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Bbox1 Gene Detail
Summary
  • Symbol
    Bbox1
  • Name
    gamma-butyrobetaine hydroxylase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891372
    NCBI Gene: 170442
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:110094401-110145158 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 56.70 cM, cytoband E3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1405 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 Chr2:110093042-110145158 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBOX1, gamma-butyrobetaine hydroxylase 1
  • Synonyms
    BBH, BBOX, gamma-BBH, G-BBH
  • Links
    NCBI Gene ID: 8424
    neXtProt AC: NX_O75936
    UniProt: O75936

  • Chr Location
    11p14.2; chr11:27040725-27127809 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 4 genetic backgrounds
    17 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    955
  • Tissues
    143
  • cDNA Data
    23
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 170442 NCBI Gene Model | MGI Sequence Detail 50758 C57BL/6J ±  kb
    transcript NM_001413162 RefSeq | MGI Sequence Detail 2967 C57BL/6  
    polypeptide Q924Y0 UniProt | EBI | MGI Sequence Detail 387 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 23
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139107
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 4
      Gene Ontology 12
      Phenotypes 17
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory