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Protein

Phosphoacetylglucosamine mutase

Gene

PGM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)
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
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

Carbohydrate metabolism

Keywords - Ligandi

Magnesium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00347-MONOMER.
ZFISH:HS00347-MONOMER.
BRENDAi5.4.2.3. 2681.
ReactomeiR-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SABIO-RKO95394.
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

HGNCiHGNC:8907. PGM3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs267608260dbSNPEnsembl.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 Publication1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant rs587777562dbSNPEnsembl.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant rs587777415dbSNPEnsembl.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 rs587777565dbSNPEnsembl.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant rs587777413dbSNPEnsembl.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant rs267608261dbSNPEnsembl.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. 14 interactors.
IntActiO95394. 1 interactor.
MINTiMINT-5000376.
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.
OMAiEPFTRCV.
OrthoDBiEOG091G065D.
PhylomeDBiO95394.
TreeFamiTF105670.

Family and domain databases

CDDicd03086. PGM3. 1 hit.
Gene3Di3.30.310.50. 1 hit.
3.40.120.10. 3 hits.
InterProiIPR005844. A-D-PHexomutase_a/b/a-I.
IPR016055. A-D-PHexomutase_a/b/a-I/II/III.
IPR005843. A-D-PHexomutase_C.
IPR016066. A-D-PHexomutase_CS.
IPR016657. PAGM.
[Graphical view]
PfamiPF02878. PGM_PMM_I. 2 hits.
PF00408. PGM_PMM_IV. 1 hit.
[Graphical view]
PIRSFiPIRSF016408. PAGM. 1 hit.
SUPFAMiSSF53738. SSF53738. 3 hits.
SSF55957. SSF55957. 1 hit.
PROSITEiPS00710. PGM_PMM. 1 hit.
[Graphical view]

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 rs267608260dbSNPEnsembl.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 Publication1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant rs587777562dbSNPEnsembl.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant rs587777415dbSNPEnsembl.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 rs587777565dbSNPEnsembl.1
Natural variantiVAR_013489466D → N in allele PGM3*2. 3 PublicationsCorresponds to variant rs473267dbSNPEnsembl.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant rs587777413dbSNPEnsembl.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant rs267608261dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO95394.
SMRiO95394.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111257. 14 interactors.
IntActiO95394. 1 interactor.
MINTiMINT-5000376.
STRINGi9606.ENSP00000425809.

PTM databases

iPTMnetiO95394.
PhosphoSitePlusiO95394.

Polymorphism and mutation databases

BioMutaiPGM3.

Proteomic databases

EPDiO95394.
MaxQBiO95394.
PaxDbiO95394.
PeptideAtlasiO95394.
PRIDEiO95394.

Protocols and materials databases

DNASUi5238.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi5238.
DisGeNETi5238.
GeneCardsiPGM3.
HGNCiHGNC:8907. PGM3.
HPAiCAB004998.
HPA029759.
HPA029760.
MalaCardsiPGM3.
MIMi172100. gene.
615816. phenotype.
neXtProtiNX_O95394.
OpenTargetsiENSG00000013375.
PharmGKBiPA33244.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00113; UER00530.
BioCyciMetaCyc:HS00347-MONOMER.
ZFISH:HS00347-MONOMER.
BRENDAi5.4.2.3. 2681.
ReactomeiR-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SABIO-RKO95394.

Miscellaneous databases

ChiTaRSiPGM3. human.
GeneWikiiPhosphoglucomutase_3.
GenomeRNAii5238.
PROiO95394.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000013375.
CleanExiHS_PGM3.
ExpressionAtlasiO95394. baseline and differential.
GenevisibleiO95394. HS.

Family and domain databases

CDDicd03086. PGM3. 1 hit.
Gene3Di3.30.310.50. 1 hit.
3.40.120.10. 3 hits.
InterProiIPR005844. A-D-PHexomutase_a/b/a-I.
IPR016055. A-D-PHexomutase_a/b/a-I/II/III.
IPR005843. A-D-PHexomutase_C.
IPR016066. A-D-PHexomutase_CS.
IPR016657. PAGM.
[Graphical view]
PfamiPF02878. PGM_PMM_I. 2 hits.
PF00408. PGM_PMM_IV. 1 hit.
[Graphical view]
PIRSFiPIRSF016408. PAGM. 1 hit.
SUPFAMiSSF53738. SSF53738. 3 hits.
SSF55957. SSF55957. 1 hit.
PROSITEiPS00710. PGM_PMM. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 1999
Last modified: November 30, 2016
This is version 173 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.