LOCUS       NM_000288               1454 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens peroxisomal biogenesis factor 7 (PEX7), transcript
            variant 1, mRNA.
ACCESSION   NM_000288
VERSION     NM_000288.4
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 1454)
  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   2  (bases 1 to 1454)
  AUTHORS   Masih,S., Moirangthem,A. and Phadke,S.R.
  TITLE     Twins with PEX7 related intellectual disability and cataract:
            Highlighting phenotypes of peroxisome biogenesis disorder 9B
  JOURNAL   Am J Med Genet A 185 (5), 1504-1508 (2021)
   PUBMED   33586206
  REMARK    GeneRIF: Twins with PEX7 related intellectual disability and
            cataract: Highlighting phenotypes of peroxisome biogenesis disorder
            9B.
REFERENCE   3  (bases 1 to 1454)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1454)
  AUTHORS   Niwa,H., Miyauchi-Nanri,Y., Okumoto,K., Mukai,S., Noi,K., Ogura,T.
            and Fujiki,Y.
  TITLE     A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a
            novel dynein-type AAA+ protein
  JOURNAL   J Biochem 164 (6), 437-447 (2018)
   PUBMED   30204880
  REMARK    GeneRIF: Data suggest that P7BP2 is localized to peroxisomes by
            binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type
            2 peroxisomal targeting signal peptide) in N-terminal region of
            P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2
            = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5;
            PEX7 = peroxisomal biogenesis factor-7)
REFERENCE   5  (bases 1 to 1454)
  AUTHORS   Purdue,P.E., Zhang,J.W., Skoneczny,M. and Lazarow,P.B.
  TITLE     Rhizomelic chondrodysplasia punctata is caused by deficiency of
            human PEX7, a homologue of the yeast PTS2 receptor
  JOURNAL   Nat Genet 15 (4), 381-384 (1997)
   PUBMED   9090383
REFERENCE   6  (bases 1 to 1454)
  AUTHORS   Motley,A.M., Hettema,E.H., Hogenhout,E.M., Brites,P., ten
            Asbroek,A.L., Wijburg,F.A., Baas,F., Heijmans,H.S., Tabak,H.F.,
            Wanders,R.J. and Distel,B.
  TITLE     Rhizomelic chondrodysplasia punctata is a peroxisomal protein
            targeting disease caused by a non-functional PTS2 receptor
  JOURNAL   Nat Genet 15 (4), 377-380 (1997)
   PUBMED   9090382
REFERENCE   7  (bases 1 to 1454)
  AUTHORS   Braverman,N., Steel,G., Obie,C., Moser,A., Moser,H., Gould,S.J. and
            Valle,D.
  TITLE     Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible
            for rhizomelic chondrodysplasia punctata
  JOURNAL   Nat Genet 15 (4), 369-376 (1997)
   PUBMED   9090381
REFERENCE   8  (bases 1 to 1454)
  AUTHORS   Waterham,H.R., Wanders,R.J.A. and Leroy,B.P.
  TITLE     Adult Refsum Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301527
REFERENCE   9  (bases 1 to 1454)
  AUTHORS   Braverman,N.E., Steinberg,S.J., Fallatah,W., Duker,A. and
            Bober,M.B.
  TITLE     Rhizomelic Chondrodysplasia Punctata Type 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301447
REFERENCE   10 (bases 1 to 1454)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP246238.1, U76560.1 and
            BQ011494.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000288.3.
            
            Summary: This gene encodes the cytosolic receptor for the set of
            peroxisomal matrix enzymes targeted to the organelle by the
            peroxisome targeting signal 2 (PTS2). Defects in this gene cause
            peroxisome biogenesis disorders (PBDs), which are characterized by
            multiple defects in peroxisome function. There are at least 14
            complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11
            (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1
            (RCDP1), and Refsum disease (RD). [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 :: ERR279826.6424.1, U88871.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318471.5/ ENSP00000315680.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                BP246238.1         29-54
            27-1413             U76560.1           1-1387
            1414-1454           BQ011494.1         18-58               c
FEATURES             Location/Qualifiers
     source          1..1454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..1454
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="peroxisomal biogenesis factor 7"
                     /db_xref="GeneID:5191"
                     /db_xref="HGNC:HGNC:8860"
                     /db_xref="MIM:601757"
     exon            1..204
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1046
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxin-7; peroxisomal targeting signal 2 receptor;
                     peroxisome targeting signal 2 receptor; peroxisomal PTS2
                     receptor"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 7 isoform 1"
                     /protein_id="NP_000279.1"
                     /db_xref="CCDS:CCDS5180.1"
                     /db_xref="GeneID:5191"
                     /db_xref="HGNC:HGNC:8860"
                     /db_xref="MIM:601757"
                     /translation="MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAG
                     CGTLLILDPDEAGLRLFRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAG
                     PLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYS
                     TIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGA
                     VDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPD
                     SLLETVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA"
     exon            205..262
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            263..413
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            414..491
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            492..600
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            601..707
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            708..821
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            822..877
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            878..977
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1454
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1423..1428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="hexamer: AATAAA"
     polyA_site      1454
                     /gene="PEX7"
                     /gene_synonym="PBD9B; PTS2R; RCDP1; RD"
                     /note="major polyA site"
ORIGIN      
        1 aaccgcgcca gtgtgcctcc gactcggaac ggcttccgcg gccggggcag cgagggccgg
       61 gggcggcggg cgggatgagt gcggtgtgcg gtggagcggc gcggatgctg cggacgccgg
      121 gacgccacgg ctacgccgcc gagttctccc cgtacctgcc gggccgcctg gcctgcgcca
      181 ccgcgcagca ctacggcatc gcgggctgtg gaaccctact aatattggat ccagatgaag
      241 ctgggctaag gctttttaga agctttgact ggaatgatgg tttgtttgat gtgacttgga
      301 gtgagaacaa cgaacatgtc ctcatcacct gtagtggcga tggctcgctg cagctctggg
      361 acactgccaa agctgcaggg ccactgcaag tctataaaga acacgctcag gaggtgtata
      421 gtgttgattg gagccaaacc agaggtgaac agcttgtggt gtctggctca tgggatcaaa
      481 ctgtcaaatt gtgggatcca actgttggaa agtctctgtg cacctttaga ggccatgaaa
      541 gtattattta tagcacaatc tggtctcccc acatccctgg ttgttttgct tcagcctcag
      601 gtgatcagac tctgagaata tgggatgtga aggcagcagg agtaagaatc gtgattcctg
      661 cacatcaggc agaaatcttg agttgtgact ggtgtaaata caatgagaat ttgctggtga
      721 ccggggcggt tgactgtagt ttgagaggct gggacttaag gaatgtacga caaccagtgt
      781 ttgaacttct tggtcatacc tatgctatta ggagggtgaa attttcacca tttcatgctt
      841 ctgtgctggc ctcttgctcg tatgatttta ctgtaagatt ctggaacttt tcaaagcctg
      901 actctcttct tgaaacagtg gagcatcata cagagtttac ttgtggttta gacttcagtc
      961 ttcagagccc cactcaggtg gctgactgtt cttgggatga aacaataaag atctatgacc
     1021 ctgcttgtct tactattcct gcttgagata cactactttg gtcagaaaca gaggatgttg
     1081 gctgaagaac tgcctaacag caaataaatt aactatggaa aacatagaca ttatgctttt
     1141 atatgctatt cagatttcaa atctttccaa tttaccctgg aatcagtttt gagggagctg
     1201 ataaagactt tagctgactc gttaagcctg atacataagc catatttaaa attctaagaa
     1261 ataattaatg ttatgatata tcttgtagta tctattaaaa tgtctctggg tcataaaatg
     1321 gattaaaata tgggagatca gtaggttata cttatataga tagtgatata tttcattttt
     1381 aatttgtcat ttttgatgta aaatataatc actgctgtga taaataaact atctattgat
     1441 catttatcat ttta
//
