BBOX1 (gamma-butyrobetaine hydroxylase 1) - Rat Genome Database

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Gene: BBOX1 (gamma-butyrobetaine hydroxylase 1) Homo sapiens
Analyze
Symbol: BBOX1
Name: gamma-butyrobetaine hydroxylase 1
RGD ID: 732171
HGNC Page HGNC
Description: Enables gamma-butyrobetaine dioxygenase activity; identical protein binding activity; and zinc ion binding activity. Involved in carnitine biosynthetic process. Located in 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
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1127,040,725 - 27,127,809 (+)EnsemblGRCh38hg38GRCh38
GRCh381127,040,705 - 27,127,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371127,062,362 - 27,149,356 (+)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     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-carnitine  (EXP)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(trimethylammonio)butanoate  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
cisplatin  (EXP)
coumarin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-mannitol  (ISO)
doxorubicin  (EXP)
endosulfan  (EXP)
flutamide  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
isoniazide  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
metacetamol  (ISO)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium bromate  (EXP)
potassium dichromate  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
succimer  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
tolcapone  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1735445   PMID:1962562   PMID:3110383   PMID:3378057   PMID:6497835   PMID:7156861   PMID:9753662   PMID:10526231   PMID:12477932   PMID:15489334   PMID:16169070   PMID:16344560  
PMID:17110165   PMID:18029348   PMID:19056867   PMID:19240061   PMID:20379614   PMID:20599753   PMID:20877624   PMID:21873635   PMID:23376485   PMID:25416956   PMID:26186194   PMID:27107014  
PMID:28514442   PMID:29065368   PMID:30819181   PMID:32296183   PMID:32515533  


Genomics

Comparative Map Data
BBOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1127,040,725 - 27,127,809 (+)EnsemblGRCh38hg38GRCh38
GRCh381127,040,705 - 27,127,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371127,062,362 - 27,149,356 (+)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
Bbox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392110,094,401 - 110,145,158 (-)NCBIGRCm39mm39
GRCm39 Ensembl2110,093,042 - 110,144,905 (-)Ensembl
GRCm382110,264,056 - 110,314,813 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2110,262,697 - 110,314,560 (-)EnsemblGRCm38mm10GRCm38
MGSCv372110,105,240 - 110,145,882 (-)NCBIGRCm37mm9NCBIm37
MGSCv362110,065,922 - 110,106,564 (-)NCBImm8
Celera2111,425,130 - 111,465,702 (-)NCBICelera
Cytogenetic Map2E3NCBI
Bbox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2396,822,654 - 96,871,786 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl396,822,655 - 96,871,458 (-)Ensembl
Rnor_6.03101,425,684 - 101,474,848 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3101,427,055 - 101,474,890 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03108,023,621 - 108,070,883 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4395,747,735 - 95,786,852 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1395,644,162 - 95,683,280 (-)NCBI
Celera395,835,564 - 95,874,303 (-)NCBICelera
Cytogenetic Map3q34NCBI
Bbox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554766,368,842 - 6,433,797 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554766,368,842 - 6,433,797 (+)NCBIChiLan1.0ChiLan1.0
BBOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11126,898,529 - 26,986,705 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1126,898,529 - 26,986,705 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01126,995,120 - 27,083,832 (+)NCBIMhudiblu_PPA_v0panPan3
BBOX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12147,707,648 - 47,766,732 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2147,706,717 - 47,766,503 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2147,198,477 - 47,257,514 (+)NCBI
ROS_Cfam_1.02148,848,545 - 48,906,661 (+)NCBI
UMICH_Zoey_3.12147,834,272 - 47,892,256 (+)NCBI
UNSW_CanFamBas_1.02148,002,172 - 48,061,307 (+)NCBI
UU_Cfam_GSD_1.02148,588,367 - 48,647,500 (+)NCBI
Bbox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494736,893,678 - 36,958,956 (-)NCBI
SpeTri2.0NW_0049365406,048,481 - 6,113,627 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl233,227,974 - 33,296,559 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1233,227,965 - 33,296,013 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2235,864,213 - 35,883,328 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BBOX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1137,970,238 - 38,063,854 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl137,967,283 - 38,062,244 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038135,283,933 - 135,376,803 (-)NCBIVero_WHO_p1.0
Bbox1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476616,903,327 - 16,962,176 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH79794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,148,961 - 27,149,208UniSTSGRCh37
Build 361127,105,537 - 27,105,784RGDNCBI36
Celera1127,293,623 - 27,293,870RGD
Cytogenetic Map11p14.2UniSTS
HuRef1126,846,669 - 26,846,916UniSTS
RH103034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,149,054 - 27,149,237UniSTSGRCh37
Build 361127,105,630 - 27,105,813RGDNCBI36
Celera1127,293,716 - 27,293,899RGD
Cytogenetic Map11p14.2UniSTS
HuRef1126,846,762 - 26,846,945UniSTS
GeneMap99-GB4 RH Map11102.17UniSTS
D11S2804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,079,437 - 27,079,601UniSTSGRCh37
Build 361127,036,013 - 27,036,177RGDNCBI36
Celera1127,224,097 - 27,224,261RGD
Cytogenetic Map11p14.2UniSTS
D11S4058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,149,066 - 27,149,194UniSTSGRCh37
Build 361127,105,642 - 27,105,770RGDNCBI36
Celera1127,293,728 - 27,293,856RGD
Cytogenetic Map11p14.2UniSTS
SHGC-102216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,125,627 - 27,125,921UniSTSGRCh37
Build 361127,082,203 - 27,082,497RGDNCBI36
Celera1127,270,289 - 27,270,583RGD
Cytogenetic Map11p14.2UniSTS
HuRef1126,823,335 - 26,823,629UniSTS
TNG Radiation Hybrid Map1113307.0UniSTS
WI-18141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,104,072 - 27,104,208UniSTSGRCh37
Build 361127,060,648 - 27,060,784RGDNCBI36
Celera1127,248,729 - 27,248,865RGD
Cytogenetic Map11p14.2UniSTS
HuRef1126,801,439 - 26,801,575UniSTS
GeneMap99-GB4 RH Map1195.23UniSTS
Whitehead-RH Map1196.9UniSTS
A006G34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,149,115 - 27,149,273UniSTSGRCh37
Build 361127,105,691 - 27,105,849RGDNCBI36
Celera1127,293,777 - 27,293,935RGD
Cytogenetic Map11p14.2UniSTS
HuRef1126,846,823 - 26,846,981UniSTS
GeneMap99-GB4 RH Map1195.23UniSTS
G32349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371127,149,115 - 27,149,273UniSTSGRCh37
Celera1127,293,777 - 27,293,935UniSTS
Cytogenetic Map11p14.2UniSTS
HuRef1126,846,823 - 26,846,981UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:689
Count of miRNA genes:363
Interacting mature miRNAs:382
Transcripts:ENST00000263182, ENST00000525090, ENST00000527505, ENST00000528583, ENST00000529202, ENST00000531832, ENST00000533566, ENST00000534323
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 4
Medium 2 1 734 257 2 219 1298 5 1625 251 167 418 39 1 692
Low 110 418 661 300 42 195 923 196 1824 59 366 495 110 134 800 3
Below cutoff 1942 1944 242 50 879 33 1821 1632 203 62 749 535 21 957 1165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001376258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA268467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263182   ⟹   ENSP00000263182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,040,815 - 27,127,809 (+)Ensembl
RefSeq Acc Id: ENST00000525090   ⟹   ENSP00000433772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,055,217 - 27,127,671 (+)Ensembl
RefSeq Acc Id: ENST00000527505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,055,386 - 27,119,781 (+)Ensembl
RefSeq Acc Id: ENST00000528583   ⟹   ENSP00000434918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,041,313 - 27,127,809 (+)Ensembl
RefSeq Acc Id: ENST00000529202   ⟹   ENSP00000435781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,040,725 - 27,127,675 (+)Ensembl
RefSeq Acc Id: ENST00000531832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,040,871 - 27,046,286 (+)Ensembl
RefSeq Acc Id: ENST00000533566   ⟹   ENSP00000435369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,040,833 - 27,055,636 (+)Ensembl
RefSeq Acc Id: ENST00000534323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1127,055,426 - 27,057,433 (+)Ensembl
RefSeq Acc Id: NM_001376258   ⟹   NP_001363187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,040,815 - 27,127,809 (+)NCBI
RefSeq Acc Id: NM_001376259   ⟹   NP_001363188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,040,815 - 27,127,809 (+)NCBI
RefSeq Acc Id: NM_001376260   ⟹   NP_001363189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,040,815 - 27,127,809 (+)NCBI
RefSeq Acc Id: NM_001376261   ⟹   NP_001363190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,041,800 - 27,127,809 (+)NCBI
RefSeq Acc Id: NM_003986   ⟹   NP_003977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,040,815 - 27,127,809 (+)NCBI
GRCh371127,062,252 - 27,149,354 (+)NCBI
Build 361127,019,085 - 27,105,930 (+)NCBI Archive
HuRef1126,759,908 - 26,847,062 (+)ENTREZGENE
CHM1_11127,061,931 - 27,148,767 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520402   ⟹   XP_011518704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,040,705 - 27,127,678 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003977   ⟸   NM_003986
- UniProtKB: O75936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518704   ⟸   XM_011520402
- Peptide Label: isoform X1
- UniProtKB: O75936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363189   ⟸   NM_001376260
RefSeq Acc Id: NP_001363187   ⟸   NM_001376258
RefSeq Acc Id: NP_001363188   ⟸   NM_001376259
RefSeq Acc Id: NP_001363190   ⟸   NM_001376261
RefSeq Acc Id: ENSP00000435369   ⟸   ENST00000533566
RefSeq Acc Id: ENSP00000433772   ⟸   ENST00000525090
RefSeq Acc Id: ENSP00000263182   ⟸   ENST00000263182
RefSeq Acc Id: ENSP00000434918   ⟸   ENST00000528583
RefSeq Acc Id: ENSP00000435781   ⟸   ENST00000529202
Protein Domains
DUF971

Promoters
RGD ID:7219887
Promoter ID:EPDNEW_H15689
Type:initiation region
Name:BBOX1_1
Description:gamma-butyrobetaine hydroxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15690  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,041,401 - 27,041,461EPDNEW
RGD ID:7219889
Promoter ID:EPDNEW_H15690
Type:initiation region
Name:BBOX1_2
Description:gamma-butyrobetaine hydroxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381127,055,381 - 27,055,441EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13
pathogenic
GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3 copy number gain See cases [RCV000134877] Chr11:24595399..31096539 [GRCh38]
Chr11:24616945..31118086 [GRCh37]
Chr11:24573521..31074662 [NCBI36]
Chr11:11p14.3-13
pathogenic
GRCh38/hg38 11p14.2-14.1(chr11:26984514-27203827)x1 copy number loss See cases [RCV000135787] Chr11:26984514..27203827 [GRCh38]
Chr11:27006061..27225374 [GRCh37]
Chr11:26962637..27181950 [NCBI36]
Chr11:11p14.2-14.1
uncertain significance
GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1 copy number loss See cases [RCV000137723] Chr11:23024064..27978597 [GRCh38]
Chr11:23045610..28000144 [GRCh37]
Chr11:23002186..27956720 [NCBI36]
Chr11:11p14.3-14.1
likely pathogenic
GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1 copy number loss See cases [RCV000138880] Chr11:26555328..27307056 [GRCh38]
Chr11:26576875..27328603 [GRCh37]
Chr11:26533451..27285179 [NCBI36]
Chr11:11p14.2-14.1
uncertain significance
GRCh38/hg38 11p14.2(chr11:26984514-27161130)x3 copy number gain See cases [RCV000141270] Chr11:26984514..27161130 [GRCh38]
Chr11:27006061..27182677 [GRCh37]
Chr11:26962637..27139253 [NCBI36]
Chr11:11p14.2
uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26992679-27238090)x1 copy number loss See cases [RCV000510807] Chr11:26992679..27238090 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3 copy number gain not provided [RCV000683363] Chr11:25090108..28909131 [GRCh37]
Chr11:11p14.3-14.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12
pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1 copy number loss not provided [RCV000737466] Chr11:25196998..34196484 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26994375-27249688)x1 copy number loss not provided [RCV000749994] Chr11:26994375..27249688 [GRCh37]
Chr11:11p14.2-14.1
likely benign
GRCh37/hg19 11p14.2-14.1(chr11:26995119-27240951)x1 copy number loss not provided [RCV000749995] Chr11:26995119..27240951 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
GRCh37/hg19 11p14.2(chr11:27018019-27076070)x3 copy number gain not provided [RCV000749996] Chr11:27018019..27076070 [GRCh37]
Chr11:11p14.2
benign
NM_003986.3(BBOX1):c.930T>C (p.Phe310=) single nucleotide variant not provided [RCV000959171] Chr11:27125747 [GRCh38]
Chr11:27147294 [GRCh37]
Chr11:11p14.2
benign
GRCh37/hg19 11p14.2-14.1(chr11:26992685-27238107)x1 copy number loss not provided [RCV000849499] Chr11:26992685..27238107 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
NM_003986.3(BBOX1):c.621C>T (p.Ala207=) single nucleotide variant not provided [RCV000962133] Chr11:27115539 [GRCh38]
Chr11:27137086 [GRCh37]
Chr11:11p14.2
benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3 copy number gain not provided [RCV000846295] Chr11:26975017..27238107 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1 copy number loss not provided [RCV000849939] Chr11:26975017..27238107 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3 copy number gain not provided [RCV000849079] Chr11:26975017..27238107 [GRCh37]
Chr11:11p14.2-14.1
uncertain significance
NM_003986.3(BBOX1):c.399T>C (p.Tyr133=) single nucleotide variant not provided [RCV000911306] Chr11:27093232 [GRCh38]
Chr11:27114779 [GRCh37]
Chr11:11p14.2
benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:964 AgrOrtholog
COSMIC BBOX1 COSMIC
Ensembl Genes ENSG00000129151 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263182 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433772 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434918 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435369 UniProtKB/TrEMBL
  ENSP00000435781 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263182 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528583 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529202 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533566 UniProtKB/TrEMBL
Gene3D-CATH 3.30.2020.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.130.10 UniProtKB/Swiss-Prot
GTEx ENSG00000129151 GTEx
HGNC ID HGNC:964 ENTREZGENE
Human Proteome Map BBOX1 Human Proteome Map
InterPro GBBH UniProtKB/Swiss-Prot
  GBBH-like_N UniProtKB/TrEMBL
  GBBH-like_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GBH-like_N UniProtKB/Swiss-Prot
  TauD-like_sf UniProtKB/Swiss-Prot
  TauD/TfdA-like UniProtKB/Swiss-Prot
KEGG Report hsa:8424 UniProtKB/Swiss-Prot
NCBI Gene 8424 ENTREZGENE
OMIM 603312 OMIM
Pfam DUF971 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TauD UniProtKB/Swiss-Prot
PharmGKB PA25274 PharmGKB
TIGRFAMs carnitine_bodg UniProtKB/Swiss-Prot
UniProt BODG_HUMAN UniProtKB/Swiss-Prot
  E9PKC9_HUMAN UniProtKB/TrEMBL
  O75936 ENTREZGENE
  Q1KLS6_HUMAN UniProtKB/TrEMBL
  Q1KLT3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R8L7 UniProtKB/Swiss-Prot
  D3DQZ1 UniProtKB/Swiss-Prot
  Q6IBJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 BBOX1  gamma-butyrobetaine hydroxylase 1    butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 BBOX1  butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1  BBOX1  butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1  Symbol and/or name change 5135510 APPROVED