LOCUS       NM_001195265            3927 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus PDZ domain containing 7 (Pdzd7), mRNA.
ACCESSION   NM_001195265 XM_487568 XM_915960
VERSION     NM_001195265.1
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 3927)
  AUTHORS   Du,H., Zou,L., Ren,R., Li,N., Li,J., Wang,Y., Sun,J., Yang,J.,
            Xiong,W. and Xu,Z.
  TITLE     Lack of PDZD7 long isoform disrupts ankle-link complex and causes
            hearing loss in mice
  JOURNAL   FASEB J 34 (1), 1136-1149 (2020)
   PUBMED   31914662
  REMARK    GeneRIF: PDZD7 long isoform has a role in the ankle-link complex
            and causes hearing loss in mice
REFERENCE   2  (bases 1 to 3927)
  AUTHORS   Dunbar,L.A., Patni,P., Aguilar,C., Mburu,P., Corns,L., Wells,H.R.,
            Delmaghani,S., Parker,A., Johnson,S., Williams,D., Esapa,C.T.,
            Simon,M.M., Chessum,L., Newton,S., Dorning,J., Jeyarajan,P.,
            Morse,S., Lelli,A., Codner,G.F., Peineau,T., Gopal,S.R.,
            Alagramam,K.N., Hertzano,R., Dulon,D., Wells,S., Williams,F.M.,
            Petit,C., Dawson,S.J., Brown,S.D., Marcotti,W., El-Amraoui,A. and
            Bowl,M.R.
  TITLE     Clarin-2 is essential for hearing by maintaining stereocilia
            integrity and function
  JOURNAL   EMBO Mol Med 11 (9), e10288 (2019)
   PUBMED   31448880
REFERENCE   3  (bases 1 to 3927)
  AUTHORS   Du,H., Ren,R., Chen,P., Xu,Z. and Wang,Y.
  TITLE     Identification of Binding Partners of Deafness-Related Protein
            PDZD7
  JOURNAL   Neural Plast 2018, 2062346 (2018)
   PUBMED   29796015
  REMARK    GeneRIF: Several novel PDZD7-binding proteins were identified in a
            Cadm1-knockout model of deafness.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3927)
  AUTHORS   Zou,J., Chen,Q., Almishaal,A., Mathur,P.D., Zheng,T., Tian,C.,
            Zheng,Q.Y. and Yang,J.
  TITLE     The roles of USH1 proteins and PDZ domain-containing USH proteins
            in USH2 complex integrity in cochlear hair cells
  JOURNAL   Hum Mol Genet 26 (3), 624-636 (2017)
   PUBMED   28031293
REFERENCE   5  (bases 1 to 3927)
  AUTHORS   Potter,P.K., Bowl,M.R., Jeyarajan,P., Wisby,L., Blease,A.,
            Goldsworthy,M.E., Simon,M.M., Greenaway,S., Michel,V., Barnard,A.,
            Aguilar,C., Agnew,T., Banks,G., Blake,A., Chessum,L., Dorning,J.,
            Falcone,S., Goosey,L., Harris,S., Haynes,A., Heise,I., Hillier,R.,
            Hough,T., Hoslin,A., Hutchison,M., King,R., Kumar,S., Lad,H.V.,
            Law,G., MacLaren,R.E., Morse,S., Nicol,T., Parker,A., Pickford,K.,
            Sethi,S., Starbuck,B., Stelma,F., Cheeseman,M., Cross,S.H.,
            Foster,R.G., Jackson,I.J., Peirson,S.N., Thakker,R.V., Vincent,T.,
            Scudamore,C., Wells,S., El-Amraoui,A., Petit,C.,
            Acevedo-Arozena,A., Nolan,P.M., Cox,R., Mallon,A.M. and Brown,S.D.
  TITLE     Novel gene function revealed by mouse mutagenesis screens for
            models of age-related disease
  JOURNAL   Nat Commun 7, 12444 (2016)
   PUBMED   27534441
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3927)
  AUTHORS   Chen,Q., Zou,J., Shen,Z., Zhang,W. and Yang,J.
  TITLE     Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both
            required to form the quaternary protein complex associated with
            Usher syndrome type 2
  JOURNAL   J Biol Chem 289 (52), 36070-36088 (2014)
   PUBMED   25406310
REFERENCE   7  (bases 1 to 3927)
  AUTHORS   Hu,Q.X., Dong,J.H., Du,H.B., Zhang,D.L., Ren,H.Z., Ma,M.L., Cai,Y.,
            Zhao,T.C., Yin,X.L., Yu,X., Xue,T., Xu,Z.G. and Sun,J.P.
  TITLE     Constitutive Galphai coupling activity of very large G
            protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7
            protein
  JOURNAL   J Biol Chem 289 (35), 24215-24225 (2014)
   PUBMED   24962568
REFERENCE   8  (bases 1 to 3927)
  AUTHORS   Zou,J., Zheng,T., Ren,C., Askew,C., Liu,X.P., Pan,B., Holt,J.R.,
            Wang,Y. and Yang,J.
  TITLE     Deletion of PDZD7 disrupts the Usher syndrome type 2 protein
            complex in cochlear hair cells and causes hearing loss in mice
  JOURNAL   Hum Mol Genet 23 (9), 2374-2390 (2014)
   PUBMED   24334608
  REMARK    GeneRIF: it is clear that PDZD7 plays an essential role in
            organizing the USH2 complex at ankle links in developing cochlear
            hair cells.
REFERENCE   9  (bases 1 to 3927)
  AUTHORS   Grati,M., Shin,J.B., Weston,M.D., Green,J., Bhat,M.A.,
            Gillespie,P.G. and Kachar,B.
  TITLE     Localization of PDZD7 to the stereocilia ankle-link associates this
            scaffolding protein with the Usher syndrome protein network
  JOURNAL   J Neurosci 32 (41), 14288-14293 (2012)
   PUBMED   23055499
REFERENCE   10 (bases 1 to 3927)
  AUTHORS   Schneider,E., Marker,T., Daser,A., Frey-Mahn,G., Beyer,V.,
            Farcas,R., Schneider-Ratzke,B., Kohlschmidt,N., Grossmann,B.,
            Bauss,K., Napiontek,U., Keilmann,A., Bartsch,O., Zechner,U.,
            Wolfrum,U. and Haaf,T.
  TITLE     Homozygous disruption of PDZD7 by reciprocal translocation in a
            consanguineous family: a new member of the Usher syndrome protein
            interactome causing congenital hearing impairment
  JOURNAL   Hum Mol Genet 18 (4), 655-666 (2009)
   PUBMED   19028668
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC132957.3 and BC096488.1.
            
            On or before Sep 3, 2010 this sequence version replaced
            XM_915960.3, XM_487568.5.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. There are no full-length mouse
            transcripts representing this gene; the genomic coordinates used
            for the transcript record are predicted based on partial mouse
            transcript alignments and on full-length protein alignments with
            human NP_001182192.1.
            
            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##
            RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-355               AC132957.3         152691-153045       c
            356-496             AC132957.3         147836-147976       c
            497-671             AC132957.3         147434-147608       c
            672-848             AC132957.3         146846-147022       c
            849-996             AC132957.3         146440-146587       c
            997-1057            AC132957.3         144812-144872       c
            1058-1453           AC132957.3         144004-144399       c
            1454-1651           AC132957.3         143330-143527       c
            1652-1702           AC132957.3         140908-140958       c
            1703-1878           AC132957.3         140285-140460       c
            1879-1884           AC132957.3         137557-137562       c
            1885-3734           BC096488.1         1-1850
            3735-3769           AC132957.3         134314-134348       c
            3770-3927           BC096488.1         1886-2043
FEATURES             Location/Qualifiers
     source          1..3927
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 38.23 cM"
     gene            1..3927
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /note="PDZ domain containing 7"
                     /db_xref="GeneID:100503041"
                     /db_xref="MGI:MGI:3608325"
     exon            1..355
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            356..496
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            497..671
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            672..848
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            849..996
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1057
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1453
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1651
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..1702
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1878
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1879..1970
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            1971..2062
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2134
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            2135..2734
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            2735..2835
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     exon            2836..3903
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3881..3886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /note="hexamer: AATAAA"
     polyA_site      3903
                     /gene="Pdzd7"
                     /gene_synonym="9130207N01; EG435601; Pdzk7"
                     /note="major polyA site"
ORIGIN      
        1 cgagatctgc cttactaaga ctccagccct actgagaaag ctcatggagc ctggaagacc
       61 aagagccaac cttcggaggg caggcagact ctgtccggat ctgtagggca ctgccctagt
      121 ctcactacta tggcacgtgg tttcacggta ggctttgacc cactgggtct aggagaactc
      181 agctctggct ccctgagctc tgtctcctcc cgaggccacc tgggcagcga ctcaggctcc
      241 acagcaacac gatacctgct gaggaagcag cagcgcctgc tgaatgggcc ctcccgagga
      301 attcgagcct cctcgcccat gggccgggtc atcctcatca actcccccat cgaagccaac
      361 agtgacgaaa gtgacatcat ccacgccgtt cgcgtggaga agagcccctc ggggaggctg
      421 ggtttcagcg tgagaggcgg ctctgagcat ggcttgggta tctttgtcag caaggtggag
      481 gagggaagca gcgcagagcg ggctggcctg tgtgtgggag acaagatcac ggaggtgaac
      541 gggctgagcc tagagagcac cacaatgggg agcgctgtga ggctgctgac cagtagcagc
      601 tgcctacaca tgatggtccg gcgcatgggc cgagtgcccg gcatcaagtt ctccaaggag
      661 aagaccacat gggtggatgt agtgaaccgg aggctggtgg tagagaagtg cagttcaacg
      721 ccgtcggacc gcagctcgga agacggtgtg cgccgcatcg tccatctcta tacaacctcg
      781 gatgacttct gcctaggctt caacatcaga gggggcaaag agtttggcct gggcatctac
      841 gtgtccaaag tggaccatgg ggggctggct gaagagaacg gcatcaaagt gggggaccag
      901 gtcctggcgg ccaacggtgt caggttcgat gacatcagcc acagccaggc cgtggaggtg
      961 ctgaagggac aaacgcacat catgttgacc atcaaggaga ctggccgata ccctgcctac
     1021 aaagagatgg tttcagagta ctgctggctg gatagattga gcaatggggt actgcagcag
     1081 ctgtcgccag cctccgagag cagctccagc gtctcctcct atgcctctag cgccccctgc
     1141 agctcgggct cgctgccctc tgaccgcatg gatgtctgtc tggggccaga ggagcccact
     1201 agccatggcc caggctgggg gcgggcagac acggccatgc agactgagcc tgacctggac
     1261 agccgagtgg aaacttggtg cagcgtaagg ccgaccgtca tcctcaggga cacggccatc
     1321 cgctcggatg gtccctcttc tacccgacac cttgattctg cactttcaga gtcccccaag
     1381 actgctctcc ttctggccct cagccgaccc agaactccca tcactcgatc ccagagccac
     1441 ctgacactgt gggaggagaa gaaacaacgg aagaaggaga agtcgggatc ttctggggag
     1501 aagggggcct tgcagcgctc caagacgctg atgaacctct tcttcaaggg agggcggcag
     1561 gggcggccag caggggacgg gcacagagag gcctggacac tggacagcag aagccccacc
     1621 aaagtccgcc ctcgcctgga cctagagaaa gcggggagtg tggggcctgt gcagaagttt
     1681 gtcacctgga gactaagacg agaccgggag aggggccggg ccctgctctc cgccaggtct
     1741 ggaagcccct ctggccaggc acccactgtg aatgagcagg tgcaggcctg ggaaagtcga
     1801 cggcccctca ttcaggacct ggcccggagg ctgctgacag acgatgaggt actagcagtc
     1861 actcgccact gctcccggta tgtccatgag ggtggtgtgg aggatctggt gcgccccctg
     1921 ctggccatcc tagacaggcc cacgaagctg ctgttgctga gggacatcag gagcgtggtg
     1981 gcccccacag accttggccg cttcgatagc atggtgatgc ctgtggagct ggaggctttt
     2041 gaggctctta agagcagggc agtggggcct tctgctttga gacctaccag gcaagacacg
     2101 ccacccaaac gtcacctcat cacccctgtg cctgatagcc gtgggggctt ttacctgcta
     2161 ccagtgaaca gctcagagga tgaagacgga gagataaggg agaagcttgg ggtccttaag
     2221 gtctccctcg gtgcctctgc tcctcaccac aagggaatcc cccctctaca agacgtgcca
     2281 gttgatgcct tttcgctacg ccgaggcgca tgcgcacctc ctccccagcc acctcctgtg
     2341 gctccccgac ctcccaggcc taactggcta ctgacagaac ccctaagcag agaggacact
     2401 cagcagaacc agagccagac cccagcccaa agctgcagcc gcagtcgcag ccgcagccgc
     2461 agtcgcagcc acagccgagg tcaaggcaag tctcctgggc gcaggcgctc cccttccccg
     2521 gcacccatcg ccactgctgc cacagccaac gggcgttacc acaggcctcg gaaagcaagg
     2581 cccctgcttc cacgacttct ggatgggcag gtggccaaag tgggagccag gcaagggccc
     2641 ttggagaatg gtcggatagc tgaggaagca gtcgggaatg tctccactgg agcgctgagg
     2701 accatcacac tatccaagat gaagcagtct ttgggcatta gcatctctgg gggcatcgag
     2761 tccaaggtgc agcccatggt gaagatagag aagatctttc ccggaggtgc agctttcctc
     2821 tgcggggatc tacaggctgg ctttgagctg gtggcagtgg atggcgaaag cctggagcag
     2881 gtaacccacc agcgagcagt ggacaccatc cgcagggctt accgaaacaa ggctcgggaa
     2941 cctatggaac ttgtggtcag ggtccctggg cctggcctgc tgcccctagc ctctgaccta
     3001 cgagttgtta aggaccagag ccttgctcct gactgtccct ccgcccttgg acctgttgat
     3061 gatgctcgga ttctcaccca gctacctccc cctgaggcta ggcaactcca gcagtctctc
     3121 agctcagctc taaaggtccc tcaaagtatc cctaaactct cccctatact taaggatccc
     3181 catgaccctt cctagtgacc tcaagtcctc ctgctgcctc tgggttctgt gtacctctat
     3241 cctatccatt tgactactga gagcaccacc acactggtgg ctctgatcca ccccggctgt
     3301 caaaagggct ctggcctttc aggacaagct ggatgtccaa gaacaccgtg tgctagtggg
     3361 caacccatgt catgtgcatt ccctaatcct ggactgcttc ccagtaagga gacagacaga
     3421 ctcaagtctg gagcctgtga ctagtgtgag gtttttcacg atggacctgg ctcaccataa
     3481 tctgagggtc gtaaactgag agtcctcaag tggggggagg gtgtcactgc aatcatcccc
     3541 cagcctcaag cagggttcag tgtagaggac aggatgggaa ggcttttcta gttcctcaaa
     3601 actcatggtg tggtccagta ggacccagga ttctactaga ttagtcctaa gaattccatc
     3661 ataggtaggc gagcagccag caagcagaga tggatgtcaa acaaattccc ctgcagtttc
     3721 tttatccatt gcactttttt tttttaaaac aaaacttttt ttttttttta aatttttttc
     3781 ccctttgggt ttgtacaaga aatttacagt gtgaaaaata tacaagtgga aatgaggccg
     3841 taaccctgga actagggagg acggcttggt cacaaacaca aataaacaag acattgctgg
     3901 gttaaaaaaa aaaaaaaaaa aaaaaaa
//
