LOCUS       NM_004565               1922 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.
ACCESSION   NM_004565
VERSION     NM_004565.3
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 1922)
  AUTHORS   Jansen,R.L.M., de Boer,R., de Lange,E.M.F., Koster,J., Vlijm,R.,
            Waterham,H.R. and van der Klei,I.J.
  TITLE     Overexpression of PEX14 results in mistargeting to mitochondria,
            accompanied by organelle fragmentation and clustering in human
            embryonic kidney cells
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (6), 119754 (2024)
   PUBMED   38762172
  REMARK    GeneRIF: Overexpression of PEX14 results in mistargeting to
            mitochondria, accompanied by organelle fragmentation and clustering
            in human embryonic kidney cells.
REFERENCE   2  (bases 1 to 1922)
  AUTHORS   Waterham,H.R., Koster,J., Ebberink,M.S., Jesina,P., Zeman,J.,
            Noskova,L., Kmoch,S., Devic,P., Cheillan,D., Wanders,R.J.A. and
            Ferdinandusse,S.
  TITLE     Autosomal dominant Zellweger spectrum disorder caused by de novo
            variants in PEX14 gene
  JOURNAL   Genet Med 25 (11), 100944 (2023)
   PUBMED   37493040
  REMARK    GeneRIF: Autosomal dominant Zellweger spectrum disorder caused by
            de novo variants in PEX14 gene.
REFERENCE   3  (bases 1 to 1922)
  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   4  (bases 1 to 1922)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   5  (bases 1 to 1922)
  AUTHORS   Chang,C.C., Warren,D.S., Sacksteder,K.A. and Gould,S.J.
  TITLE     PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor
            docking in peroxisomal matrix protein import
  JOURNAL   J Cell Biol 147 (4), 761-774 (1999)
   PUBMED   10562279
REFERENCE   6  (bases 1 to 1922)
  AUTHORS   Shimizu,N., Itoh,R., Hirono,Y., Otera,H., Ghaedi,K., Tateishi,K.,
            Tamura,S., Okumoto,K., Harano,T., Mukai,S. and Fujiki,Y.
  TITLE     The peroxin Pex14p. cDNA cloning by functional complementation on a
            Chinese hamster ovary cell mutant, characterization, and functional
            analysis
  JOURNAL   J Biol Chem 274 (18), 12593-12604 (1999)
   PUBMED   10212238
REFERENCE   7  (bases 1 to 1922)
  AUTHORS   Will,G.K., Soukupova,M., Hong,X., Erdmann,K.S., Kiel,J.A., Dodt,G.,
            Kunau,W.H. and Erdmann,R.
  TITLE     Identification and characterization of the human orthologue of
            yeast Pex14p
  JOURNAL   Mol Cell Biol 19 (3), 2265-2277 (1999)
   PUBMED   10022913
REFERENCE   8  (bases 1 to 1922)
  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   9  (bases 1 to 1922)
  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 1922)
  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 DA494578.1 and BC006327.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004565.2.
            
            Summary: This gene encodes an essential component of the
            peroxisomal import machinery. The protein is integrated into
            peroxisome membranes with its C-terminus exposed to the cytosol,
            and interacts with the cytosolic receptor for proteins containing a
            PTS1 peroxisomal targeting signal. The protein also functions as a
            transcriptional corepressor and interacts with a histone
            deacetylase. A mutation in this gene results in one form of
            Zellweger syndrome. [provided by RefSeq, Jul 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 :: SRR3476690.1139610.1,
                                           SRR3476690.1121709.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356607.9/ ENSP00000349016.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA494578.1         5-9
            6-1922              BC006327.2         1-1917
FEATURES             Location/Qualifiers
     source          1..1922
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..1922
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /note="peroxisomal biogenesis factor 14"
                     /db_xref="GeneID:5195"
                     /db_xref="HGNC:HGNC:8856"
                     /db_xref="MIM:601791"
     exon            1..53
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1151
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /note="NF-E2 associated polypeptide 2; peroxisomal
                     membrane anchor protein Pex14p; peroxin-14; PTS1 receptor
                     docking protein; peroxisomal membrane anchor protein
                     PEX14"
                     /codon_start=1
                     /product="peroxisomal membrane protein PEX14"
                     /protein_id="NP_004556.1"
                     /db_xref="CCDS:CCDS30582.1"
                     /db_xref="GeneID:5195"
                     /db_xref="HGNC:HGNC:8856"
                     /db_xref="MIM:601791"
                     /translation="MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQS
                     PLATRRAFLKKKGLTDEEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPA
                     GSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVA
                     QTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINS
                     LKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSP
                     GKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDV
                     SHVDEEDCLGVQREDRRGGDGQINEQVEKLRRPEGASNESERD"
     exon            54..101
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            102..186
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            187..315
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            316..401
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            402..504
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            505..602
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            603..694
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     exon            695..1922
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1897..1902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /note="hexamer: AATAAA"
     polyA_site      1922
                     /gene="PEX14"
                     /gene_synonym="dJ734G22.2; NAPP2; PBD13A; Pex14p"
                     /note="major polyA site"
ORIGIN      
        1 agtcaggcct cagaaagatg gcgtcctcgg agcaggcaga gcagccgagc cagccaagct
       61 ctactccagg aagtgaaaat gtgctgcctc gagagccgct gattgccacg gcagtgaagt
      121 ttctacagaa ttcccgggtc cgccagagcc cacttgcaac caggagagca ttcctaaaga
      181 agaaagggct gacagatgaa gagattgata tggccttcca gcagtcgggc actgctgccg
      241 atgagccttc gtccttgggc ccagccacac aggtggttcc tgtccagccc cctcacctca
      301 tatctcagcc atacagtccc gcaggctccc gatggcgaga ttacggcgcc ctggccatca
      361 tcatggcagg cattgcattt ggctttcacc agctctacaa gaaatacctg ctccccctca
      421 tcctgggcgg ccgagaggac agaaagcagc tggagaggat ggaggccggt ctctctgagc
      481 tgagtggcag cgtggcccag acagtgactc agttacagac gaccctcgcc tccgtccagg
      541 agctgctgat tcagcagcag cagaagatcc aggagcttgc ccacgagctg gccgctgcca
      601 aggccaccac atccaccaac tggatcctgg agtcccagaa tatcaacgaa ctcaagtccg
      661 aaattaactc cttgaaaggg cttcttttaa atcggaggca gttccctcca tccccatcag
      721 ccccgaagat cccctcctgg cagatcccag tcaagtcacc gtcaccctcc agccctgcgg
      781 ccgtgaacca ccacagcagc agcgacatct cacctgtcag caacgagtcc acgtcgtcct
      841 cgcctgggaa ggagggccac agccccgagg gctccacggt cacctaccac ttgctgggcc
      901 cccaggagga aggcgagggg gtggtggacg tcaagggcca ggtgcggatg gaggtgcaag
      961 gcgaggagga gaagagggag gacaaggagg acgaggagga tgaggaggat gatgatgtga
     1021 gccatgtgga cgaggaggac tgcctggggg tgcagaggga ggaccgccgg ggcggggatg
     1081 ggcagatcaa cgagcaggtg gagaagctgc ggcggcccga gggcgccagc aacgagagtg
     1141 agcgggacta gggctgcgcc tgctgcctcc agccctgagg atggcatcta gtgtgcccgt
     1201 gcgtggccat accctgcctc cctctctggc cctgggaggg cagcttggag cccaggtagg
     1261 gggcagagct gtcctcagct gcactgcggc ctggtggcag tgtggggagt cacacttctg
     1321 tccacctggc ctcctctcgc ctggccgcca gccccagccc cagccccagc cccaggccca
     1381 gctgcctttg gctttgatct caagtcaggc tgaaggcagc gaagcctcgg ggcccaagcc
     1441 cctccccagc cccctctccc ggacagacgc cttgcccagg gtgtgtttgc tgagtgtctt
     1501 gactaccgtg acaccacgca tggccagagc tagcgtccct actgcctccc gactcctcag
     1561 tggaggagga gctgcggtcc ctctggtgtc tgccatcccc ctccctccct gggcccggcc
     1621 ctggacccgt caggtgcctg tccccagccc caaccccact catgccccgt cgtcctccca
     1681 gacaaatgaa accacgctgc gcttccgatg cccccgcttg ccgtgtaatg gttcagctaa
     1741 tcccatggcg agatgggggc tcactccgga ggaggagcca ggcagcaggg ccttcctgac
     1801 caacagccag ctctgtcctt ccccccagga aacacatgtt catttgtgtg atcatgtata
     1861 gacctcagaa cggaagatag gactgtatat aattgtaata aataccagtt gccactattt
     1921 aa
//
