ID PEX5_HUMAN Reviewed; 639 AA. AC P50542; Q15115; Q15266; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 12-DEC-2006, sequence version 3. DT 20-MAR-2007, entry version 69. DE Peroxisomal targeting signal 1 receptor (Peroxisome 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; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT NALD LYS-526. RX MEDLINE=95235555; PubMed=7719337; DOI=10.1038/ng0295-115; 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 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RC TISSUE=Liver; RX MEDLINE=95310365; PubMed=7790377; DOI=10.1083/jcb.130.1.51; 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 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Liver; RX MEDLINE=95221441; PubMed=7706321; DOI=10.1074/jbc.270.13.7731; 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). RN [4] RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 272-639. RX PubMed=11101887; DOI=10.1038/81930; RA Gatto G.J. Jr., Geisbrecht B.V., Gould S.J., Berg J.M.; RT "Peroxisomal targeting signal-1 recognition by the TPR domains of RT human PEX5."; RL Nat. Struct. Biol. 7:1091-1095(2000). 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 -!- INTERACTION: CC O00623:PEX12; NbExp=2; IntAct=EBI-597835, EBI-594836; CC -!- SUBCELLULAR LOCATION: Cytoplasm. Peroxisome; peroxisomal membrane; CC peripheral membrane protein. Note=Its distribution appears to be CC dynamic. It is probably a cycling receptor found mainly in the CC cytoplasm and as well associated to the peroxisomal membrane CC through a docking factor (PEX13). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=P50542-1; Sequence=Displayed; CC Name=2; CC IsoId=P50542-2; Sequence=VSP_021880; 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 -!- WEB RESOURCE: NAME=GeneReviews; CC URL="http://www.genetests.org/query?gene=PEX5". 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; -; mRNA. DR EMBL; Z48054; CAA88131.1; -; mRNA. DR EMBL; X84899; CAA59324.1; -; mRNA. DR PIR; A56126; A56126. DR UniGene; Hs.567327; -. DR PDB; 1FCH; X-ray; A/B=235-602. DR PDB; 2C0L; X-ray; A=-. DR PDB; 2C0M; X-ray; A/B/C/F=-. DR IntAct; P50542; -. DR Ensembl; ENSG00000139197; Homo sapiens. DR KEGG; hsa:5830; -. DR HGNC; HGNC:9719; PEX5. DR MIM; 202370; phenotype. DR MIM; 214100; phenotype. DR MIM; 600414; gene. DR LinkHub; P50542; -. DR ArrayExpress; P50542; -. DR GermOnline; ENSG00000139197; Homo sapiens. DR RZPD-ProtExp; A0787; -. DR RZPD-ProtExp; IOH9796; -. DR RZPD-ProtExp; Z0368; -. DR GO; GO:0005778; C:peroxisomal membrane; TAS:ProtInc. DR GO; GO:0005052; F:peroxisome targeting signal-1 binding; TAS:ProtInc. DR GO; GO:0005515; F:protein binding; IPI:UniProtKB. DR InterPro; IPR008940; Prenyl_trans. DR InterPro; IPR011990; TPR-like_helical. DR InterPro; IPR001440; TPR_1. DR InterPro; IPR013026; TPR_region. DR Gene3D; G3DSA:1.25.40.10; TPR-like_helical; 1. DR Pfam; PF00515; TPR_1; 4. DR SMART; SM00028; TPR; 4. DR PROSITE; PS50005; TPR; 5. DR PROSITE; PS50293; TPR_REGION; 1. KW 3D-structure; Alternative splicing; Disease mutation; Peroxisome; KW Protein transport; Repeat; TPR repeat; Transport; Zellweger syndrome. FT CHAIN 1 639 Peroxisomal targeting signal 1 receptor. FT /FTId=PRO_0000106305. FT REPEAT 335 368 TPR 1. FT REPEAT 369 402 TPR 2. FT REPEAT 403 436 TPR 3. FT REPEAT 452 485 TPR 4. FT REPEAT 488 521 TPR 5. FT REPEAT 522 555 TPR 6. FT REPEAT 556 589 TPR 7. FT VAR_SEQ 215 251 Missing (in isoform 2). FT /FTId=VSP_021880. FT VARIANT 526 526 N -> K (in NALD). FT /FTId=VAR_007543. FT CONFLICT 425 425 T -> I (in Ref. 1). FT HELIX 281 284 FT TURN 294 297 FT HELIX 301 310 FT HELIX 314 326 FT HELIX 332 344 FT HELIX 348 361 FT HELIX 366 378 FT HELIX 382 394 FT TURN 397 399 FT HELIX 400 402 FT HELIX 423 444 FT HELIX 451 463 FT HELIX 467 480 FT HELIX 485 497 FT HELIX 501 514 FT HELIX 519 532 FT HELIX 535 550 FT HELIX 564 577 FT HELIX 580 582 FT HELIX 583 587 FT HELIX 591 597 FT HELIX 617 624 FT HELIX 628 634 SQ SEQUENCE 639 AA; 70865 MW; 9D6951F58AED31AC CRC64; MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA SKPLGVASED ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR QAPQRAPGVA DLALSENWAQ EFLAAGDAVD VTQDYNETDW SQEFISEVTD PLSVSPARWA EEYLEQSEEK LWLGEPEGTA TDRWYDEYHP EEDLQHTASD FVAKVDDPKL ANSEFLKFVR QIGEGQVSLE SGAGSGRAQA EQWAAEFIQQ QGTSDAWVDQ FTRPVNTSAL DMEFERAKSA IESDVDFWDK LQAELEEMAK RDAEAHPWLS DYDDLTSATY DKGYQFEEEN PLRDHPQPFE EGLRRLQEGD LPNAVLLFEA AVQQDPKHME AWQYLGTTQA ENEQELLAIS ALRRCLELKP DNQTALMALA VSFTNESLQR QACETLRDWL RYTPAYAHLV TPAEEGAGGA GLGPSKRILG SLLSDSLFLE VKELFLAAVR LDPTSIDPDV QCGLGVLFNL SGEYDKAVDC FTAALSVRPN DYLLWNKLGA TLANGNQSEE AVAAYRRALE LQPGYIRSRY NLGISCINLG AHREAVEHFL EALNMQRKSR GPRGEGGAMS ENIWSTLRLA LSMLGQSDAY GAADARDLST LLTMFGLPQ //