ENSG00000089597


Homo sapiens

Features
Gene ID: ENSG00000089597
  
Biological name :GANAB
  
Synonyms : GANAB / glucosidase II alpha subunit / Q14697
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q12.3
Gene start: 62624826
Gene end: 62646726
  
Corresponding Affymetrix probe sets: 211934_x_at (Human Genome U133 Plus 2.0 Array)   214626_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000434805
Ensembl peptide - ENSP00000433799
Ensembl peptide - ENSP00000434921
Ensembl peptide - ENSP00000442962
Ensembl peptide - ENSP00000435306
Ensembl peptide - ENSP00000340466
Ensembl peptide - ENSP00000349053
Ensembl peptide - ENSP00000432181
Ensembl peptide - ENSP00000432593
NCBI entrez gene - 23193     See in Manteia.
OMIM - 104160
RefSeq - XM_017017414
RefSeq - NM_001278192
RefSeq - NM_001278193
RefSeq - NM_001278194
RefSeq - NM_001329223
RefSeq - NM_198334
RefSeq - NM_198335
RefSeq - XM_017017412
RefSeq - XM_017017413
RefSeq Peptide - NP_001265123
RefSeq Peptide - NP_001316152
RefSeq Peptide - NP_938148
RefSeq Peptide - NP_938149
RefSeq Peptide - NP_001316151
RefSeq Peptide - NP_001265121
RefSeq Peptide - NP_001265122
swissprot - V9HWJ0
swissprot - E9PQ69
swissprot - E9PNH1
swissprot - F5H6X6
swissprot - Q14697
swissprot - E9PKU7
Ensembl - ENSG00000089597
  
Related genetic diseases (OMIM): 600666 - Polycystic kidney disease 3, 600666
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
 ganabENSDARG00000076811Danio rerio
 zgc:171967ENSDARG00000076888Danio rerio
 GanabENSMUSG00000071650Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GANC / Q8TET4 / glucosidase alpha, neutral CENSG0000021401348
GAA / P10253 / glucosidase alpha, acidENSG0000017129827
MGAM / O43451 / maltase-glucoamylaseENSG0000025733526
SI / P14410 / sucrase-isomaltaseENSG0000009040224
MGAM2 / Q2M2H8 / maltase-glucoamylase 2 (putative)ENSG0000025774323
MYORG / Q6NSJ0 / myogenesis regulating glycosidase (putative)ENSG0000016497612


Protein motifs (from Interpro)
Interpro ID Name
 IPR000322  Glycoside hydrolase family 31
 IPR011013  Galactose mutarotase-like domain superfamily
 IPR017853  Glycoside hydrolase superfamily
 IPR025887  Glycoside hydrolase family 31, N-terminal domain
 IPR030458  Glycosyl hydrolases family 31, active site
 IPR030459  Glycosyl hydrolases family 31, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0017177 glucosidase II complex IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0033919 glucan 1,3-alpha-glucosidase activity IEA


Pathways (from Reactome)
Pathway description
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Calnexin/calreticulin cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000113 Polycystic kidney 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001407 Hepatic cysts 
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 HP:0001410 Decreased liver function 
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 HP:0003828 Variable expressivity 
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 HP:0004944 Cerebral aneurysm "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167004 PDIA3 / P30101 / protein disulfide isomerase family A member 3  / reaction
 ENSG00000110917 MLEC / Q14165 / malectin  / reaction
 ENSG00000130175 P14314 / PRKCSH / protein kinase C substrate 80K-H  / complex
 ENSG00000179218 CALR / P27797 / calreticulin  / reaction
 ENSG00000127022 CANX / P27824 / calnexin  / reaction






 

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contact: otassy@igbmc.fr