| 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. |
| Conjugation : |
HIS |
| Source : |
E. coli |
| Form : |
Lyophilised:Add deionized water to prepare a working stock solution of approximately 1 mg/mL and let the lyophilized pellet dissolve completely. Product is not sterile! Please filter the product by an appropriate sterile filter before using it in the cell |
| Purity : |
>95% by SDS-PAGE |
| Storage buffer : |
Preservative: NoneConstituents: PBS |
| Storage : |
Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles. |
| Sequences of amino acids : |
MSYYHHHHHH DYDIPTTENL YFQGAMGSGI QRPTSTPAVD KLLLEEALQD SPQTRSLLSV FEEDAGTLTD YTNQLLQAMQ RVYGAQNEMC LATQQLSKQL LAYEKQNFAL GKGDEEVIST LHYFSKVVDE LNLLHTELAK QLADTMVLPI IQFREKDLTE VSTLKDLFGL ASNEHDLSMA KYSRLPKKKE NEKVKTEVGK EVAAARRKQH LSSLQYYCAL NALQYRKQMA MMEPMIGFAH GQINFFKKGA EMFSKRMDSF LSSVADMVQS IQVELEAEAE KMRVSQQELL SVDESVYTPD SDVAAPQINR NLIQKAGYLN LRNKTGLVTT TWERLYFFTQ GGNLMCQPRG AVAGGLIQDL DNCSVMAVDC EDRRYCFQIT TPNGKSGIIL QAESRKENEE WICAINNISR QIYLTDNPEA VAIKLNQTAL QAVTPITSFG KKQESSCPSQ NLKNSEMENE NDKIVPKATA SLPEAEELIA PGTPIQFDIV LPATEFLDQN RGSRRTNPFG ETEDESFPEA EDSLLQQMFI VRFLGSMAVK TDSTTEVIYE AMRQVLAARA IHNIFRMTES HLMVTSQSLR LIDPQTQVSR ANFELTSVTQ FAAHQENKRL VGFVIRVPES TGEESLSTYI FESNSEGEKI CYAINLGKEI IEVQKDPEAL AQLMLSIPLT NDGKYVLLND QPDDDDGNPN EHRGAESEA |
