LOX
Protein-lysine 6-oxidase
Also known as: LYOX_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P28300
- Gene
- LOX
- Ensembl
- ENSG00000113083
- Chromosome
- 5
- Canonical length
- 417 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Endoplasmic reticulum
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Canonical amino-acid sequenceUniProt
417 residues, UniProt reviewed canonical sequence.
>P28300|LOX
1 MRFAWTVLLL GPLQLCALVH CAPPAAGQQQ PPREPPAAPG AWRQQIQWEN NGQVFSLLSL
61 GSQYQPQRRR DPGAAVPGAA NASAQQPRTP ILLIRDNRTA AARTRTAGSS GVTAGRPRPT
121 ARHWFQAGYS TSRAREAGAS RAENQTAPGE VPALSNLRPP SRVDGMVGDD PYNPYKYSDD
181 NPYYNYYDTY ERPRPGGRYR PGYGTGYFQY GLPDLVADPY YIQASTYVQK MSMYNLRCAA
241 EENCLASTAY RADVRDYDHR VLLRFPQRVK NQGTSDFLPS RPRYSWEWHS CHQHYHSMDE
301 FSHYDLLDAN TQRRVAEGHK ASFCLEDTSC DYGYHRRFAC TAHTQGLSPG CYDTYGADID
361 CQWIDITDVK PGNYILKVSV NPSYLVPESD YTNNVVRCDI RYTGHHAYAS GCTISPYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LOX 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 26 nTPM
- heart muscle: 24 nTPM
- blood vessel: 22 nTPM
- gallbladder: 18 nTPM
- breast: 17 nTPM
- urinary bladder: 13 nTPM
Single-cell type
- fibroblasts: 112 nCPM
- lymphatic endothelial cells: 96 nCPM
- podocytes: 68 nCPM
- extravillous trophoblasts: 66 nCPM
- hepatic stellate cells: 58 nCPM
- early spermatids: 41 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
- midbrain: 3.8 nTPM
- medulla oblongata: 3.7 nTPM
- spinal cord: 3.4 nTPM
- cerebral cortex: 2.9 nTPM
- white matter: 2.9 nTPM
- choroid plexus: 2.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LOX.
Disease | AllUniProt
Conditions LOX is implicated in, by any mechanism.
- Aortic aneurysm, familial thoracic 10 (AAT10) MIM:617168
Disease | GeneticClinVar
54 pathogenic / likely-pathogenic of 681 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Aortic aneurysm, familial thoracic 10
- Cardiovascular phenotype
- Congenital aneurysm of ascending aorta
- Acute aortic dissection
- Familial thoracic aortic aneurysm and aortic dissection
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)
- 0.28
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 0.65
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blood vessel morphogenesis
- bone mineralization
- cell chemotaxis
- cellular response to chemokine
- collagen fibril organization
- connective tissue development
- DNA biosynthetic process
- elastic fiber assembly
- heart development
- lung development
- muscle cell cellular homeostasis
- muscle cell development
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- osteoblast differentiation
- peptidyl-lysine oxidation
- platelet-derived growth factor receptor-beta signaling pathway
- protein modification process
- regulation of apoptotic process
- regulation of bone development
- regulation of gene expression
- regulation of megakaryocyte differentiation
- regulation of striated muscle tissue development
- regulation of transforming growth factor beta receptor signaling pathway
- response to steroid hormone
- response to xenobiotic stimulus
- ascending aorta development
- descending aorta development
- regulation of platelet-derived growth factor receptor-beta signaling pathway
Molecular functions
- collagen binding
- copper ion binding
- molecular adaptor activity
- protein-lysine 6-oxidase activity
- small molecule binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LOX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LOX as an antibody target. Whether an autoantibody or antibody against LOX could matter depends on whether native LOX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LOX is annotated as secreted, so native LOX circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label LOX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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