| Description : |
This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
175.6 kDa |
| AA Sequence : |
MASSAREHLLFVRRRNPQMRYTLSP ENLQSLAAQSSMPENMTLQRANSDT DLVTSESRSSLTASMYEYTLGQAQN LIIFWDIKEEVDPSDWIGLYHIDEN SPANFWDSKNRGVTGTQKGQIVWRI EPGPYFMEPEIKICFKYYHGISGAL RATTPCITVKNPAVMMGAEGMEGGA SGNLHSRKLVSFTLSDLRAVGLKKG MFFNPDPYLKMSIQPGKKSSFPTCA HHGQERRSTIISNTTNPIWHREKYS FFALLTDVLEIEIKDKFAKSRPIIK RFLGKLTIPVQRLLERQAIGDQMLS YNLGRRLPADHVSGYLQFKVEVTSS VHEDASPEAVGTILGVNSVNGDLGS PSDDEDMPGSHHDSQVCSNGPVSED SAADGTPKHSFRTSSTLEIDTEELT STSSRTSPPRGRQDSLNDYLDAIEH NGHSRPGTATCSERSMGASPKLRSS FPTDTRLNAMLHIDSDEEDHEFQQD LGYPSSLEEEGGLIMFSRASRADDG SLTSQTKLEDNPVENEEASTHEAAS FEDKPENLPELAESSLPAGPAPEEG EGGPEPQPSADQGSAELCGSQEVDQ PTSGADTGTSDASGGSRRAVSETES LDQGSEPSQVSSETEPSDPARTESV SEASTRPEGESDLECADSSCNESVT TQLSSVDTRCSSLESARFPETPAFS SQEEEDGACAAEPTSSGPAEGSQES VCTAGSLPVVQVPSGEDEGPGAESA TVPDQEELGEVWQRRGSLEGAAAAA ESPPQEEGSAGEAQGTCEGATAQEE GATGGSQANGHQPLRSLPSVRQDVS RYQRVDEALPPNWEARIDSHGRIFY VDHVNRTTTWQRPTAPPAPQVLQRS NSIQQMEQLNRRYQSIRRTMTNERP EENTNAIDGAGEEADFHQASADFRR ENILPHSTSRSRITLLLQSPPVKFL ISPEFFTVLHSNPSAYRMFTNNTCL KHMITKVRRDTHHFERYQHNRDLVG FLNMFANKQLELPRGWEMKHDHQGK AFFVDHNSRTTTFIDPRLPLQSSRP TSALVHRQHLTRQRSHSAGEVGEDS RHAGPPVLPRPSSTFNTVSRPQYQD MVPVAYNDKIVAFLRQPNIFEILQE RQPDLTRNHSLREKIQFIRTEGTPG LVRLSSDADLVMLLSLFEEEIMSYV PPHALLHPSYCQSPRGSPVSSPQNS PGTQRANARAPAPYKRDFEAKLRNF YRKLETKGYGQGPGKLKLIIRRDHL LEDAFNQIMGYSRKDLQRNKLYVTF VGEEGLDYSGPSREFFFLVSRELFN PYYGLFEYSANDTYTVQISPMSAFV DNHHEWFRFSGRILGLALIHQYLLD AFFTRPFYKALLRILCDLSDLEYLD EEFHQSLQWMKDNDIHDILDLTFTV NEEVFGQITERELKPGGANIPVTEK NKKEYIERMVKWRIERGVVQQTESL VRGFYEVVDARLVSVFDARELELVI AGTAEIDLSDWRNNTEYRGGYHDNH IVIRWFWAAVERFNNEQRLRLLQFV TGTSSIPYEGFASLRGSNGPRRFCV EKWGKITALPRAHTCFNRLDLPPYP SFSMLYEKLLTAVEETSTFGLETRT 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. |
