ENSMUSG00000006731


Mus musculus

Features
Gene ID: ENSMUSG00000006731
  
Biological name :B4galnt1
  
Synonyms : B4galnt1 / Beta-1,4 N-acetylgalactosaminyltransferase 1 / Q09200
  
Possible biological names infered from orthology : beta-1,4-N-acetyl-galactosaminyltransferase 1 / Q00973
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: D3
Gene start: 127165225
Gene end: 127172330
  
Corresponding Affymetrix probe sets: 10366848 (MoGene1.0st)   1418655_at (Mouse Genome 430 2.0 Array)   1425363_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006914
Ensembl peptide - ENSMUSP00000151229
NCBI entrez gene - 14421     See in Manteia.
MGI - MGI:1342057
RefSeq - XM_017313802
RefSeq - NM_008080
RefSeq - NM_027739
RefSeq - XM_006513219
RefSeq - XM_011243369
RefSeq Peptide - NP_032106
RefSeq Peptide - NP_082015
swissprot - Q09200
swissprot - Q3UN35
swissprot - A0A1W2P6F0
Ensembl - ENSMUSG00000006731
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 b4galnt1aENSDARG00000061520Danio rerio
 b4galnt1bENSDARG00000077352Danio rerio
 Q00973ENSG00000135454Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q09199 / B4galnt2 / Beta-1,4 N-acetylgalactosaminyltransferase 2 / Q8NHY0* / beta-1,4-N-acetyl-galactosaminyltransferase 2*ENSMUSG0000001341838


Protein motifs (from Interpro)
Interpro ID Name
 IPR001173  Glycosyltransferase 2-like
 IPR011143  Ganglioside GM2 synthase
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001574 ganglioside biosynthetic process IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0006687 glycosphingolipid metabolic process IMP
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0019915 lipid storage IGI
 biological_processGO:0030259 lipid glycosylation IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030173 integral component of Golgi membrane IEA
 molecular_functionGO:0003947 (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity ISO
 molecular_functionGO:0008376 acetylgalactosaminyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0016758 transferase activity, transferring hexosyl groups IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Lhcgrtm1Zmlei/Lhcgrtm1Zmlei
Genetic Background: either: 129X1/SvJ-Lhcgrtm1Zmlei or (involves: 129X1/SvJ * C57BL/6)

Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Otcspf-ash/Otc+
Genetic Background: involves: C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Allelic Composition: B4galnt1tm1Rlp/B4galnt1+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001496 audiogenic seizures "a reflex seizure triggered by loud noises" [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: Otcspf-ash/Otc+
Genetic Background: involves: C57BL/6

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1+,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Lhcgrtm1Zmlei/Lhcgrtm1Zmlei
Genetic Background: either: 129X1/SvJ-Lhcgrtm1Zmlei or (involves: 129X1/SvJ * C57BL/6)

Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,St8sia1tm1Rlp/St8sia1tm1Rlp
Genetic Background: involves: 129S6/SvEvTac

 MP:0001951 abnormal breathing "irregular or atypical breathing pattern " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,St8sia1tm1Rlp/St8sia1tm1Rlp
Genetic Background: involves: 129S6/SvEvTac

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf-ash/Otc+
Genetic Background: involves: C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf-ash/Otc+
Genetic Background: involves: C57BL/6

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Lhcgrtm1Zmlei/Lhcgrtm1Zmlei
Genetic Background: either: 129X1/SvJ-Lhcgrtm1Zmlei or (involves: 129X1/SvJ * C57BL/6)

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,St8sia1tm1Rlp/St8sia1tm1Rlp
Genetic Background: involves: 129S6/SvEvTac

 MP:0009640 abnormal renal tubule epithelium morphology "any structural anomaly of the cellular avascular layer of the renal tubule luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: B4galnt1tm1Rlp/B4galnt1tm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006731 Q09200 / B4galnt1 / Beta-1,4 N-acetylgalactosaminyltransferase 1 / Q00973* / beta-1,4-N-acetyl-galactosaminyltransferase 1*  / complex






 

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