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Q5VZY2

- PPC1A_HUMAN

UniProt

Q5VZY2 - PPC1A_HUMAN

Protein

Phosphatidate phosphatase PPAPDC1A

Gene

PPAPDC1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 81 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
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    Functioni

    Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol.1 Publication

    Catalytic activityi

    A 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate.1 Publication

    Enzyme regulationi

    Inhibited by N-ethylmaleimide.1 Publication

    Kineticsi

    1. KM=104 µM for diacylglycerol pyrophosphate1 Publication
    2. KM=506 µM for phosphatidate1 Publication
    3. KM=580 µM for lysophosphatidate1 Publication

    GO - Molecular functioni

    1. phosphatidate phosphatase activity Source: UniProtKB

    GO - Biological processi

    1. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
    2. innate immune response Source: Reactome
    3. phospholipid dephosphorylation Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_160158. Role of phospholipids in phagocytosis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphatidate phosphatase PPAPDC1A (EC:3.1.3.4)
    Alternative name(s):
    Phosphatidic acid phosphatase type 2 domain-containing protein 1A
    Gene namesi
    Name:PPAPDC1A
    Synonyms:DPPL2, PPAPDC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23531. PPAPDC1A.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi109 – 1091R → A: Loss of phosphatase activity; when associated with A-146 and with A-202. 1 Publication
    Mutagenesisi146 – 1461H → A: Loss of phosphatase activity; when associated with A-109 and with A-202. 1 Publication
    Mutagenesisi202 – 2021H → A: Loss of phosphatase activity; when associated with A-109 and with A-146. 1 Publication

    Organism-specific databases

    PharmGKBiPA134907381.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 271271Phosphatidate phosphatase PPAPDC1APRO_0000286943Add
    BLAST

    Proteomic databases

    PaxDbiQ5VZY2.
    PRIDEiQ5VZY2.

    PTM databases

    PhosphoSiteiQ5VZY2.

    Expressioni

    Tissue specificityi

    Expressed mainly to the brain, kidney and testis, and to a lesser extent the bone marrow, thymus, prostate, liver and uterus.1 Publication

    Gene expression databases

    ArrayExpressiQ5VZY2.
    BgeeiQ5VZY2.
    CleanExiHS_PPAPDC1A.
    GenevestigatoriQ5VZY2.

    Organism-specific databases

    HPAiHPA045188.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000381302.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VZY2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei49 – 6921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei84 – 10421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei142 – 16221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei202 – 22221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni102 – 1109Phosphatase sequence motif I
    Regioni143 – 1464Phosphatase sequence motif II
    Regioni195 – 20511Phosphatase sequence motif IIIAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0671.
    HOGENOMiHOG000215098.
    HOVERGENiHBG056764.
    InParanoidiQ5VZY2.
    OMAiNTACHKS.
    OrthoDBiEOG79CZ0D.
    PhylomeDBiQ5VZY2.
    TreeFamiTF323722.

    Family and domain databases

    Gene3Di1.20.144.10. 1 hit.
    InterProiIPR000326. P_Acid_Pase_2/haloperoxidase.
    IPR028668. PPAPDC1A/PPAPDC1B.
    [Graphical view]
    PANTHERiPTHR10165:SF90. PTHR10165:SF90. 1 hit.
    PfamiPF01569. PAP2. 1 hit.
    [Graphical view]
    SMARTiSM00014. acidPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF48317. SSF48317. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5VZY2-1) [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

    MRELAIEIGV RALLFGVFVF TEFLDPFQRV IQPEEIWLYK NPLVQSDNIP    50
    TRLMFAISFL TPLAVICVVK IIRRTDKTEI KEAFLAVSLA LALNGVCTNT 100
    IKLIVGRPRP DFFYRCFPDG VMNSEMHCTG DPDLVSEGRK SFPSIHSSFA 150
    FSGLGFTTFY LAGKLHCFTE SGRGKSWRLC AAILPLYCAM MIALSRMCDY 200
    KHHWQDSFVG GVIGLIFAYI CYRQHYPPLA NTACHKPYVS LRVPASLKKE 250
    ERPTADSAPS LPLEGITEGP V 271
    Length:271
    Mass (Da):30,395
    Last modified:May 15, 2007 - v2
    Checksum:iC534549E44DDB9A1
    GO
    Isoform 2 (identifier: Q5VZY2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         86-149: AVSLALALNGVCTNTIKLIVGRPRPDFFYRCFPDGVMNSEMHCTGDPDLVSEGRKSFPSIHSSF → V

    Note: No experimental confirmation available.

    Show »
    Length:208
    Mass (Da):23,509
    Checksum:i9C4052029FE63D0F
    GO
    Isoform 3 (identifier: Q5VZY2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-189: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:82
    Mass (Da):9,175
    Checksum:iA228474E1B007DBA
    GO
    Isoform 4 (identifier: Q5VZY2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         56-96: AISFLTPLAV...VSLALALNGV → IPLWVESSAS...PTLVCESQPH
         97-271: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:96
    Mass (Da):11,089
    Checksum:iDE39DF5B00D26259
    GO

    Sequence cautioni

    The sequence CAH70333.1 differs from that shown. Reason: Erroneous gene model prediction.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 189189Missing in isoform 3. 1 PublicationVSP_025237Add
    BLAST
    Alternative sequencei56 – 9641AISFL…ALNGV → IPLWVESSASFLHTFATDST ILLWPTQLAINPTLVCESQP H in isoform 4. 1 PublicationVSP_025239Add
    BLAST
    Alternative sequencei86 – 14964AVSLA…IHSSF → V in isoform 2. 1 PublicationVSP_025238Add
    BLAST
    Alternative sequencei97 – 271175Missing in isoform 4. 1 PublicationVSP_025240Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BD418666 mRNA. No translation available.
    AL157782, AC073587, AC023282 Genomic DNA. Translation: CAH70332.1. Different termination.
    AL157782, AC023282, AC073587 Genomic DNA. Translation: CAH70333.1. Sequence problems.
    BC101267 mRNA. Translation: AAI01268.1.
    BC101268 mRNA. Translation: AAI01269.1.
    BC101269 mRNA. Translation: AAI01270.1.
    BC122535 mRNA. Translation: AAI22536.1.
    BC132787 mRNA. Translation: AAI32788.1.
    CCDSiCCDS41573.1. [Q5VZY2-1]
    RefSeqiNP_001025230.1. NM_001030059.1. [Q5VZY2-1]
    UniGeneiHs.40479.

    Genome annotation databases

    EnsembliENST00000398250; ENSP00000381302; ENSG00000203805. [Q5VZY2-1]
    GeneIDi196051.
    KEGGihsa:196051.
    UCSCiuc001lev.1. human. [Q5VZY2-1]
    uc001lew.1. human. [Q5VZY2-4]
    uc009xzl.1. human. [Q5VZY2-2]

    Polymorphism databases

    DMDMi147721098.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BD418666 mRNA. No translation available.
    AL157782 , AC073587 , AC023282 Genomic DNA. Translation: CAH70332.1 . Different termination.
    AL157782 , AC023282 , AC073587 Genomic DNA. Translation: CAH70333.1 . Sequence problems.
    BC101267 mRNA. Translation: AAI01268.1 .
    BC101268 mRNA. Translation: AAI01269.1 .
    BC101269 mRNA. Translation: AAI01270.1 .
    BC122535 mRNA. Translation: AAI22536.1 .
    BC132787 mRNA. Translation: AAI32788.1 .
    CCDSi CCDS41573.1. [Q5VZY2-1 ]
    RefSeqi NP_001025230.1. NM_001030059.1. [Q5VZY2-1 ]
    UniGenei Hs.40479.

    3D structure databases

    ProteinModelPortali Q5VZY2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000381302.

    PTM databases

    PhosphoSitei Q5VZY2.

    Polymorphism databases

    DMDMi 147721098.

    Proteomic databases

    PaxDbi Q5VZY2.
    PRIDEi Q5VZY2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000398250 ; ENSP00000381302 ; ENSG00000203805 . [Q5VZY2-1 ]
    GeneIDi 196051.
    KEGGi hsa:196051.
    UCSCi uc001lev.1. human. [Q5VZY2-1 ]
    uc001lew.1. human. [Q5VZY2-4 ]
    uc009xzl.1. human. [Q5VZY2-2 ]

    Organism-specific databases

    CTDi 196051.
    GeneCardsi GC10P122207.
    HGNCi HGNC:23531. PPAPDC1A.
    HPAi HPA045188.
    neXtProti NX_Q5VZY2.
    PharmGKBi PA134907381.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0671.
    HOGENOMi HOG000215098.
    HOVERGENi HBG056764.
    InParanoidi Q5VZY2.
    OMAi NTACHKS.
    OrthoDBi EOG79CZ0D.
    PhylomeDBi Q5VZY2.
    TreeFami TF323722.

    Enzyme and pathway databases

    Reactomei REACT_160158. Role of phospholipids in phagocytosis.

    Miscellaneous databases

    GeneWikii PPAPDC1A.
    GenomeRNAii 196051.
    NextBioi 89410.
    PROi Q5VZY2.

    Gene expression databases

    ArrayExpressi Q5VZY2.
    Bgeei Q5VZY2.
    CleanExi HS_PPAPDC1A.
    Genevestigatori Q5VZY2.

    Family and domain databases

    Gene3Di 1.20.144.10. 1 hit.
    InterProi IPR000326. P_Acid_Pase_2/haloperoxidase.
    IPR028668. PPAPDC1A/PPAPDC1B.
    [Graphical view ]
    PANTHERi PTHR10165:SF90. PTHR10165:SF90. 1 hit.
    Pfami PF01569. PAP2. 1 hit.
    [Graphical view ]
    SMARTi SM00014. acidPPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48317. SSF48317. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of DPPL1 and DPPL2, representatives of a novel type of mammalian phosphatidate phosphatase."
      Takeuchi M., Harigai M., Momohara S., Ball E., Abe J., Furuichi K., Kamatani N.
      Gene 399:174-180(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, TISSUE SPECIFICITY, ENZYME REGULATION, CATALYTIC ACTIVITY, REGION, MUTAGENESIS OF ARG-109; HIS-146 AND HIS-202, BIOPHYSICOCHEMICAL PROPERTIES.
    2. "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].
    3. "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] (ISOFORMS 1; 2; 3 AND 4).
      Tissue: Brain.

    Entry informationi

    Entry nameiPPC1A_HUMAN
    AccessioniPrimary (citable) accession number: Q5VZY2
    Secondary accession number(s): A2RU82
    , Q08EQ2, Q0IIP2, Q495B4, Q5VZY1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 15, 2007
    Last modified: October 1, 2014
    This is version 81 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, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3