LOCUS       NM_173477               3558 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens USH1 protein network component sans (USH1G),
            transcript variant 1, mRNA.
ACCESSION   NM_173477
VERSION     NM_173477.5
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 3558)
  AUTHORS   Fritze,J.S., Stiehler,F.F. and Wolfrum,U.
  TITLE     Pathogenic Variants in USH1G/SANS Alter Protein Interaction with
            Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
  JOURNAL   Int J Mol Sci 24 (24), 17608 (2023)
   PUBMED   38139438
  REMARK    GeneRIF: Pathogenic Variants in USH1G/SANS Alter Protein
            Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the
            Spliceosome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3558)
  AUTHORS   Yildirim,A., Mozaffari-Jovin,S., Wallisch,A.K., Schafer,J.,
            Ludwig,S.E.J., Urlaub,H., Luhrmann,R. and Wolfrum,U.
  TITLE     SANS (USH1G) regulates pre-mRNA splicing by mediating the
            intra-nuclear transfer of tri-snRNP complexes
  JOURNAL   Nucleic Acids Res 49 (10), 5845-5866 (2021)
   PUBMED   34023904
  REMARK    GeneRIF: SANS (USH1G) regulates pre-mRNA splicing by mediating the
            intra-nuclear transfer of tri-snRNP complexes.
REFERENCE   3  (bases 1 to 3558)
  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   4  (bases 1 to 3558)
  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   5  (bases 1 to 3558)
  AUTHORS   Baux,D., Faugere,V., Larrieu,L., Le Guedard-Mereuze,S., Hamroun,D.,
            Beroud,C., Malcolm,S., Claustres,M. and Roux,A.F.
  TITLE     UMD-USHbases: a comprehensive set of databases to record and
            analyse pathogenic mutations and unclassified variants in seven
            Usher syndrome causing genes
  JOURNAL   Hum Mutat 29 (8), E76-E87 (2008)
   PUBMED   18484607
REFERENCE   6  (bases 1 to 3558)
  AUTHORS   Ouyang,X.M., Yan,D., Du,L.L., Hejtmancik,J.F., Jacobson,S.G.,
            Nance,W.E., Li,A.R., Angeli,S., Kaiser,M., Newton,V., Brown,S.D.,
            Balkany,T. and Liu,X.Z.
  TITLE     Characterization of Usher syndrome type I gene mutations in an
            Usher syndrome patient population
  JOURNAL   Hum Genet 116 (4), 292-299 (2005)
   PUBMED   15660226
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3558)
  AUTHORS   Ahmed,Z.M., Riazuddin,S., Riazuddin,S. and Wilcox,E.R.
  TITLE     The molecular genetics of Usher syndrome
  JOURNAL   Clin Genet 63 (6), 431-444 (2003)
   PUBMED   12786748
  REMARK    Review article
REFERENCE   8  (bases 1 to 3558)
  AUTHORS   Weil,D., El-Amraoui,A., Masmoudi,S., Mustapha,M., Kikkawa,Y.,
            Laine,S., Delmaghani,S., Adato,A., Nadifi,S., Zina,Z.B., Hamel,C.,
            Gal,A., Ayadi,H., Yonekawa,H. and Petit,C.
  TITLE     Usher syndrome type I G (USH1G) is caused by mutations in the gene
            encoding SANS, a protein that associates with the USH1C protein,
            harmonin
  JOURNAL   Hum Mol Genet 12 (5), 463-471 (2003)
   PUBMED   12588794
REFERENCE   9  (bases 1 to 3558)
  AUTHORS   Mustapha,M., Chouery,E., Torchard-Pagnez,D., Nouaille,S.,
            Khrais,A., Sayegh,F.N., Megarbane,A., Loiselet,J., Lathrop,M.,
            Petit,C. and Weil,D.
  TITLE     A novel locus for Usher syndrome type I, USH1G, maps to chromosome
            17q24-25
  JOURNAL   Hum Genet 110 (4), 348-350 (2002)
   PUBMED   11941484
REFERENCE   10 (bases 1 to 3558)
  AUTHORS   Koenekoop,R.K., Arriaga,M.A., Trzupek,K.M. and Lentz,J.J.
  TITLE     Usher Syndrome Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC403891.1, BC101096.2 and
            AC087651.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_173477.4.
            
            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 Usher
            syndrome type 1G (USH1G). Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2013].
            
            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 :: AK091243.1, AK289804.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000614341.5/ ENSP00000480279.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                DC403891.1         9-71
            64-105              DC403891.1         73-114
            106-1918            BC101096.2         1-1813
            1919-3558           AC087651.19        63072-64711         c
FEATURES             Location/Qualifiers
     source          1..3558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3558
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /note="USH1 protein network component sans"
                     /db_xref="GeneID:124590"
                     /db_xref="HGNC:HGNC:16356"
                     /db_xref="MIM:607696"
     exon            1..346
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..1568
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /note="isoform 1 is encoded by transcript variant 1; usher
                     syndrome type-1G protein; scaffold protein containing
                     ankyrin repeats and SAM domain; Usher syndrome 1G
                     (autosomal recessive); pre-mRNA splicing regulator USH1G"
                     /codon_start=1
                     /product="pre-mRNA splicing regulator USH1G isoform 1"
                     /protein_id="NP_775748.2"
                     /db_xref="CCDS:CCDS32725.1"
                     /db_xref="GeneID:124590"
                     /db_xref="HGNC:HGNC:16356"
                     /db_xref="MIM:607696"
                     /translation="MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGN
                     LESLRLIVSRGGDPDKCDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPL
                     DMAAMKGHMECVRYLDSIAAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHER
                     MERRYRRELAERSDTLSFSSLTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQK
                     KLERRKQGGEGTFKVSEDGRKSARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMF
                     LSDEDSVSRATLAAEPAHSEVSTDSGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDG
                     GLDGVGAPRGRLQSSPSLDDDSLGSANSLQDRSCGEELPWDELDLGLDEDLEPETSPL
                     ETFLASLHMEDFAALLRQEKIDLEALMLCSDLDLRSISVPLGPRKKILGAVRRRRQAM
                     ERPPALEDTEL"
     exon            347..1564
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..3558
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3558
                     /gene="USH1G"
                     /gene_synonym="ANKS4A; SANS"
                     /note="major polyA site"
ORIGIN      
        1 agatgtcttg gtagtcgcgg ctctggcgct ccgcaccctc cgtctgcggc agcgggggct
       61 ggcggccccg gcccctgccc ggccccgtcc tccaacctca tgcctcagcc ctaataccgc
      121 cgccctcccc tgcggggggc ctttctccgt gtcccccgcc cgccccgtcc acttcgggcg
      181 ccatgaacga ccagtaccac cgggcagccc gggatggcta cctggagctc ctcaaggagg
      241 ccacccgaaa ggagctgaat gcccccgacg aggatggcat gacccccact ctctgggctg
      301 cctaccatgg caacctcgag tcgctgcgtc tcattgtgag ccgcgggggt gacccggaca
      361 agtgtgacat ctggggcaac acacccctgc atctggcagc ttccaatggc cacttgcact
      421 gcctgtcctt cctggtgtcc ttcggagcca acatctggtg cctagacaac gactaccaca
      481 cgccgctgga catggctgcc atgaagggcc acatggaatg cgtgcgctac ctggactcca
      541 tcgcggccaa gcagagcagc ctcaacccca agctggtggg taagctgaag gacaaggcct
      601 tccgcgaggc ggagcggcgc atccgcgagt gcgccaagct gcagcggagg caccacgaac
      661 gcatggagcg gcgataccgg cgcgagctgg ccgagcgttc cgacaccctc agcttctcca
      721 gcctcacgtc cagcaccctg agccgccggc tgcagcatct ggcgctgggc agccacctgc
      781 cgtactctca ggccacgctg cacggcacgg ccaggggcaa gaccaagatg cagaagaagc
      841 tggagcggcg caagcagggc ggcgaaggca ccttcaaggt ctccgaggat gggcgcaaga
      901 gcgcccgctc gctctcgggc ctgcagctgg gcagcgacgt gatgttcgtg cgccagggca
      961 cctacgccaa tcccaaggag tggggccgag ccccgctccg ggacatgttc ctctcggacg
     1021 aggacagcgt ctcccgtgcc acgctggcgg ccgagcctgc ccactcggag gtcagcaccg
     1081 actcaggcca cgactccctg tttacccgcc ccggcctggg caccatggtg ttccgcagaa
     1141 attacttgag cagtgggctg cacggactgg gccgcgagga tgggggtctg gatggggtgg
     1201 gagcgccgcg gggtcggctg cagagctccc ccagcctgga cgatgacagc ctgggcagtg
     1261 ccaacagcct gcaggaccgc agctgtgggg aggagctgcc ctgggatgag ctcgatttag
     1321 gcttggacga ggacctggag cccgagacta gcccgctgga gaccttcctg gcctctctgc
     1381 acatggagga ctttgccgcc ctcctgcggc aggagaagat cgacctcgag gctttgatgc
     1441 tgtgctctga cctcgacctc cgcagcatca gcgtcccact ggggccccga aagaagatct
     1501 tgggggccgt gaggaggcgg cggcaggcga tggagcgccc gccggccctg gaggacacag
     1561 agctataacc gggggctcct ctccccagac caaaatgaat tgcaagttgc cacaacctat
     1621 ggtggggtct cgaggtcctc acagttgcca gccctgcagc ccccttcccc aggagcaagg
     1681 accagttggg gcgactcctt tgaaagtctg tctgcacctt gaagctgagg gtgtggcctg
     1741 gaggcaccag aggggcaaga gaatgttccg gaactccagt tctgaggggt cttgaaggcc
     1801 ctgagccacc cattctgagc agccgtaaag gacatgtaga cttgggggag gcctgcccca
     1861 gagggagggc aggggcatcg gaactggatg agagtgtggg aggtggatgc gggagggtgc
     1921 acctgtcccg ggcgccgtgg cctctcccac ccctcccctg atggtcttgt tctcttgtgc
     1981 tcaggccaga gacttgctca cttcctgcat tgttgtgaag ggaagagttt gggctgcctc
     2041 ccctcctccc gtccacccca gaggggaagt tcctcagcca gactcttcag ccaaatgccc
     2101 caactttcag tctgtacccc atcccaagca tagccagctc cccctccttc acctagtggt
     2161 caaggcccgg agctggaaag ccgggttggg gtggggtggg ggtactgacg cccttcccag
     2221 ctcatccagg ggtggagcct ggcctgtctt cctccaacct cccccttttt cgttgtgcag
     2281 cctggccccc cagggacccc agagggccag ggcgctagat gcaaggtgct agaccaatgg
     2341 gctgcagtat tatagccccc aggcctggca ggcatgcgct gggctagaga aaggtgtccg
     2401 ccaacctcct cagtctccca ggcctgggac aggcagaaca gggtgtggct gggtgtcagg
     2461 cctggggtgg gtaagtcctg cgatgtggac actggagaaa gtggatcctc taaactgcag
     2521 attgtcccca ggtcaccagg gctgtgtgcg tgtgcatgtt tgtgtgcatg tatgcgtgtg
     2581 tgcatgcatg tgtgtgtaag tatgtggtat gtgtgagcac gggtgtgtgc ttgggtgtgt
     2641 gtgttcttgc atacatgtgt gcgtgtgtgt gcacgtgaac gcgtgcgtgt ttgtgtgtgt
     2701 gcatgcatgt gtgtgcatgt gtgtgtgtgc atgcatgtgt gtgtgtgtgc atgtgtgcgt
     2761 gtgtgcacac tcacgttggg tggtgtttgg taggtttccc tccaggtctg gtagggactg
     2821 ggctgttgcg tgattctgcg tggatcgggg gtaagagagc tcacctgtgt cccagccctc
     2881 tgatggtggt gagaccaggg gaaaggccag ctcagagggt ggtcacagca tgtgtcctct
     2941 gacgtatgcc cccaaagctc tccagccaga ctgaggtcac agatgtggga gagtccctga
     3001 tgagcccgct gacacgtgtg cgcccctttg caccccatgc agaggtgctc tcctcctttc
     3061 tcagccatgg ccccccatcc ctgacctcag cttgggaagc agctcctgct gggagcatgg
     3121 cctcagcccc cagcatctcc tggggccccc atggctgggg caggggaaag agagccctca
     3181 aaggcctctt tctggtctgt ctgggggttc ccattcccac acatgtgccc agagtagggg
     3241 gcatggagga gatggtccct gtcctactgc aggacactga gggcttggct gcctgccacc
     3301 gccatctgga gcccaccaca gctcttctcc ctgttctctg ggcctgagcc tggggccacc
     3361 cccaagtgcc gacttgtttc tcccagagcc ccaggtgctg ccccttctct cctgttcctc
     3421 gtccgtttac tgccgcagcc cctcctggtt cttctggtgc tggggtggag caggctctgt
     3481 gctcccacca ctgtaccccg aatccctcct gcaggctcat tgccactttt gtagagaatg
     3541 ttctctatca gtatcgta
//
