Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8424
Gene name	Gamma-butyrobetaine hydroxylase 1
Gene symbol	BBOX1
Synonyms (NCBI Gene)	BBHBBOXG-BBHgamma-BBH
Chromosome	11
Chromosome location	11p14.2
Summary	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 mi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT708564	hsa-miR-5583-3p	HITS-CLIP	19536157
MIRT708563	hsa-miR-616-3p	HITS-CLIP	19536157
MIRT708562	hsa-miR-4477a	HITS-CLIP	19536157
MIRT708561	hsa-miR-6505-5p	HITS-CLIP	19536157
MIRT816761	hsa-miR-2278	CLIP-seq
MIRT816762	hsa-miR-4468	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008270	Function	Zinc ion binding	IDA	20599753
GO:0008336	Function	Gamma-butyrobetaine dioxygenase activity	EXP	9753662, 20599753
GO:0008336	Function	Gamma-butyrobetaine dioxygenase activity	IBA
GO:0008336	Function	Gamma-butyrobetaine dioxygenase activity	IDA	9753662, 20599753
GO:0008336	Function	Gamma-butyrobetaine dioxygenase activity	IEA
GO:0008336	Function	Gamma-butyrobetaine dioxygenase activity	ISS	10526231
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045329	Process	Carnitine biosynthetic process	IBA
GO:0045329	Process	Carnitine biosynthetic process	IDA	9753662, 20599753
GO:0045329	Process	Carnitine biosynthetic process	IEA
GO:0045329	Process	Carnitine biosynthetic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
603312	964	ENSG00000129151

O75936

Protein name

Gamma-butyrobetaine dioxygenase (EC 1.14.11.1) (Gamma-butyrobetaine hydroxylase) (Gamma-BBH) (Gamma-butyrobetaine,2-oxoglutarate dioxygenase)

Protein function

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

PDB

3MS5 , 3N6W , 3O2G , 4BG1 , 4BGK , 4BGM , 4BHF , 4BHG , 4BHI , 4C5W , 4C8R , 4CWD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06155	GBBH-like_N	9 → 92	Gamma-butyrobetaine hydroxylase-like, N-terminal	Domain
PF02668	TauD	107 → 366	Taurine catabolism dioxygenase TauD, TfdA family	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in kidney; moderately expressed in liver; very low expression in brain.

Sequence

MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDV
NIGIKGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQRELFFPECQYWGSEL
QLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHT
WQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQK
LKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIF
DVPVERVQPFYAALKEFVDLMNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISR
HLEGAYADWDVVMSRLRILRQRVENGN

Sequence length

387

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		Carnitine synthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BBOX1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	40183343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35775648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36864013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31984680, 33481661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31683344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30819181	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30819181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30819181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	30819181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36864013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29065368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35188872, 37735639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37735639	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primrose syndrome	Primrose Syndrome	BEFREE	24986124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29065368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35506252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25769450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25769450, 36700475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32690540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32515533, 33678324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BBOX1 (gamma-butyrobetaine hydroxylase 1)