ENSMUSG00000030657


Mus musculus

Features
Gene ID: ENSMUSG00000030657
  
Biological name :Xylt1
  
Synonyms : xylosyltransferase 1 / Xylt1
  
Possible biological names infered from orthology : Q86Y38
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F1
Gene start: 117380979
Gene end: 117673580
  
Corresponding Affymetrix probe sets: 10556598 (MoGene1.0st)   1435672_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000032892
NCBI entrez gene - 233781     See in Manteia.
MGI - MGI:2451073
RefSeq - NM_175645
RefSeq Peptide - NP_783576
swissprot - F8VPK6
Ensembl - ENSMUSG00000030657
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 xylt1ENSDARG00000061248Danio rerio
 XYLT1ENSGALG00000006757Gallus gallus
 XYLT1ENSG00000103489Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Xylt2 / Q9EPL0 / xylosyltransferase II / Q9H1B5* / xylosyltransferase 2*ENSMUSG0000002086850
Gcnt2 / P97402 / N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase / Q8N0V5* / glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)*ENSMUSG0000002136010
Gcnt1 / Q09324 / Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase / Q02742* / glucosaminyl (N-acetyl) transferase 1, core 2*ENSMUSG000000388439
Gcnt4 / E9Q649 / Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 / Q9P109* / glucosaminyl (N-acetyl) transferase 4, core 2*ENSMUSG000000913879
Gcnt7 / Q3V3K7 / Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 / Q6ZNI0* / glucosaminyl (N-acetyl) transferase family member 7*ENSMUSG000000745698
Gcnt3 / Q5JCT0 / Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 / O95395* / glucosaminyl (N-acetyl) transferase 3, mucin type*ENSMUSG000000322268


Protein motifs (from Interpro)
Interpro ID Name
 IPR003406  Glycosyl transferase, family 14
 IPR024448  Xylosyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006024 glycosaminoglycan biosynthetic process IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity IEA
 molecular_functionGO:0030158 protein xylosyltransferase activity IEA


Pathways (from Reactome)
Pathway description
A tetrasaccharide linker sequence is required for GAG synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0000167 reduced chondrocyte numbers "fewer than normal numbers of nondividing cartilage cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003409 decreased width of hypertrophic chondrocyte zone "decreased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003416 premature bone ossification "early onset of the formation of bone" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003795 abnormal bone structure 
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003854 abnormal forelimb stylopod morphology 
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003855 abnormal forelimb zeugopod morphology 
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003856 abnormal hindlimb stylopod morphology 
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0003857 abnormal hindlimb zeugopod morphology 
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0004672 short ribs "reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0008272 abnormal endochondral bone ossification "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0008396 abnormal osteoclast differentiation "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0009347 increased cancellous bone thickness "thicker than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0010103 small thoracic cage "reduced size of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0010869 decreased bone trabecula number "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0010878 increased trabecular bone volume "increase in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0010932 increased trabecular bone connectivity density "increase in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523 "Principles of bone biology, Volume 1, Bilezikian, JP et al, eds"]
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0010971 abnormal periosteum morphology "any structural anomaly of the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

 MP:0011110 partial preweaning lethality "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 fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Kmt2atm1.1Jjdh/Kmt2atm1.1Jjdh,Kmt2btm1Jjdh/Kmt2btm1Jjdh
Genetic Background: involves: 129X1/SvJ

  


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






 

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