LOCUS       NM_000286               2617 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.
ACCESSION   NM_000286
VERSION     NM_000286.3
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 2617)
  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 2617)
  AUTHORS   Zaki,M.S., Issa,M.Y., Thomas,M.M., Elbendary,H.M., Rafat,K., Al
            Menabawy,N.M., Selim,L.A., Ismail,S., Abdel-Salam,G.M. and
            Gleeson,J.G.
  TITLE     A founder mutation in PEX12 among Egyptian patients in peroxisomal
            biogenesis disorder
  JOURNAL   Neurol Sci 42 (7), 2737-2745 (2021)
   PUBMED   33123925
  REMARK    GeneRIF: A founder mutation in PEX12 among Egyptian patients in
            peroxisomal biogenesis disorder.
REFERENCE   3  (bases 1 to 2617)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2617)
  AUTHORS   Zhang,J., Tripathi,D.N., Jing,J., Alexander,A., Kim,J.,
            Powell,R.T., Dere,R., Tait-Mulder,J., Lee,J.H., Paull,T.T.,
            Pandita,R.K., Charaka,V.K., Pandita,T.K., Kastan,M.B. and
            Walker,C.L.
  TITLE     ATM functions at the peroxisome to induce pexophagy in response to
            ROS
  JOURNAL   Nat Cell Biol 17 (10), 1259-1269 (2015)
   PUBMED   26344566
REFERENCE   5  (bases 1 to 2617)
  AUTHORS   Schrader,M., Reuber,B.E., Morrell,J.C., Jimenez-Sanchez,G.,
            Obie,C., Stroh,T.A., Valle,D., Schroer,T.A. and Gould,S.J.
  TITLE     Expression of PEX11beta mediates peroxisome proliferation in the
            absence of extracellular stimuli
  JOURNAL   J Biol Chem 273 (45), 29607-29614 (1998)
   PUBMED   9792670
REFERENCE   6  (bases 1 to 2617)
  AUTHORS   Okumoto,K., Shimozawa,N., Kawai,A., Tamura,S., Tsukamoto,T.,
            Osumi,T., Moser,H., Wanders,R.J., Suzuki,Y., Kondo,N. and Fujiki,Y.
  TITLE     PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA
            cloning by functional complementation on a CHO cell mutant, patient
            analysis, and characterization of PEX12p
  JOURNAL   Mol Cell Biol 18 (7), 4324-4336 (1998)
   PUBMED   9632816
REFERENCE   7  (bases 1 to 2617)
  AUTHORS   Okumoto,K. and Fujiki,Y.
  TITLE     PEX12 encodes an integral membrane protein of peroxisomes
  JOURNAL   Nat Genet 17 (3), 265-266 (1997)
   PUBMED   9354782
REFERENCE   8  (bases 1 to 2617)
  AUTHORS   Chang,C.C., Lee,W.H., Moser,H., Valle,D. and Gould,S.J.
  TITLE     Isolation of the human PEX12 gene, mutated in group 3 of the
            peroxisome biogenesis disorders
  JOURNAL   Nat Genet 15 (4), 385-388 (1997)
   PUBMED   9090384
REFERENCE   9  (bases 1 to 2617)
  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 2617)
  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 DA298874.1, U91521.1,
            BC031085.1 and AI341587.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000286.2.
            
            Summary: This gene belongs to the peroxin-12 family. 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 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 :: SRR3476690.856607.1,
                                           SRR1660805.145609.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225873.9/ ENSP00000225873.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA298874.1         74-89
            17-122              U91521.1           14-119
            123-958             BC031085.1         93-928
            959-2319            U91521.1           956-2316
            2320-2465           BC031085.1         2290-2435
            2466-2617           AI341587.1         11-162              c
FEATURES             Location/Qualifiers
     source          1..2617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2617
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="peroxisomal biogenesis factor 12"
                     /db_xref="GeneID:5193"
                     /db_xref="HGNC:HGNC:8854"
                     /db_xref="MIM:601758"
     exon            1..676
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             551..1630
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="peroxin 12; peroxisome assembly factor 3"
                     /codon_start=1
                     /product="peroxisome assembly protein 12"
                     /protein_id="NP_000277.1"
                     /db_xref="CCDS:CCDS11296.1"
                     /db_xref="GeneID:5193"
                     /db_xref="HGNC:HGNC:8854"
                     /db_xref="MIM:601758"
                     /translation="MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVL
                     AESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQR
                     LASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFL
                     AAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKA
                     SMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSL
                     TALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVR
                     SHQACPITGYPTEVQHLIKLYSPEN"
     exon            677..1230
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..2617
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2596..2601
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="hexamer: AATAAA"
     polyA_site      2617
                     /gene="PEX12"
                     /gene_synonym="PAF-3; PBD3A"
                     /note="major polyA site"
ORIGIN      
        1 gtcataaagc ggagacctcc cttcaaacgt ggcgtcgtgg gttgtttgcg cctcgcctgg
       61 ggtcagcgag caaggacggg cgcgggcggg gatactcaaa gccaacagct ggagtcagcc
      121 cttgtgtccc gggctcacag tggcacgact gaatcctcag agtcggctgg cttttgagct
      181 ctcacgattg gggaggaggg ggcgtttctg gttcgcagct ccagaggatt gcgttccttc
      241 ccccatacct gtcccccaca gtcacgctct gccctgacgt gcagcatttg acaagttacc
      301 ccctcgccac atactacttc cacccacgtc cgagttaact ttgttcttaa ccttcttgag
      361 actaccctcg gcctccaggt ctttttttcc cagttcattt ttgcccataa gattgagttt
      421 cgagtttcag atatcatgca gaaagtttac ctttaagact gagcacccat ctgatactct
      481 tcctcccgaa aaagttcatg ctcacgagag agtttgtggg aaaagtgaaa gccagtacac
      541 gcaggaaact atggctgagc acggggctca cttcacagct gcttctgtgg ccgatgacca
      601 gccatccatc tttgaggtgg tagcacagga cagtttaatg acagcagtga gacccgctct
      661 tcagcatgtg gtcaaggttc ttgcagaatc aaatcccacc cactatggct tcttgtggag
      721 gtggtttgat gaaatcttta ctctgctaga tcttctgctc cagcaacatt atctgtctag
      781 aaccagtgcc tcattttctg aaaactttta cggcttaaag agaattgtaa tgggggacac
      841 tcacaagtct cagagattgg ctagtgctgg tctcccaaag cagcagcttt ggaaatctat
      901 tatgttcctg gttcttcttc cctatctgaa agtgaagctg gagaagctgg tttctagcct
      961 gagagaagag gatgaatatt ctattcatcc cccttcttcc cgctggaaac gattttacag
     1021 agctttcctg gcagcctacc catttgtgaa catggcctgg gaaggatggt ttcttgtaca
     1081 acaacttcga tacatcctag gaaaagctca gcatcactca ccactgctga ggctggctgg
     1141 agttcagcta ggtcgactga cagttcagga tatacaagct ctggagcaca aaccagctaa
     1201 ggccagcatg atgcagcaac cagccaggag tgttagtgag aagataaact cagctctgaa
     1261 gaaagctgtt gggggtgttg ccttatccct gtctactggc ctttctgtgg gtgtattctt
     1321 cttgcagttc cttgactggt ggtactcatc tgaaaatcaa gaaaccatca agtcattgac
     1381 tgccctgcct actccaccac cacctgtaca cctagactat aactctgatt ctcccctctt
     1441 acccaaaatg aagactgtgt gcccactgtg tcgtaaaacc cgggtgaatg atactgttct
     1501 tgccacctct ggctatgtgt tttgttaccg ctgtgtgttt cattatgtga ggagtcacca
     1561 agcttgtccc atcacaggtt atccaacaga agtacaacat ctgattaaac tctactcccc
     1621 tgagaactga aagggaatca tgtcttatcc tcacaacaaa agtattgcgc tgtaatgtca
     1681 cagagctggt ttcagcatgg tattgagttg acacttctca gcctcaattc ataactatat
     1741 gaactttaaa tgattatatg gatttcttta aaaggatatg cccatttgat cctaaccttt
     1801 tagcctgctc tctagaaccc tacttacagt tgaccaagct gcttaaagta gaaggatcag
     1861 gactggcagg ggatatgagg gccagtgtag agattaaaca gaataatgag tacacaagtt
     1921 tttgcctatc cctttcctta aaatataaga aataaaggag ctcttacgaa aaacccaggt
     1981 tagaccgcat aaaaaataaa gtgaacagtg aggtggtagc aagacttctt tttagaaaag
     2041 aaagcattta cctgcctgtc tgtaaggtgg aaatttcatc agtttgcaaa cgataagaaa
     2101 tgcagacttg ctcttgatag aaatgcttag aaacactctg ggggggaaaa aagctccttc
     2161 catatactgt gagacatttg ttaagtgaca tctattgttt atcagctttt aaggataaaa
     2221 aaggtatttt aaaagttgga tatttaggat atttgaggat attcctttat gagctctcca
     2281 tatccttctt gagaaactgg ttaaaaaagg aataggggtt gagtgttaca gagagtagtc
     2341 tgaagattcc tgtgtaaaag caaagctaac aagcaatgaa gacatgaagc aaaatactaa
     2401 tctaattgtg taaagaaagg atattttaat aagttctttc tgcttgctgc taagagtttg
     2461 ctaaagtgtc atgaattatt ctggttatta ctaaagtttc tatgaaacac ttaagtagat
     2521 tttaagaata aatgtttctg gaaaagaact atgttatgat tttgtagaaa tgtaaagatt
     2581 acttgaggtg tttaaaataa atttttcatt cagacta
//
