LOCUS       NM_008822               1894 bp    mRNA    linear   ROD 03-JUN-2024
DEFINITION  Mus musculus peroxisomal biogenesis factor 7 (Pex7), transcript
            variant 1, mRNA.
ACCESSION   NM_008822
VERSION     NM_008822.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1894)
  AUTHORS   Fallatah,W., Cui,W., Di Pietro,E., Carter,G.T., Pounder,B.,
            Dorninger,F., Pifl,C., Moser,A.B., Berger,J. and Braverman,N.E.
  TITLE     A Pex7 Deficient Mouse Series Correlates Biochemical and
            Neurobehavioral Markers to Genotype Severity-Implications for the
            Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
  JOURNAL   Front Cell Dev Biol 10, 886316 (2022)
   PUBMED   35898397
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1894)
  AUTHORS   Fallatah,W., Smith,T., Cui,W., Jayasinghe,D., Di Pietro,E.,
            Ritchie,S.A. and Braverman,N.
  TITLE     Oral administration of a synthetic vinyl-ether plasmalogen
            normalizes open field activity in a mouse model of rhizomelic
            chondrodysplasia punctata
  JOURNAL   Dis Model Mech 13 (1) (2020)
   PUBMED   31862688
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1894)
  AUTHORS   Luoma,A.M., Kuo,F., Cakici,O., Crowther,M.N., Denninger,A.R.,
            Avila,R.L., Brites,P. and Kirschner,D.A.
  TITLE     Plasmalogen phospholipids protect internodal myelin from oxidative
            damage
  JOURNAL   Free Radic Biol Med 84, 296-310 (2015)
   PUBMED   25801291
REFERENCE   4  (bases 1 to 1894)
  AUTHORS   Rodrigues,T.A., Alencastre,I.S., Francisco,T., Brites,P.,
            Fransen,M., Grou,C.P. and Azevedo,J.E.
  TITLE     A PEX7-centered perspective on the peroxisomal targeting signal
            type 2-mediated protein import pathway
  JOURNAL   Mol Cell Biol 34 (15), 2917-2928 (2014)
   PUBMED   24865970
REFERENCE   5  (bases 1 to 1894)
  AUTHORS   da Silva,T.F., Eira,J., Lopes,A.T., Malheiro,A.R., Sousa,V.,
            Luoma,A., Avila,R.L., Wanders,R.J., Just,W.W., Kirschner,D.A.,
            Sousa,M.M. and Brites,P.
  TITLE     Peripheral nervous system plasmalogens regulate Schwann cell
            differentiation and myelination
  JOURNAL   J Clin Invest 124 (6), 2560-2570 (2014)
   PUBMED   24762439
REFERENCE   6  (bases 1 to 1894)
  AUTHORS   Evsikov,A.V., Graber,J.H., Brockman,J.M., Hampl,A., Holbrook,A.E.,
            Singh,P., Eppig,J.J., Solter,D. and Knowles,B.B.
  TITLE     Cracking the egg: molecular dynamics and evolutionary aspects of
            the transition from the fully grown oocyte to embryo
  JOURNAL   Genes Dev 20 (19), 2713-2727 (2006)
   PUBMED   17015433
REFERENCE   7  (bases 1 to 1894)
  AUTHORS   Brites,P., Motley,A.M., Gressens,P., Mooyer,P.A., Ploegaert,I.,
            Everts,V., Evrard,P., Carmeliet,P., Dewerchin,M., Schoonjans,L.,
            Duran,M., Waterham,H.R., Wanders,R.J. and Baes,M.
  TITLE     Impaired neuronal migration and endochondral ossification in Pex7
            knockout mice: a model for rhizomelic chondrodysplasia punctata
  JOURNAL   Hum Mol Genet 12 (18), 2255-2267 (2003)
   PUBMED   12915479
  REMARK    GeneRIF: Mutations in the Pex7 gene cause impaired neuronal
            migration and endochondral ossification.
REFERENCE   8  (bases 1 to 1894)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   9  (bases 1 to 1894)
  AUTHORS   Mukai,S., Ghaedi,K. and Fujiki,Y.
  TITLE     Intracellular localization, function, and dysfunction of the
            peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian
            cells
  JOURNAL   J Biol Chem 277 (11), 9548-9561 (2002)
   PUBMED   11756410
REFERENCE   10 (bases 1 to 1894)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DV660555.1, BC132213.1 and AC171277.9.
            
            On Jun 18, 2009 this sequence version replaced NM_008822.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK160195.1, U69171.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164135, SAMN01164143
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                DV660555.1         1-27
            28-1152             BC132213.1         1-1125
            1153-1894           AC171277.9         72320-73061         c
FEATURES             Location/Qualifiers
     source          1..1894
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 9.16 cM"
     gene            1..1894
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /note="peroxisomal biogenesis factor 7"
                     /db_xref="GeneID:18634"
                     /db_xref="MGI:MGI:1321392"
     exon            1..216
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1058
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peroxisomal targeting signal 2 receptor; peroxin-7; PTS2
                     receptor; peroxisome biogenesis factor 7"
                     /codon_start=1
                     /product="peroxisomal biogenesis factor 7 isoform 1"
                     /protein_id="NP_032848.1"
                     /db_xref="CCDS:CCDS23720.1"
                     /db_xref="GeneID:18634"
                     /db_xref="MGI:MGI:1321392"
                     /translation="MSAARTLRVPGRHGYAAEFSPYLPGRLACAAAQHYGIAGCGTLL
                     VLDQNESGLQIFRSFDWNDGLFDVTWSENNEHVLVTCSGDGSLQLWDTAKATGPLQVY
                     KEHTQEVYSVDWSQTRGEQLVVSGSWDQTVKVWDPTVGNSLCTFRGHESVIYSTIWSP
                     HIPGCFASASGDQTLRIWDVKTTGVRIVIPAHQTEILSCDWCKYNENLVVTGAVDCSL
                     RGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDPLLET
                     VEHHTEFTCGLDLSLQSPTQVADCSWDETIKIYDPVCLTVPG"
     exon            217..274
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            275..425
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            426..503
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            504..612
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            613..719
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            720..833
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            834..889
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            890..989
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1894
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1436..1441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /note="hexamer: AATAAA"
     polyA_site      1459
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /note="major polyA site"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
                     /note="hexamer: AATAAA"
     polyA_site      1893
                     /gene="Pex7"
                     /gene_synonym="MmPEX7"
ORIGIN      
        1 cccggccttc ctggactttc agtgagccgc agtggggcac ttctacctcg agactgtttc
       61 cgcgctcggg ccgggaggcc gagtgacggc gggcgagcgg aatgagcgcg gcgcggacgc
      121 tgcgggtgcc cggccgccac ggctatgcgg ccgagttctc tccgtacctg ccgggccgcc
      181 tggcctgtgc cgcggcgcag cactacggca tcgcgggctg tggaactcta ttagtattgg
      241 atcaaaatga atctggactt cagattttta gaagctttga ctggaatgac ggcttgtttg
      301 acgttacctg gagtgaaaac aatgagcatg tccttgtcac ctgtagtggt gatggctcac
      361 tgcagctctg ggacactgcc aaagccacag gccctctcca agtctataaa gagcacacgc
      421 aggaggtgta tagtgttgat tggagccaaa ccagaggtga acaacttgtt gtgtctggct
      481 catgggatca aactgtcaaa gtgtgggatc caactgttgg aaattctctg tgtaccttta
      541 ggggccatga gagtgtcatt tacagcacaa tctggtctcc tcacatccct ggttgtttcg
      601 cttcagcctc aggagatcag actctgagga tctgggatgt gaagaccaca ggagtacgga
      661 ttgtgattcc agcacatcag acggaaatcc tgagctgtga ctggtgtaaa tacaatgaga
      721 acttggtggt gacaggtgcg gttgactgta gtttgagagg ctgggactta aggaatgtgc
      781 gacagcctgt gtttgaactt ctcggtcaca catatgctat caggagggtg aaattttcac
      841 cgttccacgc ctccgtgctg gcctcctgct cctatgactt cactgtaaga ttctggaatt
      901 tttcaaagcc tgatccgctt ctggaaacag tggagcatca cacagagttt acttgtggct
      961 tagacctgag tctccagagc cccactcagg tagcagactg ttcctgggat gaaaccataa
     1021 agatctatga ccctgtttgt ctcacggttc ctggttaaga cacgctgctc tagtcagaaa
     1081 gagatactga ctggcagact gcttacttag ctagcatcag agcactaact actgaaaggg
     1141 aaaaattagg cctttacatg tactgagatt tcacaattct caaacttaca ttttgaggca
     1201 tctgataaag acattgtgtc atattgtagt cctggtacat aaactatgtt ttctggaatc
     1261 ctaaagaata attgttgtta taatatatct tgtaatgtct attaaaatgt tatctctata
     1321 ttgtaaaatg acataaaata tgggaggtta gtagattaca tggacagtaa tatattttgt
     1381 tattaatttg tcattttgga tgtacaatat aaccactcct gttgataaaa atcaaaataa
     1441 accacatttc ttgatcatat atcatttatg acatgtcaat gaggttgcct ttttagaatg
     1501 tactgtttgt atggatatga ttttatattt aatgtagctg cagctgatgg tcaaaaatga
     1561 atgctagcag agatgtaagt tacttggaag tcccctattg agtgccacat ttgcctgcat
     1621 atatgctcag tggcattctc tcaggattgc tgagctgtta gctggacagt gctgggagct
     1681 gagtttgttt tgaatgcctt atatccacat ctttttaggt actggaccca ggacttctct
     1741 ctgttagcta agcatggttt cacacattta taatgccagg ccttgggaag cagaggcagg
     1801 aggattgcaa gtcttgggtc agtctgagct accaaatgaa accctgtcca tctcctagtg
     1861 taaatgaata aataaacttg ttaatttaaa aaat
//
