LOCUS       NM_002618               4472 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.
ACCESSION   NM_002618
VERSION     NM_002618.4
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 4472)
  AUTHORS   Gaussmann,S., Peschel,R., Ott,J., Zak,K.M., Sastre,J.,
            Delhommel,F., Popowicz,G.M., Boekhoven,J., Schliebs,W., Erdmann,R.
            and Sattler,M.
  TITLE     Modulation of peroxisomal import by the PEX13 SH3 domain and a
            proximal FxxxF binding motif
  JOURNAL   Nat Commun 15 (1), 3317 (2024)
   PUBMED   38632234
  REMARK    GeneRIF: Modulation of peroxisomal import by the PEX13 SH3 domain
            and a proximal FxxxF binding motif.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4472)
  AUTHORS   Borgia,P., Baldassari,S., Pedemonte,N., Alkhunaizi,E.,
            D'Onofrio,G., Tortora,D., Cali,E., Scudieri,P., Balagura,G.,
            Musante,I., Diana,M.C., Pedemonte,M., Vari,M.S., Iacomino,M.,
            Riva,A., Chimenz,R., Mangano,G.D., Mohammadi,M.H., Toosi,M.B.,
            Ashrafzadeh,F., Imannezhad,S., Karimiani,E.G., Accogli,A.,
            Schiaffino,M.C., Maghnie,M., Soler,M.A., Echiverri,K., Abrams,C.K.,
            Striano,P., Fortuna,S., Maroofian,R., Houlden,H., Zara,F.,
            Fiorillo,C. and Salpietro,V.
  TITLE     Genotype-phenotype correlations and disease mechanisms in
            PEX13-related Zellweger spectrum disorders
  JOURNAL   Orphanet J Rare Dis 17 (1), 286 (2022)
   PUBMED   35854306
  REMARK    GeneRIF: Genotype-phenotype correlations and disease mechanisms in
            PEX13-related Zellweger spectrum disorders.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4472)
  AUTHORS   Rishi,G., Bhatia,M., Secondes,E.S., Melino,M., Crane,D.I. and
            Subramaniam,V.N.
  TITLE     Hepatocyte-specific deletion of peroxisomal protein PEX13 results
            in disrupted iron homeostasis
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1866 (10), 165882 (2020)
   PUBMED   32565019
  REMARK    GeneRIF: Hepatocyte-specific deletion of peroxisomal protein PEX13
            results in disrupted iron homeostasis.
REFERENCE   4  (bases 1 to 4472)
  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   5  (bases 1 to 4472)
  AUTHORS   Bjorkman,J., Stetten,G., Moore,C.S., Gould,S.J. and Crane,D.I.
  TITLE     Genomic structure of PEX13, a candidate peroxisome biogenesis
            disorder gene
  JOURNAL   Genomics 54 (3), 521-528 (1998)
   PUBMED   9878256
REFERENCE   6  (bases 1 to 4472)
  AUTHORS   Fransen,M., Terlecky,S.R. and Subramani,S.
  TITLE     Identification of a human PTS1 receptor docking protein directly
            required for peroxisomal protein import
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8087-8092 (1998)
   PUBMED   9653144
REFERENCE   7  (bases 1 to 4472)
  AUTHORS   Albertini,M., Rehling,P., Erdmann,R., Girzalsky,W., Kiel,J.A.,
            Veenhuis,M. and Kunau,W.H.
  TITLE     Pex14p, a peroxisomal membrane protein binding both receptors of
            the two PTS-dependent import pathways
  JOURNAL   Cell 89 (1), 83-92 (1997)
   PUBMED   9094717
REFERENCE   8  (bases 1 to 4472)
  AUTHORS   Gould,S.J., Kalish,J.E., Morrell,J.C., Bjorkman,J., Urquhart,A.J.
            and Crane,D.I.
  TITLE     Pex13p is an SH3 protein of the peroxisome membrane and a docking
            factor for the predominantly cytoplasmic PTs1 receptor
  JOURNAL   J Cell Biol 135 (1), 85-95 (1996)
   PUBMED   8858165
REFERENCE   9  (bases 1 to 4472)
  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 4472)
  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 DB102467.1, AB022192.1,
            AC010733.8 and CN288682.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002618.3.
            
            Summary: This gene encodes a peroxisomal membrane protein that
            binds the type 1 peroxisomal targeting signal receptor via a SH3
            domain located in the cytoplasm. Mutations and deficiencies in
            peroxisomal protein importing and peroxisome assembly lead to
            peroxisomal biogenesis disorders, an example of which is Zellweger
            syndrome. [provided by RefSeq, Oct 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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 :: SRR1803612.353160.1,
                                           SRR1660805.7239.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295030.6/ ENSP00000295030.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB102467.1         44-45
            3-1405              AB022192.1         1-1403
            1406-4217           AC010733.8         202379-205190
            4218-4472           CN288682.1         1-255
FEATURES             Location/Qualifiers
     source          1..4472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..4472
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="peroxisomal biogenesis factor 13"
                     /db_xref="GeneID:5194"
                     /db_xref="HGNC:HGNC:8855"
                     /db_xref="MIM:601789"
     exon            1..132
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1252
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="peroxisomal membrane protein PEX13; peroxin-13"
                     /codon_start=1
                     /product="peroxisome biogenesis factor 13"
                     /protein_id="NP_002609.1"
                     /db_xref="CCDS:CCDS1866.1"
                     /db_xref="GeneID:5194"
                     /db_xref="HGNC:HGNC:8855"
                     /db_xref="MIM:601789"
                     /translation="MASQPPPPPKPWETRRIPGAGPGPGPGPTFQSADLGPTLMTRPG
                     QPALTRVPPPILPRPSQQTGSSSVNTFRPAYSSFSSGYGAYGNSFYGGYSPYSYGYNG
                     LGYNRLRVDDLPPSRFVQQAEESSRGAFQSIESIVHAFASVSMMMDATFSAVYNSFRA
                     VLDVANHFSRLKIHFTKVFSAFALVRTIRYLYRRLQRMLGLRRGSENEDLWAESEGTV
                     ACLGAEDRAATSAKSWPIFLFFAVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVV
                     ARAEYDFAAVSEEEISFRAGDMLNLALKEQQPKVRGWLLASLDGQTTGLIPANYVKIL
                     GKRKGRKTVESSKVSKQQQSFTNPTLTKGATVADSLDEQEAAFESVFVETNKVPVAPD
                     SIGKDGEKQDL"
     exon            133..827
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /inference="alignment:Splign:2.1.0"
     exon            828..953
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /inference="alignment:Splign:2.1.0"
     exon            954..4472
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1716..1721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="hexamer: AATAAA"
     polyA_site      1739
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="major polyA site"
     regulatory      4186..4191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="hexamer: AATATA"
     polyA_site      4208
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="major polyA site"
     regulatory      4327..4332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="hexamer: ATTACA"
     polyA_site      4348
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
     regulatory      4451..4456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
                     /note="hexamer: AATAAA"
     polyA_site      4472
                     /gene="PEX13"
                     /gene_synonym="NALD; PBD11A; PBD11B; ZWS"
ORIGIN      
        1 agtcaggggt aggagcggga gccgagagga ggcggaggag atggcgtccc agccgccacc
       61 tccccccaaa ccctgggaga cccgccgaat tccgggagcc ggaccgggac caggaccggg
      121 ccccactttc caatctgctg atttgggtcc tactttaatg acaagacctg gacaaccagc
      181 acttaccaga gtgcccccac ctattcttcc aaggccatca cagcagacag gaagtagcag
      241 tgtgaacact tttagacctg cttacagttc attttcttct ggatatggtg cctatggaaa
      301 ttcattttat ggaggctata gtccttatag ttatggatat aatgggctgg gctacaaccg
      361 cctccgtgta gatgatcttc cacccagtag atttgttcag caagctgaag aaagcagcag
      421 gggtgcattt cagtccattg aaagtattgt gcatgcattt gcctctgtca gtatgatgat
      481 ggatgctacc ttttcagctg tctataacag tttcagggct gtattggatg tagcaaatca
      541 cttttcccga ttgaaaatac actttacaaa agtgttttca gcttttgcat tggttaggac
      601 tatacggtat ctttacagac ggctacagcg gatgttaggt ttaagaagag gctctgagaa
      661 tgaagacctc tgggcagaga gtgaaggaac tgtggcatgc cttggtgctg aggaccgagc
      721 agctacctca gcaaaatctt ggccaatatt cttgttcttt gctgttatcc ttggtggtcc
      781 ttacctcatt tggaaactat tgtctactca cagtgatgaa gtaacagaca gcatcaactg
      841 ggcaagtggt gaggatgacc atgtagttgc cagagcagaa tatgattttg ctgccgtatc
      901 tgaagaagaa atttctttcc gggctggtga tatgctgaac ttagctctca aagaacaaca
      961 acccaaagtg cgtggttggc ttctggctag ccttgatggc caaacaacag gacttatacc
     1021 tgcgaattat gtcaaaattc ttggcaaaag aaaaggtagg aaaacggtgg aatcaagtaa
     1081 agtttccaag cagcaacaat cttttaccaa cccaacacta actaaaggag ccacggttgc
     1141 tgattctttg gatgaacagg aagctgcctt tgaatctgtt tttgttgaaa ctaataaggt
     1201 tccagttgca cctgattcca ttgggaaaga tggagaaaag caagatcttt gatatctttc
     1261 atgtttgcct gcagttgaac aatactttag agtacttttt aaaattattt ctcacaaaga
     1321 aatgaatgta caatccaatg aaaacatttg ttattggcta tttcaggtgt tttgctgcta
     1381 gaaattatta aagttacaca ctagtatgtt ggtctggtga cctggttaca ttttattata
     1441 cacattattg gaccataagg acatttgttt cacctagatt ttaagattat ggagactgct
     1501 gtcattttta tcttatttaa atctctaggt ttattggaag agtaagattg atgaactata
     1561 gcatgcacag tttggtacag tagagatcat taatactttt aaaagttctg cattaattga
     1621 cttggaatcc ttagaaatgg agtggtgaca tgtcagtatg agaacaggca aaaggtaaat
     1681 tttttttttt ttttacaacc ttaagtaatc tcaataataa aattttctga tctgtattat
     1741 atccagtgtt gggtttatat tttcacccac aaacaactga cactgctatc ttttactgta
     1801 tttttaaaaa tttaatttga aaaggtcacc cagaagcatt ctgaaggaaa tggttctaga
     1861 attatagagt atgtagccct aatagttttc cctcctagca aaaagtctga aatttatctt
     1921 tcttacaaac tgttccattt cttctaagga tcccttaatt atttatctct ttaagccagg
     1981 catggtggct cacgcctgta atcccagcac tttgggaggc tgaggcgggc agatcacctg
     2041 aggttgggag ttcaagacca ccctgaccaa catggagaaa ccccatcttt acgaaaaata
     2101 caaaattagc taggtgtggt ggcacatgcc tgtaatccca gctactcggg aggctgaggc
     2161 aggagaattg cttgaacccc aggaggcgga ggttacgctg agccggagat ctcgccattg
     2221 cacttcagcc tgggcaacaa aagcgaaact ccatctcaaa aaataaaatt atttatttct
     2281 ttaaaatatg actagttttc atactgggtg aatcagaagt atatgaaagg tatactttct
     2341 tttcctacaa caaatacttg agttcttttg agtttgcact taatgatata atcagttata
     2401 atagtaattt ttaatatttt catagattgt ttgcttctac cttgtgtaat tttttaaatt
     2461 ccatatttag gatgctctgt aaatattgaa aatgtgtcac attggataca tttttctttt
     2521 aggtttagtt tttactactg agacttattt atagtcttag tgctctattg ccatttagaa
     2581 tatgataatc ctcatgcctt taatctcagc actttgggag gccaaggcgg gcggatcacc
     2641 tgcggtcagg agtttgagac cagcctggcc aacacggtga aaccctgtct ctactaaaaa
     2701 tacgaaaatt agctgggtgc agtggcgtgc acctgtagtc ccagctactc aggaggctga
     2761 ggcaggagaa tcacttgaac ccgggaggca gaggttgcag ggagctgaga tcatgccact
     2821 gcactccagc ctaggggaca gagcaagact ctgtctcaaa acaaacaaac aaaaaataat
     2881 aatacgataa tgctatttga cgtgtttttt ggtttataat gattttaaat gcagttaact
     2941 ttcagtacac tgaatatttc cccagaaaat tggaaacttc atatacttgg ctacgaacat
     3001 actacagagt aatactatca ggaatacagg tgtataagaa tacatttata gatattgttg
     3061 aaaactttga actgtttgat aaaaattgtg atttagtatt ttttcttttg tctttttttg
     3121 aaacggagtc tcactctgtc gcccaggctg gagtccagtg gcgcgatctc ggctcactgc
     3181 aagctccgcc tcccgggttc acgccattct cctgcctcag cctcccgagt agctgggact
     3241 acaggcgcct gccaccaggc ccggctaatt ttttttgtat ttttagtaga gacggggttt
     3301 caccgtgtta cccaggatgg tctccatctc ctgacctcgt gatgagcccg cttcggtctc
     3361 ccaaagtgtt gggattacag gcgtgagcca ccgcacccag cgatttagta tttttttcta
     3421 atagactatg ttcaacaaat aagtaattct cgaatagttc agattaaaac atacaggaac
     3481 caagtacata cccagcatag aagaacttta ctaaaggctt cttggaaagc ccttttttga
     3541 aacgacagta tcgtaagtaa catatcattt ataatagaaa tcttgaccca gtgcagaaaa
     3601 ataaatatag taaaatttat ttatctttgg ccagttttcc aacacccagg tattagcctt
     3661 gaagttgaag agataaggtt tcttgtatat tatttttcat ttgtgttcta caattaaagg
     3721 ttctgctttg atttgtcaga taatttatag aaattttgtt ctcaaaacaa atgtttgata
     3781 aaacagatta ttaaatttgg ggttgagatg tctaaattga atgctagaag taaagtagaa
     3841 gtgaccacta ttaaagatgt atagggagaa gagtacagca caaagtgata aaatagtgac
     3901 acttttgtag gggtgtttat tgtttggtta agtctgctaa attacggtat gcattatctg
     3961 gtgactattt gtgcctgaaa attcgttttg tattaaaatt ctggagaagg aattcaggac
     4021 tagaataaag agaaattttg taaccttttt tatcatgaca gttttagaat aattttttta
     4081 gctgagatta aatgttcaag gctccaatat tatttttagg aacttattta aggagtgcta
     4141 ctttacagaa attactaaca caccaaaaca ttattaatta aataaaatat aagtttacaa
     4201 taataaaaca tgtttctttt aatttttctg attatatttt atgagttcag aaaggaaatg
     4261 gtaaaagaac tatacatttt catgttttaa cattttatgt acgtacttga ttctgtctgt
     4321 gtcataatta cacatttact tgaacacagc tatcctttat cttgtgcttt ctttaataga
     4381 aaaatgaaca gaaactgaat gcagttaaat ttttattttt agtaggttgt gaagttactt
     4441 ttactggaga aataaaaata tgttaaactt ga
//
