PLCB4

PLCB4
Identifiers
Aliases	PLCB4, ARCND2, PI-PLC, phospholipase C beta 4
External IDs	OMIM: 600810; MGI: 107464; GeneCards: PLCB4
Enzyme activity
Gene location (Human)
Chr.	Chromosome 20 (human)
End	9,481,242 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	135,856,513 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; lateral nuclear group of thalamus; ; sural nerve; ; bronchial epithelial cell; ; cerebellar cortex; ; cerebellar hemisphere; ; mucosa of sigmoid colon; ; mucosa of paranasal sinus; ; right hemisphere of cerebellum; ; cerebellar vermis;
	Top expressed in
	vestibular membrane of cochlear duct; ; medial geniculate nucleus; ; medial dorsal nucleus; ; parotid gland; ; iris; ; submandibular gland; ; cerebellar vermis; ; lobe of cerebellum; ; lateral geniculate nucleus; ; superior colliculus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	phospholipase C activity; phosphoric diester hydrolase activity; calcium ion binding; protein binding; hydrolase activity; signal transducer activity; phosphatidylinositol phospholipase C activity;
Cellular component	cytosol; dendrite; nucleus; postsynaptic density; smooth endoplasmic reticulum; parallel fiber to Purkinje cell synapse; glutamatergic synapse; postsynapse; intracellular anatomical structure;
Biological process	lipid metabolism; lipid catabolic process; signal transduction; intracellular signal transduction; inositol phosphate metabolic process; G protein-coupled receptor signaling pathway; modulation of chemical synaptic transmission; inositol trisphosphate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	5332
	18798
	ENSG00000101333
	ENSMUSG00000039943
	Q15147
	n/a
	NM_000933; NM_001172646; NM_182797
	NM_013829; NM_001355153; NM_001355154; NM_001355155; NM_001355156
NP_000924; NP_001166117; NP_877949; NP_001364063; NP_001364064;
	NP_001364065; NP_001364071; NP_001364072
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4 is an enzyme that in humans is encoded by the PLCB4 gene.

Function

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene.

Oncogenic mutations in this gene have been found in cases of uveal melanoma.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000101333 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039943 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Alvarez RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE, Baehr W (Feb 1996). "cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)". Genomics. 29 (1): 53–61. doi:10.1006/geno.1995.1214. PMID 8530101.
1 2 "Entrez Gene: PLCB4 phospholipase C, beta 4".
↑ Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jonsson G, Hayward NK (Jan 2016). "Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4". Oncotarget. 7 (4): 4624–31. doi:10.18632/oncotarget.6614. PMC 4826231. PMID 26683228.

Cefai D, Debre P, Kaczorek M, et al. (1991). "Human immunodeficiency virus-1 glycoproteins gp120 and gp160 specifically inhibit the CD3/T cell-antigen receptor phosphoinositide transduction pathway". J. Clin. Invest. 86 (6): 2117–24. doi:10.1172/JCI114950. PMC 329852. PMID 1979339.
Zauli G, Previati M, Caramelli E, et al. (1995). "Exogenous human immunodeficiency virus type-1 Tat protein selectively stimulates a phosphatidylinositol-specific phospholipase C nuclear pathway in the Jurkat T cell line". Eur. J. Immunol. 25 (9): 2695–700. doi:10.1002/eji.1830250944. PMID 7589147. S2CID 20562627.
Lyu MS, Park DJ, Rhee SG, Kozak CA (1996). "Genetic mapping of the human and mouse phospholipase C genes". Mamm. Genome. 7 (7): 501–4. doi:10.1007/s003359900151. PMID 8672127. S2CID 32396932.
Chen P, Mayne M, Power C, Nath A (1997). "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases". J. Biol. Chem. 272 (36): 22385–8. doi:10.1074/jbc.272.36.22385. PMID 9278385.
Mayne M, Bratanich AC, Chen P, et al. (1998). "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease". Neuroimmunomodulation. 5 (3–4): 184–92. doi:10.1159/000026336. PMID 9730685. S2CID 19529677.
Haughey NJ, Holden CP, Nath A, Geiger JD (1999). "Involvement of inositol 1,4,5-trisphosphate-regulated stores of intracellular calcium in calcium dysregulation and neuron cell death caused by HIV-1 protein tat". J. Neurochem. 73 (4): 1363–74. doi:10.1046/j.1471-4159.1999.0731363.x. PMID 10501179. S2CID 25410140.
Mayne M, Holden CP, Nath A, Geiger JD (2000). "Release of calcium from inositol 1,4,5-trisphosphate receptor-regulated stores by HIV-1 Tat regulates TNF-alpha production in human macrophages". J. Immunol. 164 (12): 6538–42. doi:10.4049/jimmunol.164.12.6538. PMID 10843712.
Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bennasser Y, Badou A, Tkaczuk J, Bahraoui E (2003). "Signaling pathways triggered by HIV-1 Tat in human monocytes to induce TNF-alpha". Virology. 303 (1): 174–80. doi:10.1006/viro.2002.1676. PMID 12482669.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hahn CG, Wang HY, Cho DS, et al. (2006). "Altered neuregulin 1-erbB4 signaling contributes to NMDA receptor hypofunction in schizophrenia". Nat. Med. 12 (7): 824–8. doi:10.1038/nm1418. PMID 16767099. S2CID 8250592.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000101333 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039943 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8530101-5] Alvarez RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE, Baehr W (Feb 1996). "cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)". Genomics. 29 (1): 53–61. doi:10.1006/geno.1995.1214. PMID 8530101.

[entrez-6] 1 2 "Entrez Gene: PLCB4 phospholipase C, beta 4".

[pmid26683228-7] Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jonsson G, Hayward NK (Jan 2016). "Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4". Oncotarget. 7 (4): 4624–31. doi:10.18632/oncotarget.6614. PMC 4826231. PMID 26683228.

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

PLCB4

Function

References

Further reading