LIPA (lipase A, lysosomal acid type)

2016-10-01  

Identity

HGNC
LIPA
LOCATION
10q23.31
LOCUSID
3988
ALIAS
CESD,LAL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3988
MIM: 613497
HGNC: 6617
Ensembl: ENSG00000107798

Variants:

dbSNP: 3988
ClinVar: 3988
TCGA: ENSG00000107798
COSMIC: LIPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107798ENST00000282673Q5T770
ENSG00000107798ENST00000336233P38571
ENSG00000107798ENST00000371837P38571
ENSG00000107798ENST00000428800Q5T073
ENSG00000107798ENST00000456827A0A0A0MT32

Expression (GTEx)

0
50
100
150
200
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
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
LysosomeKEGGko04142
LysosomeKEGGhsa04142
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
LDL-mediated lipid transportREACTOMER-HSA-171052

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
375282972024Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?0
384225182024Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.0
385641482024Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.0
375282972024Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?0
384225182024Regional Differences in the Small Intestinal Proteome of Control Mice and of Mice Lacking Lysosomal Acid Lipase.0
385641482024Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.0
364949172023Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.2
370998142023Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.1
372222602023Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.1
374709042023First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.0
379030302023Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.0
364949172023Lipase-a single-nucleotide polymorphism rs143793106 is associated with increased risk of aggressive periodontitis by negative influence on the cytodifferentiation of human periodontal ligament cells.2
370998142023Lysosomal acid lipase regulates bioenergetic process during the cytodifferentiation of human periodontal ligament cells.1
372222602023Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry.1
374709042023First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.0

Citation

Dessen P

LIPA (lipase A, lysosomal acid type)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56549