Tissue expression of LIPA - Summary - The Human Protein Atlas

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LIPA

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	LIPA
Gene description	Lipase A, lysosomal acid, cholesterol esterase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Low cytoplasmic expression with a granular pattern in a few tissues including intestinal tract, macrophages and a subset of hematopoietic cells.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. External characterization data supports antibody staining.
Reliability score	Supported based on 2 antibodies. HPA057052 , CAB034892
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	LIPA (HGNC Symbol)
Synonyms	CESD, LAL
Description	Lipase A, lysosomal acid, cholesterol esterase (HGNC Symbol)
Entrez gene summary	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Chromosome	10
Cytoband	q23.31
Chromosome location (bp)	89213569 - 89414557
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000107798 (version 83.38)
Entrez gene	3988
UniProt	P38571 (UniProt - Evidence at protein level)
neXtProt	NX_P38571
Antibodypedia	LIPA antibodies

PROTEIN BROWSER

LIPA-001	LIPA-002	LIPA-004	LIPA-005	LIPA-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
LIPA-001 ENSP00000337354 ENST00000336233	P38571 [Direct mapping] Lysosomal acid lipase/cholesteryl ester hydrolase Show all	Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000902 [cell morphogenesis] GO:0001816 [cytokine production] GO:0004771 [sterol esterase activity] GO:0005764 [lysosome] GO:0006629 [lipid metabolic process] GO:0006631 [fatty acid metabolic process] GO:0006954 [inflammatory response] GO:0008283 [cell proliferation] GO:0016042 [lipid catabolic process] GO:0016125 [sterol metabolic process] GO:0016298 [lipase activity] GO:0016788 [hydrolase activity, acting on ester bonds] GO:0030324 [lung development] GO:0048771 [tissue remodeling] GO:0048873 [homeostasis of number of cells within a tissue] GO:0070062 [extracellular exosome] Show all	399 aa 45.4 kDa	Yes	0
LIPA-002 ENSP00000388415 ENST00000428800	Q5T073 [Direct mapping] Lysosomal acid lipase/cholesteryl ester hydrolase Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0006629 [lipid metabolic process] Show all	290 aa 32.4 kDa	Yes	0
LIPA-004 ENSP00000360903 ENST00000371837	P38571 [Direct mapping] Lysosomal acid lipase/cholesteryl ester hydrolase Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004771 [sterol esterase activity] GO:0005764 [lysosome] GO:0006629 [lipid metabolic process] GO:0016042 [lipid catabolic process] GO:0016298 [lipase activity] GO:0070062 [extracellular exosome] Show all	343 aa 39.1 kDa	No	0
LIPA-005 ENSP00000282673 ENST00000282673	Q5T770 [Direct mapping] Lysosomal acid lipase/cholesteryl ester hydrolase Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0006629 [lipid metabolic process] Show all	219 aa 24.4 kDa	Yes	0
LIPA-201 ENSP00000413019 ENST00000456827	A0A0A0MT32 [Direct mapping] Lysosomal acid lipase/cholesteryl ester hydrolase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		283 aa 32.6 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.