ID PEX5_HUMAN STANDARD; PRT; 602 AA. AC P50542; Q15115; Q15266; DT 01-OCT-1996 (Rel. 34, Created) DT 01-OCT-1996 (Rel. 34, Last sequence update) DT 05-JUL-2004 (Rel. 44, 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 Name=PEX5; Synonyms=PXR1; 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 peroxisomal RT 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 PEX5 are a cause of Zellweger syndrome-1 (ZWS- CC 1) [MIM:214100]. ZWS-1 is a fatal peroxisome biogenesis disorder CC associated with severe abnormalities in the brain, liver and CC kidney. Death occurs soon after birth. This disease is due to CC defective import mechanisms for peroxisomal matrix enzymes. CC -!- SIMILARITY: Belongs to the peroxisomal targeting signal receptor CC family. CC -!- SIMILARITY: Contains 7 TPR repeats. 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 PIR; A56126; A56126. DR PDB; 1FCH; 06-DEC-00. DR Genew; HGNC:9719; PEX5. DR MIM; 600414; -. DR MIM; 202370; -. DR MIM; 214100; -. DR GO; GO:0005778; C:peroxisomal membrane; TAS. DR GO; GO:0005052; F:peroxisome targeting signal-1 receptor acti...; TAS. DR InterPro; IPR001440; TPR. DR InterPro; IPR008941; TPR-like. DR Pfam; PF00515; TPR; 4. DR PROSITE; PS50005; TPR; 5. DR PROSITE; PS50293; TPR_REGION; 1. KW 3D-structure; Disease mutation; Peroxisome; Protein transport; Repeat; KW TPR repeat; Transport; Zellweger syndrome. FT REPEAT 298 331 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). FT HELIX 281 284 FT TURN 294 297 FT HELIX 301 310 FT TURN 311 312 FT HELIX 314 326 FT TURN 329 330 FT HELIX 332 344 FT TURN 345 346 FT HELIX 348 361 FT TURN 363 364 FT HELIX 366 378 FT TURN 379 380 FT HELIX 382 394 FT TURN 395 395 FT TURN 397 399 FT HELIX 400 402 FT HELIX 423 444 FT TURN 446 447 FT HELIX 451 464 FT TURN 465 465 FT HELIX 467 478 FT TURN 479 480 FT TURN 482 483 FT HELIX 485 497 FT TURN 498 499 FT HELIX 501 514 FT TURN 516 517 FT HELIX 519 531 FT TURN 532 533 FT HELIX 535 550 FT HELIX 564 577 FT TURN 578 578 FT HELIX 580 582 FT HELIX 583 587 FT TURN 588 589 FT HELIX 591 597 FT TURN 598 599 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 //