PLCB4

PLCB4
Identifiers
Aliases	PLCB4 , ARCND2, PI-PLC, phospholipase C beta 4
External IDs	OMIM: 600810; MGI: 107464; HomoloGene: 8471; GeneCards: PLCB4; OMA:PLCB4 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p12.3-p12.2 Start 9,068,763 bp [1] End 9,481,242 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 F3|2 66.64 cM Start 135,500,931 bp [2] End 135,856,513 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 5332 18798 Ensembl ENSG00000101333 ENSMUSG00000039943 UniProt Q15147 n/a RefSeq (mRNA) NM_000933 NM_001172646 NM_182797 NM_013829 NM_001355153 NM_001355154 NM_001355155 NM_001355156 RefSeq (protein) NP_000924 NP_001166117 NP_877949 NP_001364063 NP_001364064 NP_001364065 NP_001364071 NP_001364072 n/a Location (UCSC) Chr 20: 9.07 – 9.48 Mb Chr 2: 135.5 – 135.86 Mb PubMed search [3] [4]
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. ^{[5] [6]}

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. ^[6]

Oncogenic mutations in this gene have been found in cases of uveal melanoma. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000101333 – Ensembl, May 2017
2. 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.
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.
6. "Entrez Gene: PLCB4 phospholipase C, beta 4".
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. PMID   26683228.

Further reading

• 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.