Seroatlas · Human Serome Atlas

LOXL1

Lysyl oxidase homolog 1

Also known as: LOL, LOXL, LOXL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q08397
Gene: LOXL1
Ensembl: ENSG00000129038
Chromosome: 15
Canonical length: 574 aa
Protein class: Disease related genes, Plasma 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. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

574 residues, UniProt reviewed canonical sequence.

>Q08397|LOXL1
     1  MALARGSRQL GALVWGACLC VLVHGQQAQP GQGSDPARWR QLIQWENNGQ VYSLLNSGSE
    61  YVPAGPQRSE SSSRVLLAGA PQAQQRRSHG SPRRRQAPSL PLPGRVGSDT VRGQARHPFG
   121  FGQVPDNWRE VAVGDSTGMA RARTSVSQQR HGGSASSVSA SAFASTYRQQ PSYPQQFPYP
   181  QAPFVSQYEN YDPASRTYDQ GFVYYRPAGG GVGAGAAAVA SAGVIYPYQP RARYEEYGGG
   241  EELPEYPPQG FYPAPERPYV PPPPPPPDGL DRRYSHSLYS EGTPGFEQAY PDPGPEAAQA
   301  HGGDPRLGWY PPYANPPPEA YGPPRALEPP YLPVRSSDTP PPGGERNGAQ QGRLSVGSVY
   361  RPNQNGRGLP DLVPDPNYVQ ASTYVQRAHL YSLRCAAEEK CLASTAYAPE ATDYDVRVLL
   421  RFPQRVKNQG TADFLPNRPR HTWEWHSCHQ HYHSMDEFSH YDLLDAATGK KVAEGHKASF
   481  CLEDSTCDFG NLKRYACTSH TQGLSPGCYD TYNADIDCQW IDITDVQPGN YILKVHVNPK
   541  YIVLESDFTN NVVRCNIHYT GRYVSATNCK IVQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LOXL1 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): 0.54
Highest tissue expression: 67 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 67 nTPM
heart muscle: 27 nTPM
cervix: 15 nTPM
endometrium: 15 nTPM
prostate: 14 nTPM
vagina: 14 nTPM

Single-cell type

extravillous trophoblasts: 246 nCPM
hepatic stellate cells: 213 nCPM
choroid plexus epithelial cells: 165 nCPM
retinal pigment epithelial cells: 85 nCPM
fibroblasts: 60 nCPM
podocytes: 59 nCPM

Immune cell

T-reg: 3.4 nTPM
memory CD4 T-cell: 1.3 nTPM
MAIT T-cell: 0.9 nTPM
memory CD8 T-cell: 0.7 nTPM
gdT-cell: 0.5 nTPM
naive CD4 T-cell: 0.3 nTPM

Brain region

choroid plexus: 26 nTPM
hypothalamus: 4.9 nTPM
midbrain: 4.5 nTPM
cerebral cortex: 4.4 nTPM
medulla oblongata: 3.8 nTPM
basal ganglia: 3.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LOXL1.

Disease | AllUniProt

Conditions LOXL1 is implicated in, by any mechanism.

Exfoliation syndrome (XFS) MIM:177650

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): 0.38
gnomAD pLI: 0.89
gnomAD missense Z: 1.13
DepMap mean gene effect: -0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LOXL1 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 LOXL1 as an antibody target. Whether an autoantibody or antibody against LOXL1 could matter depends on whether native LOXL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LOXL1 is annotated as secreted, so native LOXL1 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 LOXL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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