LOCUS       NM_000318               4169 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript
            variant 1, mRNA.
ACCESSION   NM_000318
VERSION     NM_000318.3
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 4169)
  AUTHORS   Feng,P., Wu,X., Erramilli,S.K., Paulo,J.A., Knejski,P., Gygi,S.P.,
            Kossiakoff,A.A. and Rapoport,T.A.
  TITLE     A peroxisomal ubiquitin ligase complex forms a retrotranslocation
            channel
  JOURNAL   Nature 607 (7918), 374-380 (2022)
   PUBMED   35768507
REFERENCE   2  (bases 1 to 4169)
  AUTHORS   Ding,L., Sun,W., Balaz,M., He,A., Klug,M., Wieland,S., Caiazzo,R.,
            Raverdy,V., Pattou,F., Lefebvre,P., Lodhi,I.J., Staels,B., Heim,M.
            and Wolfrum,C.
  TITLE     Peroxisomal beta-oxidation acts as a sensor for intracellular fatty
            acids and regulates lipolysis
  JOURNAL   Nat Metab 3 (12), 1648-1661 (2021)
   PUBMED   34903883
REFERENCE   3  (bases 1 to 4169)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4169)
  AUTHORS   Biermanns,M. and Gartner,J.
  TITLE     Genomic organization and characterization of human PEX2 encoding a
            35-kDa peroxisomal membrane protein
  JOURNAL   Biochem Biophys Res Commun 273 (3), 985-990 (2000)
   PUBMED   10891359
REFERENCE   5  (bases 1 to 4169)
  AUTHORS   Distel,B., Erdmann,R., Gould,S.J., Blobel,G., Crane,D.I.,
            Cregg,J.M., Dodt,G., Fujiki,Y., Goodman,J.M., Just,W.W., Kiel,J.A.,
            Kunau,W.H., Lazarow,P.B., Mannaerts,G.P., Moser,H.W., Osumi,T.,
            Rachubinski,R.A., Roscher,A., Subramani,S., Tabak,H.F.,
            Tsukamoto,T., Valle,D., van der Klei,I., van Veldhoven,P.P. and
            Veenhuis,M.
  TITLE     A unified nomenclature for peroxisome biogenesis factors
  JOURNAL   J Cell Biol 135 (1), 1-3 (1996)
   PUBMED   8858157
  REMARK    Review article
REFERENCE   6  (bases 1 to 4169)
  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   7  (bases 1 to 4169)
  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
REFERENCE   8  (bases 1 to 4169)
  AUTHORS   Patarca,R. and Fletcher,M.A.
  TITLE     Ring finger in the peroxisome assembly factor-1
  JOURNAL   FEBS Lett 312 (1), 1-2 (1992)
   PUBMED   1426230
REFERENCE   9  (bases 1 to 4169)
  AUTHORS   Shimozawa,N., Tsukamoto,T., Suzuki,Y., Orii,T., Shirayoshi,Y.,
            Mori,T. and Fujiki,Y.
  TITLE     A human gene responsible for Zellweger syndrome that affects
            peroxisome assembly
  JOURNAL   Science 255 (5048), 1132-1134 (1992)
   PUBMED   1546315
  REMARK    GeneRIF: The cause of the syndrome in this patient was a point
            mutation that resulted in the premature termination of peroxisome
            assembly factor-1.
REFERENCE   10 (bases 1 to 4169)
  AUTHORS   Tsukamoto,T., Miura,S. and Fujiki,Y.
  TITLE     Restoration by a 35K membrane protein of peroxisome assembly in a
            peroxisome-deficient mammalian cell mutant
  JOURNAL   Nature 350 (6313), 77-81 (1991)
   PUBMED   1750930
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090810.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000318.2.
            
            Summary: This gene encodes an integral peroxisomal membrane protein
            required for peroxisome biogenesis. The protein is thought to be
            involved in peroxisomal matrix protein import. Mutations in this
            gene result in one form of Zellweger syndrome and infantile Refsum
            disease. Alternative splicing results in multiple transcript
            variants encoding the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) and variants 2, 3 and 4 encode
            the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660803.161192.1,
                                           SRR1803614.217628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357039.9/ ENSP00000349543.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AC090810.14        46291-46379         c
            90-121              AC090810.14        34608-34639         c
            122-231             AC090810.14        32488-32597         c
            232-4169            AC090810.14        26559-30496         c
FEATURES             Location/Qualifiers
     source          1..4169
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..4169
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="peroxisomal biogenesis factor 2"
                     /db_xref="GeneID:5828"
                     /db_xref="HGNC:HGNC:9717"
                     /db_xref="MIM:170993"
     exon            1..89
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /inference="alignment:Splign:2.1.0"
     exon            90..121
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /inference="alignment:Splign:2.1.0"
     exon            122..231
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /inference="alignment:Splign:2.1.0"
     exon            232..4169
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..1166
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /EC_number="2.3.2.27"
                     /EC_number="2.3.2.36"
                     /note="peroxisomal membrane protein 3, 35kDa; RING finger
                     protein 72; peroxisome assembly factor 1; 35 kDa
                     peroxisomal membrane protein"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 2"
                     /protein_id="NP_000309.2"
                     /db_xref="CCDS:CCDS6221.1"
                     /db_xref="GeneID:5828"
                     /db_xref="HGNC:HGNC:9717"
                     /db_xref="MIM:170993"
                     /translation="MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGF
                     KPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQ
                     KIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
                     GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKA
                     KLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDV
                     YFTCPKCGTEVHSLQPLKSGIEMSEVNAL"
     regulatory      1484..1489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: GATAAA"
     polyA_site      1506
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="major polyA site"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     polyA_site      2933
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     regulatory      4142..4147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AATAAA"
     regulatory      4151..4156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
                     /note="hexamer: AACAAA"
     polyA_site      4165
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
     polyA_site      4169
                     /gene="PEX2"
                     /gene_synonym="PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3;
                     RNF72; ZWS3"
ORIGIN      
        1 aatccagatt cggctaggaa aagacaagct ttccagagaa tgtttcagag aaagttacgt
       61 ggagcgtggg cgtttcgcag actcctaagt ggtctggaac ctaacctgca gtgtctctga
      121 gcttctggca agtatgaggc aaggatttca cagaagaact tggagcaaaa attcccactg
      181 tcatagctat aggctgtcca gtcttgaggg agctgcagga acaggaaaaa gagaccttca
      241 gagaagacat ggcttccaga aaagagaatg cgaagagtgc aaacagagtg ctaagaataa
      301 gccagttgga tgcacttgaa ctaaacaagg ccctggagca gctagtttgg tcccagttta
      361 ctcagtgctt tcatggattt aaacctgggc tgttagctcg ctttgagcca gaggtgaaag
      421 cgtgcttatg ggttttcttg tggagattca ccatctactc caaaaatgcc acagtgggac
      481 agtcagtttt gaatattaag tacaaaaatg atttttcccc taacctgaga tatcagccac
      541 ccagtaaaaa tcaaaaaatc tggtatgctg tttgtacaat tggtggcagg tggttagaag
      601 aacgatgcta tgatttgttt cgaaaccatc atttagcatc atttgggaaa gtcaagcagt
      661 gtgtgaattt tgtgattgga cttttgaaat taggtgggct gattaatttt ttgattttcc
      721 ttcagagggg aaagtttgca actttgacag aacgtctcct aggtattcat tctgtatttt
      781 gcaagcctca aaacatatgt gaagttggct ttgaatacat gaatagggaa cttctctggc
      841 atggttttgc tgaatttctg atttttctct taccacttat caatgtccag aagttgaaag
      901 ccaagctgtc ttcatggtgt attcctctta ctggtgcacc taatagtgac aatacattag
      961 ccaccagtgg caaagaatgc gctctatgtg gagagtggcc caccatgcct cacaccatag
     1021 gatgtgagca tattttctgt tatttctgtg ctaagagtag tttcttattt gacgtgtact
     1081 ttacttgtcc taagtgtggc acagaagtac acagtctgca gccactgaaa tcaggaatcg
     1141 agatgtcaga agtaaatgct ctttagaaac taaaattgct tcctttgagg aaaaaaatgc
     1201 accgtgttta aattcttaat attagtcatc ctaagtatac catttatgta tcctttataa
     1261 ggaatgtgct cctagccact gtcttctcct ttccaggcat gactgaaatc taatcactgg
     1321 aaaccatgtg attctaaata tattatgtaa atgttaatgt attatgtttt ttaaatcatt
     1381 gcattcaatt tttaatgtca agaataatgg acagcttttg tcaggtgact actaacaatg
     1441 ctccttcatt ttactacttc ttaaaacaag gttggattct aaagataaag attttggaga
     1501 ctctgggatg agtgtgcatt tattttcaga gttgacataa tatgataatg tgacaattat
     1561 gagactgttt taaaccttaa gacctgatgc ctcagttgta actttttttt ttttttctga
     1621 gacggtgtcc tgctctgtca cccaggctgg agtgcagtgg cgcgatctct gctcactgca
     1681 acgtccgcct cccgggttca agcaattctc ctgcctcagc ctcccgagta gctggcactg
     1741 caggtgcatg ccaccatgcc cgggtaattt ttgtattttt agtagagatg gggttcactg
     1801 tgttagccag gatggtctct atctcctgat ctggtgatcc acctgcgtca gcctcccaaa
     1861 gtgctgagat tacagacgtg agccactgtg cttggccgcc tcagttgtaa tgttatgctt
     1921 ttctctgaag ccaattttta agaagttcag tcctcagctg tctgacccct ccacagttgg
     1981 ctttatattc agaaagtaaa aattacttaa ggcagcttgg aagtgaggcc tgggaactac
     2041 tgggggcaac tagtatgaac agcactattt acaggtctct ttctcttgcc tttgattcag
     2101 agctgtcatt ctcagtaaat attgatagtt ttattgaaac aaaaggggtc tttagcatgg
     2161 gaatagtaac agcagtgcat aatcaagata attctgtatc cttcactctt tttctctgcc
     2221 tttttttact taaaagtaaa ttcagactct taaaatggta tagaattatt agcttgaaca
     2281 ttgaattatc tcgtcttaac tagaatgttt tttaaaaaac agtttttaaa tgtttttaaa
     2341 taaacatctt gctagtatga tggaaataca ctgccagttc atttttctct tcacctttca
     2401 ttgaacaagt actcaggtgc caggtactga tgtagccatt agaggcacaa cagtatatta
     2461 agcaggaaaa atcaagttac cttcatggag tttacattct gtgattgaat gaactgtaag
     2521 tttaatttag gttcaattta gtgtaagata ctgaagaagt tttgtagttt gagttaagag
     2581 tattttacat cttaagaatt tgccttcttt tgccttctgt aattttaaaa cattattgta
     2641 gaaaacacca acaattcagg aaaaaatata aaatcaactt tcccacaatt ttttgagaga
     2701 gatcatcact atattttact atatttgtag atttgttgca cgtacatttc ttatttacaa
     2761 aattattata atgcataaaa aatagcattt tttcctatgt ataaatattc ttcaaaacta
     2821 ttttagggct gagcacaatg gctcatgcct gtaatcccag gctccctact tagggaggct
     2881 gagcccagga gtttgagttc gtttctaaaa aaataaaaat atatacaaac gtctttgttt
     2941 tttgtttgtt tgtttgtttt tggtgagaaa gggcctcacc cagtcaccca ggttggagtg
     3001 cagtggtgtg atcatggcta accgcagcct ttccctccca gggctcaagc gatcctccca
     3061 tctgagcctc ccaagttgct gggaccacag gcccatacca ccatgcctgg ctaatttttg
     3121 tagagatgag gtctcacttt gttgcccagg ctggtcttga acttctgggc tcaagcagtc
     3181 ctcctaccct ggcctcccaa agttgtggga ttacaggcat gagccactgc acccagccat
     3241 aatatatttt taaaatgcta tgtatatgcc atcatattcc tattcctatt attatttaac
     3301 caccatcata gagcatttag gttcttttca ctttctgttg tgaataatgc aatgttgaat
     3361 ctgagttcat taagtgaaga gtccagctgc acactgcagg cccagtctgg atgtaggtgc
     3421 tcagatggtt ctctttgaga caggctttat cctttggctc tcattttttt gatgagtgta
     3481 catggcatga gggacacaga ttccgctaga attcaaatcc cacttgtgta taacctaggg
     3541 caatgtgcca catctctgca catctgttca ttgtaaggat tacatgttta gtgtatataa
     3601 agctcttaaa acaatgcctg acacatagta aatagaatat aatagtagtg ctttcctttg
     3661 ctgttgtcag tattactctg agtcggtttc attctcacac agaatgatgg ccgctagaag
     3721 ctcaaggctt ataatctgct agctttctga tcccactggc atgagatact cttgcctaat
     3781 agttacagct aaagtccagg agctcactgt tactggtctg ccttggatta tgtgcacatt
     3841 cctgaaccag ccactatagc taggggatgg aaaatactgt tcctggttac ttaaatgtag
     3901 gtgatgctcc tcccatatac cacatgaacc taaaggagtc ctggaggagg ccgttcacca
     3961 caggaaactg aggtgttctt agaagggtgg atgctggcag atctctacta gttagagtct
     4021 acatttgcct tactcatttc aaaagtccac attgcagtct cattttacca gtgatctagc
     4081 ttgataagga cattcataag taactggatg attctttaac attgcagatt tgaaaggatt
     4141 aaataaagtc aacaaaattg ttatatcaa
//
