LOCUS       NM_032122               1383 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript
            variant 1, mRNA.
ACCESSION   NM_032122
VERSION     NM_032122.5
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 1383)
  AUTHORS   Geraci,F., Passiatore,R., Penzel,N., Laudani,S., Bertolino,A.,
            Blasi,G., Graziano,A.C.E., Kikidis,G.C., Mazza,C., Parihar,M.,
            Rampino,A., Sportelli,L., Trevisan,N., Drago,F., Papaleo,F.,
            Sambataro,F., Pergola,G. and Leggio,G.M.
  TITLE     Sex dimorphism controls dysbindin-related cognitive dysfunctions in
            mice and humans with the contribution of COMT
  JOURNAL   Mol Psychiatry 29 (9), 2666-2677 (2024)
   PUBMED   38532008
  REMARK    GeneRIF: Sex dimorphism controls dysbindin-related cognitive
            dysfunctions in mice and humans with the contribution of COMT.
REFERENCE   2  (bases 1 to 1383)
  AUTHORS   Rodrigues,R., Quental,R., Santos Silva,R., Costa,L. and
            Estrela-Silva,S.
  TITLE     Unraveling Hermansky-Pudlak syndrome type 7: a case report and
            comprehensive literature review on the identification of DTNBP1
            variants
  JOURNAL   Ophthalmic Genet 45 (3), 262-266 (2024)
   PUBMED   38097925
  REMARK    GeneRIF: Unraveling Hermansky-Pudlak syndrome type 7: a case report
            and comprehensive literature review on the identification of DTNBP1
            variants.
            Review article
REFERENCE   3  (bases 1 to 1383)
  AUTHORS   Manago,F., Scheggia,D., Pontillo,M., Mereu,M., Mastrogiacomo,R.,
            Udayan,G., Valentini,P., Tata,M.C., Weinberger,D.R., Weickert,C.S.,
            Pompa,P.P., De Luca,M.A., Vicari,S. and Papaleo,F.
  TITLE     Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1
            genetic interaction and their clinical relevance
  JOURNAL   Br J Pharmacol 180 (19), 2514-2531 (2023)
   PUBMED   37218669
  REMARK    GeneRIF: Dopaminergic signalling and behavioural alterations by
            Comt-Dtnbp1 genetic interaction and their clinical relevance.
REFERENCE   4  (bases 1 to 1383)
  AUTHORS   Bhattad,S., Libre,M., Choi,J.M., Mohite,R.S., Singh,N. and
            Markle,J.G.
  TITLE     Hermansky-Pudlak syndrome with early onset inflammatory bowel
            disease due to loss of dysbindin expression
  JOURNAL   Eur J Med Genet 66 (7), 104786 (2023)
   PUBMED   37172778
  REMARK    GeneRIF: Hermansky-Pudlak syndrome with early onset inflammatory
            bowel disease due to loss of dysbindin expression.
REFERENCE   5  (bases 1 to 1383)
  AUTHORS   Pavesic Radonja,A., Blazevic Zelic,S., Rubesa,G. and Bradshaw,N.J.
  TITLE     SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1
            AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED
            FOLLOW UP STUDY
  JOURNAL   Psychiatr Danub 35 (2), 180-186 (2023)
   PUBMED   37480305
  REMARK    GeneRIF: SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3,
            DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A
            PANSS-BASED FOLLOW UP STUDY.
REFERENCE   6  (bases 1 to 1383)
  AUTHORS   Straub,R.E., Jiang,Y., MacLean,C.J., Ma,Y., Webb,B.T.,
            Myakishev,M.V., Harris-Kerr,C., Wormley,B., Sadek,H., Kadambi,B.,
            Cesare,A.J., Gibberman,A., Wang,X., O'Neill,F.A., Walsh,D. and
            Kendler,K.S.
  TITLE     Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of
            the mouse dysbindin gene, is associated with schizophrenia
  JOURNAL   Am J Hum Genet 71 (2), 337-348 (2002)
   PUBMED   12098102
  REMARK    GeneRIF: single-nucleotide polymorphisms within the gene DTNBP1
            (dystrobrevin-binding protein 1, or dysbindin) are strongly
            associated with schizophrenia
            Erratum:[Am J Hum Genet 2002 Oct;72(4):1007]
REFERENCE   7  (bases 1 to 1383)
  AUTHORS   Benson,M.A., Newey,S.E., Martin-Rendon,E., Hawkes,R. and Blake,D.J.
  TITLE     Dysbindin, a novel coiled-coil-containing protein that interacts
            with the dystrobrevins in muscle and brain
  JOURNAL   J Biol Chem 276 (26), 24232-24241 (2001)
   PUBMED   11316798
  REMARK    GeneRIF: In mouse, dysbindin binds to alpha- and beta-dystrobrevin
            in muscle and brain.
REFERENCE   8  (bases 1 to 1383)
  AUTHORS   Kirchhausen,T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (bases 1 to 1383)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (bases 1 to 1383)
  AUTHORS   Introne,W.J., Huizing,M., Malicdan,M.C.V., O'Brien,K.J. and
            Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX394617.2 and AF394226.1.
            
            On Dec 4, 2019 this sequence version replaced NM_032122.4.
            
            Summary: This gene encodes a protein that may play a role in
            organelle biogenesis associated with melanosomes, platelet dense
            granules, and lysosomes. A similar protein in mouse is a component
            of a protein complex termed biogenesis of lysosome-related
            organelles complex 1 (BLOC-1), and binds to alpha- and
            beta-dystrobrevins, which are components of the
            dystrophin-associated protein complex (DPC). Mutations in this gene
            are associated with Hermansky-Pudlak syndrome type 7. This gene may
            also be associated with schizophrenia. Multiple transcript variants
            encoding distinct isoforms have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). This protein isoform is described by Talbot et al.
            (PMID:21390302).
            
            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 :: AY265460.1, BC011912.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2150385
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344537.10/ ENSP00000341680.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                BX394617.2         31-87
            58-1383             AF394226.1         5-1330
FEATURES             Location/Qualifiers
     source          1..1383
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..1383
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /note="dystrobrevin binding protein 1"
                     /db_xref="GeneID:84062"
                     /db_xref="HGNC:HGNC:17328"
                     /db_xref="MIM:607145"
     exon            1..215
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..1215
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /note="isoform a is encoded by transcript variant 1;
                     dysbindin-1; biogenesis of lysosomal organelles complex-1,
                     subunit 8; Hermansky-Pudlak syndrome 7 protein; BLOC-1
                     subunit 8; biogenesis of lysosome-related organelles
                     complex 1 subunit 8"
                     /codon_start=1
                     /product="dysbindin isoform a"
                     /protein_id="NP_115498.2"
                     /db_xref="CCDS:CCDS4534.1"
                     /db_xref="GeneID:84062"
                     /db_xref="HGNC:HGNC:17328"
                     /db_xref="MIM:607145"
                     /translation="MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPK
                     YSAGLELLSRYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQ
                     QLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKK
                     NKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQI
                     AERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESST
                     CQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALAT
                     SHTDREATPDGGEDSDS"
     exon            216..269
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            270..320
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            321..381
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            382..514
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            515..647
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            648..670
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            671..826
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            827..970
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1383
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1362..1367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /note="hexamer: AATAAA"
     polyA_site      1383
                     /gene="DTNBP1"
                     /gene_synonym="BLOC1S8; DBND; HPS7; My031; SDY"
                     /note="major polyA site"
ORIGIN      
        1 ggggttgcgg cgcggcggcg aggaccagac cgggggcggg gccggtagtg ggagtgcggg
       61 gcgcgcggtg acagcgcggg gttggcggcg tgggacccag ggggcgacag aggcagcagc
      121 agcccgaggc ctgaggagag gagaccggcg gcggcggcaa tgctggagac ccttcgcgag
      181 cggctgctga gcgtgcagca ggatttcacc tccgggctga agactttaag tgacaagtca
      241 agagaagcaa aagtgaaaag caaacccagg actgttccat ttttgccaaa gtactctgct
      301 ggattagaat tacttagcag gtatgaggat acatgggctg cacttcacag aagagccaaa
      361 gactgtgcaa gtgctggaga gctggtggat agcgaggtgg tcatgctttc tgcgcactgg
      421 gagaagaaaa agacaagcct cgtggagctg caagagcagc tccagcagct cccagcttta
      481 atcgcagact tagaatccat gacagcaaat ctgactcatt tagaggcgag ttttgaggag
      541 gtagagaaca acctgctgca tctggaagac ttatgtgggc agtgtgaatt agaaagatgc
      601 aaacatatgc agtcccagca actggagaat tacaagaaaa ataagaggaa ggaacttgaa
      661 accttcaaag ctgaactaga tgcagagcac gcccagaagg tcctggaaat ggagcacacc
      721 cagcaaatga agctgaagga gcggcagaag ttttttgagg aagccttcca gcaggacatg
      781 gagcagtacc tgtccactgg ctacctgcag attgcagagc ggcgagagcc cataggcagc
      841 atgtcatcca tggaagtgaa cgtggacatg ctggagcaga tggacctgat ggacatatcg
      901 gaccaggagg ccctggacgt cttcctgaac tctggaggag aagagaacac tgtgctgtcc
      961 cccgccttag ggcctgaatc cagtacctgt cagaatgaga ttaccctcca ggttccaaat
     1021 ccctcagaat taagagccaa gccaccttct tcttcctcca cctgcaccga ctcggccacc
     1081 cgggacatca gtgagggtgg ggagtccccc gttgttcagt ccgatgagga ggaagttcag
     1141 gtggacactg ccctggccac atcacacact gacagagagg ccactccgga tggtggtgag
     1201 gacagcgact cttaaattgg gacatgggcg ttgtctggcc acactggaat ccagttttgg
     1261 ctgtatgcgg aattccacct ggaaagccag gttgttttat agaggttctt gatttttaca
     1321 taattgccaa taatgtgtga gaaacttaaa gaacagctaa caataaagtg tgaggacggt
     1381 aaa
//
