Description : |
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene. |
Source : |
HEK293 |
Species : |
Human |
Tag : |
Myc/DDK |
Molecular Mass : |
280.6 kDa |
AA Sequence : |
MSSSHSRAGQSAAGAAPGGGVDTRD AEMPATEKDLAEDAPWKKIQQNTFT RWCNEHLKCVSKRIANLQTDLSDGL RLIALLEVLSQKKMHRKHNQRPTFR QMQLENVSVALEFLDRESIKLVSID SKAIVDGNLKLILGLIWTLILHYSI SMPMWDEEEDEEAKKQTPKQRLLGW IQNKLPQLPITNFSRDWQSGRALGA LVDSCAPGLCPDWDSWDASKPVTNA REAMQQADDWLGIPQVITPEEIVDP NVDEHSVMTYLSQFPKAKLKPGAPL RPKLNPKKARAYGPGIEPTGNMVKK RAEFTVETRSAGQGEVLVYVEDPAG HQEEAKVTANNDKNRTFSVWYVPEV TGTHKVTVLFAGQHIAKSPFEVYVD KSQGDASKVTAQGPGLEPSGNIANK TTYFEIFTAGAGTGEVEVVIQDPMG QKGTVEPQLEARGDSTYRCSYQPTM EGVHTVHVTFAGVPIPRSPYTVTVG QACNPSACRAVGRGLQPKGVRVKET ADFKVYTKGAGSGELKVTVKGPKGE ERVKQKDLGDGVYGFEYYPMVPGTY IVTITWGGQNIGRSPFEVKVGTECG NQKVRAWGPGLEGGVVGKSADFVVE AIGDDVGTLGFSVEGPSQAKIECDD KGDGSCDVRYWPQEAGEYAVHVLCN SEDIRLSPFMADIRDAPQDFHPDRV KARGPGLEKTGVAVNKPAEFTVDAK HGGKAPLRVQVQDNEGCPVEALVKD NGNGTYSCSYVPRKPVKHTAMVSWG GVSIPNSPFRVNVGAGSHPNKVKVY GPGVAKTGLKAHEPTYFTVDCAEAG QGDVSIGIKCAPGVVGPAEADIDFD IIRNDNDTFTVKYTPRGAGSYTIMV LFADQATPTSPIRVKVEPSHDASKV KAEGPGLSRTGVELGKPTHFTVNAK AAGKGKLDVQFSGLTKGDAVRDVDI IDHHDNTYTVKYTPVQQGPVGVNVT YGGDPIPKSPFSVAVSPSLDLSKIK VSGLGEKVDVGKDQEFTVKSKGAGG QGKVASKIVGPSGAAVPCKVEPGLG ADNSVVRFLPREEGPYEVEVTYDGV PVPGSPFPLEAVAPTKPSKVKAFGP GLQGGSAGSPARFTIDTKGAGTGGL GLTVEGPCEAQLECLDNGDGTCSVS YVPTEPGDYNINILFADTHIPGSPF KAHVVPCFDASKVKCSGPGLERATA GEVGQFQVDCSSAGSAELTIEICSE AGLPAEVYIQDHGDGTHTITYIPLC PGAYTVTIKYGGQPVPNFPSKLQVE PAVDTSGVQCYGPGIEGQGVFREAT TEFSVDARALTQTGGPHVKARVANP SGNLTETYVQDRGDGMYKVEYTPYE EGLHSVDVTYDGSPVPSSPFQVPVT EGCDPSRVRVHGPGIQSGTTNKPNK FTVETRGAGTGGLGLAVEGPSEAKM SCMDNKDGSCSVEYIPYEAGTYSLN VTYGGHQVPGSPFKVPVHDVTDASK VKCSGPGLSPGMVRANLPQSFQVDT SKAGVAPLQVKVQGPKGLVEPVDVV DNADGTQTVNYVPSREGPYSISVLY GDEEVPRSPFKVKVLPTHDASKVKA SGPGLNTTGVPASLPVEFTIDAKDA GEGLLAVQITDPEGKPKKTHIQDNH DGTYTVAYVPDVTGRYTILIKYGGD EIPFSPYRVRAVPTGDASKCTVTVS IGGHGLGAGIGPTIQIGEETVITVD TKAAGKGKVTCTVCTPDGSEVDVDV VENEDGTFDIFYTAPQPGKYVICVR FGGEHVPNSPFQVTALAGDQPSVQP PLRSQQLAPQYTYAQGGQQTWAPER PLVGVNGLDVTSLRPFDLVIPFTIK KGEITGEVRMPSGKVAQPTITDNKD GTVTVRYAPSEAGLHEMDIRYDNMH IPGSPLQFYVDYVNCGHVTAYGPGL THGVVNKPATFTVNTKDAGEGGLSL AIEGPSKAEISCTDNQDGTCSVSYL PVLPGDYSILVKYNEQHVPGSPFTA RVTGDDSMRMSHLKVGSAADIPINI SETDLSLLTATVVPPSGREEPCLLK RLRNGHVGISFVPKETGEHLVHVKK NGQHVASSPIPVVISQSEIGDASRV RVSGQGLHEGHTFEPAEFIIDTRDA GYGGLSLSIEGPSKVDINTEDLEDG TCRVTYCPTEPGNYIINIKFADQHV PGSPFSVKVTGEGRVKESITRRRRA PSVANVGSHCDLSLKIPEISIQDMT AQVTSPSGKTHEAEIVEGENHTYCI RFVPAEMGTHTVSVKYKGQHVPGSP FQFTVGPLGEGGAHKVRAGGPGLER AEAGVPAEFSIWTREAGAGGLAIAV EGPSKAEISFEDRKDGSCGVAYVVQ EPGDYEVSVKFNEEHIPDSPFVVPV ASPSGDARRLTVSSLQESGLKVNQP ASFAVSLNGAKGAIDAKVHSPSGAL EECYVTEIDQDKYAVRFIPRENGVY LIDVKFNGTHIPGSPFKIRVGEPGH GGDPGLVSAYGAGLEGGVTGNPAEF VVNTSNAGAGALSVTIDGPSKVKMD CQECPEGYRVTYTPMAPGSYLISIK YGGPYHIGGSPFKAKVTGPRLVSNH SLHETSSVFVDSLTKATCAPQHGAP GPGPADASKVVAKGLGLSKAYVGQK SSFTVDCSKAGNNMLLVGVHGPRTP CEEILVKHVGSRLYSVSYLLKDKGE YTLVVKWGDEHIPGSPYRVVVPTRT RPLEQKLISEEDLAANDILDYKDDD DKV |
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. |