LOCUS       NM_176847               3183 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus USH1 protein network component sans (Ush1g), mRNA.
ACCESSION   NM_176847
VERSION     NM_176847.3
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 3183)
  AUTHORS   Vartanian,V., Krey,J.F., Chatterjee,P., Curtis,A., Six,M.,
            Rice,S.P.M., Jones,S.M., Sampath,H., Allen,C.N., Ryals,R.C.,
            Lloyd,R.S. and Barr-Gillespie,P.G.
  TITLE     Spontaneous allelic variant in deafness-blindness gene Ush1g
            resulting in an expanded phenotype
  JOURNAL   Genes Brain Behav 22 (4), e12849 (2023)
   PUBMED   37328946
REFERENCE   2  (bases 1 to 3183)
  AUTHORS   Avan,P., Le Gal,S., Michel,V., Dupont,T., Hardelin,J.P., Petit,C.
            and Verpy,E.
  TITLE     Otogelin, otogelin-like, and stereocilin form links connecting
            outer hair cell stereocilia to each other and the tectorial
            membrane
  JOURNAL   Proc Natl Acad Sci U S A 116 (51), 25948-25957 (2019)
   PUBMED   31776257
REFERENCE   3  (bases 1 to 3183)
  AUTHORS   Sorusch,N., Yildirim,A., Knapp,B., Janson,J., Fleck,W., Scharf,C.
            and Wolfrum,U.
  TITLE     SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein
            Network to the Intraflagellar Transport Module by Direct Binding to
            IFT-B Proteins
  JOURNAL   Front Cell Dev Biol 7, 216 (2019)
   PUBMED   31637240
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3183)
  AUTHORS   Trouillet,A., Dubus,E., Degardin,J., Estivalet,A., Ivkovic,I.,
            Godefroy,D., Garcia-Ayuso,D., Simonutti,M., Sahly,I., Sahel,J.A.,
            El-Amraoui,A., Petit,C. and Picaud,S.
  TITLE     Cone degeneration is triggered by the absence of USH1 proteins but
            prevented by antioxidant treatments
  JOURNAL   Sci Rep 8 (1), 1968 (2018)
   PUBMED   29386551
  REMARK    GeneRIF: under normal housing conditions, Ush1g(-/-) and Ush1c(-/-)
            albino mice have dysfunctional cone photoreceptors whereas
            pigmented knockout animals have normal photoreceptors.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3183)
  AUTHORS   Delhommel,F., Cordier,F., Bardiaux,B., Bouvier,G.,
            Colcombet-Cazenave,B., Brier,S., Raynal,B., Nouaille,S.,
            Bahloul,A., Chamot-Rooke,J., Nilges,M., Petit,C. and Wolff,N.
  TITLE     Structural Characterization of Whirlin Reveals an Unexpected and
            Dynamic Supramodule Conformation of Its PDZ Tandem
  JOURNAL   Structure 25 (11), 1645-1656 (2017)
   PUBMED   28966015
  REMARK    GeneRIF: C-terminal hairpin extensions of the whirlin PDZ domains
            mediate the transient supramodular assembly, which improves the
            binding capacity of the first domain towards its partners, such as
            Sans.
REFERENCE   6  (bases 1 to 3183)
  AUTHORS   Kikkawa,Y., Shitara,H., Wakana,S., Kohara,Y., Takada,T.,
            Okamoto,M., Taya,C., Kamiya,K., Yoshikawa,Y., Tokano,H.,
            Kitamura,K., Shimizu,K., Wakabayashi,Y., Shiroishi,T., Kominami,R.
            and Yonekawa,H.
  TITLE     Mutations in a new scaffold protein Sans cause deafness in Jackson
            shaker mice
  JOURNAL   Hum Mol Genet 12 (5), 453-461 (2003)
   PUBMED   12588793
  REMARK    GeneRIF: Sans may have an important role in development of the
            stereocilia bundles
REFERENCE   7  (bases 1 to 3183)
  AUTHORS   Yoo,S.Y., Pennesi,M.E., Weeber,E.J., Xu,B., Atkinson,R., Chen,S.,
            Armstrong,D.L., Wu,S.M., Sweatt,J.D. and Zoghbi,H.Y.
  TITLE     SCA7 knockin mice model human SCA7 and reveal gradual accumulation
            of mutant ataxin-7 in neurons and abnormalities in short-term
            plasticity
  JOURNAL   Neuron 37 (3), 383-401 (2003)
   PUBMED   12575948
REFERENCE   8  (bases 1 to 3183)
  AUTHORS   Kitamura,K., Kakoi,H., Yoshikawa,Y. and Ochikubo,F.
  TITLE     Ultrastructural findings in the inner ear of Jackson shaker mice
  JOURNAL   Acta Otolaryngol 112 (4), 622-627 (1992)
   PUBMED   1442008
REFERENCE   9  (bases 1 to 3183)
  AUTHORS   Kitamura,K., Yagi,M., Yoshikawa,Y., Ochidubo,F. and Kato,M.
  TITLE     Vestibular pathology in a new-mutant mouse
  JOURNAL   Acta Otolaryngol Suppl 481, 121-124 (1991)
   PUBMED   1927362
REFERENCE   10 (bases 1 to 3183)
  AUTHORS   Kitamura,K., Yoshikawa,Y. and Ochikubo,F.
  TITLE     An ultrastructural study on vestibular sensory cells in a
            new-mutant mouse
  JOURNAL   Acta Otolaryngol 111 (6), 1013-1020 (1991)
   PUBMED   1763621
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL603828.9.
            
            On Mar 21, 2007 this sequence version replaced NM_176847.2.
            
            Summary: This gene encodes a protein that contains three ankyrin
            domains, a class I PDZ-binding motif and a sterile alpha motif. The
            encoded protein interacts with harmonin, which is associated with
            Usher syndrome type 1C. This protein plays a role in the
            development and maintenance of the auditory and visual systems and
            functions in the cohesion of hair bundles formed by inner ear
            sensory cells. Mutations in this gene are associated with combined
            auditory and vision loss. [provided by RefSeq, Sep 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: AB087502.1, BC137807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849376
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-226               AL603828.9         122609-122834       c
            227-1444            AL603828.9         118901-120118       c
            1445-3183           AL603828.9         116108-117846       c
FEATURES             Location/Qualifiers
     source          1..3183
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 80.84 cM"
     gene            1..3183
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /note="USH1 protein network component sans"
                     /db_xref="GeneID:16470"
                     /db_xref="MGI:MGI:2450757"
     exon            1..226
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1448
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /note="scaffold protein, amkyrin repeats and SAM domain
                     containing; scaffold protein, ankyrin repeats and SAM
                     domain containing; usher syndrome type-1G protein homolog;
                     Usher syndrome 1G homolog; jackson shaker protein;
                     scaffold protein containing ankyrin repeats and SAM
                     domain"
                     /codon_start=1
                     /product="pre-mRNA splicing regulator USH1G"
                     /protein_id="NP_789817.1"
                     /db_xref="CCDS:CCDS25627.1"
                     /db_xref="GeneID:16470"
                     /db_xref="MGI:MGI:2450757"
                     /translation="MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGN
                     LESLRLIVSRGGDPDKCDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPL
                     DMAAMKGHMECVRYLDSIAAKQSSLNPKLVGKLKDKAFREAERRIRECAKMQRKHHER
                     MERRYRRELAERSDTLSFSSLTSSTLSRRLQHMTLGSQLPYSQATLHGTAKGKAKIQK
                     KLERRKQGGEGTFKVSEDGRKSVRSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMF
                     LSDEDSVSRATLAAEPAHSEVSTDSGHDSLFTRPGLGTMVFRRNYVSSGLHGLGREDG
                     GLDGAGTPRGRLHSSPSLDDDSLGSANSLQDRSCGEELPWDELDLGLDEDLEPETSPL
                     ETFLASLHMEDFASLLRHEKIDLEALMLCSDLDLRSISVPLGPRKKILGAVRRRRQAL
                     ERPLALEDTEL"
     exon            227..1444
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..3183
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3164..3169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /note="hexamer: ATTATA"
     polyA_site      3183
                     /gene="Ush1g"
                     /gene_synonym="js; Sans"
                     /note="major polyA site"
ORIGIN      
        1 agtcctcccc gtccggggac aattctcggt gccccttgcc cgtcccgtcc aacttgggcg
       61 ccatgaatga ccagtatcac cgggccgcca gggatggcta tctggaactc ctcaaggagg
      121 ccacccggaa ggagctgaat gcccctgacg aggatggcat gaccccgact ctctgggctg
      181 cctaccatgg caacctggag tctctgcgcc tcattgtgag ccgcgggggt gacccggata
      241 agtgtgacat ctggggaaac acacccttgc atctggcagc ttccaatggt cacctgcact
      301 gcctgtcctt cctcgtctcc ttcggggcca acatctggtg cctggacaat gactaccaca
      361 cgccactgga catggccgct atgaagggcc acatggagtg cgtacgctat ctggattcca
      421 tcgcggccaa gcagagcagc ctcaacccca agctggtggg caagctgaag gacaaggcct
      481 tccgcgaggc agagcggcgc atccgcgagt gcgccaagat gcagcgcaag caccacgagc
      541 gcatggagcg gcgctaccgg cgcgagctgg ccgagcgctc cgacactctc agcttctcca
      601 gcctcacgtc cagcaccctg agccgacggc tgcagcacat gacgctgggc agccagctgc
      661 cctactcgca ggccacgctg cacggtacgg ccaagggcaa ggccaagatc cagaagaagc
      721 tggagaggcg caagcagggg ggcgagggca ccttcaaggt ctctgaggac gggcgcaaaa
      781 gcgtccgatc gctctccggc ctgcagttgg gtagtgatgt gatgtttgtg cgccagggca
      841 cctacgccaa ccccaaggag tggggccgtg ccccactcag ggacatgttc ctctcggacg
      901 aggacagcgt ctcccgtgcc acactggctg ccgagcctgc tcactcggag gtcagcaccg
      961 actcaggcca cgactctttg tttacccgcc ccggcctggg taccatggtg tttcgaagga
     1021 actatgtgag cagcgggttg cacgggctgg gccgagagga cgggggtttg gatggggcag
     1081 gcacgccgcg gggtcggctg catagttccc ccagcctgga cgacgacagc ctaggcagtg
     1141 ccaacagctt gcaggaccgc agttgcgggg aagagctgcc ctgggatgag ctagacttgg
     1201 gcttggatga ggacctggag cccgagacca gccccttgga gaccttcctg gcctcgctgc
     1261 acatggaaga ctttgcctct ctcctgcggc acgagaagat tgacctggag gctctgatgc
     1321 tgtgctctga cctggacctg cgcagcatca gcgtgcccct ggggcctcgg aagaagatcc
     1381 tgggggccgt gaggaggcgc aggcaggctc tggagcgacc cctggccctg gaggacacgg
     1441 agctatgaaa gagctcctct cctcagacca aatgaattgc aagttgccac aacccgcggt
     1501 ggggccaaga ggtcctcacc atcgccattc cagcccccac catcgccatt ccagctgtcc
     1561 cttcttcagg agcaagggtc atttccctct gaaacccagt ctgcacgctg aggcagaggt
     1621 gtagccttga ggcacccgga gggaccacag taccccagag cagcacttct gatggctgtt
     1681 ggagccccga gtcaccttca ttgaaaagct ctgaattaca agaggattgg tgaagggtca
     1741 gccctggaag gagagcaggg gctgattgac cctgagggac ttgatgacat cacagctgag
     1801 gtagagatag agcaggaggg agcttgacca gtcacaggtc catcactgct ccctccacct
     1861 gtcttctcca gccttctggg tgtgtgtgtg tgttcccgtt ctttctcagg ctggaaccct
     1921 attgcttcct acttactata acagaagagt ttgggtaccc cctcctcatg cacccaagaa
     1981 ggaggttccc cagtcagact cttcagccaa atgctccatc tttccttccc cagcacattc
     2041 cctcctacaa aaggccagtc cctcttttcc tccactggcc atggccacag ctggaaagcc
     2101 atgctggggt aggctggagt aattagtact cctcccagct cattctgggg gcccaggctg
     2161 tctcctttaa cttcatccaa ctccaccacg aagccttctc tccccagggc tttcagagga
     2221 ccaggggatc tagatgcaag gcacagcaga attgtggccc ccaggcctgg aaatcacaca
     2281 tctggctgta gaatggcacc tgttaactgc catggtgtct cccaggccta gacaggcagg
     2341 ggcttgacag tttgtgtcag gcccagtgtg ggaaccttct gtgaggaaga tcttggtgga
     2401 tgtagagaac ctgagatcct ggttgtgccc aggctcccaa ggcgctctct ctctctctct
     2461 cgccctctct ctctctttct ctctctctct ctctctctgt attgggtctg gttagaagat
     2521 tccctcagga tctgaagggg ccccagctac tcttgattct ccatggatca tgtaaaaggg
     2581 aaaattcccc gtgcgtccag ccctagagtg gtatggaggt gaaaaccaga gcaaaggcta
     2641 gcccagaggt cctcctcagc gtgtgtcctc acagcaatat caccgaggtt atgggtgtgg
     2701 ctaagtcttt caggagccac acatatgcag agtcatatcc atccttccat ggatttgccc
     2761 ctcctgtcag cagtgggtct ccatcccaga ctcttgcttg gagagcagag agcctctagc
     2821 tcctccttca actccctaga ctgggcagag ggaagacccc cagagacctc tgtgttctgt
     2881 ctggaagtgc actgtcctgt acacccagtt ctgagtgtgg aggaggtggc ttttgtctca
     2941 ccaccacctt gagtctaccc ctccccccag ccttcttgtt ttctgggccc aagcctgggg
     3001 ccacctccaa gtgccgactc ttctttctca gagcccccag gtactgttct ttctcacctc
     3061 ttctgactgt ttactgcctc ggcccctcct ggttctccct gccctggggt gggccagatg
     3121 ctgtgaccct cgccgttgta ccccaaaccc ttccctcagg ctgattatat ttttggtaca
     3181 gca
//
