ENSG00000171155


Homo sapiens

Features
Gene ID: ENSG00000171155
  
Biological name :C1GALT1C1
  
Synonyms : C1GALT1C1 / C1GALT1 specific chaperone 1 / Q96EU7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q24
Gene start: 120625793
Gene end: 120630150
  
Corresponding Affymetrix probe sets: 219283_at (Human Genome U133 Plus 2.0 Array)   238989_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000304364
Ensembl peptide - ENSP00000360363
NCBI entrez gene - 29071     See in Manteia.
OMIM - 300611
RefSeq - NM_001011551
RefSeq - NM_152692
RefSeq Peptide - NP_001011551
RefSeq Peptide - NP_689905
swissprot - Q96EU7
Ensembl - ENSG00000171155
  
Related genetic diseases (OMIM): 300622 - Tn polyagglutination syndrome, somatic, 300622
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
 c1galt1c1ENSDARG00000036335Danio rerio
 C1GALT1C1ENSGALG00000008513Gallus gallus
 Q9JMG2ENSMUSG00000048970Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P0DN25 / C1GALT1C1L / C1GALT1-specific chaperone 1 likeENSG0000022365864
Q9NS00 / C1GALT1 / core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1ENSG0000010639226
B3GLCT / Q6Y288 / beta 3-glucosyltransferaseENSG0000018767615


Protein motifs (from Interpro)
Interpro ID Name
 IPR026731  C1GALT1-specific chaperone 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006493 protein O-linked glycosylation IMP
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0016267 O-glycan processing, core 1 IBA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0036344 platelet morphogenesis IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA


Pathways (from Reactome)
Pathway description
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
O-linked glycosylation of mucins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001877 Abnormality of erythrocytes "An abnormality of erythrocytes (red-blood cells)." [HPO:curators]
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 HP:0002960 Autoimmune disease 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106392 Q9NS00 / C1GALT1 / core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1  / complex






 

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