LOCUS       NM_000287               3444 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 6 (PEX6), transcript
            variant 1, mRNA.
ACCESSION   NM_000287
VERSION     NM_000287.4
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 3444)
  AUTHORS   Yang,P., Zeng,C.Z., Tao,X.W., Rong,S.W., Long,Y. and Zeng,L.K.
  TITLE     [Zellweger syndrome caused by PEX6 gene variation in 2 cases and
            literature review]
  JOURNAL   Zhonghua Er Ke Za Zhi 62 (1), 43-48 (2024)
   PUBMED   38154976
  REMARK    GeneRIF: [Zellweger syndrome caused by PEX6 gene variation in 2
            cases and literature review].
            Review article
REFERENCE   2  (bases 1 to 3444)
  AUTHORS   Galarreta,C.I., Wong,K., Carmichael,J., Woods,J., Tise,C.G.,
            Niehaus,A.D., Schildt,A.J., Verscaj,C.P. and Cusmano-Ozog,K.P.
  TITLE     A homozygous Gly470Ala variant in PEX6 causes severe Zellweger
            spectrum disorder
  JOURNAL   Am J Med Genet A 191 (8), 2057-2063 (2023)
   PUBMED   37144748
  REMARK    GeneRIF: A homozygous Gly470Ala variant in PEX6 causes severe
            Zellweger spectrum disorder.
REFERENCE   3  (bases 1 to 3444)
  AUTHORS   Daich Varela,M., Jani,P., Zein,W.M., D'Souza,P., Wolfe,L.,
            Chisholm,J., Zalewski,C., Adams,D., Warner,B.M., Huryn,L.A. and
            Hufnagel,R.B.
  TITLE     The peroxisomal disorder spectrum and Heimler syndrome: Deep
            phenotyping and review of the literature
  JOURNAL   Am J Med Genet C Semin Med Genet 184 (3), 618-630 (2020)
   PUBMED   32866347
  REMARK    GeneRIF: The peroxisomal disorder spectrum and Heimler syndrome:
            Deep phenotyping and review of the literature.
REFERENCE   4  (bases 1 to 3444)
  AUTHORS   Garcia-Garcia,G., Sanchez-Navarro,I., Aller,E., Jaijo,T.,
            Fuster-Garcia,C., Rodriguez-Munoz,A., Vallejo,E., Telleria,J.J.,
            Vazquez,S., Beltran,S., Derdak,S., Zurita,O.,
            Villaverde-Montero,C., Avila-Fernandez,A., Corton,M.,
            Blanco-Kelly,F., Hakonarson,H., Millan,J.M. and Ayuso,C.
  TITLE     Exome sequencing identifies PEX6 mutations in three cases diagnosed
            with Retinitis Pigmentosa and hearing impairment
  JOURNAL   Mol Vis 26, 216-225 (2020)
   PUBMED   32214787
  REMARK    GeneRIF: Exome sequencing identifies PEX6 mutations in three cases
            diagnosed with Retinitis Pigmentosa and hearing impairment.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3444)
  AUTHORS   Geisbrecht,B.V., Collins,C.S., Reuber,B.E. and Gould,S.J.
  TITLE     Disruption of a PEX1-PEX6 interaction is the most common cause of
            the neurologic disorders Zellweger syndrome, neonatal
            adrenoleukodystrophy, and infantile Refsum disease
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8630-8635 (1998)
   PUBMED   9671729
REFERENCE   6  (bases 1 to 3444)
  AUTHORS   Tamura,S., Shimozawa,N., Suzuki,Y., Tsukamoto,T., Osumi,T. and
            Fujiki,Y.
  TITLE     A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p
  JOURNAL   Biochem Biophys Res Commun 245 (3), 883-886 (1998)
   PUBMED   9588209
REFERENCE   7  (bases 1 to 3444)
  AUTHORS   Fukuda,S., Shimozawa,N., Suzuki,Y., Zhang,Z., Tomatsu,S.,
            Tsukamoto,T., Hashiguchi,N., Osumi,T., Masuno,M., Imaizumi,K.,
            Kuroki,Y., Fujiki,Y., Orii,T. and Kondo,N.
  TITLE     Human peroxisome assembly factor-2 (PAF-2): a gene responsible for
            group C peroxisome biogenesis disorder in humans
  JOURNAL   Am J Hum Genet 59 (6), 1210-1220 (1996)
   PUBMED   8940266
REFERENCE   8  (bases 1 to 3444)
  AUTHORS   Yahraus,T., Braverman,N., Dodt,G., Kalish,J.E., Morrell,J.C.,
            Moser,H.W., Valle,D. and Gould,S.J.
  TITLE     The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a
            cytoplasmic ATPase required for stability of the PTS1 receptor
  JOURNAL   EMBO J 15 (12), 2914-2923 (1996)
   PUBMED   8670792
REFERENCE   9  (bases 1 to 3444)
  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 3444)
  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 DA462214.1, BC033487.1,
            BQ773648.1 and AL158815.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000287.3.
            
            Summary: This gene encodes a member of the AAA (ATPases associated
            with diverse cellular activities) family of ATPases. This member is
            a predominantly cytoplasmic protein, which plays a direct role in
            peroxisomal protein import and is required for PTS1 (peroxisomal
            targeting signal 1, a C-terminal tripeptide of the sequence
            ser-lys-leu) receptor activity. Mutations in this gene cause
            peroxisome biogenesis disorders of complementation group 4 and
            complementation group 6. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803611.253258.1, BC033487.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304611.13/ ENSP00000303511.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DA462214.1         40-62
            24-3405             BC033487.1         1-3382
            3406-3436           BQ773648.1         17-47               c
            3437-3444           AL158815.14        12562-12569         c
FEATURES             Location/Qualifiers
     source          1..3444
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3444
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="peroxisomal biogenesis factor 6"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
     exon            1..913
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..2974
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxisome assembly factor 2; peroxisomal AAA-type ATPase
                     1; peroxin-6; peroxisomal-type ATPase 1; peroxisomal
                     ATPase PEX6"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 6 isoform 1"
                     /protein_id="NP_000278.3"
                     /db_xref="CCDS:CCDS4877.1"
                     /db_xref="GeneID:5190"
                     /db_xref="HGNC:HGNC:8859"
                     /db_xref="MIM:601498"
                     /translation="MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAG
                     ESPAGPALLVAALEGPDAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPA
                     LGWALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTEL
                     RGRARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLF
                     QGEWVWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPAT
                     LAFNLGCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTN
                     GNYDGVLYRHFQIPRVVQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEA
                     PDGPASAYLADTTHTSLYMVGSTLSPVPWLPSEESTLWSSLSPPGLEALVSELCAVLK
                     PRLQPGGALLTGTSSVLLRGPPGCGKTTVVAAACSHLGLHLLKVPCSSLCAESSGAVE
                     TKLQAIFSRARRCRPAVLLLTAVDLLGRDRDGLGEDARVMAVLRHLLLNEDPLNSCPP
                     LMVVATTSRAQDLPADVQTAFPHELEVPALSEGQRLSILRALTAHLPLGQEVNLAQLA
                     RRCAGFVVGDLYALLTHSSRAACTRIKNSGLAGGLTEEDEGELCAAGFPLLAEDFGQA
                     LEQLQTAHSQAVGAPKIPSVSWHDVGGLQEVKKEILETIQLPLEHPELLSLGLRRSGL
                     LLHGPPGTGKTLLAKAVATECSLTFLSVKGPELINMYVGQSEENVREVFARARAAAPC
                     IIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQDVFVIGATNRPDLLDP
                     ALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVNVLDCCPPQLTGADL
                     YSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQPSVSEQELLRYKR
                     IQRKFAAC"
     exon            914..1077
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1161
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1264
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1398
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1510
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1719
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1915
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1916..1992
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..2125
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2331
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2332..2393
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2394..2502
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2503..2619
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2620..2697
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..2837
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2838..3444
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="hexamer: AATAAA"
     polyA_site      3301
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="major polyA site"
     regulatory      3414..3419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="hexamer: AATAAA"
     polyA_site      3444
                     /gene="PEX6"
                     /gene_synonym="HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PXAAA1"
                     /note="major polyA site"
ORIGIN      
        1 ccttcaccct cctcgttggt gtcctgtcac catggcgctg gctgtcttgc gggtcctgga
       61 gccctttccg accgagacac ccccgttggc agtgctgctg ccacccgggg gcccgtggcc
      121 ggcggcggag ctgggcctgg tgctggccct gaggcctgca ggggagagcc cggcagggcc
      181 ggcgctgctg gtggcagccc tggaggggcc ggacgcgggc accgaagagc agggtcccgg
      241 gccgccgcag ctactggtta gccgcgcgct gctgcggctc ctggcactgg gctccggggc
      301 ctgggtgcgg gcgcgggcgg tgcggcggcc cccggcgcta ggttgggcac tgcttggcac
      361 ctcgctgggg cctgggctcg gaccgcgagt cgggccgctg ctggtgaggc gcggagagac
      421 cctcccagtg cccggaccgc gggtgctgga gacgcggccg gcgttgcaag ggctgctggg
      481 cccagggact cggctggctg tgactgagct ccgcgggcgg gccagactgt gtccagagtc
      541 tggggacagc agtcggcccc cacccccgcc cgtggtgtcc tcctttgcgg tttctggcac
      601 agtgcggcga ctccagggag ttctgggagg gactggagat tcactagggg tgagccggag
      661 ctgtctccgt ggccttggcc tcttccaggg cgaatgggtg tgggtggccc aggccagaga
      721 gtcatcgaac acttcacagc cgcacttggc tagggtgcag gtcctagaac ctcgctggga
      781 cctctctgat agactgggac ccggctctgg accgctggga gagcccctcg ctgacggact
      841 ggcgcttgtc cctgccactt tggcttttaa tcttggctgt gaccccctgg aaatgggaga
      901 gctcagaatt cagaggtact tggaaggctc catcgcccct gaagacaaag gaagctgctc
      961 attgctgcct gggcctccat ttgccagaga gttacacatc gaaattgtgt cttctcccca
     1021 ctacagcact aatggaaatt atgacggtgt tctttaccgg cactttcaga tacccagggt
     1081 agtccaggaa ggggatgttc tatgtgtgcc aacaattggg caagtagaga tcctggaagg
     1141 aagtccagag aaactgccca ggtggcggga aatgtttttt aaagtgaaga aaacagttgg
     1201 ggaagctcca gatggaccag ccagtgccta cttggccgac accacccata cctccttgta
     1261 catggtgggt tctaccctga gccctgttcc atggctccct tcagaggaat ccactctctg
     1321 gagcagtttg tctcctccag gcctggaggc cttggtgtct gaactctgtg ctgtcctgaa
     1381 gcctcgcctc cagccagggg gtgccctgct gacaggaact agcagtgtcc ttctacgggg
     1441 ccccccaggc tgtgggaaga ccacagtagt tgctgctgcc tgtagtcacc ttgggctcca
     1501 cttactgaag gtgccctgct ccagcctctg tgcagaaagt agtggggctg tggagacaaa
     1561 actgcaggcc atcttctccc gggcccgccg ttgccggcct gcagtcctgt tgctcacagc
     1621 tgtggacctt ctgggccggg accgtgatgg gctgggtgag gatgcccgtg tgatggctgt
     1681 gctgcgtcac ctcctcctca atgaggaccc cctcaacagc tgccctcccc tcatggttgt
     1741 ggccaccaca agccgggccc aggacctgcc tgctgatgtg cagacagcat ttcctcatga
     1801 gctcgaggtg cctgctctgt cagaggggca gcggctcagc atcctgcggg ccctcactgc
     1861 ccaccttccc ctgggccagg aggtgaactt ggcacagcta gcacggcggt gtgcaggctt
     1921 tgtggtaggg gatctctatg cccttctgac ccacagcagc cgggcagcct gcaccaggat
     1981 caagaactca ggtttggcag gtggcttgac tgaggaggat gagggggagc tgtgtgctgc
     2041 cggctttcct ctcctggctg aggactttgg gcaggcactg gagcaactgc agacagctca
     2101 ctcccaggcc gttggagccc ccaagatccc ctcagtgtcc tggcatgatg tgggtgggct
     2161 gcaggaggtg aagaaggaga tcctggagac cattcagctc cccctggagc accctgagct
     2221 actgagcctg ggcctgagac gctcaggcct tctgctccat gggccccctg gcaccggcaa
     2281 gacccttctg gccaaggcag tagccactga gtgcagcctt accttcctca gcgtgaaggg
     2341 gccagagctc attaacatgt atgtgggcca aagtgaggag aatgtgcggg aagtgtttgc
     2401 cagggccagg gctgcagctc catgcattat cttctttgat gaactggact ctttggcccc
     2461 aagccggggg cgaagtggag attctggagg agtgatggac agggtggtgt ctcagctcct
     2521 tgccgagcta gatgggctgc acagcactca ggatgtgttt gtgattggag ccaccaacag
     2581 accagatctc ctggaccctg cccttctgcg gcctggcaga tttgacaagc tggtgtttgt
     2641 gggggcaaat gaggaccggg cctcccagct acgcgttcta agtgccatca cacgcaaatt
     2701 caagctagag ccatctgtga gcctggtaaa cgtgctagat tgctgccctc cccagctgac
     2761 gggcgcggac ctctactctc tctgctctga tgctatgaca gctgccctca aacgcagggt
     2821 tcatgacctg gaggaagggc tggagccagg tagctcagca ctgatgctca ccatggagga
     2881 cttgctgcag gctgccgccc ggctgcaacc ctcagtcagt gagcaggagc tgctccggta
     2941 caagcgcatc cagcgcaagt ttgctgcctg ctaggagccc cccagggtct gggaccccgc
     3001 tcagcatggc tgcaggtacc ttgatagccc acagagagat ctgggaagga agggctcctc
     3061 ctcaggctgc tgccaaccca cctggaggcc acctccctcc aggagatccc agggtgcaaa
     3121 gtggcattga gacagcagca acagctcaag agatatctcc tgcctacttg cccctccttc
     3181 caggccggct ctaagagaaa ggcccatcta ctcaggaaga gggccagggc cttgggttct
     3241 ggggattggg ccctgagagg gctagttctg tggctgaaaa taaagcatgt cccgccccct
     3301 actggtgttg tggcatgaaa ggttggagtg agaaagagca gggttgtggg aggagtaagc
     3361 cctgggagag ggtggggggg tgggcagcat gggagcctga tccttctgac ataaataaac
     3421 acaatgcatg caggaactga aaaa
//
