Seroatlas · Human Serome Atlas

BBOX1

Gamma-butyrobetaine dioxygenase

Also known as: BBH, BBOX, BODG_HUMAN, G-BBH, gamma-BBH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75936
Gene: BBOX1
Ensembl: ENSG00000129151
Chromosome: 11
Canonical length: 387 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Actin filaments

OverviewNCBI Gene

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

387 residues, UniProt reviewed canonical sequence.

>O75936|BBOX1
     1  MACTIQKAEA LDGAHLMQIL WYDEEESLYP AVWLRDNCPC SDCYLDSAKA RKLLVEALDV
    61  NIGIKGLIFD RKKVYITWPD EHYSEFQADW LKKRCFSKQA RAKLQRELFF PECQYWGSEL
   121  QLPTLDFEDV LRYDEHAYKW LSTLKKVGIV RLTGASDKPG EVSKLGKRMG FLYLTFYGHT
   181  WQVQDKIDAN NVAYTTGKLS FHTDYPALHH PPGVQLLHCI KQTVTGGDSE IVDGFNVCQK
   241  LKKNNPQAFQ ILSSTFVDFT DIGVDYCDFS VQSKHKIIEL DDKGQVVRIN FNNATRDTIF
   301  DVPVERVQPF YAALKEFVDL MNSKESKFTF KMNPGDVITF DNWRLLHGRR SYEAGTEISR
   361  HLEGAYADWD VVMSRLRILR QRVENGN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBOX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 437 nTPM

Expression across tissuesHPA

Tissue

kidney: 437 nTPM
liver: 123 nTPM
skin: 49 nTPM
midbrain: 33 nTPM
amygdala: 26 nTPM
breast: 23 nTPM

Single-cell type

proximal tubule cells: 350 nCPM
ependymal cells: 223 nCPM
loop of henle epithelial cells: 160 nCPM
epicardial cells: 123 nCPM
astrocytes: 122 nCPM
esophageal suprabasal cells: 79 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 42 nTPM
midbrain: 38 nTPM
spinal cord: 28 nTPM
cerebellum: 28 nTPM
white matter: 23 nTPM
pons: 23 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.48
gnomAD pLI: 0
gnomAD missense Z: 0.59
DepMap mean gene effect: 0.11
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

carnitine biosynthetic process

Molecular functions

identical protein binding
iron ion binding
zinc ion binding
gamma-butyrobetaine dioxygenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BBOX1 as an antibody target. Whether an autoantibody or antibody against BBOX1 could matter depends on whether native BBOX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBOX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BBOX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...