| Description : |
This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
259.2 kDa |
| AA Sequence : |
MTSEEMTASVLIPVTQRKVVSAQSA ADESSEKVSDINISKAHTVRRSGET SHTISQLNKLKEEPSGSNLPKILSI AREKIVSDENSNEKCWEKIMPDSAK NLNINCNNILRNHQHGLPQRQFYEM YNSVAEEDLCLETGIPSPLERKVFP GIQLELDRPSMGISPLGNQSVIIET GRAHPDSRRAVFHFHYEVDRRMSDT FCTLSENLILDDCGNCVPLPGGEEK QKKNYVAYTCKLMELAKNCDNKNEQ LQCDHCDTLNDKYFCFEGSCEKVDM VYSGDSFCRKDFTDSQAAKTFLSHF EDFPDNCDDVEEDAFKSKKERSTLL VRRFCKNDREVKKSVYTGTRAIVRT LPSGHIGLTAWSYIDQKRNGPLLPC GRVMEPPSTVEIRQDGSQRLSEAQW YPIYNAVRREETENTVGSLLHFLTK LPASETAHGRISVGPCLKQCVRDTV CEYRATLQRTSISQYITGSLLEATT SLGARSGLLSTFGGSTGRMMLKERQ PGPSVANSNALPSSSAGISKELIDL QPLIQFPEEVASILMEQEQTIYRRV LPVDYLCFLTRDLGTPECQSSLPCL KASISASILTTQNGEHNALEDLVMR FNEVSSWVTWLILTAGSMEEKREVF SYLVHVAKCCWNMGNYNAVMEFLAG LRSRKVLKMWQFMDQSDIETMRSLK DAMAQHESSCEYRKVVTRALHIPGC KVVPFCGVFLKELCEVLDGASGLMK LCPRYNSQEETLEFVADYSGQDNFL QRVGQNGLKNSEKESTVNSIFQVIR SCNRSLETDEEDSPSEGNSSRKSSL KDKSRWQFIIGDLLDSDNDIFEQSK EYDSHGSEDSQKAFDHGTELIPWYV LSIQADVHQFLLQGATVIHYDQDTH LSARCFLQLQPDNSTLTWVKPTTAS PASSKAKLGVLNNTAEPGKFPLLGN AGLSSLTEGVLDLFAVKAVYMGHPG IDIHTVCVQNKLGSMFLSETGVTLL YGLQTTDNRLLHFVAPKHTAKMLFS GLLELTRAVRKMRKFPDQRQQWLRK QYVSLYQEDGRYEGPTLAHAVELFG GRRWSARNPSPGTSAKNAEKPNMQR NNTLGISTTKKKKKILMRGESGEVT DDEMATRKAKMHKECRSRSGSDPQD INEQEESEVNAIANPPNPLPSRRAH SLTTAGSPNLAAGTSSPIRPVSSPV LSSSNKSPSSAWSSSSWHGRIKGGM KGFQSFMVSDSNMSFVEFVELFKSF SVRSRKDLKDLFDVYAVPCNRSGSE SAPLYTNLTIDENTSDLQPDLDLLT RNVSDLGLFIKSKQQLSDNQRQISD AIAAASIVTNGTGIESTSLGIFGVG ILQLNDFLVNCQGEHCTYDEILSII QKFEPSISMCHQGLMSFEGFARFLM DKENFASKNDESQENIKELQLPLSY YYIESSHNTYLTGHQLKGESSVELY SQVLLQGCRSVELDCWDGDDGMPII YHGHTLTTKIPFKEVVEAIDRSAFI NSDLPIIISIENHCSLPQQRKMAEI FKTVFGEKLVTKFLFETDFSDDPML PSPDQLRKKVLLKNKKLKAHQTPVD ILKQKAHQLASMQVQAYNGGNANPR PANNEEEEDEEDEYDYDYESLSDDN ILEDRPENKSCNDKLQFEYNEEIPK RIKKADNSACNKGKVYDMELGEEFY LDQNKKESRQIAPELSDLVIYCQAV KFPGLSTLNASGSSRGKERKSRKSI FGNNPGRMSPGETASFNKTSGKSSC EGIRQTWEESSSPLNPTTSLSAIIR TPKCYHISSLNENAAKRLCRRYSQK LTQHTACQLLRTYPAATRIDSSNPN PLMFWLHGIQLVALNYQTDDLPLHL NAAMFEANGGCGYVLKPPVLWDKNC PMYQKFSPLERDLDSMDPAVYSLTI VSGQNVCPSNSMGSPCIEVDVLGMP LDSCHFRTKPIHRNTLNPMWNEQFL FHVHFEDLVFLRFAVVENNSSAVTA QRIIPLKALKRGYRHLQLRNLHNEV LEISSLFINSRRMEENSSGNTMSAS SMFNTEERKCLQTHRVTVHGVPGPE PFTVFTINGGTKAKQLLQQILTNEQ DIKPVTTDYFLMEEKYFISKEKNEC RKQPFQRAIGPEEEIMQILSSWFPE EGYMGRIVLKTQQENLEEKNIVQDD KEVILSSEEESFFVQVHDVSPEQPR TVIKAPRVSTAQDVIQQTLCKAKYS YSILSNPNPSDYVLLEEVVKDTTNK KTTTPKSSQRVLLDQECVFQAQSKW KGAGKFILKLKEQVQASREDKKKGI SFASELKKLTKSTKQPRGLTSPSQL LTSESIQTKEEKPVGGLSSSDTMDY RQTRTRPLEQKLISEEDLAANDILD YKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
