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Protein

Phospholipase D1

Gene

PLD1

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

Functioni

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).By similarity

Catalytic activityi

A phosphatidylcholine + H2O = choline + a phosphatidate.

Enzyme regulationi

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.

GO - Molecular functioni

GO - Biological processi

  • cell motility Source: GO_Central
  • chemotaxis Source: ProtInc
  • lipid catabolic process Source: UniProtKB-KW
  • neutrophil degranulation Source: Reactome
  • phosphatidic acid biosynthetic process Source: Reactome
  • Ras protein signal transduction Source: ProtInc
  • regulation of microvillus assembly Source: UniProtKB
  • small GTPase mediated signal transduction Source: ProtInc

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS01185-MONOMER.
BRENDAi3.1.4.4. 2681.
ReactomeiR-HSA-1483148. Synthesis of PG.
R-HSA-1483166. Synthesis of PA.
R-HSA-2029485. Role of phospholipids in phagocytosis.
R-HSA-6798695. Neutrophil degranulation.
SignaLinkiQ13393.
SIGNORiQ13393.

Chemistry databases

SwissLipidsiSLP:000000149.

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipase D1 (EC:3.1.4.4)
Short name:
PLD 1
Short name:
hPLD1
Alternative name(s):
Choline phosphatase 1
Phosphatidylcholine-hydrolyzing phospholipase D1
Gene namesi
Name:PLD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000075651.15.
HGNCiHGNC:9067. PLD1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cardiac valvular defect, developmental (CVDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.
See also OMIM:212093
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078985442H → P in CVDD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5337.
MIMi212093. phenotype.
OpenTargetsiENSG00000075651.
PharmGKBiPA164742228.

Chemistry databases

ChEMBLiCHEMBL2536.
DrugBankiDB00122. Choline.
DB05301. LAX-101.
DB09031. Miltefosine.
GuidetoPHARMACOLOGYi1433.

Polymorphism and mutation databases

BioMutaiPLD1.
DMDMi2499703.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002188021 – 1074Phospholipase D1Add BLAST1074

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi240S-palmitoyl cysteineBy similarity1
Lipidationi241S-palmitoyl cysteineBy similarity1
Modified residuei499PhosphoserineBy similarity1
Modified residuei561PhosphoserineCombined sources1
Modified residuei629PhosphoserineCombined sources1

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ13393.
MaxQBiQ13393.
PaxDbiQ13393.
PeptideAtlasiQ13393.
PRIDEiQ13393.
TopDownProteomicsiQ13393-2. [Q13393-2]

PTM databases

iPTMnetiQ13393.
PhosphoSitePlusiQ13393.
SwissPalmiQ13393.

Expressioni

Tissue specificityi

Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000075651.
CleanExiHS_PLD1.
ExpressionAtlasiQ13393. baseline and differential.
GenevisibleiQ13393. HS.

Organism-specific databases

HPAiCAB004527.
HPA042396.

Interactioni

Subunit structurei

Interacts with PIP5K1B.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi111353. 44 interactors.
CORUMiQ13393.
DIPiDIP-40821N.
IntActiQ13393. 14 interactors.
MINTiMINT-141519.
STRINGi9606.ENSP00000342793.

Chemistry databases

BindingDBiQ13393.

Structurei

3D structure databases

ProteinModelPortaliQ13393.
SMRiQ13393.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini81 – 212PXPROSITE-ProRule annotationAdd BLAST132
Domaini219 – 328PHAdd BLAST110
Domaini459 – 486PLD phosphodiesterase 1PROSITE-ProRule annotationAdd BLAST28
Domaini891 – 918PLD phosphodiesterase 2PROSITE-ProRule annotationAdd BLAST28

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni463 – 928CatalyticAdd BLAST466

Sequence similaritiesi

Belongs to the phospholipase D family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1329. Eukaryota.
COG1502. LUCA.
GeneTreeiENSGT00390000008356.
HOGENOMiHOG000246972.
HOVERGENiHBG006650.
InParanoidiQ13393.
KOiK01115.
OMAiRDFINKP.
OrthoDBiEOG091G017Y.
PhylomeDBiQ13393.
TreeFamiTF300589.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.30.1520.10. 1 hit.
InterProiView protein in InterPro
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR001683. Phox.
IPR025202. PLD-like_dom.
IPR001736. PLipase_D/transphosphatidylase.
IPR016555. PLipase_D_euk.
IPR015679. PLipase_D_fam.
PANTHERiPTHR18896. PTHR18896. 1 hit.
PfamiView protein in Pfam
PF00169. PH. 1 hit.
PF00614. PLDc. 1 hit.
PF13091. PLDc_2. 1 hit.
PF00787. PX. 1 hit.
PIRSFiPIRSF009376. Phospholipase_D_euk. 1 hit.
SMARTiView protein in SMART
SM00233. PH. 1 hit.
SM00155. PLDc. 2 hits.
SM00312. PX. 1 hit.
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF64268. SSF64268. 1 hit.
PROSITEiView protein in PROSITE
PS50035. PLD. 2 hits.
PS50195. PX. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform PLD1A (identifier: Q13393-1) [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

        10         20         30         40         50
MSLKNEPRVN TSALQKIAAD MSNIIENLDT RELHFEGEEV DYDVSPSDPK
60 70 80 90 100
IQEVYIPFSA IYNTQGFKEP NIQTYLSGCP IKAQVLEVER FTSTTRVPSI
110 120 130 140 150
NLYTIELTHG EFKWQVKRKF KHFQEFHREL LKYKAFIRIP IPTRRHTFRR
160 170 180 190 200
QNVREEPREM PSLPRSSENM IREEQFLGRR KQLEDYLTKI LKMPMYRNYH
210 220 230 240 250
ATTEFLDISQ LSFIHDLGPK GIEGMIMKRS GGHRIPGLNC CGQGRACYRW
260 270 280 290 300
SKRWLIVKDS FLLYMKPDSG AIAFVLLVDK EFKIKVGKKE TETKYGIRID
310 320 330 340 350
NLSRTLILKC NSYRHARWWG GAIEEFIQKH GTNFLKDHRF GSYAAIQENA
360 370 380 390 400
LAKWYVNAKG YFEDVANAME EANEEIFITD WWLSPEIFLK RPVVEGNRWR
410 420 430 440 450
LDCILKRKAQ QGVRIFIMLY KEVELALGIN SEYTKRTLMR LHPNIKVMRH
460 470 480 490 500
PDHVSSTVYL WAHHEKLVII DQSVAFVGGI DLAYGRWDDN EHRLTDVGSV
510 520 530 540 550
KRVTSGPSLG SLPPAAMESM ESLRLKDKNE PVQNLPIQKS IDDVDSKLKG
560 570 580 590 600
IGKPRKFSKF SLYKQLHRHH LHDADSISSI DSTSSYFNHY RSHHNLIHGL
610 620 630 640 650
KPHFKLFHPS SESEQGLTRP HADTGSIRSL QTGVGELHGE TRFWHGKDYC
660 670 680 690 700
NFVFKDWVQL DKPFADFIDR YSTPRMPWHD IASAVHGKAA RDVARHFIQR
710 720 730 740 750
WNFTKIMKSK YRSLSYPFLL PKSQTTAHEL RYQVPGSVHA NVQLLRSAAD
760 770 780 790 800
WSAGIKYHEE SIHAAYVHVI ENSRHYIYIE NQFFISCADD KVVFNKIGDA
810 820 830 840 850
IAQRILKAHR ENQKYRVYVV IPLLPGFEGD ISTGGGNALQ AIMHFNYRTM
860 870 880 890 900
CRGENSILGQ LKAELGNQWI NYISFCGLRT HAELEGNLVT ELIYVHSKLL
910 920 930 940 950
IADDNTVIIG SANINDRSML GKRDSEMAVI VQDTETVPSV MDGKEYQAGR
960 970 980 990 1000
FARGLRLQCF RVVLGYLDDP SEDIQDPVSD KFFKEVWVST AARNATIYDK
1010 1020 1030 1040 1050
VFRCLPNDEV HNLIQLRDFI NKPVLAKEDP IRAEEELKKI RGFLVQFPFY
1060 1070
FLSEESLLPS VGTKEAIVPM EVWT
Length:1,074
Mass (Da):124,184
Last modified:November 1, 1997 - v1
Checksum:i734F285790A0BF7A
GO
Isoform PLD1B (identifier: Q13393-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-623: SYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHAD → N

Show »
Length:1,036
Mass (Da):119,693
Checksum:i7AFA088570479777
GO
Isoform PLD1C (identifier: Q13393-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     514-597: PAAMESMESL...NHYRSHHNLI → IPGPSVVYRQ...SSSAGTSQKL
     598-1074: Missing.

Show »
Length:597
Mass (Da):68,898
Checksum:iBA03FFD5DD72AED7
GO
Isoform PLD1D (identifier: Q13393-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     962-971: VVLGYLDDPS → SKMTPGVEDP
     972-1074: Missing.

Show »
Length:971
Mass (Da):112,184
Checksum:i0B7F963953A48ECC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti832S → P in CAB76564 (PubMed:9761774).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03438749P → A. Corresponds to variant dbSNP:rs9819927Ensembl.1
Natural variantiVAR_078985442H → P in CVDD. 1 Publication1
Natural variantiVAR_022056622A → S. Corresponds to variant dbSNP:rs2290480Ensembl.1
Natural variantiVAR_022057820V → M. Corresponds to variant dbSNP:rs2287579Ensembl.1
Natural variantiVAR_0517031024V → I. Corresponds to variant dbSNP:rs9827333Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005018514 – 597PAAME…HHNLI → IPGPSVVYRQVWESCMGKPD SGMERTTAISSSKTGFNLIN LLLISLTGTPRPGCPGMTLP LQSTGRRLVMWHVTSSSAGT SQKL in isoform PLD1C. 1 PublicationAdd BLAST84
Alternative sequenceiVSP_005020585 – 623SYFNH…RPHAD → N in isoform PLD1B. 2 PublicationsAdd BLAST39
Alternative sequenceiVSP_005019598 – 1074Missing in isoform PLD1C. 1 PublicationAdd BLAST477
Alternative sequenceiVSP_005021962 – 971VVLGYLDDPS → SKMTPGVEDP in isoform PLD1D. 1 Publication10
Alternative sequenceiVSP_005022972 – 1074Missing in isoform PLD1D. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U38545 mRNA. Translation: AAB49031.1.
BC068976 mRNA. Translation: AAH68976.1.
AJ276230 mRNA. Translation: CAB76564.1.
CCDSiCCDS3216.1. [Q13393-1]
CCDS46957.1. [Q13393-2]
RefSeqiNP_002653.1. NM_002662.4. [Q13393-1]
XP_005247590.1. XM_005247533.2. [Q13393-1]
XP_005247591.1. XM_005247534.2. [Q13393-2]
XP_011511199.1. XM_011512897.1. [Q13393-4]
UniGeneiHs.382865.
Hs.732969.

Genome annotation databases

EnsembliENST00000351298; ENSP00000342793; ENSG00000075651. [Q13393-1]
ENST00000356327; ENSP00000348681; ENSG00000075651. [Q13393-2]
GeneIDi5337.
KEGGihsa:5337.
UCSCiuc003fhs.4. human. [Q13393-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLD1_HUMAN
AccessioniPrimary (citable) accession number: Q13393
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 27, 2017
This is version 176 of the entry and version 1 of the sequence. See 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 3
    Human chromosome 3: 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