ID PEX5_HUMAN STANDARD; PRT; 602 AA. AC P50542; Q15266; Q15115; DT 01-OCT-1996 (REL. 34, CREATED) DT 01-OCT-1996 (REL. 34, LAST SEQUENCE UPDATE) DT 15-DEC-1998 (REL. 37, LAST ANNOTATION UPDATE) DE PEROXISOMAL TARGETING SIGNAL 1 RECEPTOR (PEROXISMORE RECEPTOR 1) DE (PEROXISOMAL C-TERMINAL TARGETING SIGNAL IMPORT RECEPTOR) (PTS1-BP) DE (PEROXIN-5) (PTS1 RECEPTOR). GN PEX5 OR PXR1. OS HOMO SAPIENS (HUMAN). OC EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; MAMMALIA; EUTHERIA; OC PRIMATES; CATARRHINI; HOMINIDAE; HOMO. 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.; RT "Mutations in the PTS1 receptor gene, PXR1, define complementation RT group 2 of the peroxisome biogenesis disorders."; RL NAT. GENET. 9:115-125(1995). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=LIVER; RX MEDLINE; 95310365. RA WIEMER E.A.C., NUTTLEY W.M., BERTOLAET B.L., LI X., FRANCKE U., RA WHEELOCK M.J., ANNE U.K., JOHNSON K.R., SUBRAMANI S.; RT "Human peroxisomal targeting signal-1 receptor restores peroxisomal RT protein import in cells from patients with fatal peroxisomal RT disorders."; RL J. CELL BIOL. 130:51-65(1995). RN [3] RP SEQUENCE FROM N.A. RC TISSUE=LIVER; RX MEDLINE; 95221441. RA FRANSEN M., BREES C., BAUMGART E., VANHOOREN J.C., BAES M., RA MANNAERTS G.P., VAN VELDHOVEN P.P.; RT "Identification and characterization of the putative human RT peroxisomal C-terminal targeting signal import receptor."; RL J. BIOL. CHEM. 270:7731-7736(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: ITS DISTRIBUTION APPEARS TO BE DYNAMIC. IT CC IS PROBABLY A CYCLING RECEPTOR FOUND MAINLY IN THE CYTOPLASM AND CC AS WELL ASSOCIATED TO THE PEROXISOMAL MEMBRANE THROUGH A DOCKING CC FACTOR (PEX13). 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 TPR DOMAINS. CC -!- SIMILARITY: STRONG, TO FUNGAL HOMOLOGS (YEAST PAS10 AND P.PASTORIS CC PAS8). CC -------------------------------------------------------------------------- CC This SWISS-PROT entry is copyright. It is produced through a collaboration CC between the Swiss Institute of Bioinformatics and the EMBL outstation - CC the European Bioinformatics Institute. There are no restrictions on its CC use by non-profit institutions as long as its content is in no way CC modified and this statement is not removed. Usage by and for commercial CC entities requires a license agreement (See http://www.isb-sib.ch/announce/ CC or send an email to license@isb-sib.ch). CC -------------------------------------------------------------------------- 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 EMBL; Z48054; G732798; -. DR EMBL; X84899; G695566; -. DR MIM; 600414; -. DR MIM; 202370; -. DR PFAM; PF00515; TPR; 3. 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). FT CONFLICT 214 214 E -> EFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQ FT QQ (IN REF. 3). FT CONFLICT 388 388 T -> I (IN REF. 1). SQ SEQUENCE 602 AA; 66830 MW; FFC5F028 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 LQRQACETLR DWLRYTPAYA HLVTPAEEGA GGAGLGPSKR ILGSLLSDSL FLEVKELFLA AVRLDPTSID PDVQCGLGVL FNLSGEYDKA VDCFTAALSV RPNDYLLWNK LGATLANGNQ SEEAVAAYRR ALELQPGYIR SRYNLGISCI NLGAHREAVE HFLEALNMQR KSRGPRGEGG AMSENIWSTL RLALSMLGQS DAYGAADARD LSTLLTMFGL PQ //