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mutLBSgeneDB |
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| Gene summary for BBOX1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BBOX1 |
| Gene name | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 | |
| Synonyms | BBH|BBOX|G-BBH|gamma-BBH | |
| Cytomap | UCSC genome browser: 11p14.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003986.2, | |
| Description | gamma-butyrobetaine dioxygenasegamma-butyrobetaine hydroxylasegamma-butyrobetaine,2-oxoglutarate dioxygenase 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603312 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000129151 | ||
| HPRD : 04498 | ||
| Vega : OTTHUMG00000166121 | ||
| Protein | UniProt: O75936 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BBOX1 | |
| BioGPS: 8424 | ||
| Pathway | NCI Pathway Interaction Database: BBOX1 | |
| KEGG: BBOX1 | ||
| REACTOME: BBOX1 | ||
| Pathway Commons: BBOX1 | ||
| Context | iHOP: BBOX1 | |
| ligand binding site mutation search in PubMed: BBOX1 | ||
| UCL Cancer Institute: BBOX1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0045329 | carnitine biosynthetic process | 20599753 |
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| Ligand binding site mutations for BBOX1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y177 | F176V | COAD | 2 | H82 | E81K | LUAD | 1 | Y83 | E85K | LUAD | 1 | R349 | R349Q | LUSC | 1 | I68 | G66S | SKCM | 1 | R349 | R350G | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for BBOX1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R349 | R349Q | -1.1763226 | Y177 | F176V | -1.1567025 | H82 | E81K | -1.0815076 | Y83 | E85K | -0.78319638 | I68 | G66S | -0.73115727 | R349 | R350G | -0.66813015 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for BBOX1 from PDB |
| PDB ID | PDB title | PDB structure | 3O2G | Crystal Structure of Human gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 (BBOX1) |  |
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| Differential gene expression and gene-gene network for BBOX1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for BBOX1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BBOX1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00126 | Vitamin C | Small molecule |  |
| Approved|nutraceutical | DB00139 | Succinic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BBOX1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3ms5 | A | H82 | ZN | ZINC(2+) | 3n6w | A | H82 | ZN | ZINC(2+) | 3o2g | A | H82 | ZN | ZINC(2+) | 4bg1 | A | H82 | ZN | ZINC(2+) | 4bgk | A | H82 | ZN | ZINC(2+) | 4bgm | A | H82 | ZN | ZINC(2+) | 4bhf | A | H82 | ZN | ZINC(2+) | 4bhi | A | H82 | ZN | ZINC(2+) | 4c5w | A | H82 | ZN | ZINC(2+) | 4bhg | A | H82 | ZN | ZINC(2+) | 4c8r | A | H82 | ZN | ZINC(2+) | 4c8r | B | H82 | ZN | ZINC(2+) | 4c8r | C | H82 | ZN | ZINC(2+) | 4c8r | D | H82 | ZN | ZINC(2+) | 4c8r | E | H82 | ZN | ZINC(2+) | 4c8r | F | H82 | ZN | ZINC(2+) | 4cwd | A | H82 | 16D | HEXANE-1,6-DIAMINE | 4c5w | A | I68 Y83 | 16D | HEXANE-1,6-DIAMINE | 4bhg | A | I68 Y83 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | A | R349 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | B | R349 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | C | R349 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | E | R349 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | F | R349 | REE | 2-(2-CARBOXYETHYL)-1,1,1-TRIMETHYLDIAZANIUM | 3ms5 | A | Y177 | NM2 | 4-(TRIMETHYLAMMONIO)BUTANOIC ACID | 3o2g | A | Y177 | IVL | 1-(3-CARBOXYPROPYL)-1-METHYLPYRROLIDIN-1-IUM | 4bg1 | A | Y177 | RTK | TRIMETHYL(3-OXIDANYLPHOSPHONOYLPROPYL)AZANIUM | 4bgk | A | Y177 | DLT | 3-CARBOXY-N-(2-FLUOROETHYL)-N,N- DIMETHYLPROPAN-1-AMINIUM | 4bgm | A | Y177 | MZT | 4-(TRIMETHYLAMMONIO)PENTANOIC ACID | 4bhf | A | Y177 | RUJ | 3-(1,1,1,2-TETRAMETHYLHYDRAZIN-1-IUM-2-YL) PROPANOATE | 4bhi | A | Y177 | NM3 | ETHYL-DIMETHYL-(4-OXIDANYL-4-OXIDANYLIDENE- BUTYL)AZANIUM | 4c5w | A | Y177 | C2T | 3-(1-ETHYL-1,1-DIMETHYLHYDRAZIN-1-IUM-2-YL) PROPANOIC ACID | 4bhg | A | Y177 | 6YT | N-(3-HYDROXYPICOLINOYL)-S-(PYRIDIN-2- YLMETHYL)-L-CYSTEINE | 4c8r | D | Y177 | 449 | 4-CARBOXY-1,1-DIMETHYLPIPERIDIN-1-IUM | 4cwd | A | Y177 | 16D | HEXANE-1,6-DIAMINE | 4bg1 | A | Y83 | 16D | HEXANE-1,6-DIAMINE | 4bgk | A | Y83 | 16D | HEXANE-1,6-DIAMINE | 4bgm | A | Y83 | 16D | HEXANE-1,6-DIAMINE | 4bhf | A | Y83 | 16D | HEXANE-1,6-DIAMINE | 4bhi | A | Y83 |
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| Conservation information for LBS of BBOX1 |
| Multiple alignments for O75936 in multiple species |
| LBS | AA sequence | # species | Species | A193 | DANNVAYTT-G | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A193 | DASNMAYASNG | 1 | Caenorhabditis elegans | C3 | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus | C38 | WLRDNCQCSDC | 2 | Mus musculus, Rattus norvegicus | C38 | WLRDNCPCSDC | 1 | Homo sapiens | C38 | WLRDTSPDPST | 1 | Caenorhabditis elegans | C40 | RDNCQCSDCYL | 2 | Mus musculus, Rattus norvegicus | C40 | RDNCPCSDCYL | 1 | Homo sapiens | C40 | RDTSPDPSTYT | 1 | Caenorhabditis elegans | C43 | CQCSDCYLHSA | 2 | Mus musculus, Rattus norvegicus | C43 | CPCSDCYLDSA | 1 | Homo sapiens | C43 | SPDPSTYTISP | 1 | Caenorhabditis elegans | D204 | LSFHTDYPALH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D204 | LPFHTDFPSLS | 1 | Caenorhabditis elegans | D89 | SEFEANWLKKR | 2 | Mus musculus, Rattus norvegicus | D89 | SEFQADWLKKR | 1 | Homo sapiens | D89 | SEFPSEWLKIR | 1 | Caenorhabditis elegans | F340 | GDVITFDNWRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F340 | GDTVLWANQRL | 1 | Caenorhabditis elegans | G348 | WRLLHGRRSYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G348 | QRLLHTRDGFR | 1 | Caenorhabditis elegans | H202 | GKLSFHTDYPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H202 | GGLPFHTDFPS | 1 | Caenorhabditis elegans | H347 | NWRLLHGRRSY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H347 | NQRLLHTRDGF | 1 | Caenorhabditis elegans | H82 | TWPDEHYSEFQ | 1 | Homo sapiens | H82 | EWESGVLSEFP | 1 | Caenorhabditis elegans | H82 | TWPNDHYSEFE | 1 | Mus musculus | H82 | TWPNGHYSEFE | 1 | Rattus norvegicus | I68 | GIKGLIFDRKK | 1 | Homo sapiens | I68 | NARKLWIDEDA | 1 | Caenorhabditis elegans | I68 | RIDDLTFDRKK | 1 | Mus musculus | I68 | RMDDLTFDQKK | 1 | Rattus norvegicus | K72 | LIFDRKK--VY | 1 | Homo sapiens | K72 | LWIDEDANCLK | 1 | Caenorhabditis elegans | K72 | LTFDRKK--VY | 1 | Mus musculus | K72 | LTFDQKK--VY | 1 | Rattus norvegicus | L199 | TT-GKLSFHTD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L199 | ASNGGLPFHTD | 1 | Caenorhabditis elegans | L217 | PGVQLLHCIKQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L217 | PQLQMLHMLQS | 1 | Caenorhabditis elegans | N191 | KIDANNVAYTT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N191 | KADASNMAYAS | 1 | Caenorhabditis elegans | N292 | VRINFNNATRD | 2 | Homo sapiens, Rattus norvegicus | N292 | NKIQFGNAMRS | 1 | Caenorhabditis elegans | N292 | VRVNFNNATRD | 1 | Mus musculus | P206 | FHTDYPALHHP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P206 | FHTDFPSLSHP | 1 | Caenorhabditis elegans | R349 | RLLHGRRSYEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R349 | RLLHTRDGFRN | 1 | Caenorhabditis elegans | R360 | GTEISRHLEGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R360 | APEKARTLTGC | 1 | Caenorhabditis elegans | S229 | VTGGDSEIVDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S229 | EEGGHSLFVDG | 1 | Caenorhabditis elegans | T295 | NFNNATRDTVF | 2 | Mus musculus, Rattus norvegicus | T295 | NFNNATRDTIF | 1 | Homo sapiens | T295 | QFGNAMRSWFY | 1 | Caenorhabditis elegans | V183 | GHTWQVQDKID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V183 | GLVFEVSLKAD | 1 | Caenorhabditis elegans | W181 | FYGHTWQVQDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W181 | HFGLVFEVSLK | 1 | Caenorhabditis elegans | Y177 | LYLTFYGHTWQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y177 | IKRTHFGLVFE | 1 | Caenorhabditis elegans | Y194 | ANNVAYTT-GK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y194 | ASNMAYASNGG | 1 | Caenorhabditis elegans | Y205 | SFHTDYPALHH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y205 | PFHTDFPSLSH | 1 | Caenorhabditis elegans | Y366 | HLEGAYADWDV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y366 | TLTGCYFDWDI | 1 | Caenorhabditis elegans | Y75 | KK--VYITWPN | 2 | Mus musculus, Rattus norvegicus | Y75 | KK--VYITWPD | 1 | Homo sapiens | Y75 | DANCLKIEWES | 1 | Caenorhabditis elegans | Y83 | WPDEHYSEFQA | 1 | Homo sapiens | Y83 | WESGVLSEFPS | 1 | Caenorhabditis elegans | Y83 | WPNDHYSEFEA | 1 | Mus musculus | Y83 | WPNGHYSEFEA | 1 | Rattus norvegicus |
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