ENSMUSG00000048970


Mus musculus

Features
Gene ID: ENSMUSG00000048970
  
Biological name :C1galt1c1
  
Synonyms : C1galt1c1 / C1GALT1-specific chaperone 1 / Q9JMG2
  
Possible biological names infered from orthology : Q96EU7
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: A3.3
Gene start: 38630785
Gene end: 38635087
  
Corresponding Affymetrix probe sets: 10604226 (MoGene1.0st)   1416655_at (Mouse Genome 430 2.0 Array)   1443706_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000059224
NCBI entrez gene - 59048     See in Manteia.
MGI - MGI:1913493
RefSeq - NM_021550
RefSeq Peptide - NP_067525
swissprot - Q9JMG2
Ensembl - ENSMUSG00000048970
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 c1galt1c1ENSDARG00000036335Danio rerio
 C1GALT1C1ENSGALG00000008513Gallus gallus
 Q96EU7ENSG00000171155Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9JJ06 / C1galt1 / Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 / Q9NS00* / core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1*ENSMUSG0000004246026
B3glct / Q8BHT6 / Beta-1,3-glucosyltransferase / Q6Y288* / beta 3-glucosyltransferase*ENSMUSG0000005195016


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 IEA
 biological_processGO:0016267 O-glycan processing, core 1 IBA
 biological_processGO:0030168 platelet activation IMP
 biological_processGO:0036344 platelet morphogenesis IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IBA


Pathways (from Reactome)
Pathway description
O-linked glycosylation of mucins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
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Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0006054 spinal hemorrhage "bleeding into the spine" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: ArTfm/Ar+,EdaTa-25H/Eda+
Genetic Background: involves: 101/H * C3H/HeH

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000042460 Q9JJ06 / C1galt1 / Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 / Q9NS00* / core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1*  / complex






 

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