| Description : |
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
100.5 kDa |
| AA Sequence : |
MEKLHQCYWKSGEPQSDDIEASRMK RAAAKHLIERYYHQLTEGCGNEACT NEFCASCPTFLRMDNNAAAIKALEL YKINAKLCDPHPSKKGASSAYLENS KGAPNNSCSEIKMNKKGARIDFKDV TYLTEEKVYEILELCREREDYSPLI RVIGRVFSSAEALVQSFRKVKQHTK EELKSLQAKDEDKDEDEKEKAACSA AAMEEDSEASSSRIGDSSQGDNNLQ KLGPDDVSVDIDAIRRVYTRLLSNE KIETAFLNALVYLSPNVECDLTYHN VYSRDPNYLNLFIIVMENRNLHSPE YLEMALPLFCKAMSKLPLAAQGKLI RLWSKYNADQIRRMMETFQQLITYK VISNEFNSRNLVNDDDAIVAASKCL KMVYYANVVGGEVDTNHNEEDDEEP IPESSELTLQELLGEERRNKKGPRV DPLETELGVKTLDCRKPLIPFEEFI NEPLNEVLEMDKDYTFFKVETENKF SFMTCPFILNAVTKNLGLYYDNRIR MYSERRITVLYSLVQGQQLNPYLRL KVRRDHIIDDALVRLEMIAMENPAD LKKQLYVEFEGEQGVDEGGVSKEFF QLVVEEIFNPDIGMFTYDESTKLFW FNPSSFETEGQFTLIGIVLGLAIYN NCILDVHFPMVVYRKLMGKKGTFRD LGDSHPVLYQSLKDLLEYEGNVEDD MMITFQISQTDLFGNPMMYDLKENG DKIPITNENRKEFVNLYSDYILNKS VEKQFKAFRRGFHMVTNESPLKYLF RPEEIELLICGSRNLDFQALEETTE YDGGYTRDSVLIREFWEIVHSFTDE QKRLFLQFTTGTDRAPVGGLGKLKM IIAKNGPDTERLPTSHTCFNVLLLP EYSSKEKLKERLLKAITYAKGFGML TRTRPLEQKLISEEDLAANDILDYK DDDDKV |
| 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. |
