| Description : |
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
74.5 kDa |
| AA Sequence : |
MPAVDKLLLEEALQDSPQTRSLLSV FEEDAGTLTDYTNQLLQAMQRVYGA QNEMCLATQQLSKQLLAYEKQNFAL GKGDEEVISTLHYFSKVVDELNLLH TELAKQLADTMVLPIIQFREKDLTE VSTLKDLFGLASNEHDLSMAKYSRL PKKKENEKVKTEVGKEVAAARRKQH LSSLQYYCALNALQYRKQMAMMEPM IGFAHGQINFFKKGAEMFSKRMDSF LSSVADMVQSIQVELEAEAEKMRVS QQELLSVDESVYTPDSDVAAPQINR NLIQKAGYLNLRNKTGLVTTTWERL YFFTQGGNLMCQPRGAVAGGLIQDL DNCSVMAVDCEDRRYCFQITTPNGK SGIILQAESRKENEEWICAINNISR QIYLTDNPEAVAIKLNQTALQAVTP ITSFGKKQESSCPSQNLKNSEMENE NDKIVPKVTASLPEAEELIAPGTPI QFDIVLPATEFLDQNRGSRRTNPFG ETEDESFPEAEDSLLQQMFIVRFLG SMAVKTDSTTEVIYEAMRQVLAARA IHNIFRMTESHLMVTSQSLRLIDPQ TQVSRANFELTSVTQFAAHQENKRL VGFVIRVPESTGEESLSTYIFESNS EGEKICYAINLGKEIIEVQKDPEAL AQLMLSIPLTNDGKYVLLNDQPDDD DGNPNEHRGAESEATRTRPLEQKLI SEEDLAANDILDYKDDDDKV |
| 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. |
