LOCUS       NM_003630               2750 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.
ACCESSION   NM_003630
VERSION     NM_003630.3
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 2750)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   2  (bases 1 to 2750)
  AUTHORS   Trepte,P., Secker,C., Kostova,S., Maseko,S.B., Choi,S.G.,
            Blavier,J., Minia,I., Ramos,E.S., Cassonnet,P., Golusik,S.,
            Zenkner,M., Beetz,S., Liebich,M.J., Scharek,N., Schutz,A.,
            Sperling,M., Lisurek,M., Wang,Y., Spirohn,K., Hao,T.,
            Calderwood,M.A., Hill,D.E., Landthaler,M., Olivet,J., Twizere,J.C.,
            Vidal,M. and Wanker,E.E.
  TITLE     AI-guided pipeline for protein-protein interaction drug discovery
            identifies a SARS-CoV-2 inhibitor
  JOURNAL   bioRxiv (2023)
   PUBMED   37398436
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2750)
  AUTHORS   Takashima,S., Fujita,H., Toyoshi,K., Ohba,A., Hirata,Y.,
            Shimozawa,N. and Oh-Hashi,K.
  TITLE     Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the
            oscillating nature of peroxisome biogenesis coupled with
            differential metabolic activities
  JOURNAL   Mol Genet Metab 137 (1-2), 68-80 (2022)
   PUBMED   35932552
  REMARK    GeneRIF: Hypomorphic mutation of PEX3 with peroxisomal mosaicism
            reveals the oscillating nature of peroxisome biogenesis coupled
            with differential metabolic activities.
REFERENCE   4  (bases 1 to 2750)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 2750)
  AUTHORS   Muntau,A.C., Holzinger,A., Mayerhofer,P.U., Gartner,J.,
            Roscher,A.A. and Kammerer,S.
  TITLE     The human PEX3 gene encoding a peroxisomal assembly protein:
            genomic organization, positional mapping, and mutation analysis in
            candidate phenotypes
  JOURNAL   Biochem Biophys Res Commun 268 (3), 704-710 (2000)
   PUBMED   10679269
REFERENCE   6  (bases 1 to 2750)
  AUTHORS   Soukupova,M., Sprenger,C., Gorgas,K., Kunau,W.H. and Dodt,G.
  TITLE     Identification and characterization of the human peroxin PEX3
  JOURNAL   Eur J Cell Biol 78 (6), 357-374 (1999)
   PUBMED   10430017
REFERENCE   7  (bases 1 to 2750)
  AUTHORS   South,S.T. and Gould,S.J.
  TITLE     Peroxisome synthesis in the absence of preexisting peroxisomes
  JOURNAL   J Cell Biol 144 (2), 255-266 (1999)
   PUBMED   9922452
REFERENCE   8  (bases 1 to 2750)
  AUTHORS   Kammerer,S., Holzinger,A., Welsch,U. and Roscher,A.A.
  TITLE     Cloning and characterization of the gene encoding the human
            peroxisomal assembly protein Pex3p
  JOURNAL   FEBS Lett 429 (1), 53-60 (1998)
   PUBMED   9657383
REFERENCE   9  (bases 1 to 2750)
  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 2750)
  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 BP377713.1, BC015506.1,
            AL031320.6, DB576209.1 and AU137342.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003630.2.
            
            Summary: The product of this gene is involved in peroxisome
            biosynthesis and integrity. It assembles membrane vesicles before
            the matrix proteins are translocated. 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 Zellweger syndrome (ZWS). [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 :: SRR1660809.32283.1,
                                           SRR1660807.49945.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367591.5/ ENSP00000356563.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                BP377713.1         25-101
            78-1503             BC015506.1         1-1426
            1504-1832           AL031320.6         108997-109325
            1833-2143           DB576209.1         187-497
            2144-2631           AU137342.1         192-679
            2632-2750           AL031320.6         110125-110243
FEATURES             Location/Qualifiers
     source          1..2750
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.2"
     gene            1..2750
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="peroxisomal biogenesis factor 3"
                     /db_xref="GeneID:8504"
                     /db_xref="HGNC:HGNC:8858"
                     /db_xref="MIM:603164"
     exon            1..311
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..1360
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="transformation-related protein 18; peroxin-3;
                     peroxisomal assembly protein PEX3"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 3"
                     /protein_id="NP_003621.1"
                     /db_xref="CCDS:CCDS5199.1"
                     /db_xref="GeneID:8504"
                     /db_xref="HGNC:HGNC:8858"
                     /db_xref="MIM:603164"
                     /translation="MLRSVWNFLKRHKKKCIFLGTVLGGVYILGKYGQKKIREIQERE
                     AAEYIAQARRQYHFESNQRTCNMTVLSMLPTLREALMQQLNSESLTALLKNRPSNKLE
                     IWEDLKIISFTRSTVAVYSTCMLVVLLRVQLNIIGGYIYLDNAAVGKNGTTILAPPDV
                     QQQYLSSIQHLLGDGLTELITVIKQAVQKVLGSVSLKHSLSLLDLEQKLKEIRNLVEQ
                     HKSSSWINKDGSKPLLCHYMMPDEETPLAVQACGLSPRDITTIKLLNETRDMLESPDF
                     STVLNTCLNRGFSRLLDNMAEFFRPTEQDLQHGNSMNSLSSVSLPLAKIIPIVNGQIH
                     SVCSETPSHFVQDLLTMEQVKDFAANVYEAFSTPQQLEK"
     exon            312..443
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            444..525
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            526..569
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            570..694
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            695..761
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            762..816
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            817..985
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1056
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1179
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1276
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..2750
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1477..1482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="hexamer: AATAAA"
     polyA_site      1503
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="major polyA site"
     regulatory      1848..1853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="hexamer: AATAAA"
     polyA_site      1867
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
     regulatory      2123..2128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="hexamer: AATAAA"
     polyA_site      2144
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="major polyA site"
     regulatory      2398..2403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="hexamer: AATAAA"
     polyA_site      2419
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
     regulatory      2726..2731
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
                     /note="hexamer: AATAAA"
     polyA_site      2750
                     /gene="PEX3"
                     /gene_synonym="PBD10A; PBD10B; TRG18"
ORIGIN      
        1 agtgagcggc ggcggctgcg cggcggcagc ggcagaaagc gtagctgctt tgctgtagtc
       61 cacgccccct tgccgctccg gtgacagtct ctgcggaaag tcacgtttgt gatttcggga
      121 gagcacagaa cgggacgacg gcgctcttgc tgggtcatct gggccaggtg acgaagaaac
      181 agtttcctgg tgaagcagtc cctcacccct agtcagccca cacccctagg gcctaaagat
      241 gctgaggtct gtatggaatt ttctgaaacg ccacaaaaag aaatgcatct tcctgggcac
      301 ggtccttgga ggagtatata ttctggggaa atatggacag aagaaaatca gagaaataca
      361 ggaaagggag gctgcagaat acattgccca agcacgacga caatatcatt ttgaaagtaa
      421 ccagaggact tgcaatatga cagtgctgtc catgcttcca acactgagag aggccttaat
      481 gcagcaactg aattccgaga gcctcacagc tctgctaaaa aacaggcctt caaacaagct
      541 agaaatatgg gaggatctga agataataag tttcacaaga agtactgtgg ctgtatacag
      601 tacctgtatg ctggttgttc ttttgcgggt ccagttaaac ataattggtg gatatattta
      661 cctggataat gcagcagttg gcaaaaatgg cactacaatt cttgctcccc cagatgtcca
      721 acagcagtat ttatcaagta ttcagcacct acttggagat ggcctgacag aattgatcac
      781 tgtcattaaa caagctgtgc agaaggtttt aggaagtgtt tctcttaaac attctttgtc
      841 ccttttggac ttggagcaaa aactaaaaga aatcagaaat ctcgttgagc agcataagtc
      901 ttcttcttgg attaataaag atggatccaa acctttatta tgccattata tgatgccaga
      961 tgaagaaact ccattagcag tgcaggcctg tggactttct cctcgagaca ttaccactat
     1021 taaacttctc aatgaaacta gagacatgtt ggaaagccca gattttagta cagttttgaa
     1081 tacctgttta aaccgaggtt ttagtagact tctagacaat atggctgagt tctttcgacc
     1141 tactgaacag gacctgcaac atggtaactc tatgaatagt ctttccagtg tcagcctgcc
     1201 tttagctaag ataattccaa tagtaaacgg acagatccat tcagtttgca gtgaaacacc
     1261 tagtcatttt gttcaggatc tgttgacaat ggagcaagtg aaagactttg ctgctaatgt
     1321 gtatgaagct tttagtaccc ctcagcaact ggagaaatga tttttccttc aagaaaaact
     1381 acagtgggat tcatttactt tttaaaatac actgggtaaa tcacctatac ttagagtaac
     1441 agtttgttat caaaatgcct gataaaatat attcttaata aaagtcttca tttcataatg
     1501 aaatcaattt atttggcatc ttaatatatt tttttagatt catcaacaga ccagtttttg
     1561 tgggcatata tatatacacg tgcaaatatc agaattgtta ataatttgtt acacatggac
     1621 atttgttcca aactgactaa aaatcaatat agatatttta tatacatata tatatataaa
     1681 aatacaaaat tcagtgtact ttaccatatt aatactgagg aaaaatctgt tggagacata
     1741 ggtctaggat gtgtgaagtt tggaaaaata tgctatttaa ttataatgtt ccctagactg
     1801 ctgtaaacag aagtgaatca gacttttctc cagctacctt tcaaaataat aaattatttg
     1861 tctcaaatat accttgatgg aggacttttt tattcttatg gaaatagtga attccaacaa
     1921 ctatgatgaa ctatgttctt tgctatttct tcactatatt ttttaaggtt ttattaaaaa
     1981 gccttagaaa gttacatatt ggtttagagg ctaaaattgt gttgatgctg tttactcacc
     2041 taattacata gttttaatca tttgtacata attttaaaaa cttactttgt attgattttg
     2101 aatacagtga aaatcttatt gcaataaact attttagtaa aatattattt tgttgagtta
     2161 atatttttca gctattaatt tacttatccc atagcatttt tgttattatt tcggaagaga
     2221 gagcatgcta gtttaagttt cattttaatt ggtcgtgtac ttggtgcttt tttgttgttg
     2281 ttaacttgtt catttagtaa aaagcaaata gctttacttt ctgaaaaaga aataattcat
     2341 tatctctagt aatacatctg taattcttca tttagaaggg taattagggc aaaagtaaat
     2401 aaatcattat atatcattag tatgttgaca tatattttca gtaacattgt tttatgttcc
     2461 tccagcgtaa catgtagctg aacagtagaa ggtagaaaat aaattatgac atctcttcta
     2521 aggcctggct aggcctgaag ctcactgcca gggagtttgt gtctagaatg tttttaaaaa
     2581 taggtagtgg agccatagcc ctcaccatag acacctctga gcccactggc attgtctctg
     2641 agcagaagat ggctgtgcca ctcacatatg ctaatcttgg caaatctgcc aagcatgtct
     2701 tcaccaaggg atatggattt ggcttaataa aacctgattt gaaaacaaaa
//
