LOCUS       NM_002857               3653 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript
            variant 1, mRNA.
ACCESSION   NM_002857 XM_378188
VERSION     NM_002857.4
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 3653)
  AUTHORS   Liu,T., Liang,L., Zhao,P., Lin,W., Zhuang,Y., Jiang,L., Chen,H. and
            Li,C.
  TITLE     The M2 Protein of the Influenza A Virus Interacts with PEX19 to
            Facilitate Virus Replication by Disrupting the Function of
            Peroxisome
  JOURNAL   Viruses 16 (8), 1309 (2024)
   PUBMED   39205283
  REMARK    GeneRIF: The M2 Protein of the Influenza A Virus Interacts with
            PEX19 to Facilitate Virus Replication by Disrupting the Function of
            Peroxisome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3653)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   3  (bases 1 to 3653)
  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 3653)
  AUTHORS   Mayerhofer,P.U., Kattenfeld,T., Roscher,A.A. and Muntau,A.C.
  TITLE     Two splice variants of human PEX19 exhibit distinct functions in
            peroxisomal assembly
  JOURNAL   Biochem Biophys Res Commun 291 (5), 1180-1186 (2002)
   PUBMED   11883941
  REMARK    GeneRIF: a considerable functional diversity of the proteins
            encoded by two PEX19 splice variants and thereby provide first
            experimental evidence for specific biological functions of the
            different predicted domains of the PEX19 protein.
            GeneRIF: ALDRP interacts with PEX19 splice variants PEX19-delta-E2
            and PEX19-delta-E8.
            GeneRIF: MP70 interacts with PEX19 splice variants PEX19-delta-E2
            and PEX19p-delta-E8.
REFERENCE   5  (bases 1 to 3653)
  AUTHORS   Matsuzono,Y., Kinoshita,N., Tamura,S., Shimozawa,N., Hamasaki,M.,
            Ghaedi,K., Wanders,R.J., Suzuki,Y., Kondo,N. and Fujiki,Y.
  TITLE     Human PEX19: cDNA cloning by functional complementation, mutation
            analysis in a patient with Zellweger syndrome, and potential role
            in peroxisomal membrane assembly
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 2116-2121 (1999)
   PUBMED   10051604
REFERENCE   6  (bases 1 to 3653)
  AUTHORS   Gotte,K., Girzalsky,W., Linkert,M., Baumgart,E., Kammerer,S.,
            Kunau,W.H. and Erdmann,R.
  TITLE     Pex19p, a farnesylated protein essential for peroxisome biogenesis
  JOURNAL   Mol Cell Biol 18 (1), 616-628 (1998)
   PUBMED   9418908
REFERENCE   7  (bases 1 to 3653)
  AUTHORS   Kammerer,S., Arnold,N., Gutensohn,W., Mewes,H.W., Kunau,W.H.,
            Hofler,G., Roscher,A.A. and Braun,A.
  TITLE     Genomic organization and molecular characterization of a gene
            encoding HsPXF, a human peroxisomal farnesylated protein
  JOURNAL   Genomics 45 (1), 200-210 (1997)
   PUBMED   9339377
REFERENCE   8  (bases 1 to 3653)
  AUTHORS   Braun,A., Kammerer,S., Weissenhorn,W., Weiss,E.H. and Cleve,H.
  TITLE     Sequence of a putative human housekeeping gene (HK33) localized on
            chromosome 1
  JOURNAL   Gene 146 (2), 291-295 (1994)
   PUBMED   8076834
REFERENCE   9  (bases 1 to 3653)
  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 3653)
  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 X75535.1, AL513282.10 and
            BC064979.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_002857.3.
            
            Summary: This gene is necessary for early peroxisomal biogenesis.
            It acts both as a cytosolic chaperone and as an import receptor for
            peroxisomal membrane proteins (PMPs). 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. These disorders have at
            least 14 complementation groups, with more than one phenotype being
            observed for some 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), as well as peroxisome biogenesis disorder
            complementation group 14 (PBD-CG14), which is also known as
            PBD-CGJ. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1, also known as PxFall or
            PEX19all) represents the longest transcript and encodes the longer
            isoform (a).
            
            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 :: X75535.1, SRR1803614.202691.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368072.10/ ENSP00000357051.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3064              X75535.1           2-3065
            3065-3547           AL513282.10        12658-13140         c
            3548-3648           X75535.1           3549-3649
            3649-3651           BC064979.1         553-555
            3652-3653           AL513282.10        12552-12553         c
FEATURES             Location/Qualifiers
     source          1..3653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..3653
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="peroxisomal biogenesis factor 19"
                     /db_xref="GeneID:5824"
                     /db_xref="HGNC:HGNC:9713"
                     /db_xref="MIM:600279"
     exon            1..79
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..909
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="isoform a is encoded by transcript variant 1;
                     peroxisomal farnesylated protein; housekeeping gene, 33kD;
                     peroxin-19; 33 kDa housekeeping protein"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 19 isoform a"
                     /protein_id="NP_002848.1"
                     /db_xref="CCDS:CCDS1201.1"
                     /db_xref="GeneID:5824"
                     /db_xref="HGNC:HGNC:9713"
                     /db_xref="MIM:600279"
                     /translation="MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTA
                     PDASGPQKRSPGDTAKDALFASQEKFFQELFDSELASQATAEFEKAMKELAEEEPHLV
                     EQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
                     GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKY
                     QEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGL
                     NFDLDALNLSGPPGASGEQCLIM"
     exon            80..189
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            190..355
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            356..441
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            442..603
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            604..780
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            781..825
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            826..3653
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1960..1965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="hexamer: AATAAA"
     polyA_site      1980
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="major polyA site"
     regulatory      3568..3573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3586
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="major polyA site"
     regulatory      3629..3634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="hexamer: AATACA"
     polyA_site      3653
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
ORIGIN      
        1 ggtagcaaga tggccgccgc tgaggaaggc tgtagtgtcg gggccgaagc ggacagggaa
       61 ttggaggagc ttctggaaag tgctcttgat gatttcgata aagccaaacc ctccccagca
      121 cccccttcta ccaccacggc ccctgatgct tcggggcccc agaagagatc gccaggagac
      181 actgccaaag atgccctctt cgcttcccaa gagaagtttt tccaggaact attcgacagt
      241 gaactggctt cccaagccac tgcggagttc gagaaggcaa tgaaggagtt ggctgaggaa
      301 gaaccccacc tggtggagca gttccaaaag ctctcagagg ctgcagggag agtgggcagt
      361 gatatgacct cccaacaaga attcacttct tgcctaaagg aaacactaag tggattagcc
      421 aaaaatgcca ctgaccttca gaactccagc atgtcggaag aagagctgac caaggccatg
      481 gaggggctag gcatggacga aggggatggg gaagggaaca tcctccccat catgcagagt
      541 attatgcaga acctactctc caaggatgtg ctgtacccat cactgaagga gatcacagaa
      601 aagtatccag aatggttgca gagtcatcgg gaatctctac ctccagagca gtttgaaaaa
      661 tatcaggagc agcacagcgt catgtgcaaa atatgtgagc agtttgaggc agagaccccc
      721 acagacagtg aaaccactca aaaggctcgt tttgagatgg tgctggatct tatgcagcag
      781 ctacaagatt taggccatcc tccaaaagag ctggctggag agatgcctcc tggcctcaac
      841 tttgacctgg atgccctcaa tctttcgggc ccaccaggtg ccagtggtga acagtgtctg
      901 atcatgtgaa acacaacacg ttttcctctc tgagtcccag ctatggggaa catctggagt
      961 cagcagaacc attgggacct gaggcaggag tgtcacctgc gggagaagtc tgcccgctgc
     1021 cctctgtcat cccattcaag attgtgccat accagctgag gtttttcctc tgtctctcta
     1081 ggaatagggt ctgtttcaca ggccatttct gtgaacccta ctccattgtg gtttctgcca
     1141 ctatcaaagt tccagctacc tgcaaggtga aggaaggcat cccttttggg gcatgcactt
     1201 tctttccttt ctcaaaataa tgttatatgt ggccacactg atgttcacct ttacgtccag
     1261 ggtctttgtg ccttgtctct actccctctc ttggatctgg ggaggagggg cagagacctg
     1321 ggactctgta tttctatagt tctcctggca gagcctttga gaatggggag aaacagcctg
     1381 ggctggggct acaggtctgt cactatgctc tcttgccttc agacagacca ttctgaattc
     1441 tctaaaggga aagggctttt gcatctaatc acaatagagt tgaaagagag gccttaggat
     1501 tctcctctct ctaggtgctg agccctcacc tccctgttcc aggctgagaa ctcaaatggt
     1561 taccctgctt cttcctacaa tgctgtgtga tatgggtgaa cccagcccct gaccttcctc
     1621 tatcccctgc ccatcctccc ttttacctcc tctctttttt aaacacctgt ttatcccaac
     1681 ctttttgagc tcaagctgtg ataaagaagg gcccatccta tttcccctca tctagtccat
     1741 ttacgattct cactgactcc ccgtcttcct ggcagacaca aataaaccca gtgtcaggtc
     1801 taggaaatta atggctattc ttccccagat acattctggc ttatttgaga tacatgattc
     1861 tcttagaatc ctgtcccttg gttcaggaaa gtagcttgga aaaggagtag gggtatagct
     1921 tgggtccctt ttcctgcaag gccccatggg gcagaatata ataaatattc tgagtgagga
     1981 gtgtggtctt tttctgatct tcctcagctt ccgtaagttg cagagtgagg tatattagga
     2041 gactagttct acacaatatt gtaatgctgg gttccatcaa cacccacctt ccacaactca
     2101 gtctgcacct cagttggcaa aggagactgg atggccatct ttcctcatgt tcccttgagt
     2161 atttcaatgt agaaagccct tcaagtggta ttatatttta accttttaca ttattgttat
     2221 taatgttagt aatatattgt tatgttttct aaattatttt tctttaagct gacgtggctt
     2281 tttttctgtg gctcccagtg ggtctacgga ccttggctga catatgttgg taggtactct
     2341 ggtcagctca gctggctgtc ctggttcact cagaagataa gtctctccaa agcaaattca
     2401 catgcattat gagtcgcttt gagcttctga catgtcactt gccccgaggt taaaactttt
     2461 caccccttga agaccttaca tgttttatgg tattggtgag gaaggaaatg ttctcaaggt
     2521 ctcaggctat ttgggaaatt ccaactccta taccttacca gagcatggaa gagcccagat
     2581 ctgaatgtaa aacgtctctg ttctgccaga gatggaaaaa atacaggtat acttgtgata
     2641 tagtcatggg gcttcagtgt cactattttc tccttaaagc tccagccaaa aactggacaa
     2701 ggatagagag gaggagggaa gaacaaaaga gcccttctct atgaaccttg tgccttctgt
     2761 cctaccagtt ttcttttaca gattctcact tctgctagcc tagccagggc ttactccagg
     2821 aatctaaata gatgccctag tccactttat ctttgttccc aaggcactca tttttatttt
     2881 gattttgatt gaatgtgagc aggttgacct caggtcacac tttgttccaa aaacttttgg
     2941 aattattcca ggacttgtgg tggagttatg gtactctagg gcagtctttc tcaaactatg
     3001 tatggtaaag gaccaggttt tttgttttcc agtccttcac ttatcaatat gcattcctat
     3061 tgcccatgac aggtatggag ttcacactgt gtgctgccga cccggcaagt ttgacagcac
     3121 ccaaactggc cagactgttc tgtaggttaa gtccattgat catgtacttg gatatcacag
     3181 caacattgaa atgctaaaaa gtttttaaac actctcaatt tctaattcac catgtcacag
     3241 actggtgaaa aaaaaaaaaa ggtgttcact gaccagcaca agtctgcaga tcatctttga
     3301 gtagcactgt tttggggccc tcggtctctc tgaagaccct agcagaactg atacctacct
     3361 gtatctcttg ttctctccta tttgagtttc acttccagag aacttgttct tcagcaagaa
     3421 tgtgtcacta gtaaggacat ctctagcatt tctctagcct tccttttctg ctgctcaaaa
     3481 ataatcgtta caaagcttag gtttaagctg tatatgaaat atttatgcga ctctcaaact
     3541 ttaaaggagt tgctcctttg ttccaaaatt aaatgtgtta gataaatttg tgattgtatg
     3601 ggtggcttca tgaattaaga attgaattaa tacagacttt ttgataattg gga
//
