LOCUS       NM_024589               1418 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens rogdi atypical leucine zipper (ROGDI), transcript
            variant 1, mRNA.
ACCESSION   NM_024589
VERSION     NM_024589.3
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 1418)
  AUTHORS   Gowda,V.K., Bylappa,A.Y., Srinivasan,V.M., Manohar,V. and Pandey,H.
  TITLE     Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in
            an Indian family with a novel ROGD1 mutation
  JOURNAL   Clin Dysmorphol 32 (4), 168-171 (2023)
   PUBMED   37646740
  REMARK    GeneRIF: Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic
            syndrome) in an Indian family with a novel ROGD1 mutation.
REFERENCE   2  (bases 1 to 1418)
  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   3  (bases 1 to 1418)
  AUTHORS   Sugis,E., Dauvillier,J., Leontjeva,A., Adler,P., Hindie,V.,
            Moncion,T., Collura,V., Daudin,R., Loe-Mie,Y., Herault,Y.,
            Lambert,J.C., Hermjakob,H., Pupko,T., Rain,J.C., Xenarios,I.,
            Vilo,J., Simonneau,M. and Peterson,H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1418)
  AUTHORS   Lee,H., Jeong,H., Choe,J., Jun,Y., Lim,C. and Lee,C.
  TITLE     The crystal structure of human Rogdi provides insight into the
            causes of Kohlschutter-Tonz Syndrome
  JOURNAL   Sci Rep 7 (1), 3972 (2017)
   PUBMED   28638151
  REMARK    GeneRIF: Study provides structural insights into how certain
            mutations in Rogdi affect its structure and cause Kohlschutter-Tonz
            syndrome, which has important implications for the development of
            pharmaceutical agents against this debilitating neurological
            disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1418)
  AUTHORS   Huckert,M., Mecili,H., Laugel-Haushalter,V., Stoetzel,C.,
            Muller,J., Flori,E., Laugel,V., Maniere,M.C., Dollfus,H. and
            Bloch-Zupan,A.
  TITLE     A Novel Mutation in the ROGDI Gene in a Patient with
            Kohlschutter-Tonz Syndrome
  JOURNAL   Mol Syndromol 5 (6), 293-298 (2014)
   PUBMED   25565929
REFERENCE   6  (bases 1 to 1418)
  AUTHORS   Tucci,A., Kara,E., Schossig,A., Wolf,N.I., Plagnol,V., Fawcett,K.,
            Paisan-Ruiz,C., Moore,M., Hernandez,D., Musumeci,S., Tennison,M.,
            Hennekam,R., Palmeri,S., Malandrini,A., Raskin,S., Donnai,D.,
            Hennig,C., Tzschach,A., Hordijk,R., Bast,T., Wimmer,K., Lo,C.N.,
            Shorvon,S., Mefford,H., Eichler,E.E., Hall,R., Hayes,I., Hardy,J.,
            Singleton,A., Zschocke,J. and Houlden,H.
  TITLE     Kohlschutter-Tonz syndrome: mutations in ROGDI and evidence of
            genetic heterogeneity
  JOURNAL   Hum Mutat 34 (2), 296-300 (2013)
   PUBMED   23086778
  REMARK    GeneRIF: We identify novel compound heterozygous ROGDI mutations in
            five typical Kohlschutter-Tonz syndrome families. Other families
            were negative for ROGDI mutations, suggesting genetic heterogeneity
            of atypical forms of the disease.
REFERENCE   7  (bases 1 to 1418)
  AUTHORS   Mory,A., Dagan,E., Illi,B., Duquesnoy,P., Mordechai,S., Shahor,I.,
            Romani,S., Hawash-Moustafa,N., Mandel,H., Valente,E.M., Amselem,S.
            and Gershoni-Baruch,R.
  TITLE     A nonsense mutation in the human homolog of Drosophila rogdi causes
            Kohlschutter-Tonz syndrome
  JOURNAL   Am J Hum Genet 90 (4), 708-714 (2012)
   PUBMED   22482807
  REMARK    GeneRIF: Homozygosity mapping localized the gene linked to
            Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score
            of 6.4) in chromosomal region 16p13.3. The nonsense mutation was
            homozygous in all affected individuals.
REFERENCE   8  (bases 1 to 1418)
  AUTHORS   Schossig,A., Wolf,N.I., Fischer,C., Fischer,M., Stocker,G.,
            Pabinger,S., Dander,A., Steiner,B., Tonz,O., Kotzot,D.,
            Haberlandt,E., Amberger,A., Burwinkel,B., Wimmer,K., Fauth,C.,
            Grond-Ginsbach,C., Koch,M.J., Deichmann,A., von Kalle,C.,
            Bartram,C.R., Kohlschutter,A., Trajanoski,Z. and Zschocke,J.
  TITLE     Mutations in ROGDI Cause Kohlschutter-Tonz Syndrome
  JOURNAL   Am J Hum Genet 90 (4), 701-707 (2012)
   PUBMED   22424600
  REMARK    GeneRIF: The finding that ROGDI mutations cause Kohlschutter-Tonz
            Syndrome indicates that the protein product of this gene plays an
            important role in neuronal development as well as amelogenesis.
REFERENCE   9  (bases 1 to 1418)
  AUTHORS   Camargo,L.M., Collura,V., Rain,J.C., Mizuguchi,K., Hermjakob,H.,
            Kerrien,S., Bonnert,T.P., Whiting,P.J. and Brandon,N.J.
  TITLE     Disrupted in Schizophrenia 1 Interactome: evidence for the close
            connectivity of risk genes and a potential synaptic basis for
            schizophrenia
  JOURNAL   Mol Psychiatry 12 (1), 74-86 (2007)
   PUBMED   17043677
REFERENCE   10 (bases 1 to 1418)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020663.1, BC012901.2 and
            AA740842.1.
            
            On Dec 4, 2019 this sequence version replaced NM_024589.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            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 :: AK026039.1, AL136675.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322048.12/ ENSP00000322832.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC020663.1         95380-95394         c
            16-475              BC012901.2         1-460
            476-476             AC020663.1         92465-92465         c
            477-1069            BC012901.2         462-1054
            1070-1250           AC020663.1         89897-90077         c
            1251-1418           AA740842.1         61-228              c
FEATURES             Location/Qualifiers
     source          1..1418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1418
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /note="rogdi atypical leucine zipper"
                     /db_xref="GeneID:79641"
                     /db_xref="HGNC:HGNC:29478"
                     /db_xref="MIM:614574"
     exon            1..107
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..926
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /note="leucine zipper domain protein; rogdi homolog"
                     /codon_start=1
                     /product="protein rogdi homolog"
                     /protein_id="NP_078865.1"
                     /db_xref="CCDS:CCDS10523.1"
                     /db_xref="GeneID:79641"
                     /db_xref="HGNC:HGNC:29478"
                     /db_xref="MIM:614574"
                     /translation="MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLR
                     FTLPGSGTEGPAKQENFILGSCGTDQVKGVLTLQGDALSQADVNLKMPRNNQLLHFAF
                     REDKQWKLQQIQDARNHVSQAIYLLTSRDQSYQFKTGAEVLKLMDAVMLQLTRARNRL
                     TTPATLTLPEIAASGLTRMFAPALPSDLLVNVYINLNKLCLTVYQLHALQPNSTKNFR
                     PAGGAVLHSPGAMFEWGSQRLEVSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKIS
                     VFSSYWSYRPF"
     exon            108..179
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            180..262
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            263..317
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            318..398
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            399..494
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            495..593
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            594..707
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            708..757
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            758..884
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1418
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1398..1403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /note="hexamer: AATAAA"
     polyA_site      1418
                     /gene="ROGDI"
                     /gene_synonym="KTZS; RAV2; ROGD1"
                     /note="major polyA site"
ORIGIN      
        1 agaaagattg gtggacagga gcagcggccg gtggggaggg cgctcggcgg cggcctgcgg
       61 ccatggccac cgtgatggca gcgacggcgg cggagcgggc ggtgctggag gaggagttcc
      121 gctggctgct gcacgacgag gtgcacgctg tgttgaagca gctgcaggac atcctcaagg
      181 aggcctctct gcgcttcact ctgccgggct ccggcactga ggggcccgcc aagcaagaga
      241 acttcatcct aggcagctgt ggcacagacc aggtgaaggg tgtgctgact ctgcaggggg
      301 atgccctcag ccaggcggat gtgaacctga agatgccccg gaacaaccag ctgctgcact
      361 tcgccttccg ggaggacaag cagtggaagc tgcagcagat ccaggatgcc agaaaccatg
      421 tgagccaagc catttacctg cttaccagcc gggaccagag ctaccagttc aagacgggcg
      481 ctgaggtcct caagctgatg gacgcagtga tgctgcagct gaccagagcc cgaaaccggc
      541 tcaccacccc cgccaccctc accctccccg agatcgccgc cagcggcctc acgcggatgt
      601 tcgcccctgc cctgccgtcc gacctgctgg tcaacgtcta catcaacctc aacaagctct
      661 gcctcacggt gtaccagctg catgccctgc agcccaactc caccaagaac ttccgcccag
      721 ctgggggcgc ggtgctgcat agccctgggg ccatgttcga gtggggctct cagcgcctgg
      781 aggtgagcca cgtgcacaaa gtggagtgcg tgatcccctg gctcaacgac gccctggtct
      841 acttcaccgt ctccctgcag ctctgccagc agctcaagga caagatctcc gtgttctcca
      901 gctactggag ctacagaccc ttctgatcac agcacccagg agcttgtctc caggaaggcg
      961 gccccgtccc ctactcatac ccaccacaga gcaccagcca gtgccaacgc caggctgcta
     1021 tttatctccc tatcccaccc cctaccccac ctaacacatt tgcactgccg ggaatggaca
     1081 ctggaagtgc caggaggaag gaaggctggt ttggtggggt agtggggagg tcagggaggc
     1141 ggggccaagg gtgtcccaca ttcccaacac cgccctctga tcaccatggg aatctttgga
     1201 ctcaggacag ggccaggcgc agggctctcc ctcctctccc cttcgctgtc ccctccccct
     1261 ggagggcatg gtgtcggggg gtggcactga gctatgagtc ccggggatgg tgaggaacgc
     1321 cacagacaga gccaccctag gagtgagtat agtgctggtg actgtgtttc atagccccag
     1381 tccagggctg tctaagaaat aaagatcatc agactcca
//
