Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5236
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PGM1   Gene   UCSC   Ensembl
Aliases CDG1T, GSD14
Gene name phosphoglucomutase 1
Alternate names phosphoglucomutase-1, PGM 1, glucose phosphomutase 1,
Gene location 1p31.3 (63593275: 63660244)     Exons: 13     NC_000001.11
Gene summary(Entrez) The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
OMIM 171900

Protein Summary

Protein general information P36871  

Name: Phosphoglucomutase 1 (PGM 1) (EC 5.4.2.2) (Glucose phosphomutase 1)

Length: 562  Mass: 61,449

Sequence MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIA
RIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQI
SKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAM
HGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCG
EESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMF
DRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDV
AKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT
Structural information
Interpro:  IPR005844 IPR016055 IPR005845 IPR005846 IPR005843 IPR016066 IPR005841
Prosite:   PS00710

Pfam:  
PF02878 PF02879 PF02880 PF00408

PDB:  
5EPC 5F9C 5HSH 5JN5 5TR2
PDBsum:   5EPC 5F9C 5HSH 5JN5 5TR2

DIP:  
60903
MINT:   5001559
Other Databases GeneCards:  PGM1;  Malacards:  PGM1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000287 magnesium ion binding
IEA molecular_function
GO:0004614 phosphoglucomutase activi
ty
IDA molecular_function
GO:0004614 phosphoglucomutase activi
ty
EXP molecular_function
GO:0004614 phosphoglucomutase activi
ty
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
NAS cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005978 glycogen biosynthetic pro
cess
IBA biological_process
GO:0005978 glycogen biosynthetic pro
cess
TAS biological_process
GO:0005980 glycogen catabolic proces
s
TAS biological_process
GO:0006006 glucose metabolic process
NAS biological_process
GO:0006094 gluconeogenesis
TAS biological_process
GO:0006096 glycolytic process
TAS biological_process
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0019388 galactose catabolic proce
ss
IBA biological_process
GO:0019388 galactose catabolic proce
ss
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000287 magnesium ion binding
IEA molecular_function
GO:0004614 phosphoglucomutase activi
ty
IEA molecular_function
GO:0004614 phosphoglucomutase activi
ty
IDA molecular_function
GO:0004614 phosphoglucomutase activi
ty
EXP molecular_function
GO:0004614 phosphoglucomutase activi
ty
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
NAS cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0005978 glycogen biosynthetic pro
cess
IBA biological_process
GO:0005978 glycogen biosynthetic pro
cess
TAS biological_process
GO:0005980 glycogen catabolic proces
s
TAS biological_process
GO:0006006 glucose metabolic process
IEA biological_process
GO:0006006 glucose metabolic process
NAS biological_process
GO:0006094 gluconeogenesis
TAS biological_process
GO:0006096 glycolytic process
TAS biological_process
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0016853 isomerase activity
IEA molecular_function
GO:0016868 intramolecular transferas
e activity, phosphotransf
erases
IEA molecular_function
GO:0019388 galactose catabolic proce
ss
IBA biological_process
GO:0019388 galactose catabolic proce
ss
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071704 organic substance metabol
ic process
IEA biological_process
GO:0004614 phosphoglucomutase activi
ty
IDA molecular_function
GO:0004614 phosphoglucomutase activi
ty
EXP molecular_function
GO:0004614 phosphoglucomutase activi
ty
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
NAS cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005978 glycogen biosynthetic pro
cess
IBA biological_process
GO:0005978 glycogen biosynthetic pro
cess
TAS biological_process
GO:0005980 glycogen catabolic proces
s
TAS biological_process
GO:0006006 glucose metabolic process
NAS biological_process
GO:0006094 gluconeogenesis
TAS biological_process
GO:0006096 glycolytic process
TAS biological_process
GO:0015629 actin cytoskeleton
IDA cellular_component
GO:0019388 galactose catabolic proce
ss
IBA biological_process
GO:0019388 galactose catabolic proce
ss
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00010  Glycolysis / Gluconeogenesis
hsa00230  Purine metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa00500  Starch and sucrose metabolism
hsa00052  Galactose metabolism
hsa00030  Pentose phosphate pathway

Diseases

Associated diseases References
Atherosclerosis PMID: 11771313
Diabetes PMID: 19430480
Endometriosis PMID: 9102363
Glycogen storage disease KEGG: H00069
Inflammatory bowel disease PMID: 17068223
Muscle glycogen storage disease KEGG: H01762
Endometriosis INFBASE9102363

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
9102363 Endometrio
sis


AMY1
AMY2
ACP1
PGM1
SOD-A
ESD
GLO1
C3
TF
PGM1
Show abstract