Reviewed,
UniProtKB/Swiss-Prot Q13393 (PLD1_HUMAN)
Last modified
June 16, 2009.
Version 91.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Phospholipase D1 Short name=PLD 1 Short name=hPLD1 EC=3.1.4.4 Alternative name(s): Choline phosphatase 1 Phosphatidylcholine-hydrolyzing phospholipase D1 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1074 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic By similarity. |
| Catalytic activity | A phosphatidylcholine + H2O = choline + a phosphatidate. |
| Enzyme regulation | Stimulated by phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate, activated by the phosphokinase C-alpha, by the ADP-ribosylation factor-1 (ARF-1), and to a lesser extent by GTP-binding proteins: RHO A, RAC-1 and CDC42. Inhibited by oleate. |
| Subunit structure | Interacts with PIP5K1A. Ref.7 |
| Subcellular location | Cytoplasm › perinuclear region By similarity. Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side By similarity. Golgi apparatus membrane; Lipid-anchor; Cytoplasmic side By similarity. Late endosome membrane; Lipid-anchor; Cytoplasmic side By similarity. |
| Tissue specificity | Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine. Ref.6 |
| Sequence similarities | Belongs to the phospholipase D family. Contains 1 PH domain. Contains 2 PLD phosphodiesterase domains. Contains 1 PX (phox homology) domain. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform PLD1A (identifier: Q13393-1) 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. | ||||||
| Isoform PLD1B (identifier: Q13393-2) The sequence of this isoform differs from the canonical sequence as follows: 585-623: SYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHAD → N | ||||||
| Isoform PLD1C (identifier: Q13393-3) The sequence of this isoform differs from the canonical sequence as follows: 514-597: PAAMESMESL...NHYRSHHNLI → IPGPSVVYRQ...SSSAGTSQKL 598-1074: Missing. | ||||||
| Isoform PLD1D (identifier: Q13393-4) The sequence of this isoform differs from the canonical sequence as follows: 962-971: VVLGYLDDPS → SKMTPGVEDP 972-1074: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1074 | 1074 | Phospholipase D1 | PRO_0000218802 | |||||
Regions | |||||||||
| Domain | 81 – 212 | 132 | PX | ||||||
| Domain | 219 – 328 | 110 | PH | ||||||
| Domain | 459 – 486 | 28 | PLD phosphodiesterase 1 | ||||||
| Domain | 891 – 918 | 28 | PLD phosphodiesterase 2 | ||||||
| Region | 463 – 928 | 466 | Catalytic | ||||||
Amino acid modifications | |||||||||
| Modified residue | 629 | 1 | Phosphoserine Ref.8 | ||||||
| Lipidation | 240 | 1 | S-palmitoyl cysteine By similarity | ||||||
| Lipidation | 241 | 1 | S-palmitoyl cysteine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 514 – 597 | 84 | PAAME…HHNLI → IPGPSVVYRQVWESCMGKPD SGMERTTAISSSKTGFNLIN LLLISLTGTPRPGCPGMTLP LQSTGRRLVMWHVTSSSAGT SQKL in isoform PLD1C. | VSP_005018 | |||||
| Alternative sequence | 585 – 623 | 39 | SYFNH…RPHAD → N in isoform PLD1B. | VSP_005020 | |||||
| Alternative sequence | 598 – 1074 | 477 | Missing in isoform PLD1C. | VSP_005019 | |||||
| Alternative sequence | 962 – 971 | 10 | VVLGYLDDPS → SKMTPGVEDP in isoform PLD1D. | VSP_005021 | |||||
| Alternative sequence | 972 – 1074 | 103 | Missing in isoform PLD1D. | VSP_005022 | |||||
| Natural variant | 49 | 1 | P → A: dbSNP rs9819927. | VAR_034387 | |||||
| Natural variant | 622 | 1 | A → S: dbSNP rs2290480. | VAR_022056 | |||||
| Natural variant | 820 | 1 | V → M: dbSNP rs2287579. | VAR_022057 | |||||
| Natural variant | 1024 | 1 | V → I: dbSNP rs9827333. | VAR_051703 | |||||
Experimental info | |||||||||
| Sequence conflict | 832 | 1 | S → P in CAB76564. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human ADP-ribosylation factor-activated phosphatidylcholine-specific phospholipase D defines a new and highly conserved gene family." Hammond S.M., Altshuller Y.M., Sung T.-C., Rudge S.A., Rose K., Engebrecht J., Morris A.J., Frohman M.A. J. Biol. Chem. 270:29640-29643(1995) [PubMed: 8530346] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PLD1A). |
| [2] | "Characterization of two alternately spliced forms of phospholipase D1. Activation of the purified enzymes by phosphatidylinositol 4,5-bisphosphate, ADP-ribosylation factor, and Rho family monomeric GTP-binding proteins and protein kinase C-alpha." Hammond S.M., Jenco J.M., Nakashima S., Cadwallader K., Gu Q.-M., Cook S., Nozawa Y., Prestwich G.D., Frohman M.A., Morris A.J. J. Biol. Chem. 272:3860-3868(1997) [PubMed: 9013646] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PLD1A AND PLD1B). |
| [3] | "Characterization of human PLD2 and the analysis of PLD isoform splice variants." Steed P.M., Clark K.L., Boyar W.C., Lasala D.J. FASEB J. 12:1309-1317(1998) [PubMed: 9761774] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PLD1A; PLD1B AND PLD1C). Tissue: Brain, Cervix carcinoma, Chondrocyte and Skeletal muscle. |
| [4] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PLD1A). Tissue: Testis. |
| [5] | "A novel human phospholipase D1 splice variant displays conserved regulation in vitro but altered localisation in vivo." Hughes W.E., Parker P.J. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 739-1074 (ISOFORM PLD1D). |
| [6] | "Cloning and initial characterization of a human phospholipase D2 (hPLD2). ADP-ribosylation factor regulates hPLD2." Lopez I., Arnold R.S., Lambeth J.D. J. Biol. Chem. 273:12846-12852(1998) [PubMed: 9582313] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [7] | "Interaction of the type Ialpha PIPkinase with phospholipase D: a role for the local generation of phosphatidylinositol 4, 5-bisphosphate in the regulation of PLD2 activity." Divecha N., Roefs M., Halstead J.R., D'Andrea S., Fernandez-Borga M., Oomen L., Saqib K.M., Wakelam M.J.O., D'Santos C. EMBO J. 19:5440-5449(2000) [PubMed: 11032811] [Abstract] Cited for: INTERACTION WITH PIP5K1A. |
| [8] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-629, MASS SPECTROMETRY. Tissue: Epithelium. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U38545 mRNA. Translation: AAB49031.1. BC068976 mRNA. Translation: AAH68976.1. AJ276230 mRNA. Translation: CAB76564.1. | |
| IPI | IPI00012865. IPI00218797. IPI00218798. IPI00218799. |
| RefSeq | NP_002653.1. |
| UniGene | Hs.382865 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q13393. |
Proteomic databases | |
| PRIDE | Q13393. |
Genome annotation databases | |
| Ensembl | ENSG00000075651. Homo sapiens. [Contig view] |
| GeneID | 5337. |
Organism-specific databases | |
| GeneCards | GC03M172801. |
| H-InvDB | HIX0003855. |
| HGNC | HGNC:9067. PLD1. |
| HPA | CAB004527. |
| MIM | 602382. gene. |
| PharmGKB | PA142672076. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q13393. |
| HOVERGEN | Q13393. |
| OMA | Q13393. GRWDDSE. |
Enzyme and pathway databases | |
| BRENDA | 3.1.4.4. 247. |
| Pathway_Interaction_DB | alphasynuclein_pathway. Alpha-synuclein signaling. arf6downstreampathway. Arf6 downstream pathway. arf6_traffickingpathway. Arf6 trafficking events. |
Gene expression databases | |
| ArrayExpress | Q13393. |
| Bgee | Q13393. |
| CleanEx | HS_PLD1. |
| GermOnline | ENSG00000075651. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011993. PH_type. IPR015679. Phospholipase_D. IPR001849. Pleckstrin_homology. IPR001736. PLipase_D/transphosphatidylase. IPR016555. PLipase_D_euk. IPR001683. PX. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:3.30.1520.10. PX. 1 hit. |
| PANTHER | PTHR18896. Phospholipase_D. 1 hit. |
| Pfam | PF00169. PH. 1 hit. PF00614. PLDc. 2 hits. PF00787. PX. 1 hit. [Graphical view] |
| PIRSF | PIRSF009376. Phospholipase_D_euk. 1 hit. |
| SMART | SM00233. PH. 1 hit. SM00155. PLDc. 2 hits. SM00312. PX. 1 hit. [Graphical view] |
| PROSITE | PS50003. PH_DOMAIN. False negative. PS50035. PLD. 2 hits. PS50195. PX. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00122. Choline. |
| NextBio | 20672. |
| SOURCE | Search... |
Entry information
| Entry name | PLD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13393 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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