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P40967 Proteins with OtherRepeats Repeats
Uniprot ID: P40967
Protein name : Melanocyte protein PMEL
Gene : PMEL D12S53E PMEL17 SILV
Protein Families : PMEL/NMB family
Squence Length : 661
Sequence
>P40967 662 MDLVLKRCLLHLAVIGALLAVGATKVPRNQDWLGVSRQLRTKAWNRQLYPEWTEAQRLDCWRGGQVSLKVSNDGPTLIGANASFSIALNFPGSQKVLPDGQVIWVNNTIINGSQVWGGQPVYPQETDDACIFPDGGPCPSGSWSQKRSFVYVWKTWGQYWQVLGGPVSGLSIGTGRAMLGTHTMEVTVYHRRGSRSYVPLAHSSSAFTITDQVPFSVSVSQLRALDGGNKHFLRNQPLTFALQLHDPSGYLAEADLSYTWDFGDSSGTLISRALVVTHTYLEPGPVTAQVVLQAAIPLTSCGSSPVPGTTDGHRPTAEAPNTTAGQVPTTEVVGTTPGQAPTAEPSGTTSVQVPTTEVISTAPVQMPTAESTGMTPEKVPVSEVMGTTLAEMSTPEATGMTPAEVSIVVLSGTTAAQVTTTEWVETTARELPIPEPEGPDASSIMSTESITGSLGPLLDGTATLRLVKRQVPLDCVLYRYGSFSVTLDIVQGIESAEILQAVPSGEGDAFELTVSCQGGLPKEACMEISSPGCQPPAQRLCQPVLPSPACQLVLHQILKGGSGTYCLNVSLADTNSLAVVSTQLIMPGQEAGLGQVPLIVGILLVLMAVVLASLIYRRRLMKQDFSVPQLPHSSSHWLRLPRIFCSCPIGENSPLLSGQQV
Repeat regions
REPEAT 315 327 1 REPEAT 328 340 2 REPEAT 341 353 3 REPEAT 354 366 4 REPEAT 367 379 5 REPEAT 380 392 6 REPEAT 393 405 7 REPEAT 406 418 8 REPEAT 419 431 9 REPEAT 432 444 10
Sequence region of repeats
315- 327 AEAPNTTAGQVPT 328- 340 TEVVGTTPGQAPT 341- 353 AEPSGTTSVQVPT 354- 366 TEVISTAPVQMPT 367- 379 AESTGMTPEKVPV 380- 392 SEVMGTTLAEMST 393- 405 PEATGMTPAEVSI 406- 418 VVLSGTTAAQVTT 419- 431 TEWVETTARELPI 432- 444 PEPEGPDASSIMS
Domains
DOMAIN 255 292 PKD
Function
"Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity"
Mutation
468 469 KR->QQ: Loss of proteolytic cleavage