◎ Sugi Atlas

Atlas / Gene / BBOX1

BBOX1

gene
On this page

Also known as gamma-BBHG-BBHBBH

Summary

BBOX1 (gamma-butyrobetaine hydroxylase 1, HGNC:964) is a protein-coding gene on chromosome 11p14.2, encoding Gamma-butyrobetaine dioxygenase (O75936). Catalyzes the formation of L-carnitine from gamma-butyrobetaine.

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation.

Source: NCBI Gene 8424 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 77 total
  • Druggable target: yes — 8 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_003986

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:964
Approved symbolBBOX1
Namegamma-butyrobetaine hydroxylase 1
Location11p14.2
Locus typegene with protein product
StatusApproved
Aliasesgamma-BBH, G-BBH, BBH
Ensembl geneENSG00000129151
Ensembl biotypeprotein_coding
OMIM603312
Entrez8424

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000263182, ENST00000525090, ENST00000527505, ENST00000528583, ENST00000529202, ENST00000531832, ENST00000533566, ENST00000534323, ENST00000894892, ENST00000894893, ENST00000894894, ENST00000894895, ENST00000894896, ENST00000894897, ENST00000894898, ENST00000894899, ENST00000894900, ENST00000894901, ENST00000894902, ENST00000948706

RefSeq mRNA: 5 — MANE Select: NM_003986 NM_001376258, NM_001376259, NM_001376260, NM_001376261, NM_003986

CCDS: CCDS7862

Canonical transcript exons

ENST00000263182 — 9 exons

ExonStartEnd
ENSE000014031692704121627041478
ENSE000015235242704081527041028
ENSE000034998252711545227115557
ENSE000035452032705720127057315
ENSE000038916402709316827093366
ENSE000038922772705539327055649
ENSE000038934632711964927119845
ENSE000038953282712565427125820
ENSE000038959802712729327127809

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 97.76.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1428 / max 423.8393, expressed in 204 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter IDTPM avgSamples expressed
1135420.419693
1135450.411545
1135460.374835
1135350.326191
1135410.232483
1135390.070020
1135360.054416
1135380.053421
1135490.052110
1135440.042221

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
adult mammalian kidneyUBERON:000008297.76gold quality
nephron tubuleUBERON:000123197.15gold quality
kidney epitheliumUBERON:000481997.10gold quality
adult organismUBERON:000702396.79gold quality
renal glomerulusUBERON:000007496.34gold quality
gingival epitheliumUBERON:000194996.12gold quality
metanephric glomerulusUBERON:000473696.00gold quality
gingivaUBERON:000182895.68gold quality
upper leg skinUBERON:000426294.09gold quality
kidneyUBERON:000211393.55gold quality
renal medullaUBERON:000036293.18gold quality
skin of hipUBERON:000155493.14gold quality
lateral globus pallidusUBERON:000247693.09gold quality
upper arm skinUBERON:000426393.08gold quality
palpebral conjunctivaUBERON:000181292.34gold quality
hair follicleUBERON:000207392.16gold quality
skin of abdomenUBERON:000141691.21gold quality
zone of skinUBERON:000001490.74gold quality
medial globus pallidusUBERON:000247790.15gold quality
cortex of kidneyUBERON:000122590.12gold quality
skin of legUBERON:000151189.75gold quality
substantia nigraUBERON:000203889.56gold quality
globus pallidusUBERON:000187589.13gold quality
dorsal motor nucleus of vagus nerveUBERON:000287088.96gold quality
midbrainUBERON:000189188.70gold quality
superior vestibular nucleusUBERON:000722788.40gold quality
mammalian vulvaUBERON:000099788.18gold quality
penisUBERON:000098987.81gold quality
squamous epitheliumUBERON:000691487.68gold quality
amygdalaUBERON:000187687.48gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-HCAD-10yes29.77
E-ANND-3yes12.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting BBOX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548AW99.9972.573559
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-651-3P99.9473.485177
HSA-MIR-6753-3P99.9366.57637
HSA-MIR-7107-3P99.9366.73627
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-579-3P99.8671.663628
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-449599.8272.083080
HSA-MIR-205299.7969.372031
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548F-5P99.7871.023093
HSA-MIR-548G-5P99.7871.123085
HSA-MIR-548X-5P99.7871.123085
HSA-MIR-467999.7669.191229
HSA-MIR-187-5P99.7470.261404
HSA-MIR-471999.7372.103329
HSA-MIR-494-3P99.7071.452795
HSA-MIR-1212499.6869.172700
HSA-MIR-516B-5P99.5666.331495
HSA-MIR-510-3P99.5470.062965
HSA-MIR-4677-3P99.4967.911246
HSA-MIR-4666A-5P99.4169.721887
HSA-MIR-6853-3P99.3670.791558
HSA-MIR-4477B99.2370.491733
HSA-MIR-397399.2069.191990
HSA-MIR-455-5P98.7467.31795
HSA-MIR-1212098.0568.441768

Literature-anchored findings (GeneRIF, showing 6)

  • the use of 3 different promoters is responsible for the 5’-end heterogeneity (PMID:17110165)
  • the three-dimensional structure of recombinant human GBBH at 2.0A resolution was solved. (PMID:20599753)
  • BBOX 1 might be one of several genes that play a role in polygenic susceptibility to schizophrenia. (PMID:29065368)
  • urinary BBOX1 might serve as a promising biomarker of diabetic kidney disease. (PMID:30819181)
  • BBOX1 antisense RNA 1 facilitates CC progression by upregulating HOXC6 expression via miR-361-3p and HuR. (PMID:32515533)
  • Long non-coding RNA BBOX1-antisense RNA 1 enhances cell proliferation and migration and suppresses apoptosis in oral squamous cell carcinoma via the miR-3940-3p/laminin subunit gamma 2 axis. (PMID:35506252)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriobbox1ENSDARG00000036135
mus_musculusBbox1ENSMUSG00000041660
rattus_norvegicusBbox1ENSRNOG00000059519
drosophila_melanogasterCG14630FBGN0014903
drosophila_melanogasterCG5321FBGN0030575
drosophila_melanogasterCG10814FBGN0033830
caenorhabditis_elegansWBGENE00001522

Paralogs (1): TMLHE (ENSG00000185973)

Protein

Protein identifiers

Gamma-butyrobetaine dioxygenase — O75936 (reviewed: O75936)

Alternative names: Gamma-butyrobetaine hydroxylase, Gamma-butyrobetaine,2-oxoglutarate dioxygenase

All UniProt accessions (2): O75936, E9PKC9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of L-carnitine from gamma-butyrobetaine.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in kidney; moderately expressed in liver; very low expression in brain.

Cofactor. Binds 1 Fe(2+) ion per subunit.

Pathway. Amine and polyamine biosynthesis; carnitine biosynthesis.

Similarity. Belongs to the gamma-BBH/TMLD family.

RefSeq proteins (5): NP_001363187, NP_001363188, NP_001363189, NP_001363190, NP_003977* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003819TauD/TfdA-likeDomain
IPR010376GBBH-like_NDomain
IPR012775GBBH-likeFamily
IPR038492GBBH-like_N_sfHomologous_superfamily
IPR042098GlaH-like_sfHomologous_superfamily
IPR050411AlphaKG_dependent_hydroxylasesFamily

Pfam: PF02668, PF06155

Enzyme classification (BRENDA):

  • EC 1.14.11.1 — gamma-butyrobetaine dioxygenase (BRENDA: 7 organisms, 37 substrates, 152 inhibitors, 51 Km, 18 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
4-TRIMETHYLAMMONIOBUTANOATE0.0042–2.47419
2-OXOGLUTARATE0.018–0.8210
GAMMA-BUTYROBETAINE0.029–2.44
(2S)-3-CARBOXY-N-(FLUOROMETHYL)-2-HYDROXY-N,N-DI0.02–0.4122
(3R)-3-FLUORO-4-(TRIMETHYLAMMONIO)BUTANOATE0.02–0.6232
(3S)-3-FLUORO-4-(TRIMETHYLAMMONIO)BUTANOATE0.012–0.0832
(3-CARBOXYPROPYL)(TRIMETHYL)ARSANIUM1.371
(3-CARBOXYPROPYL)(TRIMETHYL)PHOSPHANIUM1.21
2-OXO-GLUTARATE0.1251
4-(TRIMETHYLAMMONIO)BUTANOIC ACID0.161
4-DIMETHYLAMINOBUTYRIC ACID0.041
D-CARNITINE0.471
FE2+0.0121
L-CARNITINE0.0521

Catalyzed reactions (Rhea), 1 shown:

  • 4-(trimethylamino)butanoate + 2-oxoglutarate + O2 = carnitine + succinate + CO2 (RHEA:24028)

UniProt features (51 total): strand 22, helix 13, binding site 7, turn 7, chain 1, modified residue 1

Structure

Experimental structures (PDB)

12 structures.

PDBMethodResolution (Å)
4C5WX-RAY DIFFRACTION1.7
3O2GX-RAY DIFFRACTION1.78
3MS5X-RAY DIFFRACTION1.82
4BHGX-RAY DIFFRACTION1.85
4BG1X-RAY DIFFRACTION1.89
4CWDX-RAY DIFFRACTION1.9
3N6WX-RAY DIFFRACTION2
4BHFX-RAY DIFFRACTION2.05
4BHIX-RAY DIFFRACTION2.15
4BGKX-RAY DIFFRACTION2.18
4BGMX-RAY DIFFRACTION2.4
4C8RX-RAY DIFFRACTION2.82

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O75936-F195.060.90

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 38; 40; 43; 82; 202; 204; 347

Post-translational modifications (1): 351

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-71262Carnitine synthesis
R-HSA-1430728Metabolism
R-HSA-71291Metabolism of amino acids and derivatives

MSigDB gene sets: 144 (showing top): MODULE_93, MYAATNNNNNNNGGC_UNKNOWN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, JAEGER_METASTASIS_DN, NKX25_02, YANG_BREAST_CANCER_ESR1_LASER_DN, MARTINEZ_RB1_TARGETS_DN, NF1_Q6_01, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, CAIRO_HEPATOBLASTOMA_DN, MODULE_99, KEGG_LYSINE_DEGRADATION, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, GOBP_AMINO_ACID_BETAINE_METABOLIC_PROCESS, MODULE_88

GO Biological Process (1): carnitine biosynthetic process (GO:0045329)

GO Molecular Function (8): iron ion binding (GO:0005506), zinc ion binding (GO:0008270), gamma-butyrobetaine dioxygenase activity (GO:0008336), identical protein binding (GO:0042802), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872), dioxygenase activity (GO:0051213)

GO Cellular Component (4): mitochondrion (GO:0005739), cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Metabolism of amino acids and derivatives1
Metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transition metal ion binding2
cytoplasm2
cellular anatomical structure2
amino-acid betaine biosynthetic process1
carnitine metabolic process1
2-oxoglutarate-dependent dioxygenase activity1
protein binding1
binding1
catalytic activity1
cation binding1
oxidoreductase activity1
intracellular membrane-bounded organelle1
extracellular vesicle1
intracellular anatomical structure1

Protein interactions and networks

STRING

1996 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
BBOX1TRAT1Q6PIZ9980
BBOX1TRIM17Q9Y577977
BBOX1BBXQ8WY36895
BBOX1GTF3C1Q12789882
BBOX1TRIM54Q9BYV2870
BBOX1TRIM39Q9HCM9870
BBOX1TRIM72Q6ZMU5866
BBOX1TRIM9Q9C026862
BBOX1TRIM27P14373857
BBOX1TRIM5Q9C035854
BBOX1PRYO14603853
BBOX1TRIM55Q9BYV6847
BBOX1TRIM21P19474830
BBOX1TRIM14Q14142829
BBOX1TRIM34Q9BYJ4829

IntAct

24 interactions, top by confidence:

ABTypeScore
BBOX1BBOX1psi-mi:“MI:0915”(physical association)0.670
BBOX1SHTN1psi-mi:“MI:0915”(physical association)0.560
SHTN1BBOX1psi-mi:“MI:0915”(physical association)0.560
BBOX1PRE5psi-mi:“MI:0915”(physical association)0.560
PRE5BBOX1psi-mi:“MI:0915”(physical association)0.560
BBOX1ITPRID2psi-mi:“MI:0914”(association)0.530
BBOX1psi-mi:“MI:0915”(physical association)0.370
PRKNBBOX1psi-mi:“MI:0914”(association)0.350
STX17A2ML1psi-mi:“MI:0914”(association)0.350
CCR1UBA6psi-mi:“MI:0914”(association)0.350
BBOX1PPLpsi-mi:“MI:0914”(association)0.350
IL2RGBBOX1psi-mi:“MI:0914”(association)0.350
PLEKHO1BBOX1psi-mi:“MI:0914”(association)0.350
SMPD2A2ML1psi-mi:“MI:0914”(association)0.350
BBOX1BBOX1psi-mi:“MI:0915”(physical association)0.000
HSPB3BBOX1psi-mi:“MI:0915”(physical association)0.000

BioGRID (55): BBOX1 (Two-hybrid), KIAA1598 (Two-hybrid), RTFDC1 (Affinity Capture-MS), AZI2 (Affinity Capture-MS), TBK1 (Affinity Capture-MS), TXLNA (Affinity Capture-MS), ITPR3 (Affinity Capture-MS), CASP2 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), EIF1AX (Affinity Capture-MS), ITPR2 (Affinity Capture-MS), CALCOCO2 (Affinity Capture-MS), TANK (Affinity Capture-MS), POLR3F (Affinity Capture-MS), PCBP3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A2J5V5, A0A384XR80, A0A4V8H042, A5DCB6, A6QLU1, A7DZP8, B3MZN7, E2JA28, F4IY03, O17907, O75936, P04806, P04807, P08509, P11035, P11605, P11832, P12646, P17570, P33284, P38074, P39867, P39868, P41571, P41888, P43101, P43304, P49050, P53973, P56523, P78963, P80581, P83776, Q05549, Q07938, Q09756, Q10439, Q19000, Q27638, Q4R755

Diamond homologs: O75936, P80193, Q19000, Q5R5D8, Q924Y0, Q98KK0, Q9QZU7, A0A384XR80, A0A4V8H042, Q5F4B3, A5DCB6, Q0VC74, Q91ZE0, Q91ZW6, Q96UB1, Q9NVH6

SIGNOR signaling

4 interactions.

AEffectBMechanism
BBOX1“down-regulates quantity”4-(trimethylammonio)butanoate“chemical modification”
BBOX1“down-regulates quantity”2-oxoglutarate(2-)“chemical modification”
BBOX1“up-regulates quantity”carnitine“chemical modification”
BBOX1“up-regulates quantity”succinate(2-)“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

77 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign1
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1088 predictions. Top by Δscore:

VariantEffectΔscore
11:27115451:GAC:Gacceptor_gain1.0000
11:27115451:GACAT:Gacceptor_gain1.0000
11:27119846:G:GGdonor_gain1.0000
11:27125644:A:AGacceptor_gain1.0000
11:27125645:A:Gacceptor_gain1.0000
11:27125647:A:AGacceptor_gain1.0000
11:27125651:CA:Cacceptor_loss1.0000
11:27125652:A:ACacceptor_loss1.0000
11:27125652:A:AGacceptor_gain1.0000
11:27125652:AG:Aacceptor_gain1.0000
11:27125653:G:GGacceptor_gain1.0000
11:27125653:GG:Gacceptor_gain1.0000
11:27125653:GGTT:Gacceptor_gain1.0000
11:27125653:GGTTA:Gacceptor_gain1.0000
11:27125817:CCAGG:Cdonor_loss1.0000
11:27125818:CAGG:Cdonor_loss1.0000
11:27125819:AGGT:Adonor_loss1.0000
11:27125821:G:Adonor_loss1.0000
11:27125822:T:Adonor_loss1.0000
11:27055646:AAAGG:Adonor_loss0.9900
11:27055647:AAGGT:Adonor_loss0.9900
11:27055649:GGTAA:Gdonor_loss0.9900
11:27055650:GT:Gdonor_loss0.9900
11:27055651:T:Gdonor_loss0.9900
11:27092190:G:GTdonor_gain0.9900
11:27093166:A:AGacceptor_gain0.9900
11:27093167:G:GGacceptor_gain0.9900
11:27115446:TTACA:Tacceptor_loss0.9900
11:27115447:TACAG:Tacceptor_loss0.9900
11:27115448:ACAGA:Aacceptor_loss0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000019485 (11:27044573 C>A,G,T), RS1000079446 (11:27103484 A>C), RS1000173477 (11:27061426 C>T), RS1000207289 (11:27118929 A>C), RS1000273333 (11:27110012 C>A), RS1000280654 (11:27067748 G>A), RS1000345181 (11:27074057 T>G), RS1000367110 (11:27064094 T>G), RS1000408371 (11:27090351 G>T), RS1000447399 (11:27105595 A>G), RS1000473022 (11:27103861 T>C), RS1000495924 (11:27118593 T>C), RS1000573306 (11:27108927 G>A), RS1000591030 (11:27113821 A>C), RS1000683120 (11:27072327 T>A)

Disease associations

OMIM: gene MIM:603312 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST012020_583Serum metabolite levels1.000000e-12
GCST012021_100Serum metabolite levels1.000000e-12
GCST90000025_199Appendicular lean mass9.000000e-16

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004980appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2163175 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

8 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 95,375 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL2338329ROXADUSTAT41,063
CHEMBL3544988DAPRODUSTAT4308
CHEMBL3646221VADADUSTAT4533
CHEMBL4297619ENARODUSTAT3109
CHEMBL4650314DESIDUSTAT3254
CHEMBL51085EBSELEN313,237
CHEMBL120563THIRAM279,340
CHEMBL2104708MELDONIUM2531

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

94 potent at pChembl≥5 of 133 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.70IC5020nMCHEMBL6161729
7.70IC5020nMCHEMBL6162468
7.52IC5030nMCHEMBL6170663
7.40IC5040nMCHEMBL6161843
7.30IC5050nMCHEMBL6166855
7.22IC5060nMCHEMBL6133035
7.10IC5080nMCHEMBL6148803
7.05IC5090nMCHEMBL3234384
7.05IC5090nMCHEMBL6168046
7.00IC50100nMCHEMBL3234371
7.00IC50100nMENARODUSTAT
6.96IC50110nMCHEMBL6161797
6.96IC50110nMCHEMBL6164409
6.82IC50150nMCHEMBL6152625
6.70IC50200nMCHEMBL6170083
6.68IC50210nMCHEMBL6164643
6.58IC50260nMCHEMBL3234364
6.55IC50280nMVADADUSTAT
6.48IC50330nMCHEMBL6163182
6.48IC50330nMCHEMBL6175962
6.38IC50420nMDESIDUSTAT
6.38IC50420nMCHEMBL6149931
6.31IC50490nMCHEMBL3234354
6.30IC50500nMCHEMBL6169218
6.28IC50520nMCHEMBL3234372
6.28IC50530nMCHEMBL3234373
6.28IC50520nMCHEMBL6152625
6.26IC50550nMCHEMBL6145224
6.21IC50610nMCHEMBL3234352
6.16IC50690nMEBSELEN
6.15IC50710nMEBSELEN
6.14IC50720nMEBSELEN
6.12IC50760nMEBSELEN
6.12IC50760nMCHEMBL6148285
6.10IC50790nMCHEMBL6171238
6.09IC50810nMCHEMBL3234348
6.08IC50830nMEBSELEN
6.08IC50840nMCHEMBL6144011
6.04IC50920nMCHEMBL6162921
6.00IC501000nMCHEMBL6150437
5.92IC501200nMCHEMBL3234365
5.92IC501200nMCHEMBL6142506
5.92IC501200nMCHEMBL6152541
5.85IC501400nMCHEMBL3234358
5.82IC501500nMCHEMBL6175570
5.77IC501700nMCHEMBL3234370
5.75IC501800nMCHEMBL6164011
5.72IC501900nMCHEMBL6175912
5.72IC501900nMCHEMBL6172170
5.68IC502100nMCHEMBL3234347

PubChem BioAssay actives

48 with measured affinity, of 158 total; 27 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
3-[methyl-(trimethylazaniumyl)amino]propanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.0900uM
trimethyl(3-phosphonopropyl)azanium chloride1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.1000uM
3-carboxypropyl-(2-chloroethyl)-dimethylazanium chloride1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.2600uM
4-(1-methylpyrrolidin-1-ium-1-yl)butanoic acid chloride1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.4900uM
183232201128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.5200uM
ethyl-dimethyl-(3-phosphopropyl)azanium1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.5300uM
3-carboxypropyl-(2-fluoroethyl)-dimethylazanium chloride1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.6100uM
2-phenyl-1,2-benzoselenazol-3-one1166880: Inhibition of human BBOX pre-incubated for 1 min using TBS-protected fluorescein probe and Fe (II) (Fe(NH4)2(SO4)2 salt by fluoride release assayic500.6900uM
4-[cyclobutyl(dimethyl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic500.8100uM
2-bromoethyl-(3-carboxypropyl)-dimethylazanium chloride1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic501.2000uM
4-[dimethyl(prop-2-ynyl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic501.4000uM
3-(trimethylazaniumyl)propane-1-sulfonate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic501.7000uM
4-[cyclopropyl(dimethyl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic502.1000uM
phenyl selenohypochlorite1166884: Inhibition of human BBOX pre-incubated for 25 mins using TBS-protected fluorescein probe and Fe (II) (Fe(NH4)2(SO4)2 salt by fluoride release assayic502.2000uM
phenyl selenohypobromite1166884: Inhibition of human BBOX pre-incubated for 25 mins using TBS-protected fluorescein probe and Fe (II) (Fe(NH4)2(SO4)2 salt by fluoride release assayic502.3000uM
benzeneseleninic acid1166884: Inhibition of human BBOX pre-incubated for 25 mins using TBS-protected fluorescein probe and Fe (II) (Fe(NH4)2(SO4)2 salt by fluoride release assayic502.6000uM
4-[dimethyl(prop-2-enyl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic502.7000uM
3-[ethyl-(trimethylazaniumyl)amino]propanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic502.8000uM
3-[[dimethyl(propyl)azaniumyl]-methylamino]propanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic503.1000uM
4-[ethyl(dimethyl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic503.3000uM
(E)-4-(trimethylazaniumyl)but-2-enoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic503.8000uM
4-(trimethylazaniumyl)pentanoate1128824: Binding affinity to purified human BBOX by isothermal titration calorimetry analysiskd4.1000uM
4-[dimethyl(propan-2-yl)azaniumyl]butanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic505.7000uM
dimethylcarbamothioylsulfanyl N,N-dimethylcarbamodithioate1166884: Inhibition of human BBOX pre-incubated for 25 mins using TBS-protected fluorescein probe and Fe (II) (Fe(NH4)2(SO4)2 salt by fluoride release assayic505.8000uM
3-[ethyl(dimethyl)azaniumyl]propane-1-sulfonate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic506.7000uM
3-[[ethenyl(dimethyl)azaniumyl]amino]propanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic506.8000uM
3-[[ethyl(dimethyl)azaniumyl]-methylamino]propanoate1128822: Inhibition of human recombinant BBOX expressed in Saccharomyces cerevisiae AH22 assessed as formation of carnitine from gamma-butyrobetaine preincubated for 15 mins measured after 30 mins by UPLC-MS/MS analysisic507.2000uM

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Cyclosporinedecreases expression, affects expression4
Aflatoxin B1affects expression, decreases expression, decreases methylation4
Tetrachlorodibenzodioxinaffects expression, decreases expression, decreases reaction, affects cotreatment3
bisphenol Aaffects expression, decreases expression, increases methylation2
Acetaminophendecreases expression2
Air Pollutantsdecreases expression, increases abundance2
Estradiolaffects cotreatment, decreases expression2
Ethinyl Estradiolaffects expression, decreases expression2
Tobacco Smoke Pollutiondecreases expression2
Tretinoindecreases expression, increases expression2
Valproic Acidaffects expression, decreases methylation, increases expression2
gamma-butyrobetaineaffects cotreatment, increases metabolic processing1
methylmercuric chlorideincreases expression1
methyleugenoldecreases expression1
sodium arsenatedecreases expression, increases abundance1
sodium arsenitedecreases expression1
potassium bromatedecreases expression1
ochratoxin Aaffects expression1
S-(1,2-dichlorovinyl)cysteineincreases expression, affects response to substance1
brequinardecreases expression1
CGP 52608affects binding, increases reaction1
MRK 003decreases expression1
Resveratrolaffects cotreatment, decreases expression1
Zoledronic Aciddecreases expression1
Aluminumdecreases reaction, increases chemical synthesis, decreases expression1
Amiodaroneincreases expression1
Arsenicdecreases expression, increases abundance1
Benzo(a)pyrenedecreases expression1
Cadmiumdecreases expression1
Carnitinedecreases reaction, increases chemical synthesis1

ChEMBL screening assays

26 unique, capped per target: 26 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL2167514BindingInhibition of human BBOX1 by fluorescence based assayPlant growth regulator daminozide is a selective inhibitor of human KDM2/7 histone demethylases. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 79

This page pulls from 79 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot