ENSMUSG00000041660


Mus musculus

Features
Gene ID: ENSMUSG00000041660
  
Biological name :Bbox1
  
Synonyms : Bbox1 / Gamma-butyrobetaine dioxygenase / Q924Y0
  
Possible biological names infered from orthology : gamma-butyrobetaine hydroxylase 1 / O75936
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: E3
Gene start: 110262697
Gene end: 110314560
  
Corresponding Affymetrix probe sets: 10485700 (MoGene1.0st)   1419618_at (Mouse Genome 430 2.0 Array)   1459030_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000046302
Ensembl peptide - ENSMUSP00000116663
NCBI entrez gene - 170442     See in Manteia.
MGI - MGI:1891372
RefSeq - XM_006498823
RefSeq - NM_130452
RefSeq - XM_006498822
RefSeq Peptide - NP_569719
swissprot - Q924Y0
swissprot - A2AGK3
Ensembl - ENSMUSG00000041660
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbox1ENSDARG00000036135Danio rerio
 BBOX1ENSGALG00000013297Gallus gallus
 BBOX1ENSG00000129151Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003819  TauD/TfdA-like domain
 IPR010376  Gamma-butyrobetaine hydroxylase-like, N-terminal
 IPR012775  Gamma-butyrobetaine hydroxylase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0045329 carnitine biosynthetic process ISS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0008336 gamma-butyrobetaine dioxygenase activity ISO
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Carnitine synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0000841 abnormal hindbrain morphology "malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0000897 abnormal midbrain "malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

 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: Barx2tm1b(EUCOMM)Hmgu/Barx2tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Barx2tm1b(EUCOMM)Hmgu/H

 MP:0011275 abnormal behavioral response to light "unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light" [GO:0009416, MGI:llw2]
Show

Allelic Composition: Aspatm1b(EUCOMM)Wtsi/Aspatm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Aspatm1b(EUCOMM)Wtsi/Ieg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000041660 Bbox1 / Q924Y0 / Gamma-butyrobetaine dioxygenase / O75936* / gamma-butyrobetaine hydroxylase 1*  / complex






 

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