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Gene: BBOX1 (gamma-butyrobetaine hydroxylase 1) Homo sapiens
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Symbol: BBOX1
Name: gamma-butyrobetaine hydroxylase 1
Description: Exhibits gamma-butyrobetaine dioxygenase activity; identical protein binding activity; and zinc ion binding activity. Involved in carnitine biosynthetic process. Localizes to the extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBH; BBOX; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1; G-BBH; gamma-BBH; gamma-butyrobetaine dioxygenase; gamma-butyrobetaine hydroxylase; gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
Orthologs:
Mus musculus (house mouse) : Bbox1 (butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbox1 (gamma-butyrobetaine hydroxylase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbox1 (gamma-butyrobetaine hydroxylase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Canis lupus familiaris (dog) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbox1 (gamma-butyrobetaine hydroxylase 1)
Sus scrofa (pig) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381127,040,705 - 27,127,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371127,062,252 - 27,149,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361127,019,085 - 27,105,930 (+)NCBINCBI36hg18NCBI36
Build 341127,019,573 - 27,105,930NCBI
Celera1127,207,166 - 27,294,016 (+)NCBI
Cytogenetic Map11p14.2NCBI
HuRef1126,759,908 - 26,847,062 (+)NCBIHuRef
CHM1_11127,061,931 - 27,148,767 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BBOX1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732171
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.