LOCUS       NM_133724               1306 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus biogenesis of lysosomal organelles complex-1, subunit
            4, cappuccino (Bloc1s4), mRNA.
ACCESSION   NM_133724
VERSION     NM_133724.3
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 1306)
  AUTHORS   Larimore,J., Tornieri,K., Ryder,P.V., Gokhale,A., Zlatic,S.A.,
            Craige,B., Lee,J.D., Talbot,K., Pare,J.F., Smith,Y. and Faundez,V.
  TITLE     The schizophrenia susceptibility factor dysbindin and its
            associated complex sort cargoes from cell bodies to the synapse
  JOURNAL   Mol Biol Cell 22 (24), 4854-4867 (2011)
   PUBMED   21998198
REFERENCE   2  (bases 1 to 1306)
  AUTHORS   Ghiani,C.A., Starcevic,M., Rodriguez-Fernandez,I.A., Nazarian,R.,
            Cheli,V.T., Chan,L.N., Malvar,J.S., de Vellis,J., Sabatti,C. and
            Dell'Angelica,E.C.
  TITLE     The dysbindin-containing complex (BLOC-1) in brain: developmental
            regulation, interaction with SNARE proteins and role in neurite
            outgrowth
  JOURNAL   Mol Psychiatry 15 (2), 115 (2010)
   PUBMED   19546860
REFERENCE   3  (bases 1 to 1306)
  AUTHORS   Newell-Litwa,K., Chintala,S., Jenkins,S., Pare,J.F., McGaha,L.,
            Smith,Y. and Faundez,V.
  TITLE     Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially
            regulate presynaptic composition in the striatum and hippocampus
  JOURNAL   J Neurosci 30 (3), 820-831 (2010)
   PUBMED   20089890
REFERENCE   4  (bases 1 to 1306)
  AUTHORS   Yoshida,M., Saiga,K., Hato,T., Iwaki,S., Niiya,T., Arita,N.,
            Komori,H., Tsubaki,T., Furukawa,H., Terada,M., Maeyama,K.,
            Nemoto,K., Nose,M. and Ono,M.
  TITLE     Cappuccino mutation in an autoimmune-prone strain of mice suggests
            a role of platelet function in the progression of immune complex
            crescentic glomerulonephritis
  JOURNAL   Arthritis Rheum 54 (9), 2934-2943 (2006)
   PUBMED   16948132
  REMARK    GeneRIF: Genetic analysis revealed a deleterious mutation in the
            cappuccino gene (cno), which is profoundly involved in platelet
            function in the progression of immune complex crescentic
            glomerulonephritis.
REFERENCE   5  (bases 1 to 1306)
  AUTHORS   Gwynn,B., Martina,J.A., Bonifacino,J.S., Sviderskaya,E.V.,
            Lamoreux,M.L., Bennett,D.C., Moriyama,K., Huizing,M.,
            Helip-Wooley,A., Gahl,W.A., Webb,L.S., Lambert,A.J. and Peters,L.L.
  TITLE     Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak
            syndrome, encodes a novel component of the BLOC-1 complex
  JOURNAL   Blood 104 (10), 3181-3189 (2004)
   PUBMED   15265785
REFERENCE   6  (bases 1 to 1306)
  AUTHORS   Starcevic,M. and Dell'Angelica,E.C.
  TITLE     Identification of snapin and three novel proteins (BLOS1, BLOS2,
            and BLOS3/reduced pigmentation) as subunits of biogenesis of
            lysosome-related organelles complex-1 (BLOC-1)
  JOURNAL   J Biol Chem 279 (27), 28393-28401 (2004)
   PUBMED   15102850
REFERENCE   7  (bases 1 to 1306)
  AUTHORS   Ciciotte,S.L., Gwynn,B., Moriyama,K., Huizing,M., Gahl,W.A.,
            Bonifacino,J.S. and Peters,L.L.
  TITLE     Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a
            novel protein that is part of the pallidin-muted complex (BLOC-1)
  JOURNAL   Blood 101 (11), 4402-4407 (2003)
   PUBMED   12576321
  REMARK    GeneRIF: coassembles with pallidin and the muted protein in the
            BLOC-1 complex
REFERENCE   8  (bases 1 to 1306)
  AUTHORS   Nguyen,T., Novak,E.K., Kermani,M., Fluhr,J., Peters,L.L.,
            Swank,R.T. and Wei,M.L.
  TITLE     Melanosome morphologies in murine models of hermansky-pudlak
            syndrome reflect blocks in organelle development
  JOURNAL   J Invest Dermatol 119 (5), 1156-1164 (2002)
   PUBMED   12445206
REFERENCE   9  (bases 1 to 1306)
  AUTHORS   Hurle,B., Lane,K., Kenney,J., Tarantino,L.M., Bucan,M.,
            Brownstein,B.H. and Ornitz,D.M.
  TITLE     Physical mapping of the mouse tilted locus identifies an
            association between human deafness loci DFNA6/14 and vestibular
            system development
  JOURNAL   Genomics 77 (3), 189-199 (2001)
   PUBMED   11597144
REFERENCE   10 (bases 1 to 1306)
  AUTHORS   Gwynn,B., Ciciotte,S.L., Hunter,S.J., Washburn,L.L., Smith,R.S.,
            Andersen,S.G., Swank,R.T., Dell'Angelica,E.C., Bonifacino,J.S.,
            Eicher,E.M. and Peters,L.L.
  TITLE     Defects in the cappuccino (cno) gene on mouse chromosome 5 and
            human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent
            mechanism
  JOURNAL   Blood 96 (13), 4227-4235 (2000)
   PUBMED   11110696
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CK129009.1, AK011795.1 and AV291459.1.
            
            On Feb 16, 2007 this sequence version replaced NM_133724.2.
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-180               CK129009.1         1-180
            181-1302            AK011795.1         153-1274
            1303-1306           AV291459.1         235-238
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 19.24 cM"
     gene            1..1306
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 4, cappuccino"
                     /db_xref="GeneID:117197"
                     /db_xref="MGI:MGI:1929230"
     exon            1..1306
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..682
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /note="cappuccino; BLOC-1 subunit 4; protein cappuccino
                     homolog; biogenesis of organelles complex-1, subunit 4,
                     cappuccino"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 4"
                     /protein_id="NP_598485.1"
                     /db_xref="CCDS:CCDS19241.1"
                     /db_xref="GeneID:117197"
                     /db_xref="MGI:MGI:1929230"
                     /translation="MEEGPAVGTLSREVSTEEAEPLGAAWSGDSGHVSQSHSSASGPW
                     DDDGPEDAPGRDLPLLRRAASGYASSLLPSAGPRPEVEALDASLEELLAKVDEFVGML
                     DMIRGDSSHVVGEGVPRIHAKAAEMRRIYGRIDKLEAFVRMIGSSVARMEEQVAKAEA
                     ELGTFPRAFRRLLHTISVPALFRSAPSGPQRAAYEPPVLFRTEDHFPGCGDRPQL"
     regulatory      1016..1021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /note="hexamer: ATTAAA"
     polyA_site      1041
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /note="major polyA site"
     regulatory      1279..1284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
                     /note="hexamer: ATTAAA"
     polyA_site      1303
                     /gene="Bloc1s4"
                     /gene_synonym="2610101N07Rik; Blos4; Cno"
ORIGIN      
        1 caatcgctca gcaccggaag cggccgagcg ggccatggag gaaggacccg ccgtcggaac
       61 cctgtctcga gaggtctcta ccgaggaggc cgagccgttg ggcgccgcgt ggagcgggga
      121 cagcggccac gtctcgcaga gccacagcag cgcgtccggg ccgtgggacg atgacggccc
      181 cgaggacgcg ccgggccgcg acctgccgct gctgcgccgc gccgcctcgg gctacgcctc
      241 cagcctgctg cccagcgcgg gaccgaggcc agaggtggag gcgctggacg ccagcctgga
      301 ggagctgctg gccaaggtgg acgagttcgt gggcatgctg gacatgatcc gcggggactc
      361 gtcgcatgtg gtgggcgagg gcgtgccccg gatccacgct aaggcggccg agatgaggcg
      421 catctacggc cggatcgaca agctggaggc cttcgtgcgg atgatcggga gcagcgtggc
      481 caggatggag gagcaggtcg ccaaggccga agccgagctg gggaccttcc cgcgggcctt
      541 ccggaggctg ctgcatacca tcagcgtccc cgctctcttc aggtcggcgc ccagcgggcc
      601 ccagcgcgcg gcgtacgagc cgccagtcct gtttcggacc gaggaccact tccctggctg
      661 cggtgacaga ccgcagctct gagcgtgtgc gcctccaccg catgaggact ccagcgagac
      721 tcttgtccca agtgttaaga aatcctgtga actggcgtat gtgatgccgg gatgtgaaag
      781 gttaaagttt attttctgca aacgacttga catcgtcagt attcgatgcc aagagtgtag
      841 gtctctatgt cttccagttc ggattcgaaa gctctttggt ggggacctgg ggaagccaac
      901 tgaattaatt tatcggtgca atacggcaga gctgttattt ttatggcctt tattacagtg
      961 aacagtgttt ccttgttaag atttatatat ttatatgatc aaaagtgccc aagaaattaa
     1021 agctgtatta ttaaatccta acagtggttc agttttctgt agccttctgg gatagatagt
     1081 aaattgtttt gtattatatt caattttcta tggtgtagac tgtaagccaa aggaaagaag
     1141 acagtttctt aagatagcaa actgggcgtt ttgttgcagg gagtcctgaa gttgtatttg
     1201 acagtttgac tggaagctta gtttatcaaa gcaagaatat taatgtatgg ttgtcagtgt
     1261 tctatttata gcacatcaat taaaatgtta aatttctttg gcagag
//
