Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P51178 (PLCD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1

EC=3.1.4.11
Alternative name(s):
Phosphoinositide phospholipase C-delta-1
Phospholipase C-III
Short name=PLC-III
Phospholipase C-delta-1
Short name=PLC-delta-1
Gene names
Name:PLCD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length756 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development.

Catalytic activity

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.

Cofactor

Binds 3 calcium ions per subunit. Two of the calcium ions are bound to the C2 domain By similarity.

Involvement in disease

Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]: A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 C2 domain.

Contains 2 EF-hand domains.

Contains 1 PH domain.

Contains 1 PI-PLC X-box domain.

Contains 1 PI-PLC Y-box domain.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
   LigandCalcium
Metal-binding
   Molecular functionHydrolase
Transducer
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from electronic annotation. Source: Ensembl

inositol phosphate metabolic process

Traceable author statement. Source: Reactome

intracellular signal transduction

Inferred from electronic annotation. Source: InterPro

labyrinthine layer blood vessel development

Inferred from electronic annotation. Source: Ensembl

lipid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

phospholipid metabolic process

Traceable author statement PubMed 9588182. Source: ProtInc

regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 15702972. Source: MGI

cytosol

Inferred from electronic annotation. Source: Ensembl

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 23376485. Source: UniProt

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionGTPase activating protein binding

Inferred from physical interaction PubMed 18434237. Source: BHF-UCL

calcium ion binding

Inferred from electronic annotation. Source: InterPro

phosphatidylinositol phospholipase C activity

Traceable author statement PubMed 9588182. Source: ProtInc

signal transducer activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P51178-1)

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 2 (identifier: P51178-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MDSGRDFLTLH → MQCLGIRSRSRSRELYLQERSLKVAALNGRRL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 7567561-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
PRO_0000088504

Regions

Domain21 – 130110PH
Domain140 – 17536EF-hand 1
Domain176 – 21136EF-hand 2
Domain296 – 440145PI-PLC X-box
Domain492 – 609118PI-PLC Y-box
Domain616 – 720105C2
Calcium binding153 – 164121 Potential
Calcium binding189 – 200122 Potential
Region30 – 5728Substrate binding By similarity

Sites

Active site3111 By similarity
Active site3561 By similarity
Metal binding3121Calcium 1; catalytic By similarity
Metal binding3411Calcium 1; catalytic By similarity
Metal binding3431Calcium 1; catalytic By similarity
Metal binding3901Calcium 1; catalytic By similarity
Metal binding6511Calcium 2; via carbonyl oxygen By similarity
Metal binding6531Calcium 2 By similarity
Metal binding6771Calcium 2 By similarity
Metal binding7061Calcium 3 By similarity
Metal binding7071Calcium 3; via carbonyl oxygen By similarity
Metal binding7081Calcium 3 By similarity
Binding site4381Substrate By similarity
Binding site4401Substrate By similarity
Binding site5221Substrate By similarity
Binding site5491Substrate By similarity

Natural variations

Alternative sequence1 – 1111MDSGRDFLTLH → MQCLGIRSRSRSRELYLQER SLKVAALNGRRL in isoform 2.
VSP_042919
Natural variant2091T → R in NDNC3. Ref.6
VAR_066399
Natural variant2571R → H.
Corresponds to variant rs933135 [ dbSNP | Ensembl ].
VAR_046560
Natural variant5741I → T in NDNC3. Ref.6
VAR_066400

Experimental info

Sequence conflict2241S → P in AAA73567. Ref.1
Sequence conflict2641A → T in AAA73567. Ref.1
Sequence conflict5911G → D in AAA73567. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 23, 2008. Version 2.
Checksum: 6C6FD7F89BA08C83

FASTA75685,665
        10         20         30         40         50         60 
MDSGRDFLTL HGLQDDEDLQ ALLKGSQLLK VKSSSWRRER FYKLQEDCKT IWQESRKVMR 

        70         80         90        100        110        120 
TPESQLFSIE DIQEVRMGHR TEGLEKFARD VPEDRCFSIV FKDQRNTLDL IAPSPADAQH 

       130        140        150        160        170        180 
WVLGLHKIIH HSGSMDQRQK LQHWIHSCLR KADKNKDNKM SFKELQNFLK ELNIQVDDSY 

       190        200        210        220        230        240 
ARKIFRECDH SQTDSLEDEE IEAFYKMLTQ RVEIDRTFAE AAGSGETLSV DQLVTFLQHQ 

       250        260        270        280        290        300 
QREEAAGPAL ALSLIERYEP SETAKAQRQM TKDGFLMYLL SADGSAFSLA HRRVYQDMGQ 

       310        320        330        340        350        360 
PLSHYLVSSS HNTYLLEDQL AGPSSTEAYI RALCKGCRCL ELDCWDGPNQ EPIIYHGYTF 

       370        380        390        400        410        420 
TSKILFCDVL RAIRDYAFKA SPYPVILSLE NHCTLEQQRV MARHLHAILG PMLLNRPLDG 

       430        440        450        460        470        480 
VTNSLPSPEQ LKGKILLKGK KLGGLLPPGG EGGPEATVVS DEDEAAEMED EAVRSRVQHK 

       490        500        510        520        530        540 
PKEDKLRLAQ ELSDMVIYCK SVHFGGFSSP GTPGQAFYEM ASFSENRALR LLQESGNGFV 

       550        560        570        580        590        600 
RHNVGHLSRI YPAGWRTDSS NYSPVEMWNG GCQIVALNFQ TPGPEMDVYQ GRFQDNGACG 

       610        620        630        640        650        660 
YVLKPAFLRD PNGTFNPRAL AQGPWWARKR LNIRVISGQQ LPKVNKNKNS IVDPKVTVEI 

       670        680        690        700        710        720 
HGVSRDVASR QTAVITNNGF NPWWDTEFAF EVVVPDLALI RFLVEDYDAS SKNDFIGQST 

       730        740        750 
IPLNSLKQGY RHVHLMSKNG DQHPSATLFV KISLQD 

« Hide

Isoform 2 [UniParc].

Checksum: 6260C76BE397266B
Show »

FASTA77788,135

References

« Hide 'large scale' references
[1]"Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis."
Cheng H.F., Jiang M.J., Chen C.L., Liu S.M., Wong L.P., Lomasney J.W., King K.
J. Biol. Chem. 270:5495-5505(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Aorta.
[2]"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. expand/collapse author list , 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).
Tissue: Amygdala.
[3]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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).
Tissue: Brain.
[6]"Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1."
Kiuru M., Kurban M., Itoh M., Petukhova L., Shimomura Y., Wajid M., Christiano A.M.
Am. J. Hum. Genet. 88:839-844(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NDNC3 ARG-209 AND THR-574.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U09117 mRNA. Translation: AAA73567.1.
AK090774 mRNA. Translation: BAG52226.1.
AC144536 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64507.1.
BC050382 mRNA. Translation: AAH50382.2.
CCDSCCDS2671.1. [P51178-1]
CCDS46793.1. [P51178-2]
PIRA55943.
RefSeqNP_001124436.1. NM_001130964.1. [P51178-2]
NP_006216.2. NM_006225.3. [P51178-1]
UniGeneHs.80776.

3D structure databases

ProteinModelPortalP51178.
SMRP51178. Positions 12-130, 158-756.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111349. 6 interactions.
IntActP51178. 1 interaction.
MINTMINT-107564.
STRING9606.ENSP00000409572.

Chemistry

BindingDBP51178.
ChEMBLCHEMBL3727.

PTM databases

PhosphoSiteP51178.

Polymorphism databases

DMDM206729887.

2D gel databases

REPRODUCTION-2DPAGEIPI00746030.

Proteomic databases

MaxQBP51178.
PaxDbP51178.
PRIDEP51178.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334661; ENSP00000335600; ENSG00000187091. [P51178-1]
ENST00000463876; ENSP00000430344; ENSG00000187091. [P51178-2]
GeneID5333.
KEGGhsa:5333.
UCSCuc003chm.3. human. [P51178-2]
uc003chn.3. human. [P51178-1]

Organism-specific databases

CTD5333.
GeneCardsGC03M038023.
H-InvDBHIX0003175.
HGNCHGNC:9060. PLCD1.
HPACAB009913.
HPA020107.
HPA021677.
MIM151600. phenotype.
602142. gene.
neXtProtNX_P51178.
Orphanet2387. Leukonychia totalis.
PharmGKBPA33388.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149692.
HOGENOMHOG000006871.
HOVERGENHBG053610.
KOK05857.
OMATSGQAFY.
OrthoDBEOG7V49XT.
PhylomeDBP51178.
TreeFamTF313216.

Enzyme and pathway databases

BioCycMetaCyc:HS07195-MONOMER.
ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeP51178.
CleanExHS_PLCD1.
GenevestigatorP51178.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
2.30.29.30. 1 hit.
2.60.40.150. 1 hit.
3.20.20.190. 2 hits.
InterProIPR000008. C2_dom.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR011993. PH_like_dom.
IPR001192. PI-PLC_fam.
IPR028391. PLC-delta1.
IPR017946. PLC-like_Pdiesterase_TIM-brl.
IPR001849. Pleckstrin_homology.
IPR015359. PLipase_C_EF-hand-like.
IPR000909. PLipase_C_PInositol-sp_X_dom.
IPR001711. PLipase_C_Pinositol-sp_Y.
[Graphical view]
PANTHERPTHR10336. PTHR10336. 1 hit.
PTHR10336:SF80. PTHR10336:SF80. 1 hit.
PfamPF00168. C2. 1 hit.
PF09279. EF-hand_like. 1 hit.
PF00388. PI-PLC-X. 1 hit.
PF00387. PI-PLC-Y. 1 hit.
[Graphical view]
PRINTSPR00390. PHPHLIPASEC.
SMARTSM00239. C2. 1 hit.
SM00054. EFh. 2 hits.
SM00233. PH. 1 hit.
SM00148. PLCXc. 1 hit.
SM00149. PLCYc. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
SSF51695. SSF51695. 1 hit.
PROSITEPS50004. C2. 1 hit.
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
PS50003. PH_DOMAIN. 1 hit.
PS50007. PIPLC_X_DOMAIN. 1 hit.
PS50008. PIPLC_Y_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPLCD1.
GenomeRNAi5333.
NextBio20654.
PROP51178.
SOURCESearch...

Entry information

Entry namePLCD1_HUMAN
AccessionPrimary (citable) accession number: P51178
Secondary accession number(s): B3KR14, Q86VN8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 23, 2008
Last modified: July 9, 2014
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM