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 16-OCT-2001 (Rel. 40, 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 PXR1 OR PEX5. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A., AND VARIANT NALD LYS-489. RX MEDLINE=95235555; PubMed=7719337; 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; PubMed=7790377; 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; PubMed=7706321; 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 C-TERMINAL PTS1-TYPE TRIPEPTIDE PEROXISOMAL CC TARGETING SIGNAL (SKL-TYPE) AND PLAYS AN ESSENTIAL ROLE IN CC 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 are a cause of Zellweger syndrome-1 (ZWS- CC 1), a fatal peroxisome biogenesis disorder associated with severe CC abnormalities in the brain, liver and kidney. Death occurs soon CC after birth. This disease is due to defective import mechanisms CC for peroxisomal matrix enzymes. CC -!- SIMILARITY: CONTAINS 7 TPR REPEATS. 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; AAC50103.1; -. DR EMBL; Z48054; CAA88131.1; -. DR EMBL; X84899; CAA59324.1; -. DR Genew; HGNC:9719; PXR1. DR MIM; 600414; -. DR MIM; 202370; -. DR MIM; 214100; -. DR InterPro; IPR001440; TPR. DR Pfam; PF00515; TPR; 4. DR SMART; SM00028; TPR; 4. KW Peroxisome; Repeat; TPR repeat; Transport; Protein transport; KW Disease mutation; Zellweger syndrome. 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 /FTId=VAR_007543. 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; EA4E6FAAF5E11C55 CRC64; 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 //