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P38571

- LICH_HUMAN

UniProt

P38571 - LICH_HUMAN

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Protein

Lysosomal acid lipase/cholesteryl ester hydrolase

Gene
LIPA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

Catalytic activityi

A steryl ester + H2O = a sterol + a fatty acid.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei174 – 1741Charge relay system By similarity
Active sitei374 – 3741Charge relay system By similarity

GO - Molecular functioni

  1. lipase activity Source: UniProtKB
  2. sterol esterase activity Source: UniProtKB

GO - Biological processi

  1. cell morphogenesis Source: Ensembl
  2. cell proliferation Source: Ensembl
  3. cytokine production Source: Ensembl
  4. homeostasis of number of cells within a tissue Source: Ensembl
  5. inflammatory response Source: Ensembl
  6. lipid catabolic process Source: UniProtKB-KW
  7. lung development Source: Ensembl
  8. tissue remodeling Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

SABIO-RKP38571.

Protein family/group databases

MEROPSiS33.017.

Names & Taxonomyi

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
Gene namesi
Name:LIPA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:6617. LIPA.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. lysosome Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Wolman disease (WOD) [MIM:278000]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001L → P in CESD and WOD. 1 Publication
VAR_004250
Cholesteryl ester storage disease (CESD) [MIM:278000]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti129 – 1291H → P in CESD. 1 Publication
VAR_004248
Natural varianti129 – 1291H → R in CESD. 1 Publication
VAR_004249
Natural varianti200 – 2001L → P in CESD and WOD. 1 Publication
VAR_004250

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi278000. phenotype.
Orphaneti75234. Cholesteryl ester storage disease.
75233. Wolman disease.
PharmGKBiPA30391.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed predictionAdd
BLAST
Chaini24 – 399376Lysosomal acid lipase/cholesteryl ester hydrolasePRO_0000017799Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi36 – 361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi72 – 721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi101 – 1011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi161 – 1611N-linked (GlcNAc...)1 Publication
Glycosylationi273 – 2731N-linked (GlcNAc...) Reviewed prediction
Glycosylationi321 – 3211N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP38571.
PaxDbiP38571.
PRIDEiP38571.

PTM databases

PhosphoSiteiP38571.

Expressioni

Gene expression databases

ArrayExpressiP38571.
BgeeiP38571.
CleanExiHS_LIPA.
GenevestigatoriP38571.

Organism-specific databases

HPAiCAB034892.

Interactioni

Protein-protein interaction databases

BioGridi110176. 3 interactions.
STRINGi9606.ENSP00000337354.

Structurei

3D structure databases

ProteinModelPortaliP38571.
SMRiP38571. Positions 24-395.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG0596.
HOVERGENiHBG006265.
KOiK01052.
OMAiFCTSPLA.
OrthoDBiEOG71RXJN.
PhylomeDBiP38571.
TreeFamiTF315485.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
IPR006693. AB_hydrolase_lipase.
IPR025483. Lipase_euk.
[Graphical view]
PfamiPF04083. Abhydro_lipase. 1 hit.
PF00561. Abhydrolase_1. 1 hit.
[Graphical view]
PIRSFiPIRSF000862. Steryl_ester_lip. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

This isoform has been chosen as the 'canonical' 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

MKMRFLGLVV CLVLWTLHSE GSGGKLTAVD PETNMNVSEI ISYWGFPSEE    50
YLVETEDGYI LCLNRIPHGR KNHSDKGPKP VVFLQHGLLA DSSNWVTNLA 100
NSSLGFILAD AGFDVWMGNS RGNTWSRKHK TLSVSQDEFW AFSYDEMAKY 150
DLPASINFIL NKTGQEQVYY VGHSQGTTIG FIAFSQIPEL AKRIKMFFAL 200
GPVASVAFCT SPMAKLGRLP DHLIKDLFGD KEFLPQSAFL KWLGTHVCTH 250
VILKELCGNL CFLLCGFNER NLNMSRVDVY TTHSPAGTSV QNMLHWSQAV 300
KFQKFQAFDW GSSAKNYFHY NQSYPPTYNV KDMLVPTAVW SGGHDWLADV 350
YDVNILLTQI TNLVFHESIP EWEHLDFIWG LDAPWRLYNK IINLMRKYQ 399
Length:399
Mass (Da):45,419
Last modified:June 21, 2005 - v2
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

Note: No experimental confirmation available.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161T → P.3 Publications
Corresponds to variant rs1051338 [ dbSNP | Ensembl ].
VAR_004247
Natural varianti23 – 231G → R.1 Publication
Corresponds to variant rs1051339 [ dbSNP | Ensembl ].
VAR_026523
Natural varianti29 – 291V → L.1 Publication
Corresponds to variant rs17850891 [ dbSNP | Ensembl ].
VAR_026524
Natural varianti129 – 1291H → P in CESD. 1 Publication
VAR_004248
Natural varianti129 – 1291H → R in CESD. 1 Publication
VAR_004249
Natural varianti200 – 2001L → P in CESD and WOD. 1 Publication
VAR_004250
Natural varianti228 – 2281F → S.
Corresponds to variant rs2228159 [ dbSNP | Ensembl ].
VAR_049821

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5656Missing in isoform 2. VSP_018596Add
BLAST
Alternative sequencei57 – 7620DGYIL…NHSDK → MACLEFVPFDVQMCLEFLPS in isoform 2. VSP_018597Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti397 – 3971K → R in BAD96480. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M74775 mRNA. Translation: AAA59519.1.
U04285
, U04286, U04287, U04288, U04290, U04291, U04292, 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, AL353146, AL513533 Genomic DNA. Translation: CAI12234.1.
AL353751, AL513533 Genomic DNA. Translation: CAI12236.1.
AL353146, AL353751, AL513533 Genomic DNA. Translation: CAI12380.1.
AL513533, AL353146, AL353751 Genomic DNA. Translation: CAI13515.1.
AL513533, AL353751 Genomic DNA. Translation: CAI13516.1.
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.
UniGeneiHs.643030.

Genome annotation databases

EnsembliENST00000336233; ENSP00000337354; ENSG00000107798. [P38571-1]
ENST00000371837; ENSP00000360903; ENSG00000107798. [P38571-2]
ENST00000456827; ENSP00000413019; ENSG00000107798. [P38571-1]
GeneIDi3988.
KEGGihsa:3988.
UCSCiuc001kga.4. human. [P38571-1]
uc001kgb.4. human. [P38571-2]

Polymorphism databases

DMDMi68067636.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M74775 mRNA. Translation: AAA59519.1 .
U04285
, U04286 , U04287 , U04288 , U04290 , U04291 , U04292 , 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 , AL353146 , AL513533 Genomic DNA. Translation: CAI12234.1 .
AL353751 , AL513533 Genomic DNA. Translation: CAI12236.1 .
AL353146 , AL353751 , AL513533 Genomic DNA. Translation: CAI12380.1 .
AL513533 , AL353146 , AL353751 Genomic DNA. Translation: CAI13515.1 .
AL513533 , AL353751 Genomic DNA. Translation: CAI13516.1 .
CH471066 Genomic DNA. Translation: EAW50140.1 .
CH471066 Genomic DNA. Translation: EAW50141.1 .
CH471066 Genomic DNA. Translation: EAW50142.1 .
BC012287 mRNA. Translation: AAH12287.1 .
CCDSi CCDS7401.1. [P38571-1 ]
PIRi G01416.
S41408.
RefSeqi NP_000226.2. NM_000235.3. [P38571-1 ]
NP_001121077.1. NM_001127605.2. [P38571-1 ]
NP_001275908.1. NM_001288979.1.
UniGenei Hs.643030.

3D structure databases

ProteinModelPortali P38571.
SMRi P38571. Positions 24-395.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110176. 3 interactions.
STRINGi 9606.ENSP00000337354.

Chemistry

BindingDBi P38571.
ChEMBLi CHEMBL4184.

Protein family/group databases

MEROPSi S33.017.

PTM databases

PhosphoSitei P38571.

Polymorphism databases

DMDMi 68067636.

Proteomic databases

MaxQBi P38571.
PaxDbi P38571.
PRIDEi P38571.

Protocols and materials databases

DNASUi 3988.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000336233 ; ENSP00000337354 ; ENSG00000107798 . [P38571-1 ]
ENST00000371837 ; ENSP00000360903 ; ENSG00000107798 . [P38571-2 ]
ENST00000456827 ; ENSP00000413019 ; ENSG00000107798 . [P38571-1 ]
GeneIDi 3988.
KEGGi hsa:3988.
UCSCi uc001kga.4. human. [P38571-1 ]
uc001kgb.4. human. [P38571-2 ]

Organism-specific databases

CTDi 3988.
GeneCardsi GC10M090963.
HGNCi HGNC:6617. LIPA.
HPAi CAB034892.
MIMi 278000. phenotype.
613497. gene.
neXtProti NX_P38571.
Orphaneti 75234. Cholesteryl ester storage disease.
75233. Wolman disease.
PharmGKBi PA30391.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0596.
HOVERGENi HBG006265.
KOi K01052.
OMAi FCTSPLA.
OrthoDBi EOG71RXJN.
PhylomeDBi P38571.
TreeFami TF315485.

Enzyme and pathway databases

SABIO-RK P38571.

Miscellaneous databases

ChiTaRSi LIPA. human.
GenomeRNAii 3988.
NextBioi 15646.
PROi P38571.
SOURCEi Search...

Gene expression databases

ArrayExpressi P38571.
Bgeei P38571.
CleanExi HS_LIPA.
Genevestigatori P38571.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
IPR006693. AB_hydrolase_lipase.
IPR025483. Lipase_euk.
[Graphical view ]
Pfami PF04083. Abhydro_lipase. 1 hit.
PF00561. Abhydrolase_1. 1 hit.
[Graphical view ]
PIRSFi PIRSF000862. Steryl_ester_lip. 1 hit.
SUPFAMi SSF53474. SSF53474. 1 hit.
PROSITEi PS00120. LIPASE_SER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases."
    Anderson R.A., Sando G.N.
    J. Biol. Chem. 266:22479-22484(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 196-212; 277-297 AND 305-315, VARIANT PRO-16.
  2. "Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase."
    Ameis D., Merkel M., Eckerskorn C., Greten H.
    Eur. J. Biochem. 219:905-914(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  3. "Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein."
    Du H., Witte D.P., Grabowski G.A.
    J. Lipid Res. 37:937-949(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-23.
    Tissue: Liver.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-16.
    Tissue: Umbilical cord blood.
  5. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  6. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PRO-16 AND LEU-29.
    Tissue: Placenta.
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-161 AND ASN-321.
    Tissue: Liver.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease."
    Anderson R.A., Byrum R.S., Coates P.M., Sando G.N.
    Proc. Natl. Acad. Sci. U.S.A. 91:2718-2722(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CESD/WOD PRO-200.
  12. "Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals."
    Ries S., Buechler C., Schindler G., Aslanidis C., Ameis D., Gasche C., Jung N., Schambach A., Fehringer P., Vanier M.T., Belli D.C., Greten H., Schmitz G.
    Hum. Mutat. 12:44-51(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CESD ARG-129 AND PRO-129.

Entry informationi

Entry nameiLICH_HUMAN
AccessioniPrimary (citable) accession number: P38571
Secondary accession number(s): B2RBH5
, D3DR29, Q16529, Q53H21, Q5T074, Q5T771, Q96EJ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: June 21, 2005
Last modified: September 3, 2014
This is version 142 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

External Data

Dasty 3

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