| Description : |
This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
112.6 kDa |
| AA Sequence : |
MEPGEVKDRILENISLSVKKLQSYF AACEDEIPAIRNHDKVLQRLCEHLD HALLYGLQDLSSGYWVLVVHFTRRE AIKQIEVLQHVATNLGRSRAWLYLA LNENSLESYLRLFQENLGLLHKYYV KNALVCSHDHLTLFLTLVSGLEFIR FELDLDAPYLDLAPYMPDYYKPQYL LDFEDRLPSSVHGSDSLSLNSFNSV TSTNLEWDDSAIAPSSEDYDFGDVF PAVPSVPSTDWEDGDLTDTVSGPRS TASDLTSSKASTRSPTQRQNPFNEE PAETVSSSDTTPVHTTSQEKEEAQA LDPPDACTELEVIRVTKKKKIGKKK KSRSDEEASPLHPACSQKKCAKQGD GDSRNGSPSLGRDSPDTMLASPQEE GEGPSSTTESSERSEPGLLIPEMKD TSMERLGQPLSKVIDQLNGQLDPST WCSRAEPPDQSFRTGSPGDAPERPP LCDFSEGLSAPMDFYRFTVESPSTV TSGGGHHDPAGLGQPLHVPSSPEAA GQEEEGGGGEGQTPRPLEDTTREAQ ELEAQLSLVREGPVSEPEPGTQEVL CQLKRDQPSPCLSSAEDSGVDEGQG SPSEMVHSSEFRVDNNHLLLLMIHV FRENEEQLFKMIRMSTGHMEGNLQL LYVLLTDCYVYLLRKGATEKPYLVE EAVSYNELDYVSVGLDQQTVKLVCT NRRKQFLLDTADVALAEFFLASLKS AMIKGCREPPYPSILTDATMEKLAL AKFVAQESKCEASAVTVRFYGLVHW EDPTDESLGPTPCHCSPPEGTITKE GMLHYKAGTSYLGKEHWKTCFVVLS NGILYQYPDRTDVIPLLSVNMGGEQ CGGCRRANTTDRPHAFQVILSDRPC LELSAESEAEMAEWMQHLCQAVSKG VIPQGVAPSPCIPCCLVLTDDRLFT CHEDCQTSFFRSLGTAKLGDISAVS TEPGKEYCVLEFSQDSQQLLPPWVI YLSCTSELDRLLSALNSGWKTIYQV DLPHTAIQEASNKKKFEDALSLIHS AWQRSDSLCRGRASRDPWCTRTRPL EQKLISEEDLAANDILDYKDDDDKV |
| 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. |
