LOCUS       NM_001351132            3237 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript
            variant 13, mRNA.
ACCESSION   NM_001351132 XM_011520797
VERSION     NM_001351132.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3237)
  AUTHORS   Qin,X., Wang,B., Lu,X., Song,Y. and Wang,W.
  TITLE     Identification and Validation of a PEX5-Dependent Signature for
            Prognostic Prediction in Glioma
  JOURNAL   Biomolecules 14 (3), 314 (2024)
   PUBMED   38540734
  REMARK    GeneRIF: Identification and Validation of a PEX5-Dependent
            Signature for Prognostic Prediction in Glioma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3237)
  AUTHORS   Niu,X., Wu,T., Li,G., Gu,X., Tian,Y. and Cui,H.
  TITLE     Insights into the critical role of the PXR in preventing
            carcinogenesis and chemotherapeutic drug resistance
  JOURNAL   Int J Biol Sci 18 (2), 742-759 (2022)
   PUBMED   35002522
  REMARK    GeneRIF: Insights into the critical role of the PXR in preventing
            carcinogenesis and chemotherapeutic drug resistance.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3237)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 3237)
  AUTHORS   Reuter,M., Kooshapur,H., Suda,J.G., Gaussmann,S., Neuhaus,A.,
            Bruhl,L., Bharti,P., Jung,M., Schliebs,W., Sattler,M. and
            Erdmann,R.
  TITLE     Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal
            Protein Import and Motility
  JOURNAL   J Mol Biol 433 (5), 166765 (2021)
   PUBMED   33484719
  REMARK    GeneRIF: Competitive Microtubule Binding of PEX14 Coordinates
            Peroxisomal Protein Import and Motility.
REFERENCE   5  (bases 1 to 3237)
  AUTHORS   Marynen,P., Fransen,M., Raeymaekers,P., Mannaerts,G.P. and Van
            Veldhoven,P.P.
  TITLE     The gene for the peroxisomal targeting signal import receptor
            (PXR1) is located on human chromosome 12p13, flanked by TPI1 and
            D12S1089
  JOURNAL   Genomics 30 (2), 366-368 (1995)
   PUBMED   8586442
REFERENCE   6  (bases 1 to 3237)
  AUTHORS   Wiemer,E.A., Nuttley,W.M., Bertolaet,B.L., Li,X., Francke,U.,
            Wheelock,M.J., Anne,U.K., Johnson,K.R. and Subramani,S.
  TITLE     Human peroxisomal targeting signal-1 receptor restores peroxisomal
            protein import in cells from patients with fatal peroxisomal
            disorders
  JOURNAL   J Cell Biol 130 (1), 51-65 (1995)
   PUBMED   7790377
REFERENCE   7  (bases 1 to 3237)
  AUTHORS   Fransen,M., Brees,C., Baumgart,E., Vanhooren,J.C., Baes,M.,
            Mannaerts,G.P. and Van Veldhoven,P.P.
  TITLE     Identification and characterization of the putative human
            peroxisomal C-terminal targeting signal import receptor
  JOURNAL   J Biol Chem 270 (13), 7731-7736 (1995)
   PUBMED   7706321
REFERENCE   8  (bases 1 to 3237)
  AUTHORS   Dodt,G., Braverman,N., Wong,C., Moser,A., Moser,H.W., Watkins,P.,
            Valle,D. and Gould,S.J.
  TITLE     Mutations in the PTS1 receptor gene, PXR1, define complementation
            group 2 of the peroxisome biogenesis disorders
  JOURNAL   Nat Genet 9 (2), 115-125 (1995)
   PUBMED   7719337
REFERENCE   9  (bases 1 to 3237)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 3237)
  AUTHORS   Steinberg,S.J., Raymond,G.V., Braverman,N.E. and Moser,A.B.
  TITLE     Zellweger Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018653.29.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 7, 2019 this sequence version replaced NM_001351132.1.
            
            Summary: The product of this gene binds to the C-terminal PTS1-type
            tripeptide peroxisomal targeting signal (SKL-type) and plays an
            essential role in peroxisomal protein import. Peroxins (PEXs) are
            proteins that are essential for the assembly of functional
            peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group
            of genetically heterogeneous autosomal recessive, lethal diseases
            characterized by multiple defects in peroxisome function. The
            peroxisomal biogenesis disorders are a heterogeneous group with at
            least 14 complementation groups and with more than 1 phenotype
            being observed in cases falling into particular complementation
            groups. Although the clinical features of PBD patients vary, cells
            from all PBD patients exhibit a defect in the import of one or more
            classes of peroxisomal matrix proteins into the organelle. Defects
            in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a
            cause of Zellweger syndrome (ZWS) as well as may be a cause of
            infantile Refsum disease (IRD). Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853566.5851.1,
                                           SRR14038193.79993.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675855.1/ ENSP00000502374.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                AC018653.29        75096-75160         c
            66-228              AC018653.29        74322-74484         c
            229-264             AC018653.29        73923-73958         c
            265-397             AC018653.29        73488-73620         c
            398-529             AC018653.29        73146-73277         c
            530-632             AC018653.29        65733-65835         c
            633-723             AC018653.29        63005-63095         c
            724-834             AC018653.29        62495-62605         c
            835-927             AC018653.29        62142-62234         c
            928-1047            AC018653.29        61295-61414         c
            1048-1191           AC018653.29        57044-57187         c
            1192-1262           AC018653.29        56766-56836         c
            1263-1475           AC018653.29        56177-56389         c
            1476-1641           AC018653.29        55676-55841         c
            1642-1799           AC018653.29        55006-55163         c
            1800-3237           AC018653.29        53387-54824         c
FEATURES             Location/Qualifiers
     source          1..3237
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..3237
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /note="peroxisomal biogenesis factor 5"
                     /db_xref="GeneID:5830"
                     /db_xref="HGNC:HGNC:9719"
                     /db_xref="MIM:600414"
     exon            1..65
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            66..228
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..2001
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /note="isoform d is encoded by transcript variant 13;
                     peroxisome receptor 1; peroxisomal targeting signal 1
                     receptor; peroxisomal targeting signal receptor 1;
                     peroxisomal C-terminal targeting signal import receptor;
                     peroxisomal targeting signal 1 (SKL type) receptor;
                     peroxin-5; peroxisomal targeting signal import receptor;
                     PTS1 receptor; peroxisomal import receptor 5"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 5 isoform d"
                     /protein_id="NP_001338061.1"
                     /db_xref="CCDS:CCDS44823.1"
                     /db_xref="GeneID:5830"
                     /db_xref="HGNC:HGNC:9719"
                     /db_xref="MIM:600414"
                     /translation="MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGA
                     PASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQA
                     PQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWA
                     EEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKF
                     VRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFER
                     AKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRD
                     HPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISAL
                     RRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGA
                     GLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAV
                     DCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISC
                     INLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAAD
                     ARDLSTLLTMFGLPQ"
     exon            229..264
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            265..397
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            398..529
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            530..632
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            633..723
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            724..834
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            835..927
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1047
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1191
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1262
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1475
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1641
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1799
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..3237
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3208..3213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /note="hexamer: AATAAA"
     polyA_site      3237
                     /gene="PEX5"
                     /gene_synonym="PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5"
                     /note="major polyA site"
ORIGIN      
        1 ctcttctccc ctcccccaag ccagcacctg gtgccccggc gggtcgtgcg gcgcggcgct
       61 ccgcgagagc tggcggtcac catggcaatg cgggagctgg tggaggccga atgcgggggt
      121 gccaacccgc tcatgaagct cgccgggcac ttcacccagg acaaggccct tcggcaggag
      181 ggattgaggc ctggcccctg gccccccgga gccccggcct ctgaggcagc ctccaagcct
      241 ttgggagtag cttctgaaga tgagttggtg gctgaattcc tgcaggacca gaatgcaccc
      301 cttgtgtccc gtgcccctca gaccttcaag atggatgacc tcctggctga gatgcagcag
      361 attgagcagt caaacttccg ccaggctccc cagagagccc ctggtgtggc agacttggcc
      421 ttgtctgaga actgggccca ggagtttctt gcagctggag atgctgtgga tgtaactcag
      481 gattataatg agactgactg gtcccaagaa ttcatctctg aagttacaga ccccttgtct
      541 gtgtcccctg cccgctgggc tgaggaatat ttggagcaat cagaggagaa gctgtggctg
      601 ggagaacctg agggaacagc caccgatcgc tggtatgatg aatatcatcc tgaggaggat
      661 ctgcagcaca cggccagtga ctttgtggcc aaagtggatg accccaaatt ggctaattct
      721 gagttcctga aattcgtgcg gcagattggc gaagggcagg tgtccctgga gtccggtgca
      781 gggtcgggcc gagctcaggc agaacagtgg gcagcagagt ttatacagca gcagggtaca
      841 tcagatgcct gggttgacca gttcacaaga ccagtaaaca catctgccct tgatatggag
      901 tttgaacgag ccaagtcagc tatagagtct gatgtcgatt tctgggacaa gttgcaggca
      961 gagttggagg agatggcaaa acgggatgct gaggcccacc cctggctttc tgactatgat
     1021 gaccttacgt cagctaccta tgataagggg taccagtttg aggaggagaa ccccttgcgt
     1081 gatcaccctc agccttttga agaagggctg cggcgccttc aggaggggga cctgccaaat
     1141 gctgtgctgc tttttgaggc agctgtgcag caggatccta agcacatgga agcttggcag
     1201 tatctgggta ccacccaggc agagaatgaa caagaactat tagccatcag tgcattgcgg
     1261 aggtgtctgg agctaaagcc agataaccag acagcactga tggcgctggc tgtgagcttc
     1321 accaacgagt ccctgcagcg acaggcctgt gaaaccctac gagactggct gcggtacaca
     1381 ccagcctatg cccatctggt gacacctgct gaagaagggg ctggtggggc aggactgggc
     1441 cccagcaagc gtatcctggg atctctcttg tctgactccc tgtttcttga agtgaaagag
     1501 ctcttcctgg cagctgtgcg gctggaccct acctccattg accctgatgt gcagtgtggc
     1561 ttgggagtcc ttttcaacct gagtggggag tatgacaagg ccgtggactg cttcacagct
     1621 gccctcagcg ttcgtcccaa tgactatttg ctgtggaata agctaggcgc caccctggcc
     1681 aatggaaacc agagtgaaga agcagtagct gcgtaccgcc gggccctcga gctccagcct
     1741 ggctatatcc ggtcccgcta taacctgggc atcagctgca tcaacctcgg ggctcaccgg
     1801 gaggctgtgg agcactttct ggaggccctg aacatgcaga ggaaaagccg gggcccccgg
     1861 ggtgaaggag gtgccatgtc ggagaacatc tggagcaccc tgcgtttggc attgtctatg
     1921 ttaggccaga gcgatgccta tggggcagcc gacgcgcggg atctgtccac cctcctaact
     1981 atgtttggcc tgccccagtg acagtgggac gggctgccct gtgagtgtcc acctggaggg
     2041 atccccgctt tggatgtgat tccctctccc caaatgggcc taccaagggg gcgggctgat
     2101 gaccataagc ggtacggcct ttcaggagct gcctcaacgt aggggtgggt agtctgtgtt
     2161 ctagttccta cataattgta ggaaaatgag ctgtgtcatc tctgagtccc ttggtaattc
     2221 aagggctgta catccagcta cagatctctc tgctcatcat gccctttctt ggtgctgctt
     2281 tttgggtagg accccacgat ttagggtaac tgttatcatc agctgccatt tctgataggg
     2341 tctaccacat ctgtaatgtc tgtcctttcc cccactttta ctgggaattg atagtccagc
     2401 ttccttgggc agtgtaagta ggaggttcat ctgctgtgcg cctctaatgt ctgtctggat
     2461 gggatgtgtt aggagttggc ctgttgggtt gaattgttga tttggctgag cagagctgag
     2521 ttttggtagg agtgctcatg gttctgtcat tcttggacct ctcctggctg agctctgatt
     2581 ccctgtgagc acgatgctga tgcaatagtc ctgtgtcatc actgcagcgg tcctcaggag
     2641 ctgccagggc caattgctac agagtgtctg ggtgtgtggc ataggaggaa ggtttgcttg
     2701 tgaaatgagg ctgggtggga gcggggaggg actagatcag aagagatcaa gggctctatt
     2761 caggaacgtt ggtgggagga cagagcaagt gggaaggggg tatggtgagt gcggcaatcc
     2821 ctcatcctct tagaagcacc tgtgaatggg aattgagcca actgttatag aaaattggtt
     2881 cagaaagtgc aatcttgcca gatttctagc aaataggttc agtgttacca taagcctttg
     2941 ctgtacttct tgaaatgttt ctaggggaga gcattggaaa atccccttcc cccatctaga
     3001 tcgaaggaag atgagggagc agcttggatt cttctcagtt gtcccctgca tggggagata
     3061 cactaacccc cagaaatgac tgctaagcct cttgccttgt ctttagtagc taatgatcag
     3121 agagattttt tttttaaact accatggtcc caggattcca tcctgaaatt tatttttctt
     3181 tgtatgaata tgtgtaaatg atttaaaaat aaaactgtaa aatatttgta cgaagaa
//
