Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4

Gene

PLCB4

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

Functioni

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. This form has a role in retina signal transduction.

Catalytic activityi

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

Cofactori

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei328PROSITE-ProRule annotation1
Active sitei375PROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Transducer
Biological processLipid degradation, Lipid metabolism
LigandCalcium

Enzyme and pathway databases

BRENDAi3.1.4.11 2681
ReactomeiR-HSA-112043 PLC beta mediated events
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-416476 G alpha (q) signalling events

Names & Taxonomyi

Protein namesi
Recommended name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (EC:3.1.4.11)
Alternative name(s):
Phosphoinositide phospholipase C-beta-4
Phospholipase C-beta-4
Short name:
PLC-beta-4
Gene namesi
Name:PLCB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101333.16
HGNCiHGNC:9059 PLCB4
MIMi600810 gene
neXtProtiNX_Q15147

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

Pathology & Biotechi

Involvement in diseasei

Auriculocondylar syndrome 2 (ARCND2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
See also OMIM:614669
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068559329N → T in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs387907179EnsemblClinVar.1
Natural variantiVAR_068560621R → C in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514482EnsemblClinVar.1
Natural variantiVAR_068561621R → H in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514481EnsemblClinVar.1
Natural variantiVAR_068562623Y → C in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514480EnsemblClinVar.1
Natural variantiVAR_068563650N → H in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514483EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5332
MalaCardsiPLCB4
MIMi614669 phenotype
OpenTargetsiENSG00000101333
Orphaneti137888 Auriculocondylar syndrome
PharmGKBiPA33387

Polymorphism and mutation databases

BioMutaiPLCB4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000884952 – 11751-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4Add BLAST1174

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei886PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ15147
MaxQBiQ15147
PaxDbiQ15147
PeptideAtlasiQ15147
PRIDEiQ15147
ProteomicsDBi60459
60460 [Q15147-2]
60461 [Q15147-4]

PTM databases

iPTMnetiQ15147
PhosphoSitePlusiQ15147
SwissPalmiQ15147

Expressioni

Tissue specificityi

Preferentially expressed in the retina.

Gene expression databases

BgeeiENSG00000101333
ExpressionAtlasiQ15147 baseline and differential
GenevisibleiQ15147 HS

Organism-specific databases

HPAiHPA007951

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RELQ048643EBI-998637,EBI-307352

Protein-protein interaction databases

BioGridi111348, 3 interactors
DIPiDIP-36735N
IntActiQ15147, 5 interactors
STRINGi9606.ENSP00000334105

Structurei

3D structure databases

ProteinModelPortaliQ15147
SMRiQ15147
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini313 – 463PI-PLC X-boxPROSITE-ProRule annotationAdd BLAST151
Domaini565 – 681PI-PLC Y-boxPROSITE-ProRule annotationAdd BLAST117
Domaini688 – 786C2PROSITE-ProRule annotationAdd BLAST99

Phylogenomic databases

eggNOGiKOG0169 Eukaryota
ENOG410XPSW LUCA
GeneTreeiENSGT00760000118936
HOGENOMiHOG000232046
HOVERGENiHBG053609
InParanoidiQ15147
KOiK05858
OMAiFTYMVAE
OrthoDBiEOG091G00XL
PhylomeDBiQ15147
TreeFamiTF352235

Family and domain databases

CDDicd13361 PH_PLC_beta, 1 hit
Gene3Di2.60.40.150, 1 hit
3.20.20.190, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR011992 EF-hand-dom_pair
IPR001192 PI-PLC_fam
IPR016280 PLC-beta
IPR009535 PLC-beta_CS
IPR037862 PLC-beta_PH
IPR017946 PLC-like_Pdiesterase_TIM-brl
IPR015359 PLC_EF-hand-like
IPR000909 PLipase_C_PInositol-sp_X_dom
IPR001711 PLipase_C_Pinositol-sp_Y
PANTHERiPTHR10336 PTHR10336, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF06631 DUF1154, 1 hit
PF09279 EF-hand_like, 1 hit
PF00388 PI-PLC-X, 1 hit
PF00387 PI-PLC-Y, 1 hit
PIRSFiPIRSF000956 PLC-beta, 1 hit
PRINTSiPR00390 PHPHLIPASEC
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00148 PLCXc, 1 hit
SM00149 PLCYc, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF51695 SSF51695, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS50007 PIPLC_X_DOMAIN, 1 hit
PS50008 PIPLC_Y_DOMAIN, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Note: Additional isoforms seem to exist.
Isoform 2 (identifier: Q15147-1) [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
MAKPYEFNWQ KEVPSFLQEG AVFDRYEEES FVFEPNCLFK VDEFGFFLTW
60 70 80 90 100
RSEGKEGQVL ECSLINSIRS GAIPKDPKIL AALEAVGKSE NDLEGRIVCV
110 120 130 140 150
CSGTDLVNIS FTYMVAENPE VTKQWVEGLR SIIHNFRANN VSPMTCLKKH
160 170 180 190 200
WMKLAFMTNT NGKIPVRSIT RTFASGKTEK VIFQALKELG LPSGKNDEIE
210 220 230 240 250
PTAFSYEKFY ELTQKICPRT DIEDLFKKIN GDKTDYLTVD QLVSFLNEHQ
260 270 280 290 300
RDPRLNEILF PFYDAKRAMQ IIEMYEPDED LKKKGLISSD GFCRYLMSDE
310 320 330 340 350
NAPVFLDRLE LYQEMDHPLA HYFISSSHNT YLTGRQFGGK SSVEMYRQVL
360 370 380 390 400
LAGCRCVELD CWDGKGEDQE PIITHGKAMC TDILFKDVIQ AIKETAFVTS
410 420 430 440 450
EYPVILSFEN HCSKYQQYKM SKYCEDLFGD LLLKQALESH PLEPGRALPS
460 470 480 490 500
PNDLKRKILI KNKRLKPEVE KKQLEALRSM MEAGESASPA NILEDDNEEE
510 520 530 540 550
IESADQEEEA HPEFKFGNEL SADDLGHKEA VANSVKKGLV TVEDEQAWMA
560 570 580 590 600
SYKYVGATTN IHPYLSTMIN YAQPVKFQGF HVAEERNIHY NMSSFNESVG
610 620 630 640 650
LGYLKTHAIE FVNYNKRQMS RIYPKGGRVD SSNYMPQIFW NAGCQMVSLN
660 670 680 690 700
YQTPDLAMQL NQGKFEYNGS CGYLLKPDFM RRPDRTFDPF SETPVDGVIA
710 720 730 740 750
ATCSVQVISG QFLSDKKIGT YVEVDMYGLP TDTIRKEFRT RMVMNNGLNP
760 770 780 790 800
VYNEESFVFR KVILPDLAVL RIAVYDDNNK LIGQRILPLD GLQAGYRHIS
810 820 830 840 850
LRNEGNKPLS LPTIFCNIVL KTYVPDGFGD IVDALSDPKK FLSITEKRAD
860 870 880 890 900
QMRAMGIETS DIADVPSDTS KNDKKGKANT AKANVTPQSS SELRPTTTAA
910 920 930 940 950
LASGVEAKKG IELIPQVRIE DLKQMKAYLK HLKKQQKELN SLKKKHAKEH
960 970 980 990 1000
STMQKLHCTQ VDKIVAQYDK EKSTHEKILE KAMKKKGGSN CLEMKKETEI
1010 1020 1030 1040 1050
KIQTLTSDHK SKVKEIVAQH TKEWSEMINT HSAEEQEIRD LHLSQQCELL
1060 1070 1080 1090 1100
KKLLINAHEQ QTQQLKLSHD RESKEMRAHQ AKISMENSKA ISQDKSIKNK
1110 1120 1130 1140 1150
AERERRVREL NSSNTKKFLE ERKRLAMKQS KEMDQLKKVQ LEHLEFLEKQ
1160 1170
NEQAKEMQQM VKLEAEMDRR PATVV
Length:1,175
Mass (Da):134,464
Last modified:December 5, 2001 - v3
Checksum:iAB2C8EB99EF57357
GO
Isoform 1 (identifier: Q15147-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-153: Missing.
     154-167: LAFMTNTNGKIPVR → MNNNWNVCFFLFCP

Show »
Length:1,022
Mass (Da):117,162
Checksum:i4A6A14188161A46C
GO
Isoform 3 (identifier: Q15147-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1154-1175: AKEMQQMVKLEAEMDRRPATVV → LLKSCHAVSQTQGEGDAADGEIGSRDGPQTSNSSMKLQNAN

Note: No experimental confirmation available.
Show »
Length:1,194
Mass (Da):136,106
Checksum:iE6A0912E517D182C
GO
Isoform 4 (identifier: Q15147-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     535-535: V → VKKASDDLEHENN

Note: No experimental confirmation available.
Show »
Length:1,187
Mass (Da):135,845
Checksum:i8EC5C7445E1052AA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti447A → P in AAB02027 (PubMed:8530101).Curated1
Sequence conflicti757F → L in AAB02027 (PubMed:8530101).Curated1
Sequence conflicti787L → P in AAB02027 (PubMed:8530101).Curated1
Sequence conflicti840K → T in AAB02027 (PubMed:8530101).Curated1
Sequence conflicti902A → P in AAB02027 (PubMed:8530101).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05669421A → T1 PublicationCorresponds to variant dbSNP:rs6077510EnsemblClinVar.1
Natural variantiVAR_068559329N → T in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs387907179EnsemblClinVar.1
Natural variantiVAR_068560621R → C in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514482EnsemblClinVar.1
Natural variantiVAR_068561621R → H in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514481EnsemblClinVar.1
Natural variantiVAR_068562623Y → C in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514480EnsemblClinVar.1
Natural variantiVAR_068563650N → H in ARCND2. 1 PublicationCorresponds to variant dbSNP:rs397514483EnsemblClinVar.1
Natural variantiVAR_056695710G → S. Corresponds to variant dbSNP:rs6118603Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0047211 – 153Missing in isoform 1. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_004722154 – 167LAFMT…KIPVR → MNNNWNVCFFLFCP in isoform 1. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_055182535V → VKKASDDLEHENN in isoform 4. Curated1
Alternative sequenceiVSP_0378181154 – 1175AKEMQ…PATVV → LLKSCHAVSQTQGEGDAADG EIGSRDGPQTSNSSMKLQNA N in isoform 3. CuratedAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41349 mRNA Translation: AAB02027.1
AL121898 Genomic DNA No translation available.
AL121909 Genomic DNA No translation available.
AL023805 Genomic DNA No translation available.
AL031652 Genomic DNA No translation available.
BC117458 mRNA Translation: AAI17459.1
BC143868 mRNA Translation: AAI43869.1
CCDSiCCDS13104.1 [Q15147-4]
CCDS13105.1 [Q15147-1]
CCDS54447.1 [Q15147-5]
RefSeqiNP_000924.3, NM_000933.3 [Q15147-4]
NP_001166117.1, NM_001172646.1 [Q15147-5]
NP_877949.2, NM_182797.2 [Q15147-1]
XP_016883369.1, XM_017027880.1 [Q15147-4]
XP_016883370.1, XM_017027881.1 [Q15147-1]
UniGeneiHs.472101

Genome annotation databases

EnsembliENST00000278655; ENSP00000278655; ENSG00000101333 [Q15147-1]
ENST00000378473; ENSP00000367734; ENSG00000101333 [Q15147-5]
ENST00000378493; ENSP00000367754; ENSG00000101333 [Q15147-1]
ENST00000378501; ENSP00000367762; ENSG00000101333 [Q15147-4]
ENST00000414679; ENSP00000390616; ENSG00000101333 [Q15147-5]
GeneIDi5332
KEGGihsa:5332
UCSCiuc010gbx.4 human [Q15147-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLCB4_HUMAN
AccessioniPrimary (citable) accession number: Q15147
Secondary accession number(s): B7ZLK6
, E2QRH8, Q17R56, Q5JYS8, Q5JYS9, Q5JYT0, Q5JYT3, Q5JYT4, Q9BQW5, Q9BQW6, Q9BQW8, Q9UJQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: December 5, 2001
Last modified: July 18, 2018
This is version 189 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health