3]
NP_056414.1, NM_015599.2 [O95394-1]
XP_016866425.1, XM_017010936.1 [O95394-3]
UniGeneiHs.661665

Genome annotation databases

EnsembliENST00000506587; ENSP00000425809; ENSG00000013375 [O95394-4]
ENST00000512866; ENSP00000421565; ENSG00000013375 [O95394-3]
ENST00000513973; ENSP00000424874; ENSG00000013375 [O95394-1]
GeneIDi5238
KEGGihsa:5238
UCSCiuc003pju.3 human [O95394-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAGM1_HUMAN
AccessioniPrimary (citable) accession number: O95394
Secondary accession number(s): B2RB65
, B4DX94, D6RF12, E1P547, E9PF86, Q5JWR4, Q96J46, Q9H8G5, Q9NS94, Q9NTT6, Q9UFV5, Q9UIY2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 1999
Last modified: May 23, 2018
This is version 184 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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