Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P38571

- LICH_HUMAN

UniProt

P38571 - LICH_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 2 (21 Jun 2005)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 systemPROSITE-ProRule annotation
    Active sitei374 – 3741Charge relay systemPROSITE-ProRule annotation

    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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 399376Lysosomal acid lipase/cholesteryl ester hydrolasePRO_0000017799Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi36 – 361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi72 – 721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi101 – 1011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi161 – 1611N-linked (GlcNAc...)1 Publication
    Glycosylationi273 – 2731N-linked (GlcNAc...)Sequence Analysis
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AB hydrolase superfamily. Lipase family.Curated

    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

    Experimental Info

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

    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. CuratedVSP_018596Add
    BLAST
    Alternative sequencei57 – 7620DGYIL…NHSDK → MACLEFVPFDVQMCLEFLPS in isoform 2. CuratedVSP_018597Add
    BLAST

    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

    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: October 1, 2014
    This is version 143 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