ID PEX7_HUMAN Reviewed; 323 AA. AC O00628; DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot. DT 01-JUL-1997, sequence version 1. DT 24-NOV-2009, entry version 87. DE RecName: Full=Peroxisomal targeting signal 2 receptor; DE Short=PTS2 receptor; DE AltName: Full=Peroxin-7; GN Name=PEX7; Synonyms=PTS2R; 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]. RX MEDLINE=97245715; PubMed=9090383; DOI=10.1038/ng0497-381; RA Purdue P.E., Zhang J.W., Skoneczny M., Lazarow P.B.; RT "Rhizomelic chondrodysplasia punctata is caused by deficiency of human RT PEX7, a homologue of the yeast PTS2 receptor."; RL Nat. Genet. 15:381-384(1997). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS RCDP1 ARG-217 AND VAL-218. RC TISSUE=Retina; RX MEDLINE=97245713; PubMed=9090381; DOI=10.1038/ng0497-369; RA Braverman N., Steel G., Obie C., Moser A., Moser H., Gould S.J., RA Valle D.; RT "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible RT for rhizomelic chondrodysplasia punctata."; RL Nat. Genet. 15:369-376(1997). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=20139430; PubMed=10673331; DOI=10.1006/geno.1999.6080; RA Braverman N., Steel G., Lin P., Moser A., Moser H., Valle D.; RT "PEX7 gene structure, alternative transcripts, and evidence for a RT founder haplotype for the frequent RCDP allele, L292ter."; RL Genomics 63:181-192(2000). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Ovary; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP VARIANT RD PRO-14. RX MEDLINE=22428299; PubMed=12522768; DOI=10.1086/346093; RA van den Brink D.M., Brites P., Haasjes J., Wierzbicki A.S., RA Mitchell J., Lambert-Hamill M., de Belleroche J., Jansen G.A., RA Waterham H.R., Wanders R.J.A.; RT "Identification of PEX7 as the second gene involved in Refsum RT disease."; RL Am. J. Hum. Genet. 72:471-477(2003). CC -!- FUNCTION: Binds to the N-terminal PTS2-type peroxisomal targeting CC signal and plays an essential role in peroxisomal protein import. CC -!- SUBUNIT: Interacts with PEX5. CC -!- SUBCELLULAR LOCATION: Peroxisome. Cytoplasm. CC -!- TISSUE SPECIFICITY: Ubiquitous. Highest expression in pancreas, CC skeletal muscle and heart. CC -!- DISEASE: Defects in PEX7 are the cause of peroxisome biogenesis CC disorder complementation group 11 (PBD-CG11) [MIM:601757]. PBD CC refers to a group of peroxisomal disorders arising from a failure CC of protein import into the peroxisomal membrane or matrix. The PBD CC group is comprised of four disorders: Zellweger syndrome (ZWS), CC neonatal adrenoleukodystrophy (NALD), infantile Refsum disease CC (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). CC ZWS, NALD and IRD are distinct from RCDP and constitute a clinical CC continuum of overlapping phenotypes known as the Zellweger CC spectrum. The PBD group is genetically heterogeneous with at least CC 13 distinct genetic groups as concluded from complementation CC studies. CC -!- DISEASE: Defects in PEX7 are the cause of rhizomelic CC chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]. RCDP1 is CC characterized by rhizomelic shortening of femur and humerus, CC vertebral disorders, cataract, cutaneous lesions and severe mental CC retardation. CC -!- DISEASE: Defects in PEX7 are a cause of Refsum disease (RD) CC [MIM:266500]; also known as phytanic acid oxidase deficiency. RD CC is clinically characterized by a tetrad of abnormalities: CC retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, CC and elevated protein levels in the cerebrospinal fluid (CSF). CC Patients exhibit accumulation of the branched-chain fatty acid, CC phytanic acid, in blood and tissues. Less constant features are CC nerve deafness, anosmia, skeletal abnormalities, ichthyosis, CC cataracts and cardiac impairment. Manifestations of the disease CC appear in the second or third decade of life. CC -!- SIMILARITY: Belongs to the WD repeat peroxin-7 family. CC -!- SIMILARITY: Contains 6 WD repeats. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX7"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U88871; AAC51238.1; -; mRNA. DR EMBL; U76560; AAB50556.1; -; mRNA. DR EMBL; AF180814; AAF37350.1; -; Genomic_DNA. DR EMBL; AF180806; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180807; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180808; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180809; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180810; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180811; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180812; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; AF180813; AAF37350.1; JOINED; Genomic_DNA. DR EMBL; BC006268; AAH06268.1; -; mRNA. DR IPI; IPI00012577; -. DR RefSeq; NP_000279.1; -. DR UniGene; Hs.280932; -. DR STRING; O00628; -. DR TCDB; 9.A.5.1.1; peroxisomal protein importer (PPI) family. DR PRIDE; O00628; -. DR Ensembl; ENST00000318471; ENSP00000315680; ENSG00000112357; Homo sapiens. DR GeneID; 5191; -. DR KEGG; hsa:5191; -. DR UCSC; uc003qhd.1; human. DR CTD; 5191; -. DR GeneCards; GC06P137185; -. DR H-InvDB; HIX0022916; -. DR HGNC; HGNC:8860; PEX7. DR MIM; 215100; phenotype. DR MIM; 266500; phenotype. DR MIM; 601539; phenotype. DR MIM; 601757; gene. DR Orphanet; 177; Chondrodysplasia punctata, rhizomelic type. DR Orphanet; 773; Refsum disease. DR PharmGKB; PA33202; -. DR HOGENOM; O00628; -. DR HOVERGEN; O00628; -. DR OMA; ACLTIPA; -. DR OrthoDB; EOG9ZCWQN; -. DR NextBio; 20076; -. DR ArrayExpress; O00628; -. DR Bgee; O00628; -. DR CleanEx; HS_PEX7; -. DR Genevestigator; O00628; -. DR GermOnline; ENSG00000112357; Homo sapiens. DR GO; GO:0005777; C:peroxisome; TAS:ProtInc. DR GO; GO:0005053; F:peroxisome matrix targeting signal-2 binding; IDA:UniProtKB. DR GO; GO:0008611; P:ether lipid biosynthetic process; IMP:UniProtKB. DR GO; GO:0016558; P:protein import into peroxisome matrix; IMP:UniProtKB. DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW. DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW. DR InterPro; IPR020472; G-protein_beta_WD-40_rep_reg. DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom. DR InterPro; IPR001680; WD40_repeat. DR InterPro; IPR011046; WD40_repeat-like_dom. DR InterPro; IPR019782; WD40_repeat_2. DR InterPro; IPR019775; WD40_repeat_CS. DR InterPro; IPR017986; WD40_repeat_dom. DR InterPro; IPR019781; WD40_repeat_sg. DR Gene3D; G3DSA:2.130.10.10; WD40/YVTN_repeat-like; 1. DR Pfam; PF00400; WD40; 6. DR PRINTS; PR00320; GPROTEINBRPT. DR SMART; SM00320; WD40; 6. DR PROSITE; PS00678; WD_REPEATS_1; 3. DR PROSITE; PS50082; WD_REPEATS_2; 4. DR PROSITE; PS50294; WD_REPEATS_REGION; 1. PE 1: Evidence at protein level; KW Cataract; Complete proteome; Cytoplasm; Deafness; Disease mutation; KW Ichthyosis; Peroxisome; Peroxisome biogenesis disorder; Polymorphism; KW Protein transport; Repeat; Retinitis pigmentosa; KW Rhizomelic chondrodysplasia punctata; Sensory transduction; Transport; KW Vision; WD repeat. FT CHAIN 1 323 Peroxisomal targeting signal 2 receptor. FT /FTId=PRO_0000051116. FT REPEAT 65 96 WD 1. FT REPEAT 109 141 WD 2. FT REPEAT 153 184 WD 3. FT REPEAT 196 227 WD 4. FT REPEAT 240 271 WD 5. FT REPEAT 284 315 WD 6. FT VARIANT 14 14 T -> P (in RD). FT /FTId=VAR_016810. FT VARIANT 217 217 G -> R (in RCDP1; could be a FT polymorphism). FT /FTId=VAR_007725. FT VARIANT 218 218 A -> V (in RCDP1). FT /FTId=VAR_007726. SQ SEQUENCE 323 AA; 35892 MW; D405387F7F14B432 CRC64; MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT QVADCSWDET IKIYDPACLT IPA //