Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.
| RefSeq Version | NM_000933.3, 289547588 |
| Length | 5425 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. |
| Product | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4 isoform a |
| Comment | Summary: 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region and includes an alternate exon in the 3' coding region that results in a frameshift, compared to variant 3. The complete exon combination of the 5' UTR for this variant has not been determined. The resulting isoform (a) lacks an internal segment and has a longer and distinct C-terminus, compared to isoform c. |
| RefSeq | NP_000924.3 |
| CDS | 16..3600 | Exon (1) | 1..99 | Exon (2) | 1..99 | Exon (3) | 100..180 | Exon (4) | 181..240 | Exon (5) | 241..384 | Exon (6) | 385..464 | Exon (7) | 465..518 | Exon (8) | 519..600 | Exon (9) | 601..701 | Exon (10) | 702..759 | Exon (11) | 760..868 | Exon (12) | 869..1079 | Exon (13) | 1080..1173 | Exon (14) | 1174..1253 | Exon (15) | 1254..1338 | Exon (16) | 1339..1429 | Exon (17) | 1430..1525 | Exon (18) | 1526..1626 | Exon (19) | 1627..1768 | Exon (20) | 1769..1853 | Exon (21) | 1854..1978 | Exon (22) | 1979..2030 | Exon (23) | 2031..2133 | Exon (24) | 2134..2298 | Exon (25) | 2299..2503 | Exon (26) | 2504..2592 | Exon (27) | 2593..2743 | Exon (28) | 2744..2793 | Exon (29) | 2794..2859 | Exon (30) | 2860..2975 | Exon (31) | 2976..3051 | Exon (32) | 3052..3227 | Exon (33) | 3228..3329 | Exon (34) | 3330..3387 | Exon (35) | 3388..3474 | Exon (36) | 3475..3511 | Exon (37) | 3512..5407 |
| Translation | MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVL
ECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPE
VTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEK
VIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVD
QLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDE
NAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELD
CWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM
SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSM
MEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLV
TVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVG
LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQL
NQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGT
YVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNK
LIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK
FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAA
LASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQ
VDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQH
TKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQ
AKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQ
LEHLEFLEKQNEQLLKSCHAVSQTQGEGDAADGEIGSRDGPQTSNSSMKLQNAN
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| Position | Chain | Variation | Link |
| 76 | + | a, g | dbSNP:6077510 |
| 117 | + | a, c | dbSNP:79117673 |
| 456 | + | a, c | dbSNP:75853397 |
| 931 | + | c, t | dbSNP:6039452 |
| 937 | + | c, t | dbSNP:78074693 |
| 1116 | + | a, g | dbSNP:1046939 |
| 1170 | + | , t | dbSNP:35771445 |
| 1339..1341 | + | g, t | dbSNP:1129248 |
| 1353 | + | a, g | dbSNP:1129249 |
| complement(1656) | - | t, c | dbSNP:35479108 |
| 2143 | + | a, g | dbSNP:6118603 |
| 2223 | + | a, g | dbSNP:6118604 |
| 2284 | + | c, t | dbSNP:1129250 |
| 2379 | + | a, g | dbSNP:16995899 |
| 2534 | + | a, c | dbSNP:1046942 |
| 2589 | + | a, g | dbSNP:1129252 |
| complement(2607) | - | g, a | dbSNP:35218589 |
| complement(2655) | - | g, a | dbSNP:34678819 |
| 2696 | + | a, g | dbSNP:112585987 |
| 2909 | + | g, t | dbSNP:8183759 |
| 2973 | + | a, g | dbSNP:1129253 |
| complement(3024) | - | t, c | dbSNP:35285428 |
| 3047 | + | c, t | dbSNP:6108299 |
| 3394 | + | a, c | dbSNP:6056634 |
| 3454 | + | c, t | dbSNP:6140947 |
| 3750 | + | g, t | dbSNP:41275610 |
| complement(3871) | - | t, c | dbSNP:2076392 |
| 3901 | + | g, t | dbSNP:112447507 |
| 3945 | + | c, t | dbSNP:77776955 |
| 4034 | + | a, t | dbSNP:6140952 |
| 4253 | + | , t | dbSNP:71677610 |
| 4338 | + | a, g | dbSNP:41275612 |
| 4555 | + | c, t | dbSNP:114844715 |
| 4603 | + | a, c | dbSNP:74772813 |
| 4802 | + | a, g | dbSNP:114009007 |
| 5088 | + | c, g | dbSNP:115211797 |
| Gene Symbol | PLCB4 |
| Gene Synonym | FLJ16169; PI-PLC |
| Chromosome | 20 |
| Locus Map | 20p12 |
| All Transcripts | NM_000933 , NM_182797 , NM_001172646 |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients . |
| Author | Saus,E., Brunet,A., Armengol,L., Alonso,P., Crespo,J.M., Fernandez-Aranda,F., Guitart,M., Martin-Santos,R., Menchon,J.M., Navines,R., Soria,V., Torrens,M., Urretavizcaya,M., Valles,V., Gratacos,M. and Estivill,X. |
| Journal | J Psychiatr Res 44 (14), 971-978 (2010) |
| Title | Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption . |
| Author | Kovanen,L., Saarikoski,S.T., Haukka,J., Pirkola,S., Aromaa,A., Lonnqvist,J. and Partonen,T. |
| Journal | Alcohol Alcohol. 45 (4), 303-311 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | CLOCK is suggested to associate with comorbid alcohol use and depressive disorders . |
| Author | Sjoholm,L.K., Kovanen,L., Saarikoski,S.T., Schalling,M., Lavebratt,C. and Partonen,T. |
| Journal | J Circadian Rhythms 8, 1 (2010) |
| Title | Genetic mapping of the human and mouse phospholipase C genes . |
| Author | Lyu,M.S., Park,D.J., Rhee,S.G. and Kozak,C.A. |
| Journal | Mamm. Genome 7 (7), 501-504 (1996) |
| Title | cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4) . |
| Author | Alvarez,R.A., Ghalayini,A.J., Xu,P., Hardcastle,A., Bhattacharya,S., Rao,P.N., Pettenati,M.J., Anderson,R.E. and Baehr,W. |
| Journal | Genomics 29 (1), 53-61 (1995) |
| Title | Exogenous human immunodeficiency virus type-1 Tat protein selectively stimulates a phosphatidylinositol-specific phospholipase C nuclear pathway in the Jurkat T cell line . |
| Author | Zauli,G., Previati,M., Caramelli,E., Bassini,A., Falcieri,E., Gibellini,D., Bertolaso,L., Bosco,D., Robuffo,I. and Capitani,S. |
| Journal | Eur. J. Immunol. 25 (9), 2695-2700 (1995) |
| Title | Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator . |
| Author | Berstein,G., Blank,J.L., Jhon,D.Y., Exton,J.H., Rhee,S.G. and Ross,E.M. |
| Journal | Cell 70 (3), 411-418 (1992) |
| Title | Purification and characterization of membrane-bound phospholipase C specific for phosphoinositides from human platelets . |
| Author | Banno,Y., Yada,Y. and Nozawa,Y. |
| Journal | J. Biol. Chem. 263 (23), 11459-11465 (1988) |
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