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Bbox1 Gene Detail
Summary
  • Symbol
    Bbox1
  • Name
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891372
    NCBI Gene: 170442
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:110264056-110314816 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 56.70 cM, cytoband E3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    301 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891372
protein coding gene Chr2:110262697-110314816 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026244
protein coding gene Chr2:112611623-112664638 (-)
A/J MGP_AJ_G0026205
protein coding gene Chr2:107906883-107969387 (-)
AKR/J MGP_AKRJ_G0026185
protein coding gene Chr2:110946190-111003998 (-)
BALB/cJ MGP_BALBcJ_G0026214
protein coding gene Chr2:108192059-108243810 (-)
C3H/HeJ MGP_C3HHeJ_G0025964
protein coding gene Chr2:111216598-111281378 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026666
protein coding gene Chr2:116282610-116339521 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024051
protein coding gene Chr2:103436720-103490143 (-)
CAST/EiJ MGP_CASTEiJ_G0025429
protein coding gene Chr2:111722128-111779174 (-)
CBA/J MGP_CBAJ_G0025942
protein coding gene Chr2:120285605-120338416 (-)
DBA/2J MGP_DBA2J_G0026080
protein coding gene Chr2:107423151-107475178 (-)
FVB/NJ MGP_FVBNJ_G0026043
protein coding gene Chr2:106313699-106368206 (-)
LP/J MGP_LPJ_G0026183
protein coding gene Chr2:112807458-112862258 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026067
protein coding gene Chr2:124430378-124491362 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026719
protein coding gene Chr2:111081708-111147237 (-)
PWK/PhJ MGP_PWKPhJ_G0025164
protein coding gene Chr2:107030929-107085613 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024964
protein coding gene Chr2:110335429-110392890 (-)
WSB/EiJ MGP_WSBEiJ_G0025496
protein coding gene Chr2:111849072-111910801 (-)



Homology
more
  • Human Ortholog
    BBOX1, gamma-butyrobetaine hydroxylase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BBOX1, gamma-butyrobetaine hydroxylase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBH, BBOX, gamma-BBH, G-BBH
  • Links
    NCBI Gene ID: 8424
    neXtProt AC: NX_O75936
    UniProt: O75936

  • Chr Location
    11p14.2; chr11:27040705-27127807 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 3 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170442 NCBI Gene Model | MGI Sequence Detail 50761 C57BL/6J ±  kb
    transcript NM_130452 RefSeq | MGI Sequence Detail 1642 FVB/N  
    polypeptide Q924Y0 UniProt | EBI | MGI Sequence Detail 387 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 22

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139107
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 12
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory