ID PTSR_HUMAN STANDARD; PRT; 602 AA. AC P50542; DT 01-OCT-1996 (REL. 34, CREATED) DT 01-OCT-1996 (REL. 34, LAST SEQUENCE UPDATE) DT 01-OCT-1996 (REL. 34, LAST ANNOTATION UPDATE) DE PEROXISOMAL TARGETING SIGNAL RECEPTOR 1 (PEROXISMORE RECEPTOR 1). GN PXR1. OS HOMO SAPIENS (HUMAN). OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; TETRAPODA; MAMMALIA; OC EUTHERIA; PRIMATES. RN [1] RP SEQUENCE FROM N.A., AND VARIANT NALD LYS-489. RX MEDLINE; 95235555. RA DODT G., BRAVERMAN N., WONG C., MOSER A., MOSER H.W., WATKINS P., RA VALLE D., GOULD S.J.; RL NAT. GENET. 9:115-125(1995). CC -!- FUNCTION: BINDS TO THE COOH-TERMINAL PTS1-TYPE TRIPEPTIDE CC PEROXISOMAL TARGETING SIGNAL (SKL-TYPE) AND PLAYS AN ESSENTIAL CC ROLE IN PEROXISOMAL PROTEIN IMPORT. CC -!- SUBCELLULAR LOCATION: MEMBRANE-ASSOCIATED. PEROXISOMAL. CC -!- DISEASE: DEFECTS IN PXR1 IS THE CAUSE OF PEROXISOME BIOGENESIS CC DISORDERS (PBD) WHICH ARE LETHAL RECESSIVE DISEASES CAUSED BY CC DEFECTS IN PEROXISOME ASSEMBLY. NEONATAL ADRENOLEUKODYSTROPHY CC (NALD) IS ONE OF THE PBD LINKED TO DEFECTS IN PXR1. CC -!- SIMILARITY: CONTAINS 7 COPIES OF THE TPR DOMAIN. CC -!- SIMILARITY: STRONG, TO FUNGAL HOMOLOGS (YEAST PAS10 AND P.PASTORIS CC PAS8). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U19721; G694005; -. DR MIM; 600414; -. DR MIM; 202370; -. KW PEROXISOME; REPEAT; TPR DOMAIN; TRANSPORT; PROTEIN TRANSPORT; KW DISEASE MUTATION. FT REPEAT 299 331 TPR 1. FT REPEAT 332 365 TPR 2. FT REPEAT 366 399 TPR 3. FT REPEAT 415 448 TPR 4. FT REPEAT 451 484 TPR 5. FT REPEAT 485 518 TPR 6. FT REPEAT 519 552 TPR 7. FT VARIANT 489 489 N -> K (IN NALD). SQ SEQUENCE 602 AA; 66842 MW; A999EFD5 CRC32; MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA SKPLGVASED ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR QAPQRAPGVA DLALSENWAQ EFLAAGDAVD VTQDYNETDW SQEFISEVTD PLSVSPARWA EEYLEQSEEK LWLGEPEGTA TDRWYDEYHP EEDLQHTASD FVAKVDDPKL ANSEGTSDAW VDQFTRPVNT SALDMEFERA KSAIESDVDF WDKLQAELEE MAKRDAEAHP WLSDYDDLTS ATYDKGYQFE EENPLRDHPQ PFEEGLRRLQ EGDLPNAVLL FEAAVQQDPK HMEAWQYLGT TQAENEQELL AISALRRCLE LKPDNQTALM ALAVSFTNES LQRQACEILR DWLRYTPAYA HLVTPAEEGA GGAGLGPSKR ILGSLLSDSL FLEVKELFLA AVRLDPTSID PDVQCGLGVL FNLSGEYDKA VDCFTAALSV RPNDYLLWNK LGATLANGNQ SEEAVAAYRR ALELQPGYIR SRYNLGISCI NLGAHREAVE HFLEALNMQR KSRGPRGEGG AMSENIWSTL RLALSMLGQS DAYGAADARD LSTLLTMFGL PQ //