LOXL1 (lysyl oxidase like 1)

2007-04-01  

Identity

HGNC
LOXL1
LOCATION
15q24.1
LOCUSID
4016
ALIAS
LOL,LOXL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4016
MIM: 153456
HGNC: 6665
Ensembl: ENSG00000129038

Variants:

dbSNP: 4016
ClinVar: 4016
TCGA: ENSG00000129038
COSMIC: LOXL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129038ENST00000261921Q08397
ENSG00000129038ENST00000566011H3BUV8

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Crosslinking of collagen fibrilsREACTOMER-HSA-2243919
Elastic fibre formationREACTOMER-HSA-1566948

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
125773002003Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell.244
176902592007Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.239
176902592007Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.239
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
180376242008Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.70
180376242008Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.70
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
180368752007LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.55
162511952005The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers.54
183349282008Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.54

Citation

Dessen P

LOXL1 (lysyl oxidase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47157/loxl1