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P11117

- PPAL_HUMAN

UniProt

P11117 - PPAL_HUMAN

Protein

Lysosomal acid phosphatase

Gene

ACP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 3 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    A phosphate monoester + H2O = an alcohol + phosphate.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei42 – 421NucleophileBy similarity
    Active sitei287 – 2871Proton donorBy similarity

    GO - Molecular functioni

    1. acid phosphatase activity Source: ProtInc

    GO - Biological processi

    1. dephosphorylation Source: GOC
    2. lysosome organization Source: Ensembl
    3. skeletal system development Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lysosomal acid phosphatase (EC:3.1.3.2)
    Short name:
    LAP
    Gene namesi
    Name:ACP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:123. ACP2.

    Subcellular locationi

    Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen
    Note: The soluble form arises by proteolytic processing of the membrane-bound form.

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: ProtInc
    3. lysosomal lumen Source: UniProtKB-SubCell
    4. lysosomal membrane Source: UniProtKB-SubCell
    5. lysosome Source: MGI
    6. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Acid phosphatase deficiency (ACPHD) [MIM:200950]: A disorder characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi200950. phenotype.
    Orphaneti35121. Acid phosphatase deficiency.
    PharmGKBiPA24447.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3030Add
    BLAST
    Chaini31 – 423393Lysosomal acid phosphatasePRO_0000023960Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi92 – 921N-linked (GlcNAc...)2 Publications
    Glycosylationi133 – 1331N-linked (GlcNAc...)2 Publications
    Disulfide bondi159 ↔ 370By similarity
    Glycosylationi167 – 1671N-linked (GlcNAc...)2 Publications
    Glycosylationi177 – 1771N-linked (GlcNAc...)2 Publications
    Glycosylationi191 – 1911N-linked (GlcNAc...)1 Publication
    Disulfide bondi212 ↔ 310By similarity
    Glycosylationi267 – 2671N-linked (GlcNAc...)2 Publications
    Glycosylationi322 – 3221N-linked (GlcNAc...)1 Publication
    Glycosylationi331 – 3311N-linked (GlcNAc...)2 Publications
    Disulfide bondi345 ↔ 349By similarity

    Post-translational modificationi

    The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen.2 Publications
    N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP11117.
    PaxDbiP11117.
    PeptideAtlasiP11117.
    PRIDEiP11117.

    PTM databases

    PhosphoSiteiP11117.

    Expressioni

    Gene expression databases

    ArrayExpressiP11117.
    BgeeiP11117.
    CleanExiHS_ACP2.
    GenevestigatoriP11117.

    Interactioni

    Protein-protein interaction databases

    BioGridi106569. 6 interactions.
    IntActiP11117. 2 interactions.
    STRINGi9606.ENSP00000256997.

    Structurei

    3D structure databases

    ProteinModelPortaliP11117.
    SMRiP11117. Positions 31-370.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini31 – 380350LumenalSequence AnalysisAdd
    BLAST
    Topological domaini402 – 42322CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei381 – 40121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the histidine acid phosphatase family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG85977.
    HOGENOMiHOG000231439.
    HOVERGENiHBG002203.
    InParanoidiP11117.
    KOiK14410.
    OMAiQDFLHLT.
    OrthoDBiEOG7GXPBJ.
    PhylomeDBiP11117.
    TreeFamiTF312893.

    Family and domain databases

    Gene3Di3.40.50.1240. 1 hit.
    InterProiIPR000560. His_Pase_superF_clade-2.
    IPR029033. His_PPase_superfam.
    [Graphical view]
    PfamiPF00328. His_Phos_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF53254. SSF53254. 1 hit.
    PROSITEiPS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
    PS00778. HIS_ACID_PHOSPHAT_2. 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: P11117-1) [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

    MAGKRSGWSR AALLQLLLGV NLVVMPPTRA RSLRFVTLLY RHGDRSPVKT    50
    YPKDPYQEEE WPQGFGQLTK EGMLQHWELG QALRQRYHGF LNTSYHRQEV 100
    YVRSTDFDRT LMSAEANLAG LFPPNGMQRF NPNISWQPIP VHTVPITEDR 150
    LLKFPLGPCP RYEQLQNETR QTPEYQNESS RNAQFLDMVA NETGLTDLTL 200
    ETVWNVYDTL FCEQTHGLRL PPWASPQTMQ RLSRLKDFSF RFLFGIYQQA 250
    EKARLQGGVL LAQIRKNLTL MATTSQLPKL LVYSAHDTTL VALQMALDVY 300
    NGEQAPYASC HIFELYQEDS GNFSVEMYFR NESDKAPWPL SLPGCPHRCP 350
    LQDFLRLTEP VVPKDWQQEC QLASGPADTE VIVALAVCGS ILFLLIVLLL 400
    TVLFRMQAQP PGYRHVADGE DHA 423
    Length:423
    Mass (Da):48,344
    Last modified:October 3, 2006 - v3
    Checksum:i3431A30B83A1E2B4
    GO
    Isoform 2 (identifier: P11117-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         151-160: LLKFPLGPCP → VRVASPSLGW
         161-423: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:160
    Mass (Da):18,417
    Checksum:i18EA6F3F31278714
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti29 – 291R → Q.2 Publications
    Corresponds to variant rs2167079 [ dbSNP | Ensembl ].
    VAR_027801
    Natural varianti320 – 3201S → F.
    Corresponds to variant rs34425282 [ dbSNP | Ensembl ].
    VAR_034394
    Natural varianti402 – 4021V → I.
    Corresponds to variant rs4647764 [ dbSNP | Ensembl ].
    VAR_050519

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei151 – 16010LLKFPLGPCP → VRVASPSLGW in isoform 2. 1 PublicationVSP_045629
    Alternative sequencei161 – 423263Missing in isoform 2. 1 PublicationVSP_045630Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X12548 mRNA. Translation: CAA31064.1.
    X15525
    , X15526, X15527, X15528, X15529, X15530, X15531, X15532, X15533, X15534, X15535 Genomic DNA. Translation: CAA33542.1.
    DA382854 mRNA. No translation available.
    AC018410 Genomic DNA. No translation available.
    BC003160 mRNA. Translation: AAH03160.1.
    BC093010 mRNA. Translation: AAH93010.1.
    CCDSiCCDS44583.1. [P11117-2]
    CCDS7928.1. [P11117-1]
    PIRiS06167.
    RefSeqiNP_001124536.1. NM_001131064.1. [P11117-2]
    NP_001601.1. NM_001610.2. [P11117-1]
    UniGeneiHs.532492.

    Genome annotation databases

    EnsembliENST00000256997; ENSP00000256997; ENSG00000134575. [P11117-1]
    ENST00000444355; ENSP00000414911; ENSG00000134575. [P11117-2]
    GeneIDi53.
    KEGGihsa:53.
    UCSCiuc001nei.3. human. [P11117-1]

    Polymorphism databases

    DMDMi115502439.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X12548 mRNA. Translation: CAA31064.1 .
    X15525
    , X15526 , X15527 , X15528 , X15529 , X15530 , X15531 , X15532 , X15533 , X15534 , X15535 Genomic DNA. Translation: CAA33542.1 .
    DA382854 mRNA. No translation available.
    AC018410 Genomic DNA. No translation available.
    BC003160 mRNA. Translation: AAH03160.1 .
    BC093010 mRNA. Translation: AAH93010.1 .
    CCDSi CCDS44583.1. [P11117-2 ]
    CCDS7928.1. [P11117-1 ]
    PIRi S06167.
    RefSeqi NP_001124536.1. NM_001131064.1. [P11117-2 ]
    NP_001601.1. NM_001610.2. [P11117-1 ]
    UniGenei Hs.532492.

    3D structure databases

    ProteinModelPortali P11117.
    SMRi P11117. Positions 31-370.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106569. 6 interactions.
    IntActi P11117. 2 interactions.
    STRINGi 9606.ENSP00000256997.

    PTM databases

    PhosphoSitei P11117.

    Polymorphism databases

    DMDMi 115502439.

    Proteomic databases

    MaxQBi P11117.
    PaxDbi P11117.
    PeptideAtlasi P11117.
    PRIDEi P11117.

    Protocols and materials databases

    DNASUi 53.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000256997 ; ENSP00000256997 ; ENSG00000134575 . [P11117-1 ]
    ENST00000444355 ; ENSP00000414911 ; ENSG00000134575 . [P11117-2 ]
    GeneIDi 53.
    KEGGi hsa:53.
    UCSCi uc001nei.3. human. [P11117-1 ]

    Organism-specific databases

    CTDi 53.
    GeneCardsi GC11M047260.
    HGNCi HGNC:123. ACP2.
    MIMi 171650. gene.
    200950. phenotype.
    neXtProti NX_P11117.
    Orphaneti 35121. Acid phosphatase deficiency.
    PharmGKBi PA24447.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85977.
    HOGENOMi HOG000231439.
    HOVERGENi HBG002203.
    InParanoidi P11117.
    KOi K14410.
    OMAi QDFLHLT.
    OrthoDBi EOG7GXPBJ.
    PhylomeDBi P11117.
    TreeFami TF312893.

    Miscellaneous databases

    GeneWikii ACP2.
    GenomeRNAii 53.
    NextBioi 213.
    PROi P11117.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P11117.
    Bgeei P11117.
    CleanExi HS_ACP2.
    Genevestigatori P11117.

    Family and domain databases

    Gene3Di 3.40.50.1240. 1 hit.
    InterProi IPR000560. His_Pase_superF_clade-2.
    IPR029033. His_PPase_superfam.
    [Graphical view ]
    Pfami PF00328. His_Phos_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53254. SSF53254. 1 hit.
    PROSITEi PS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
    PS00778. HIS_ACID_PHOSPHAT_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment."
      Pohlmann R., Krentler C., Schmidt B., Schroeder W., Lorkowski G., Culley J., Mersmann G., Geier C., Waheed A., Gottschalk S., Grzeschik K.H., Hasikik A., von Figura K.
      EMBO J. 7:2343-2350(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
      Tissue: Placenta.
    2. "Structure of the human lysosomal acid phosphatase gene."
      Geier C., von Figura K., Pohlmann R.
      Eur. J. Biochem. 183:611-616(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Leukocyte.
    3. "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 2), VARIANT GLN-29.
      Tissue: Thalamus.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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), VARIANT GLN-29.
      Tissue: Kidney and Placenta.
    6. "Sequential processing of lysosomal acid phosphatase by a cytoplasmic thiol proteinase and a lysosomal aspartyl proteinase."
      Gottschalk S., Waheed A., Schmidt B., Laidler P., von Figura K.
      EMBO J. 8:3215-3219(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: PARTIAL PROTEIN SEQUENCE, PROTEOLYTIC PROCESSING, SUBCELLULAR LOCATION.
    7. "Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder."
      Nadler H.L., Egan T.J.
      N. Engl. J. Med. 282:302-307(1970) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    8. "Human lysosomal acid phosphatase is transported as a transmembrane protein to lysosomes in transfected baby hamster kidney cells."
      Waheed A., Gottschalk S., Hille A., Krentler C., Pohlmann R., Braulke T., Hauser H., Geuze H., von Figura K.
      EMBO J. 7:2351-2358(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, MEMBRANE TOPOLOGY, PROTEOLYTIC PROCESSING.
    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-92; ASN-133; ASN-167; ASN-177; ASN-267 AND ASN-331.
      Tissue: Liver.

    Entry informationi

    Entry nameiPPAL_HUMAN
    AccessioniPrimary (citable) accession number: P11117
    Secondary accession number(s): E9PCI1, Q561W5, Q9BTU7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 142 of the entry and version 3 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 11
      Human chromosome 11: 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