LOCUS       NM_004813               1668 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript
            variant 1, mRNA.
ACCESSION   NM_004813
VERSION     NM_004813.4
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 1668)
  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   2  (bases 1 to 1668)
  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   3  (bases 1 to 1668)
  AUTHORS   Wei,X., Maharjan,Y., Dorotea,D., Dutta,R.K., Kim,D., Kim,H., Mu,Y.,
            Park,C. and Park,R.
  TITLE     Knockdown of PEX16 Induces Autophagic Degradation of Peroxisomes
  JOURNAL   Int J Mol Sci 22 (15), 7989 (2021)
   PUBMED   34360754
  REMARK    GeneRIF: Knockdown of PEX16 Induces Autophagic Degradation of
            Peroxisomes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1668)
  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   5  (bases 1 to 1668)
  AUTHORS   Fransen,M., Wylin,T., Brees,C., Mannaerts,G.P. and Van
            Veldhoven,P.P.
  TITLE     Human pex19p binds peroxisomal integral membrane proteins at
            regions distinct from their sorting sequences
  JOURNAL   Mol Cell Biol 21 (13), 4413-4424 (2001)
   PUBMED   11390669
REFERENCE   6  (bases 1 to 1668)
  AUTHORS   Sacksteder,K.A., Jones,J.M., South,S.T., Li,X., Liu,Y. and
            Gould,S.J.
  TITLE     PEX19 binds multiple peroxisomal membrane proteins, is
            predominantly cytoplasmic, and is required for peroxisome membrane
            synthesis
  JOURNAL   J Cell Biol 148 (5), 931-944 (2000)
   PUBMED   10704444
REFERENCE   7  (bases 1 to 1668)
  AUTHORS   South,S.T. and Gould,S.J.
  TITLE     Peroxisome synthesis in the absence of preexisting peroxisomes
  JOURNAL   J Cell Biol 144 (2), 255-266 (1999)
   PUBMED   9922452
REFERENCE   8  (bases 1 to 1668)
  AUTHORS   Honsho,M., Tamura,S., Shimozawa,N., Suzuki,Y., Kondo,N. and
            Fujiki,Y.
  TITLE     Mutation in PEX16 is causal in the peroxisome-deficient Zellweger
            syndrome of complementation group D
  JOURNAL   Am J Hum Genet 63 (6), 1622-1630 (1998)
   PUBMED   9837814
REFERENCE   9  (bases 1 to 1668)
  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 1668)
  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 AF118240.1, AC068385.9,
            AB016531.1, BM746616.1 and BC000467.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 24, 2020 this sequence version replaced NM_004813.3.
            
            Summary: The protein encoded by this gene is an integral
            peroxisomal membrane protein. An inactivating nonsense mutation
            localized to this gene was observed in a patient with Zellweger
            syndrome of the complementation group CGD/CG9. Expression of this
            gene product morphologically and biochemically restores the
            formation of new peroxisomes, suggesting a role in peroxisome
            organization and biogenesis. Alternative splicing has been observed
            for this gene and two variants have been described. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses an alternate terminal
            exon. The encoded isoform (1) is shorter than isoform 2 and has a
            unique C-terminus.
            
            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 :: SRR14038197.864275.1,
                                           SRR14038193.2763647.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378750.10/ ENSP00000368024.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-411               AF118240.1         179-589
            412-412             AC068385.9         89660-89660         c
            413-1113            AB016531.1         384-1084
            1114-1469           BM746616.1         180-535
            1470-1662           BC000467.2         1287-1479
            1663-1668           AC068385.9         83607-83612         c
FEATURES             Location/Qualifiers
     source          1..1668
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1668
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /note="peroxisomal biogenesis factor 16"
                     /db_xref="GeneID:9409"
                     /db_xref="HGNC:HGNC:8857"
                     /db_xref="MIM:603360"
     exon            1..178
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1077
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxisome biogenesis factor 16; peroxin 16; peroxisomal
                     membrane protein PEX16"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 16 isoform 1"
                     /protein_id="NP_004804.2"
                     /db_xref="CCDS:CCDS31472.1"
                     /db_xref="GeneID:9409"
                     /db_xref="HGNC:HGNC:8857"
                     /db_xref="MIM:603360"
                     /translation="MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSH
                     ELSELVYSASNLLVLLNDGILRKELRKKLPVSLSQQKLLTWLSVLECVEVFMEMGAAK
                     VWGEVGRWLVIALVQLAKAVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPG
                     NHEQSYVGKRSNRVVRTLQNTPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQET
                     IAEFLYIARPLLHLLSLGLWGQRSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRR
                     RTILLLYYLLRSPFYDRFSEARILFLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYS
                     WG"
     exon            179..214
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            215..291
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            292..425
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            426..526
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            527..607
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            608..760
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            761..833
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            834..953
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1018
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1668
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1134..1139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /note="hexamer: AATAAA"
     polyA_site      1155
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /note="major polyA site"
     regulatory      1641..1646
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
                     /note="hexamer: AGTAAA"
     polyA_site      1668
                     /gene="PEX16"
                     /gene_synonym="PBD8A; PBD8B"
ORIGIN      
        1 gcaggaagca gggcgccgca gcctgtcgta cggtccttct gtgggtctgt cggtgccgag
       61 ggcaggatgg agaagctgcg gctcctgggc ctccgctacc aggagtacgt gactcgtcac
      121 ccggccgcca cggcccagct ggagacagca gtgcggggct tcagttacct gctggcaggt
      181 cgattcgccg attcgcacga gctgtcagag ctggtgtact ctgcctctaa cctgcttgtg
      241 ctgctcaatg acgggatcct acggaaggag cttcggaaaa agttgcctgt gtcgctgtcc
      301 cagcagaagc tgctgacatg gctgagcgtg ctggagtgcg tggaggtgtt catggagatg
      361 ggagctgcca aggtgtgggg tgaagtgggc cgctggcttg tcatcgccct cgtccagctg
      421 gccaaggctg tactgcggat gctcctgctg ctctggttca aggctggcct ccagacttca
      481 ccccctatcg ttccactgga cagagagacc caggcacagc ccccggatgg tgaccacagc
      541 cctggcaacc atgagcagtc ctacgtgggg aagcggtcaa accgggtggt gcgaaccctc
      601 cagaacacgc cgtccctgca ctccaggcac tggggagctc cccagcagcg ggagggacgg
      661 cagcagcagc atcacgagga gctgagtgcg acccccaccc ccctggggct gcaggagacc
      721 atcgcagagt ttttgtacat tgcccggccg ctgctgcact tgctcagcct gggcctgtgg
      781 ggtcagaggt cgtggaaacc ctggctcttg gctggtgttg tggacgtgac cagcctgagc
      841 ctcctgagtg acagaaaggg cctgacccgg agggagcggc gggagctgcg gcgccggacc
      901 atcctgctgc tctactacct gctgcgctct cctttctatg accgcttctc cgaggccagg
      961 atcctcttcc tgctccagtt gctggccgac cacgtccctg gcgttggcct ggtcacaagg
     1021 ccgctcatgg attacttgcc cacctggcag aaaatctact tctacagttg gggctgacag
     1081 acctcccgga aggagggtgt ggggaggggt ggggcaggga gcccctcttc cctaataaaa
     1141 ctgactccgg cagcgtccca gcgtgcggcc tctccgtgcc taccggccag gccccacaca
     1201 cagccctggt cgccaccagc gttcctccca ggacaccctt gactgcgctc tcctgtgacg
     1261 atgccactgc agcccgcacc ttgtcactgc tgggccaaga agccttcact aggagtggga
     1321 tccaggctcc tctcccacag aaagcggtga cttcacctca tggagcccgg gaagctgctc
     1381 gcctcggcag ccataggagc gaacactgct gctctctcgc tggcccctgg tgaggacagg
     1441 aagcctgaac ccgggtgatg gctgaacgct gcccagcgtg tcttctggct ggggccctcc
     1501 gtctgcccct tctccgcagg gccctgtggc tctggcagcc ccaggccatg gcgttgccag
     1561 cctccctgtg acagagcctg gtgaacagtg agcctggctc ccacgcaagt ggcactttaa
     1621 gccctgcatc ctcggttgag agtaaaaggc ttttctccct tagaaaaa
//
