LOCUS       NM_020659               2056 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tweety family member 1 (TTYH1), transcript variant 1,
            mRNA.
ACCESSION   NM_020659
VERSION     NM_020659.4
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 2056)
  AUTHORS   Leung,H.H., Mansour,C., Rousseau,M., Nakhla,A., Kiselyov,K.,
            Venkatachalam,K. and Wong,C.O.
  TITLE     Drosophila tweety facilitates autophagy to regulate mitochondrial
            homeostasis and bioenergetics in Glia
  JOURNAL   Glia 72 (2), 433-451 (2024)
   PUBMED   37870193
  REMARK    GeneRIF: Drosophila tweety facilitates autophagy to regulate
            mitochondrial homeostasis and bioenergetics in Glia.
REFERENCE   2  (bases 1 to 2056)
  AUTHORS   Sukalskaia,A., Straub,M.S., Deneka,D., Sawicka,M. and Dutzler,R.
  TITLE     Cryo-EM structures of the TTYH family reveal a novel architecture
            for lipid interactions
  JOURNAL   Nat Commun 12 (1), 4893 (2021)
   PUBMED   34385445
  REMARK    GeneRIF: Cryo-EM structures of the TTYH family reveal a novel
            architecture for lipid interactions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2056)
  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 2056)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2056)
  AUTHORS   Jung,E., Osswald,M., Blaes,J., Wiestler,B., Sahm,F., Schmenger,T.,
            Solecki,G., Deumelandt,K., Kurz,F.T., Xie,R., Weil,S., Heil,O.,
            Thome,C., Gommel,M., Syed,M., Haring,P., Huber,P.E., Heiland,S.,
            Platten,M., von Deimling,A., Wick,W. and Winkler,F.
  TITLE     Tweety-Homolog 1 Drives Brain Colonization of Gliomas
  JOURNAL   J Neurosci 37 (29), 6837-6850 (2017)
   PUBMED   28607172
  REMARK    GeneRIF: In this report, we identify tweety-homolog 1 (Ttyh1), a
            membrane protein linked to neuronal development, as a potent driver
            of tumor microtube (TM)-mediated brain colonization by glioma
            cells.
REFERENCE   6  (bases 1 to 2056)
  AUTHORS   Evans,D.M., Zhu,G., Dy,V., Heath,A.C., Madden,P.A., Kemp,J.P.,
            McMahon,G., St Pourcain,B., Timpson,N.J., Golding,J., Lawlor,D.A.,
            Steer,C., Montgomery,G.W., Martin,N.G., Smith,G.D. and
            Whitfield,J.B.
  TITLE     Genome-wide association study identifies loci affecting blood
            copper, selenium and zinc
  JOURNAL   Hum Mol Genet 22 (19), 3998-4006 (2013)
   PUBMED   23720494
REFERENCE   7  (bases 1 to 2056)
  AUTHORS   He,Y., Hryciw,D.H., Carroll,M.L., Myers,S.A., Whitbread,A.K.,
            Kumar,S., Poronnik,P. and Hooper,J.D.
  TITLE     The ubiquitin-protein ligase Nedd4-2 differentially interacts with
            and regulates members of the Tweety family of chloride ion channels
  JOURNAL   J Biol Chem 283 (35), 24000-24010 (2008)
   PUBMED   18577513
  REMARK    GeneRIF: Nedd4-2 differentially interacts with and regulates
            TTYH1-3
REFERENCE   8  (bases 1 to 2056)
  AUTHORS   Suzuki,M.
  TITLE     The Drosophila tweety family: molecular candidates for
            large-conductance Ca2+-activated Cl- channels
  JOURNAL   Exp Physiol 91 (1), 141-147 (2006)
   PUBMED   16219661
  REMARK    Review article
REFERENCE   9  (bases 1 to 2056)
  AUTHORS   Suzuki,M. and Mizuno,A.
  TITLE     A novel human Cl(-) channel family related to Drosophila flightless
            locus
  JOURNAL   J Biol Chem 279 (21), 22461-22468 (2004)
   PUBMED   15010458
REFERENCE   10 (bases 1 to 2056)
  AUTHORS   Campbell,H.D., Kamei,M., Claudianos,C., Woollatt,E.,
            Sutherland,G.R., Suzuki,Y., Hida,M., Sugano,S. and Young,I.G.
  TITLE     Human and mouse homologues of the Drosophila melanogaster tweety
            (tty) gene: a novel gene family encoding predicted transmembrane
            proteins
  JOURNAL   Genomics 68 (1), 89-92 (2000)
   PUBMED   10950931
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB188496.1, AF177909.1,
            BU737336.1 and AC245884.3.
            
            On May 17, 2019 this sequence version replaced NM_020659.3.
            
            Summary: This gene encodes a member of the tweety family of
            proteins. Members of this family function as chloride anion
            channels. The encoded protein functions as a
            calcium(2+)-independent, volume-sensitive large conductance
            chloride(-) channel. Three transcript variants encoding distinct
            isoforms have been identified for this gene. [provided by RefSeq,
            Jan 2011].
            
            Transcript Variant: This variant (1) contains an alternate exon
            compared to variant 2, that causes a frameshift. The resulting
            isoform (1) has a shorter and distinct C-terminus compared to
            isoform 2.
            
            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 :: SRR7410570.659303.1,
                                           SRR3476690.32643.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376530.8/ ENSP00000365713.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               AB188496.1         34-176
            144-1749            AF177909.1         91-1696
            1750-1871           BU737336.1         18-139              c
            1872-2056           AC245884.3         154256-154440
FEATURES             Location/Qualifiers
     source          1..2056
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2056
                     /gene="TTYH1"
                     /note="tweety family member 1"
                     /db_xref="GeneID:57348"
                     /db_xref="HGNC:HGNC:13476"
                     /db_xref="MIM:605784"
     exon            1..215
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1442
                     /gene="TTYH1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein tweety homolog 1; hTTY1; volume-regulated anion
                     channel subunit TTYH1"
                     /codon_start=1
                     /product="protein tweety homolog 1 isoform 1"
                     /protein_id="NP_065710.1"
                     /db_xref="CCDS:CCDS12893.1"
                     /db_xref="GeneID:57348"
                     /db_xref="HGNC:HGNC:13476"
                     /db_xref="MIM:605784"
                     /translation="MGAPPGYRPSAWVHLLHQLPRADFQLRPVPSVFAPQEQEYQQAL
                     LLVAALAGLGLGLSLIFIAVYLIRFCCCRPPEPPGSKIPSPGGGCVTWSCIVALLAGC
                     TGIGIGFYGNSETSDGVSQLSSALLHANHTLSTIDHLVLETVERLGEAVRTELTTLEE
                     VLEPRTELVAAARGARRQAEAAAQQLQGLAFWQGVPLSPLQVAENVSFVEEYRWLAYV
                     LLLLLELLVCLFTLLGLAKQSKWLVIVMTVMSLLVLVLSWGSMGLEAATAVGLSDFCS
                     NPDPYVLNLTQEETGLSSDILSYYLLCNRAVSNPFQQRLTLSQRALANIHSQLLGLER
                     EAVPQFPSAQKPLLSLEETLNVTEGNFHQLVALLHCRSLHKDYGAALRGLCEDALEGL
                     LFLLLFSLLSAGALATALCSLPRAWALFPPSDDYDDTDDDDPFNPQESKRFVQWQSSI
                     "
     exon            216..394
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            395..506
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            507..727
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            728..823
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            824..896
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            897..972
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1028
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1121
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1214
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1357
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1403
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1484
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..2056
                     /gene="TTYH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1844..1849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTYH1"
                     /note="hexamer: AATAAA"
     polyA_site      1871
                     /gene="TTYH1"
                     /note="major polyA site"
     polyA_site      2056
                     /gene="TTYH1"
ORIGIN      
        1 agccagaccc cgcgccgccc gcgccccgct cgactccgga ggctcccgca gccccggcgt
       61 ccgccccgct gccccctccc ccgggggcca tgggggcgcc cccgggctac cggccctcag
      121 cttgggtgca tctcctccac cagctgcccc gcgccgactt ccagctccgc ccggtgccca
      181 gcgttttcgc gccccaagag caggaatacc agcaggcctt gttgctggtg gcggccttgg
      241 cgggcctggg cttgggcctg agcctcattt tcatcgctgt ctacctcatc cgcttctgct
      301 gctgccggcc ccccgagccc cccgggtcca agatcccctc gcccggggga ggctgcgtca
      361 cctggagctg cattgtcgcc cttctcgccg gctgcactgg cattggcatc ggtttctatg
      421 gcaacagtga gaccagtgat ggggtgtccc agctcagctc tgcgctgctg cacgccaacc
      481 acacactcag caccattgac cacctggtgt tggagacggt ggagaggctg ggcgaggcgg
      541 tgaggacaga gctgaccacc ctggaggagg tgctcgagcc gcgcacggag ctggtggctg
      601 ccgcccgagg ggctcgacgg caggcggagg ctgcggccca gcagctgcag gggctggcct
      661 tctggcaggg agtgcccctg agccccctgc aggtggctga aaatgtgtcc tttgtggagg
      721 agtacaggtg gctggcctac gtcctcctgc tgctcctgga gctgctggtc tgcctcttca
      781 ccctcctggg cctggcgaag cagagcaagt ggctggtgat cgtgatgaca gtcatgagtc
      841 tcctggttct cgtcctgagc tggggctcca tgggcctgga ggcagccacg gccgtgggcc
      901 tcagtgactt ctgctccaat ccagaccctt atgttctgaa cctgacccag gaggagacag
      961 ggctcagctc agacatcctg agctattatc tcctctgcaa ccgggccgtc tccaacccct
     1021 tccaacagag gctgactctg tcccagcgag ctctggccaa catccactcc cagctgctgg
     1081 gcctggagcg agaagctgtg cctcagttcc cttcagcgca gaagcctctg ctgtccttgg
     1141 aggagactct gaatgtgaca gaaggaaatt tccaccagtt ggtggcactg ctacactgcc
     1201 gcagcctgca caaggactat ggtgcagccc tgcggggcct gtgcgaagac gccctggaag
     1261 gcctgctctt cctgctactc ttctccctgc tgtctgcagg agcgctggcc actgccctct
     1321 gcagcctgcc ccgagcctgg gccctcttcc cacccagtga cgactacgat gacacagacg
     1381 atgacgaccc tttcaaccct caggaatcca agcgctttgt gcagtggcag tcgtctatct
     1441 gagcccctcc tcccggctgg actggagcct ggctcccctc ttcgttcctt ccctggctgc
     1501 cggaggagac cccactaacc cagcctgcct gggctctgac cactaacact cttggccatg
     1561 gacagcctgc acaggaccgc ctccctgctc ttggccactg tgctcccatt tctgtccttg
     1621 gccttgggag tagctgaggg ggcagactag ggagtagggc tggcagggga gggggcagac
     1681 agcctcgcct cgcacccttc atccctggct gccggtccca tccttggagg gactaagctg
     1741 ggggtggggg acatgagtcc ccctgctgcc cctgccacat cccagtgggc tctgaccccc
     1801 tgatctcaac tcgtggcact aacttggaaa agggttgatt taaaataaaa gggaagacta
     1861 ttttacaagc agctgggtcc tccttatttc tcctctccct tgattcggcc tcctggccag
     1921 ggctgggaca tcctccctgc tgtcctctct cccccggcct cccagctgcc aggaatttct
     1981 gcgcctgtcc aggctcagca aggggtccaa agacattgtt ctttaaaaaa aaaaaaaaaa
     2041 aaatcaaaaa acaaaa
//
