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UniProtKB - P38571 (LICH_HUMAN)

Entry version 185 (11 Dec 2019)
Sequence version 2 (21 Jun 2005)
Previous versions | rss
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Protein

Lysosomal acid lipase/cholesteryl ester hydrolase

Gene

LIPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei174Charge relay systemPROSITE-ProRule annotation1
Active sitei374Charge relay systemPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lipase activity Source: UniProtKB
  • sterol esterase activity Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8964038 LDL clearance

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P38571

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...ESTHERi		human-LIPA Acidic_Lipase

MEROPS protease database

More...MEROPSi		S33.017

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001261

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysosomal acid lipase/cholesteryl ester hydrolase (EC:3.1.1.13)
Short name:
Acid cholesteryl ester hydrolase
Short name:
LAL
Alternative name(s):
Cholesteryl esterase
Lipase A
Sterol esterase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LIPA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000107798.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:6617 LIPA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613497 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P38571

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Wolman disease (WOD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004250200L → P in CESD and WOD. 1 PublicationCorresponds to variant dbSNP:rs121965086EnsemblClinVar.1
Cholesteryl ester storage disease (CESD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004248129H → P in CESD. 1 Publication1
Natural variantiVAR_004249129H → R in CESD. 1 PublicationCorresponds to variant dbSNP:rs1423914418Ensembl.1
Natural variantiVAR_004250200L → P in CESD and WOD. 1 PublicationCorresponds to variant dbSNP:rs121965086EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		3988

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		LIPA

MalaCards human disease database

More...MalaCardsi		LIPA
MIMi278000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000107798

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		75234 Cholesteryl ester storage disease
406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
75233 Wolman disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30391

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P38571 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4184

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LIPA

Domain mapping of disease mutations (DMDM)

More...DMDMi		68067636

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001779924 – 399Lysosomal acid lipase/cholesteryl ester hydrolaseAdd BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi72N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi101N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi161N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi273N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi321N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P38571

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P38571

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P38571

MaxQB - The MaxQuant DataBase

More...MaxQBi		P38571

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P38571

PeptideAtlas

More...PeptideAtlasi		P38571

PRoteomics IDEntifications database

More...PRIDEi		P38571

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55301 [P38571-1]
55302 [P38571-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1475

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P38571

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P38571

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107798 Expressed in 232 organ(s), highest expression level in visceral pleura

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P38571 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P38571 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB034892
HPA057052

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110176, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000337354

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P38571

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P38571 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P38571

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini80 – 380AB hydrolase-1Sequence analysisAdd BLAST301

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2624 Eukaryota
COG0596 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154696

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P38571

KEGG Orthology (KO)

More...KOi		K01052

Identification of Orthologs from Complete Genome Data

More...OMAi		PHGLGME

Database of Orthologous Groups

More...OrthoDBi		651396at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P38571

TreeFam database of animal gene trees

More...TreeFami		TF315485

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR025483 Lipase_euk

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00561 Abhydrolase_1, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000862 Steryl_ester_lip, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53474 SSF53474, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00120 LIPASE_SER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P38571-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKMRFLGLVV CLVLWTLHSE GSGGKLTAVD PETNMNVSEI ISYWGFPSEE 
        60         70         80         90        100
YLVETEDGYI LCLNRIPHGR KNHSDKGPKP VVFLQHGLLA DSSNWVTNLA 
       110        120        130        140        150
NSSLGFILAD AGFDVWMGNS RGNTWSRKHK TLSVSQDEFW AFSYDEMAKY 
       160        170        180        190        200
DLPASINFIL NKTGQEQVYY VGHSQGTTIG FIAFSQIPEL AKRIKMFFAL 
       210        220        230        240        250
GPVASVAFCT SPMAKLGRLP DHLIKDLFGD KEFLPQSAFL KWLGTHVCTH 
       260        270        280        290        300
VILKELCGNL CFLLCGFNER NLNMSRVDVY TTHSPAGTSV QNMLHWSQAV 
       310        320        330        340        350
KFQKFQAFDW GSSAKNYFHY NQSYPPTYNV KDMLVPTAVW SGGHDWLADV 
       360        370        380        390 
YDVNILLTQI TNLVFHESIP EWEHLDFIWG LDAPWRLYNK IINLMRKYQ
Length:399
Mass (Da):45,419
Last modified:June 21, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAC75A7909DA9195A
GO
Isoform 2 (identifier: P38571-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     57-76: DGYILCLNRIPHGRKNHSDK → MACLEFVPFDVQMCLEFLPS

Show »
Length:343
Mass (Da):39,112
Checksum:i67B2EB1703A732FC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T073Q5T073_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
290Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MT32A0A0A0MT32_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
283Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T770Q5T770_HUMAN
Lysosomal acid lipase/cholesteryl e...
LIPA
219Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti397K → R in BAD96480 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00424716T → P3 PublicationsCorresponds to variant dbSNP:rs1051338EnsemblClinVar.1
Natural variantiVAR_02652323G → R1 PublicationCorresponds to variant dbSNP:rs1051339EnsemblClinVar.1
Natural variantiVAR_02652429V → L1 PublicationCorresponds to variant dbSNP:rs17850891Ensembl.1
Natural variantiVAR_004248129H → P in CESD. 1 Publication1
Natural variantiVAR_004249129H → R in CESD. 1 PublicationCorresponds to variant dbSNP:rs1423914418Ensembl.1
Natural variantiVAR_004250200L → P in CESD and WOD. 1 PublicationCorresponds to variant dbSNP:rs121965086EnsemblClinVar.1
Natural variantiVAR_049821228F → S. Corresponds to variant dbSNP:rs2228159EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0185961 – 56Missing in isoform 2. CuratedAdd BLAST56
Alternative sequenceiVSP_01859757 – 76DGYIL…NHSDK → MACLEFVPFDVQMCLEFLPS in isoform 2. CuratedAdd BLAST20

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M74775 mRNA Translation: AAA59519.1
U04285 U04293 Genomic DNA Translation: AAB60327.1
X76488 mRNA Translation: CAA54026.1
Z31690 mRNA Translation: CAA83495.1
U08464 mRNA Translation: AAB60328.1
AK314665 mRNA Translation: BAG37222.1
AK222760 mRNA Translation: BAD96480.1
AL353751 Genomic DNA No translation available.
AL353146 Genomic DNA No translation available.
AL513533 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50140.1
CH471066 Genomic DNA Translation: EAW50141.1
CH471066 Genomic DNA Translation: EAW50142.1
BC012287 mRNA Translation: AAH12287.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7401.1 [P38571-1]

Protein sequence database of the Protein Information Resource

More...PIRi		G01416
S41408

NCBI Reference Sequences

More...RefSeqi		NP_000226.2, NM_000235.3 [P38571-1]
NP_001121077.1, NM_001127605.2 [P38571-1]
NP_001275908.1, NM_001288979.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000336233; ENSP00000337354; ENSG00000107798 [P38571-1]
ENST00000371837; ENSP00000360903; ENSG00000107798 [P38571-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3988

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3988

UCSC genome browser

More...UCSCi		uc001kga.6 human [P38571-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74775 mRNA Translation: AAA59519.1
U04285 U04293 Genomic DNA Translation: AAB60327.1
X76488 mRNA Translation: CAA54026.1
Z31690 mRNA Translation: CAA83495.1
U08464 mRNA Translation: AAB60328.1
AK314665 mRNA Translation: BAG37222.1
AK222760 mRNA Translation: BAD96480.1
AL353751 Genomic DNA No translation available.
AL353146 Genomic DNA No translation available.
AL513533 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50140.1
CH471066 Genomic DNA Translation: EAW50141.1
CH471066 Genomic DNA Translation: EAW50142.1
BC012287 mRNA Translation: AAH12287.1
CCDSiCCDS7401.1 [P38571-1]
PIRiG01416
S41408
RefSeqiNP_000226.2, NM_000235.3 [P38571-1]
NP_001121077.1, NM_001127605.2 [P38571-1]
NP_001275908.1, NM_001288979.1

3D structure databases

SMRiP38571
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110176, 3 interactors
STRINGi9606.ENSP00000337354

Chemistry databases

BindingDBiP38571
ChEMBLiCHEMBL4184
SwissLipidsiSLP:000001261

Protein family/group databases

ESTHERihuman-LIPA Acidic_Lipase
MEROPSiS33.017

PTM databases

GlyConnecti1475
iPTMnetiP38571
PhosphoSitePlusiP38571

Polymorphism and mutation databases

BioMutaiLIPA
DMDMi68067636

Proteomic databases

EPDiP38571
jPOSTiP38571
MassIVEiP38571
MaxQBiP38571
PaxDbiP38571
PeptideAtlasiP38571
PRIDEiP38571
ProteomicsDBi55301 [P38571-1]
55302 [P38571-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		3988

Genome annotation databases

EnsembliENST00000336233; ENSP00000337354; ENSG00000107798 [P38571-1]
ENST00000371837; ENSP00000360903; ENSG00000107798 [P38571-2]
GeneIDi3988
KEGGihsa:3988
UCSCiuc001kga.6 human [P38571-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3988
DisGeNETi3988
EuPathDBiHostDB:ENSG00000107798.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		LIPA
GeneReviewsiLIPA
HGNCiHGNC:6617 LIPA
HPAiCAB034892
HPA057052
MalaCardsiLIPA
MIMi278000 phenotype
613497 gene
neXtProtiNX_P38571
OpenTargetsiENSG00000107798
Orphaneti75234 Cholesteryl ester storage disease
406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
75233 Wolman disease
PharmGKBiPA30391

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2624 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00940000154696
InParanoidiP38571
KOiK01052
OMAiPHGLGME
OrthoDBi651396at2759
PhylomeDBiP38571
TreeFamiTF315485

Enzyme and pathway databases

ReactomeiR-HSA-8964038 LDL clearance
SABIO-RKiP38571

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		LIPA human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3988
PharosiP38571 Tchem

Protein Ontology

More...PROi		PR:P38571
RNActiP38571 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107798 Expressed in 232 organ(s), highest expression level in visceral pleura
ExpressionAtlasiP38571 baseline and differential
GenevisibleiP38571 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR025483 Lipase_euk
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
PIRSFiPIRSF000862 Steryl_ester_lip, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLICH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P38571
Secondary accession number(s): B2RBH5
, D3DR29, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: June 21, 2005
Last modified: December 11, 2019
This is version 185 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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