ENSG00000079739


Homo sapiens

Features
Gene ID: ENSG00000079739
  
Biological name :PGM1
  
Synonyms : P36871 / PGM1 / phosphoglucomutase 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.3
Gene start: 63593276
Gene end: 63660245
  
Corresponding Affymetrix probe sets: 201968_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360124
Ensembl peptide - ENSP00000360125
Ensembl peptide - ENSP00000443449
NCBI entrez gene - 5236     See in Manteia.
OMIM - 171900
RefSeq - NM_001172819
RefSeq - NM_001172818
RefSeq - NM_002633
RefSeq Peptide - NP_001166289
RefSeq Peptide - NP_001166290
RefSeq Peptide - NP_002624
swissprot - P36871
Ensembl - ENSG00000079739
  
Related genetic diseases (OMIM): 614921 - Congenital disorder of glycosylation, type It, 614921
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PGM1ENSGALG00000011016Gallus gallus
 Pgm2ENSMUSG00000025791Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PGM5 / Q15124 / phosphoglucomutase 5ENSG0000015433066


Protein motifs (from Interpro)
Interpro ID Name
 IPR005841  Alpha-D-phosphohexomutase superfamily
 IPR005843  Alpha-D-phosphohexomutase, C-terminal
 IPR005844  Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
 IPR005845  Alpha-D-phosphohexomutase, alpha/beta/alpha domain II
 IPR005846  Alpha-D-phosphohexomutase, alpha/beta/alpha domain III
 IPR016055  Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
 IPR016066  Alpha-D-phosphohexomutase, conserved site
 IPR036900  Alpha-D-phosphohexomutase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005978 glycogen biosynthetic process IBA
 biological_processGO:0005980 glycogen catabolic process TAS
 biological_processGO:0006006 glucose metabolic process NAS
 biological_processGO:0006094 gluconeogenesis TAS
 biological_processGO:0006096 glycolytic process TAS
 biological_processGO:0019388 galactose catabolic process IBA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0071704 organic substance metabolic process IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm NAS
 cellular_componentGO:0005829 cytosol IBA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0004614 phosphoglucomutase activity EXP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0016868 intramolecular transferase activity, phosphotransferases IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Glycogen synthesis
Defective PGM1 causes PGM1-CDG (CDG1t)
Neutrophil degranulation
Glycogen breakdown (glycogenolysis)
Galactose catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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