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UniProtKB - P36871 (PGM1_HUMAN)

Protein

Phosphoglucomutase-1

Gene

PGM1

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

Functioni

This enzyme participates in both the breakdown and synthesis of glucose.

Catalytic activityi

Alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.2 Publications

Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

Activity regulationi

Glucose-1,6-bisphosphate enhances phosphorylation of the active site Ser-117, and thereby increases enzyme activity.1 Publication

Kineticsi

  1. KM=80 µM for alpha-D-glucose 1-phosphate1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei19SubstrateBy similarity1
    Binding sitei23SubstrateBy similarity1
    Active sitei117Phosphoserine intermediate1 Publication1
    Metal bindingi117Magnesium; via phosphate groupBy similarity1
    Binding sitei130SubstrateBy similarity1
    Metal bindingi288Magnesium1 Publication1
    Metal bindingi290Magnesium1 Publication1
    Metal bindingi292Magnesium1 Publication1
    Binding sitei357SubstrateBy similarity1
    Binding sitei389SubstrateBy similarity1
    Binding sitei515SubstrateBy similarity1

    GO - Molecular functioni

    • magnesium ion binding Source: UniProtKB
    • phosphoglucomutase activity Source: UniProtKB
    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    Keywordsi

    Molecular functionIsomerase
    Biological processCarbohydrate metabolism, Glucose metabolism
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01335-MONOMER
    ReactomeiR-HSA-3322077 Glycogen synthesis
    R-HSA-5609974 Defective PGM1 causes PGM1-CDG (CDG1t)
    R-HSA-6798695 Neutrophil degranulation
    R-HSA-70221 Glycogen breakdown (glycogenolysis)
    R-HSA-70370 Galactose catabolism
    SABIO-RKiP36871
    SIGNORiP36871

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphoglucomutase-1 (EC:5.4.2.22 Publications)
    Short name:
    PGM 1
    Alternative name(s):
    Glucose phosphomutase 1
    Gene namesi
    Name:PGM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 1

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000079739.15
    HGNCiHGNC:8905 PGM1
    MIMi171900 gene
    neXtProtiNX_P36871

    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

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1T (CDG1T)6 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
    See also OMIM:614921
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 Publications1
    Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
    Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770Ensembl.1
    Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
    Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
    Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
    Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 Publications1
    Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
    Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
    Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
    Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
    Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
    Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.1

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation, Glycogen storage disease

    Organism-specific databases

    DisGeNETi5236
    GeneReviewsiPGM1
    MalaCardsiPGM1
    MIMi614921 phenotype
    OpenTargetsiENSG00000079739
    Orphaneti711 Glycogen storage disease due to phosphoglucomutase deficiency
    319646 PGM-CDG
    PharmGKBiPA33242

    Chemistry databases

    DrugBankiDB04397 Alpha-D-Glucose-1-Phosphate-6-Vanadate

    Polymorphism and mutation databases

    BioMutaiPGM1
    DMDMi585670

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001477761 – 562Phosphoglucomutase-1Add BLAST562

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei1N-acetylmethionineCombined sources1
    Modified residuei16N6-acetyllysineCombined sources1
    Modified residuei115PhosphothreonineBy similarity1
    Modified residuei117PhosphoserineCombined sources1 Publication1
    Modified residuei134PhosphoserineBy similarity1
    Modified residuei185PhosphothreonineCombined sources1
    Modified residuei201PhosphoserineCombined sources1
    Modified residuei206PhosphoserineCombined sources1
    Modified residuei213PhosphoserineBy similarity1
    Modified residuei349N6-acetyllysineBy similarity1
    Modified residuei353PhosphotyrosineBy similarity1
    Modified residuei369PhosphoserineBy similarity1
    Modified residuei378PhosphoserineCombined sources1
    Modified residuei419N6-succinyllysineBy similarity1
    Modified residuei467Phosphothreonine; by PAK11 Publication1
    Modified residuei477PhosphoserineBy similarity1
    Modified residuei485PhosphoserineBy similarity1
    Modified residuei505PhosphoserineCombined sources1
    Modified residuei507PhosphothreonineBy similarity1
    Modified residuei509PhosphoserineCombined sources1
    Modified residuei541PhosphoserineBy similarity1
    Isoform 2 (identifier: P36871-2)
    Modified residuei1N-acetylmethionineCombined sources1

    Post-translational modificationi

    Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity.1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    EPDiP36871
    MaxQBiP36871
    PeptideAtlasiP36871
    PRIDEiP36871
    ProteomicsDBi55222
    55223 [P36871-2]
    TopDownProteomicsiP36871-1 [P36871-1]

    2D gel databases

    REPRODUCTION-2DPAGEiP36871

    PTM databases

    iPTMnetiP36871
    PhosphoSitePlusiP36871
    SwissPalmiP36871

    Expressioni

    Gene expression databases

    BgeeiENSG00000079739 Expressed in 234 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
    CleanExiHS_PGM1
    GenevisibleiP36871 HS

    Organism-specific databases

    HPAiCAB004666
    HPA024190
    HPA024637
    HPA046329

    Interactioni

    Subunit structurei

    Monomer.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TINF2Q9BSI42EBI-2861475,EBI-717399

    Protein-protein interaction databases

    BioGridi111256, 44 interactors
    DIPiDIP-60903N
    IntActiP36871, 12 interactors

    Structurei

    Secondary structure

    1562
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliP36871
    SMRiP36871
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni117 – 118Substrate bindingBy similarity2
    Regioni292 – 293Substrate bindingBy similarity2
    Regioni376 – 378Substrate bindingBy similarity3

    Sequence similaritiesi

    Belongs to the phosphohexose mutase family.Curated

    Phylogenomic databases

    GeneTreeiENSGT00390000011831
    HOVERGENiHBG101372
    InParanoidiP36871
    KOiK01835
    OMAiDIYKIYA
    OrthoDBiEOG091G0HZ0
    PhylomeDBiP36871
    TreeFamiTF300350

    Family and domain databases

    InterProiView protein in InterPro
    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
    IPR005846 A-D-PHexomutase_a/b/a-III
    IPR005843 A-D-PHexomutase_C
    IPR036900 A-D-PHexomutase_C_sf
    IPR016066 A-D-PHexomutase_CS
    IPR005841 Alpha-D-phosphohexomutase_SF
    PfamiView protein in Pfam
    PF02878 PGM_PMM_I, 1 hit
    PF02879 PGM_PMM_II, 1 hit
    PF02880 PGM_PMM_III, 1 hit
    PF00408 PGM_PMM_IV, 1 hit
    PRINTSiPR00509 PGMPMM
    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: P36871-1) [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
    MVKIVTVKTQ AYQDQKPGTS GLRKRVKVFQ SSANYAENFI QSIISTVEPA 
            60         70         80         90        100
    QRQEATLVVG GDGRFYMKEA IQLIARIAAA NGIGRLVIGQ NGILSTPAVS 
           110        120        130        140        150
    CIIRKIKAIG GIILTASHNP GGPNGDFGIK FNISNGGPAP EAITDKIFQI 
           160        170        180        190        200
    SKTIEEYAVC PDLKVDLGVL GKQQFDLENK FKPFTVEIVD SVEAYATMLR 
           210        220        230        240        250
    SIFDFSALKE LLSGPNRLKI RIDAMHGVVG PYVKKILCEE LGAPANSAVN 
           260        270        280        290        300
    CVPLEDFGGH HPDPNLTYAA DLVETMKSGE HDFGAAFDGD GDRNMILGKH 
           310        320        330        340        350
    GFFVNPSDSV AVIAANIFSI PYFQQTGVRG FARSMPTSGA LDRVASATKI 
           360        370        380        390        400
    ALYETPTGWK FFGNLMDASK LSLCGEESFG TGSDHIREKD GLWAVLAWLS 
           410        420        430        440        450
    ILATRKQSVE DILKDHWQKY GRNFFTRYDY EEVEAEGANK MMKDLEALMF 
           460        470        480        490        500
    DRSFVGKQFS ANDKVYTVEK ADNFEYSDPV DGSISRNQGL RLIFTDGSRI 
           510        520        530        540        550
    VFRLSGTGSA GATIRLYIDS YEKDVAKINQ DPQVMLAPLI SIALKVSQLQ 
           560 
    ERTGRTAPTV IT
    Length:562
    Mass (Da):61,449
    Last modified:January 23, 2007 - v3
    Checksum:i61A26C19107D467A
    GO
    Isoform 2 (identifier: P36871-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-77: MVKIVTVKTQ...KEAIQLIARI → MSDFEEWISG...KSAIETIVQM

    Show »
    Length:580
    Mass (Da):63,791
    Checksum:iCE4F9CA4094B5139
    GO
    Isoform 3 (identifier: P36871-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-197: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:365
    Mass (Da):40,283
    Checksum:iE0696E6FD7170D62
    GO

    Sequence cautioni

    The sequence AAH90856 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti134S → C in AAH67763 (PubMed:15489334).Curated1

    Polymorphismi

    Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 Publications1
    Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
    Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770Ensembl.1
    Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
    Natural variantiVAR_00609068K → M in allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200390982Ensembl.1
    Natural variantiVAR_05049688I → V. Corresponds to variant dbSNP:rs855314EnsemblClinVar.1
    Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
    Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
    Natural variantiVAR_006091221R → C in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 5 PublicationsCorresponds to variant dbSNP:rs1126728EnsemblClinVar.1
    Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 Publications1
    Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
    Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
    Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
    Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
    Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
    Natural variantiVAR_006092420Y → H in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; phosphoglucomutase activity is similar to wild-type. 6 PublicationsCorresponds to variant dbSNP:rs11208257EnsemblClinVar.1
    Natural variantiVAR_034380501V → I. Corresponds to variant dbSNP:rs6676290EnsemblClinVar.1
    Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0452041 – 197Missing in isoform 3. 1 PublicationAdd BLAST197
    Alternative sequenceiVSP_0046861 – 77MVKIV…LIARI → MSDFEEWISGTYRKMEEGPL PLLTFATAPYHDQKPGTSGL RKKTYYFEEKPCYLENFIQS IFFSIDLKDRQGSSLVVGGD GRYFNKSAIETIVQM in isoform 2. CuratedAdd BLAST77

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		M83088 mRNA Translation: AAA60080.1
    BT006961 mRNA Translation: AAP35607.1
    AK298505 mRNA Translation: BAG60712.1
    AK312254 mRNA Translation: BAG35186.1
    AL109925 Genomic DNA No translation available.
    BC001756 mRNA Translation: AAH01756.3
    BC019920 mRNA Translation: AAH19920.1
    BC067763 mRNA Translation: AAH67763.2
    BC090856 mRNA Translation: AAH90856.1 Different initiation.
    S67989 Genomic DNA Translation: AAB29177.2
    S67998 Genomic DNA Translation: AAB29178.1
    CCDSiCCDS53323.1 [P36871-2]
    CCDS53324.1 [P36871-3]
    CCDS625.1 [P36871-1]
    PIRiA41801
    S39397
    RefSeqiNP_001166289.1, NM_001172818.1 [P36871-2]
    NP_001166290.1, NM_001172819.1 [P36871-3]
    NP_002624.2, NM_002633.2 [P36871-1]
    UniGeneiHs.1869

    Genome annotation databases

    EnsembliENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
    ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
    ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]
    GeneIDi5236
    KEGGihsa:5236
    UCSCiuc001dbh.5 human [P36871-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		M83088 mRNA Translation: AAA60080.1
    BT006961 mRNA Translation: AAP35607.1
    AK298505 mRNA Translation: BAG60712.1
    AK312254 mRNA Translation: BAG35186.1
    AL109925 Genomic DNA No translation available.
    BC001756 mRNA Translation: AAH01756.3
    BC019920 mRNA Translation: AAH19920.1
    BC067763 mRNA Translation: AAH67763.2
    BC090856 mRNA Translation: AAH90856.1 Different initiation.
    S67989 Genomic DNA Translation: AAB29177.2
    S67998 Genomic DNA Translation: AAB29178.1
    CCDSiCCDS53323.1 [P36871-2]
    CCDS53324.1 [P36871-3]
    CCDS625.1 [P36871-1]
    PIRiA41801
    S39397
    RefSeqiNP_001166289.1, NM_001172818.1 [P36871-2]
    NP_001166290.1, NM_001172819.1 [P36871-3]
    NP_002624.2, NM_002633.2 [P36871-1]
    UniGeneiHs.1869

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5EPCX-ray1.85A/B1-562[»]
    5F9CX-ray2.50A/B1-562[»]
    5HSHX-ray2.65A/B1-562[»]
    5JN5X-ray1.75A/B1-562[»]
    5TR2X-ray2.50A/B1-562[»]
    5VBIX-ray1.75A/B1-562[»]
    5VECX-ray2.20A/B1-562[»]
    5VG7X-ray1.95A/B1-562[»]
    5VINX-ray2.60A/B1-562[»]
    ProteinModelPortaliP36871
    SMRiP36871
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi111256, 44 interactors
    DIPiDIP-60903N
    IntActiP36871, 12 interactors

    Chemistry databases

    DrugBankiDB04397 Alpha-D-Glucose-1-Phosphate-6-Vanadate

    PTM databases

    iPTMnetiP36871
    PhosphoSitePlusiP36871
    SwissPalmiP36871

    Polymorphism and mutation databases

    BioMutaiPGM1
    DMDMi585670

    2D gel databases

    REPRODUCTION-2DPAGEiP36871

    Proteomic databases

    EPDiP36871
    MaxQBiP36871
    PeptideAtlasiP36871
    PRIDEiP36871
    ProteomicsDBi55222
    55223 [P36871-2]
    TopDownProteomicsiP36871-1 [P36871-1]

    Protocols and materials databases

    DNASUi5236
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
    ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
    ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]
    GeneIDi5236
    KEGGihsa:5236
    UCSCiuc001dbh.5 human [P36871-1]

    Organism-specific databases

    CTDi5236
    DisGeNETi5236
    EuPathDBiHostDB:ENSG00000079739.15
    GeneCardsiPGM1
    GeneReviewsiPGM1
    HGNCiHGNC:8905 PGM1
    HPAiCAB004666
    HPA024190
    HPA024637
    HPA046329
    MalaCardsiPGM1
    MIMi171900 gene
    614921 phenotype
    neXtProtiNX_P36871
    OpenTargetsiENSG00000079739
    Orphaneti711 Glycogen storage disease due to phosphoglucomutase deficiency
    319646 PGM-CDG
    PharmGKBiPA33242
    GenAtlasiSearch...

    Phylogenomic databases

    GeneTreeiENSGT00390000011831
    HOVERGENiHBG101372
    InParanoidiP36871
    KOiK01835
    OMAiDIYKIYA
    OrthoDBiEOG091G0HZ0
    PhylomeDBiP36871
    TreeFamiTF300350

    Enzyme and pathway databases

    BioCyciMetaCyc:HS01335-MONOMER
    ReactomeiR-HSA-3322077 Glycogen synthesis
    R-HSA-5609974 Defective PGM1 causes PGM1-CDG (CDG1t)
    R-HSA-6798695 Neutrophil degranulation
    R-HSA-70221 Glycogen breakdown (glycogenolysis)
    R-HSA-70370 Galactose catabolism
    SABIO-RKiP36871
    SIGNORiP36871

    Miscellaneous databases

    ChiTaRSiPGM1 human
    GeneWikiiPGM1
    GenomeRNAii5236
    PROiPR:P36871
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000079739 Expressed in 234 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
    CleanExiHS_PGM1
    GenevisibleiP36871 HS

    Family and domain databases

    InterProiView protein in InterPro
    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
    IPR005846 A-D-PHexomutase_a/b/a-III
    IPR005843 A-D-PHexomutase_C
    IPR036900 A-D-PHexomutase_C_sf
    IPR016066 A-D-PHexomutase_CS
    IPR005841 Alpha-D-phosphohexomutase_SF
    PfamiView protein in Pfam
    PF02878 PGM_PMM_I, 1 hit
    PF02879 PGM_PMM_II, 1 hit
    PF02880 PGM_PMM_III, 1 hit
    PF00408 PGM_PMM_IV, 1 hit
    PRINTSiPR00509 PGMPMM
    SUPFAMiSSF53738 SSF53738, 3 hits
    SSF55957 SSF55957, 1 hit
    PROSITEiView protein in PROSITE
    PS00710 PGM_PMM, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiPGM1_HUMAN
    AccessioniPrimary (citable) accession number: P36871
    Secondary accession number(s): B2R5N9
    , B4DPV0, Q16105, Q16106, Q5BKZ9, Q6NW22, Q86U74, Q96J40, Q9NTY4
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: January 23, 2007
    Last modified: October 10, 2018
    This is version 189 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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