BBOX1

Description		gamma-butyrobetaine hydroxylase 1
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GO Annotations	Cellular Component	Cytoplasm Mitochondrion Cytosol Extracellular Exosome
	Molecular Function	Iron Ion Binding Protein Binding Zinc Ion Binding Gamma-butyrobetaine Dioxygenase Activity Oxidoreductase Activity Identical Protein Binding Metal Ion Binding Dioxygenase Activity
	Biological Process	Carnitine Biosynthetic Process
Pathways		Carnitine synthesis
Drugs		Ascorbic acid
Diseases
GWAS		Appendicular lean mass ( 33097823) Serum metabolite levels ( 33031748)
Novel Interacting Genes		1 novel interacting genes: ANO3
Interacting Genes		3 interacting genes: HSPB3 SHTN1 STUB1
Entrez ID		8424
HPRD ID		04498
Ensembl ID		ENSG00000129151
Uniprot IDs		O75936
PDB IDs		3MS5 3N6W 3O2G 4BG1 4BGK 4BGM 4BHF 4BHG 4BHI 4C5W 4C8R 4CWD
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Chaperone-mediated Protein Complex Assembly Endoplasmic Reticulum Polarization Actin Filament Bundle Retrograde Transport Response To Temperature Stimulus Calcium Activated Galactosylceramide Scrambling Negative Regulation Of Vascular Associated Smooth Muscle Contraction Cdc42 Protein Signal Transduction Ubiquitin Conjugating Enzyme Complex Calcium Activated Phospholipid Scrambling Calcium Activated Phosphatidylcholine Scrambling Cytoplasmic Actin-based Contraction Involved In Cell Motility Chaperone-mediated Autophagy Negative Regulation Of Peroxisome Proliferator Activated Receptor Signaling Pathway TPR Domain Binding Nuclear Inclusion Body Regulation Of Glucocorticoid Metabolic Process Negative Regulation Of Vasoconstriction Regulation Of Vascular Associated Smooth Muscle Contraction Response To Misfolded Protein Cellular Response To Misfolded Protein Negative Regulation Of Smooth Muscle Contraction Netrin-activated Signaling Pathway Substrate-dependent Cell Migration, Cell Extension Positive Regulation Of ERAD Pathway Regulation Of Peroxisome Proliferator Activated Receptor Signaling Pathway Ubiquitin-ubiquitin Ligase Activity Negative Regulation Of Smooth Muscle Cell Apoptotic Process Positive Regulation Of Smooth Muscle Cell Apoptotic Process Misfolded Protein Binding Positive Regulation Of Neuron Migration Intracellularly Calcium-gated Chloride Channel Activity Phospholipid Scramblase Activity Negative Regulation Of Muscle Contraction Plasma Membrane Phospholipid Scrambling ERBB2 Signaling Pathway Regulation Of Establishment Of Cell Polarity Detection Of Temperature Stimulus Positive Regulation Of Mitophagy Regulation Of ERAD Pathway Axonal Growth Cone Positive Regulation Of Autophagy Of Mitochondrion R-SMAD Binding Regulation Of Establishment Or Maintenance Of Cell Polarity Cellular Response To Topologically Incorrect Protein
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