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Q15147 (PLCB4_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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PLCB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1175 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
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. This form has a role in retina signal transduction.

Catalytic activity

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

Cofactor

Calcium.

Tissue specificity

Preferentially expressed in the retina.

Involvement in disease

Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 C2 domain.

Contains 1 PI-PLC X-box domain.

Contains 1 PI-PLC Y-box domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 2 (identifier: Q15147-1)

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 1 (identifier: Q15147-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-153: Missing.
     154-167: LAFMTNTNGKIPVR → MNNNWNVCFFLFCP
Isoform 3 (identifier: Q15147-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1154-1175: AKEMQQMVKLEAEMDRRPATVV → LLKSCHAVSQTQGEGDAADGEIGSRDGPQTSNSSMKLQNAN
Note: No experimental confirmation available.
Isoform 4 (identifier: Q15147-5)

The sequence of this isoform differs from the canonical sequence as follows:
     535-535: V → VKKASDDLEHENN
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.4
Chain2 – 117511741-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
PRO_0000088495

Regions

Domain313 – 463151PI-PLC X-box
Domain565 – 681117PI-PLC Y-box
Domain688 – 78699C2

Sites

Active site3281 By similarity
Active site3751 By similarity

Amino acid modifications

Modified residue21N-acetylalanine Ref.4
Modified residue8861Phosphothreonine Ref.5

Natural variations

Alternative sequence1 – 153153Missing in isoform 1.
VSP_004721
Alternative sequence154 – 16714LAFMT…KIPVR → MNNNWNVCFFLFCP in isoform 1.
VSP_004722
Alternative sequence5351V → VKKASDDLEHENN in isoform 4.
VSP_055182
Alternative sequence1154 – 117522AKEMQ…PATVV → LLKSCHAVSQTQGEGDAADG EIGSRDGPQTSNSSMKLQNA N in isoform 3.
VSP_037818
Natural variant211A → T. Ref.3
Corresponds to variant rs6077510 [ dbSNP | Ensembl ].
VAR_056694
Natural variant3291N → T in ARCND2. Ref.6
VAR_068559
Natural variant6211R → C in ARCND2. Ref.6
VAR_068560
Natural variant6211R → H in ARCND2. Ref.6
VAR_068561
Natural variant6231Y → C in ARCND2. Ref.6
VAR_068562
Natural variant6501N → H in ARCND2. Ref.6
VAR_068563
Natural variant7101G → S.
Corresponds to variant rs6118603 [ dbSNP | Ensembl ].
VAR_056695

Experimental info

Sequence conflict4471A → P in AAB02027. Ref.1
Sequence conflict7571F → L in AAB02027. Ref.1
Sequence conflict7871L → P in AAB02027. Ref.1
Sequence conflict8401K → T in AAB02027. Ref.1
Sequence conflict9021A → P in AAB02027. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified December 5, 2001. Version 3.
Checksum: AB2C8EB99EF57357

FASTA1,175134,464
        10         20         30         40         50         60 
MAKPYEFNWQ KEVPSFLQEG AVFDRYEEES FVFEPNCLFK VDEFGFFLTW RSEGKEGQVL 

        70         80         90        100        110        120 
ECSLINSIRS GAIPKDPKIL AALEAVGKSE NDLEGRIVCV CSGTDLVNIS FTYMVAENPE 

       130        140        150        160        170        180 
VTKQWVEGLR SIIHNFRANN VSPMTCLKKH WMKLAFMTNT NGKIPVRSIT RTFASGKTEK 

       190        200        210        220        230        240 
VIFQALKELG LPSGKNDEIE PTAFSYEKFY ELTQKICPRT DIEDLFKKIN GDKTDYLTVD 

       250        260        270        280        290        300 
QLVSFLNEHQ RDPRLNEILF PFYDAKRAMQ IIEMYEPDED LKKKGLISSD GFCRYLMSDE 

       310        320        330        340        350        360 
NAPVFLDRLE LYQEMDHPLA HYFISSSHNT YLTGRQFGGK SSVEMYRQVL LAGCRCVELD 

       370        380        390        400        410        420 
CWDGKGEDQE PIITHGKAMC TDILFKDVIQ AIKETAFVTS EYPVILSFEN HCSKYQQYKM 

       430        440        450        460        470        480 
SKYCEDLFGD LLLKQALESH PLEPGRALPS PNDLKRKILI KNKRLKPEVE KKQLEALRSM 

       490        500        510        520        530        540 
MEAGESASPA NILEDDNEEE IESADQEEEA HPEFKFGNEL SADDLGHKEA VANSVKKGLV 

       550        560        570        580        590        600 
TVEDEQAWMA SYKYVGATTN IHPYLSTMIN YAQPVKFQGF HVAEERNIHY NMSSFNESVG 

       610        620        630        640        650        660 
LGYLKTHAIE FVNYNKRQMS RIYPKGGRVD SSNYMPQIFW NAGCQMVSLN YQTPDLAMQL 

       670        680        690        700        710        720 
NQGKFEYNGS CGYLLKPDFM RRPDRTFDPF SETPVDGVIA ATCSVQVISG QFLSDKKIGT 

       730        740        750        760        770        780 
YVEVDMYGLP TDTIRKEFRT RMVMNNGLNP VYNEESFVFR KVILPDLAVL RIAVYDDNNK 

       790        800        810        820        830        840 
LIGQRILPLD GLQAGYRHIS LRNEGNKPLS LPTIFCNIVL KTYVPDGFGD IVDALSDPKK 

       850        860        870        880        890        900 
FLSITEKRAD QMRAMGIETS DIADVPSDTS KNDKKGKANT AKANVTPQSS SELRPTTTAA 

       910        920        930        940        950        960 
LASGVEAKKG IELIPQVRIE DLKQMKAYLK HLKKQQKELN SLKKKHAKEH STMQKLHCTQ 

       970        980        990       1000       1010       1020 
VDKIVAQYDK EKSTHEKILE KAMKKKGGSN CLEMKKETEI KIQTLTSDHK SKVKEIVAQH 

      1030       1040       1050       1060       1070       1080 
TKEWSEMINT HSAEEQEIRD LHLSQQCELL KKLLINAHEQ QTQQLKLSHD RESKEMRAHQ 

      1090       1100       1110       1120       1130       1140 
AKISMENSKA ISQDKSIKNK AERERRVREL NSSNTKKFLE ERKRLAMKQS KEMDQLKKVQ 

      1150       1160       1170 
LEHLEFLEKQ NEQAKEMQQM VKLEAEMDRR PATVV 

« Hide

Isoform 1 [UniParc].

Checksum: 4A6A14188161A46C
Show »

FASTA1,022117,162
Isoform 3 [UniParc].

Checksum: E6A0912E517D182C
Show »

FASTA1,194136,106
Isoform 4 [UniParc].

Checksum: 8EC5C7445E1052AA
Show »

FASTA1,187135,845

References

« Hide 'large scale' references
[1]"cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)."
Alvarez R.A., Ghalayini A.J., Xu P., Hardcastle A., Bhattacharya S., Rao P.N., Pettenati M.J., Anderson R.E., Baehr W.
Genomics 29:53-61(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Retina.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [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] (ISOFORM 2), VARIANT THR-21.
Tissue: Brain.
[4]Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
Submitted (DEC-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-11; 79-88; 154-163; 181-195; 220-227; 255-266; 366-377; 435-455; 516-528; 577-586; 606-717; 762-780; 786-797; 822-847; 854-871; 883-908; 910-918; 1023-1039 AND 1139-1149, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Ovarian carcinoma.
[5]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-886, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome."
Rieder M.J., Green G.E., Park S.S., Stamper B.D., Gordon C.T., Johnson J.M., Cunniff C.M., Smith J.D., Emery S.B., Lyonnet S., Amiel J., Holder M., Heggie A.A., Bamshad M.J., Nickerson D.A., Cox T.C., Hing A.V., Horst J.A., Cunningham M.L.
Am. J. Hum. Genet. 90:907-914(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARCND2 THR-329; HIS-621; CYS-621; CYS-623 AND HIS-650.
[7]Erratum
Rieder M.J., Green G.E., Park S.S., Stamper B.D., Gordon C.T., Johnson J.M., Cunniff C.M., Smith J.D., Emery S.B., Lyonnet S., Amiel J., Holder M., Heggie A.A., Bamshad M.J., Nickerson D.A., Cox T.C., Hing A.V., Horst J.A., Cunningham M.L.
Am. J. Hum. Genet. 90:1116-1116(2012)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L41349 mRNA. Translation: AAB02027.1.
AL121898 Genomic DNA. No translation available.
AL121909 Genomic DNA. No translation available.
AL031652, AL023805 Genomic DNA. Translation: CAI42213.1.
AL023805, AL031652 Genomic DNA. Translation: CAI43087.1.
AL031652, AL023805 Genomic DNA. Translation: CAI42218.2.
AL023805, AL031652 Genomic DNA. Translation: CAI43092.2.
BC117458 mRNA. Translation: AAI17459.1.
BC143868 mRNA. Translation: AAI43869.1.
CCDSCCDS13104.1. [Q15147-4]
CCDS13105.1. [Q15147-1]
RefSeqNP_000924.3. NM_000933.3. [Q15147-4]
NP_001166117.1. NM_001172646.1.
NP_877949.2. NM_182797.2. [Q15147-1]
XP_006723633.1. XM_006723570.1. [Q15147-4]
XP_006723635.1. XM_006723572.1. [Q15147-1]
UniGeneHs.472101.

3D structure databases

ProteinModelPortalQ15147.
SMRQ15147. Positions 6-855.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111348. 1 interaction.
IntActQ15147. 1 interaction.

PTM databases

PhosphoSiteQ15147.

Proteomic databases

MaxQBQ15147.
PaxDbQ15147.
PeptideAtlasQ5JYT3.
PRIDEQ15147.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278655; ENSP00000278655; ENSG00000101333. [Q15147-1]
ENST00000334005; ENSP00000334105; ENSG00000101333. [Q15147-4]
ENST00000378473; ENSP00000367734; ENSG00000101333.
ENST00000378493; ENSP00000367754; ENSG00000101333. [Q15147-1]
ENST00000378501; ENSP00000367762; ENSG00000101333. [Q15147-4]
ENST00000414679; ENSP00000390616; ENSG00000101333.
GeneID5332.
KEGGhsa:5332.
UCSCuc002wnh.3. human. [Q15147-2]
uc010gbw.1. human. [Q15147-1]
uc021wam.1. human. [Q15147-4]

Organism-specific databases

CTD5332.
GeneCardsGC20P009024.
HGNCHGNC:9059. PLCB4.
MIM600810. gene.
614669. phenotype.
neXtProtNX_Q15147.
Orphanet137888. Auriculocondylar syndrome.
PharmGKBPA33387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149692.
HOVERGENHBG053609.
KOK05858.
OMASFTYMVA.
OrthoDBEOG7WDN1N.
PhylomeDBQ15147.
TreeFamTF352235.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ15147.
BgeeQ15147.
GenevestigatorQ15147.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
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.
IPR011993. PH_like_dom.
IPR001192. PI-PLC_fam.
IPR016280. PLC-beta.
IPR009535. PLC-beta_CS.
IPR017946. PLC-like_Pdiesterase_TIM-brl.
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.
PfamPF00168. 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.
[Graphical view]
PIRSFPIRSF000956. PLC-beta. 1 hit.
PRINTSPR00390. PHPHLIPASEC.
SMARTSM00239. C2. 1 hit.
SM00148. PLCXc. 1 hit.
SM00149. PLCYc. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
SSF51695. SSF51695. 2 hits.
PROSITEPS50004. C2. 1 hit.
PS50007. PIPLC_X_DOMAIN. 1 hit.
PS50008. PIPLC_Y_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPLCB4. human.
GeneWikiPLCB4.
GenomeRNAi5332.
NextBio20648.
PROQ15147.
SOURCESearch...

Entry information

Entry namePLCB4_HUMAN
AccessionPrimary (citable) accession number: Q15147
Secondary accession number(s): B7ZLK6 expand/collapse secondary AC list , E2QRH8, Q17R56, Q5JYS8, Q5JYS9, Q5JYT0, Q5JYT3, Q5JYT4, Q9BQW5, Q9BQW6, Q9BQW8, Q9UJQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: December 5, 2001
Last modified: July 9, 2014
This is version 151 of the entry and version 3 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 20

Human chromosome 20: entries, gene names and cross-references to MIM