LOXL3
Lysyl oxidase homolog 3
Also known as: LOXL3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P58215
- Gene
- LOXL3
- Ensembl
- ENSG00000115318
- Chromosome
- 2
- Canonical length
- 753 aa
- Protein class
- Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
Canonical amino-acid sequenceUniProt
753 residues, UniProt reviewed canonical sequence.
>P58215|LOXL3
1 MRPVSVWQWS PWGLLLCLLC SSCLGSPSPS TGPEKKAGSQ GLRFRLAGFP RKPYEGRVEI
61 QRAGEWGTIC DDDFTLQAAH ILCRELGFTE ATGWTHSAKY GPGTGRIWLD NLSCSGTEQS
121 VTECASRGWG NSDCTHDEDA GVICKDQRLP GFSDSNVIEV EHHLQVEEVR IRPAVGWGRR
181 PLPVTEGLVE VRLPDGWSQV CDKGWSAHNS HVVCGMLGFP SEKRVNAAFY RLLAQRQQHS
241 FGLHGVACVG TEAHLSLCSL EFYRANDTAR CPGGGPAVVS CVPGPVYAAS SGQKKQQQSK
301 PQGEARVRLK GGAHPGEGRV EVLKASTWGT VCDRKWDLHA ASVVCRELGF GSAREALSGA
361 RMGQGMGAIH LSEVRCSGQE LSLWKCPHKN ITAEDCSHSQ DAGVRCNLPY TGAETRIRLS
421 GGRSQHEGRV EVQIGGPGPL RWGLICGDDW GTLEAMVACR QLGLGYANHG LQETWYWDSG
481 NITEVVMSGV RCTGTELSLD QCAHHGTHIT CKRTGTRFTA GVICSETASD LLLHSALVQE
541 TAYIEDRPLH MLYCAAEENC LASSARSANW PYGHRRLLRF SSQIHNLGRA DFRPKAGRHS
601 WVWHECHGHY HSMDIFTHYD ILTPNGTKVA EGHKASFCLE DTECQEDVSK RYECANFGEQ
661 GITVGCWDLY RHDIDCQWID ITDVKPGNYI LQVVINPNFE VAESDFTNNA MKCNCKYDGH
721 RIWVHNCHIG DAFSEEANRR FERYPGQTSN QIILocalizationUniProt · AlphaFold · HPA
Whether an antibody against LOXL3 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)
- 0.29
- Highest tissue expression
- 15 nTPM
Expression across tissuesHPA
Tissue
- placenta: 15 nTPM
- bone marrow: 13 nTPM
- blood vessel: 13 nTPM
- spleen: 9 nTPM
- heart muscle: 8.3 nTPM
- smooth muscle: 7.6 nTPM
Single-cell type
- microglia: 84 nCPM
- epicardial cells: 46 nCPM
- macrophages: 41 nCPM
- müller glia: 37 nCPM
- hofbauer cells: 35 nCPM
- adrenal medulla cells: 32 nCPM
Immune cell
- intermediate monocyte: 12 nTPM
- non-classical monocyte: 9.3 nTPM
- classical monocyte: 5.9 nTPM
- myeloid DC: 3.4 nTPM
- total PBMC: 2.6 nTPM
- neutrophil: 2.5 nTPM
Brain region
- white matter: 13 nTPM
- medulla oblongata: 13 nTPM
- thalamus: 12 nTPM
- spinal cord: 9.5 nTPM
- hypothalamus: 9.1 nTPM
- pons: 8.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LOXL3.
Disease | AllUniProt
Conditions LOXL3 is implicated in, by any mechanism.
- Myopia 28, autosomal recessive (MYP28) MIM:619781
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 538 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myopia 28, autosomal recessive
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)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.56
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
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
- collagen fibril organization
- epithelial to mesenchymal transition
- fibronectin fibril organization
- inflammatory response
- lung development
- negative regulation of DNA-templated transcription
- negative regulation of T-helper 17 cell lineage commitment
- peptidyl-lysine oxidation
- positive regulation of integrin-mediated signaling pathway
- roof of mouth development
- somite development
- spinal cord development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LOXL3 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 LOXL3 as an antibody target. Whether an autoantibody or antibody against LOXL3 could matter depends on whether native LOXL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LOXL3 is annotated as secreted, so native LOXL3 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 LOXL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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