LOCUS       NM_177692               1873 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus biogenesis of lysosomal organelles complex-1, subunit
            3 (Bloc1s3), transcript variant 1, mRNA.
ACCESSION   NM_177692
VERSION     NM_177692.4
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 1873)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1873)
  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   3  (bases 1 to 1873)
  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   4  (bases 1 to 1873)
  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   5  (bases 1 to 1873)
  AUTHORS   Setty,S.R., Tenza,D., Truschel,S.T., Chou,E., Sviderskaya,E.V.,
            Theos,A.C., Lamoreux,M.L., Di Pietro,S.M., Starcevic,M.,
            Bennett,D.C., Dell'Angelica,E.C., Raposo,G. and Marks,M.S.
  TITLE     BLOC-1 is required for cargo-specific sorting from vacuolar early
            endosomes toward lysosome-related organelles
  JOURNAL   Mol Biol Cell 18 (3), 768-780 (2007)
   PUBMED   17182842
  REMARK    Erratum:[Mol Biol Cell. 2017 Feb 1;28(3):500.. PMID: 28137951]
REFERENCE   6  (bases 1 to 1873)
  AUTHORS   Ahmed,F., Lundin,L.G. and Shire,J.G.
  TITLE     Lysosomal mutations increase susceptibility to anaesthetics
  JOURNAL   Experientia 45 (11-12), 1133-1135 (1989)
   PUBMED   2513223
REFERENCE   7  (bases 1 to 1873)
  AUTHORS   Ahmed,F. and Shire,J.G.
  TITLE     Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL
            mice
  JOURNAL   J Hered 76 (4), 311-312 (1985)
   PUBMED   4031470
REFERENCE   8  (bases 1 to 1873)
  AUTHORS   Orn,A., Hakansson,E.M., Gidlund,M., Ramstedt,U., Axberg,I.,
            Wigzell,H. and Lundin,L.G.
  TITLE     Pigment mutations in the mouse which also affect lysosomal
            functions lead to suppressed natural killer cell activity
  JOURNAL   Scand J Immunol 15 (3), 305-310 (1982)
   PUBMED   7089489
REFERENCE   9  (bases 1 to 1873)
  AUTHORS   Daniel,W.L., Harrison,B.W. and Nelson,K.
  TITLE     Genetic regulation of murine hepatic arylsulfatase B activity
            during development
  JOURNAL   J Hered 73 (1), 24-28 (1982)
   PUBMED   7069188
REFERENCE   10 (bases 1 to 1873)
  AUTHORS   Gibb,S., Hakansson,E.M., Lundin,L.G. and Shire,J.G.
  TITLE     Reduced pigmentation (rp), a new coat colour gene with effects on
            kidney lysosomal glycosidases in the mouse
  JOURNAL   Genet Res 37 (1), 95-103 (1981)
   PUBMED   7203014
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC149052.3.
            
            On Jun 9, 2018 this sequence version replaced NM_177692.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC043666.1, BK005392.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164142 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AC149052.3         137826-137891
            67-1873             AC149052.3         138586-140392
FEATURES             Location/Qualifiers
     source          1..1873
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 9.92 cM"
     gene            1..1873
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 3"
                     /db_xref="GeneID:232946"
                     /db_xref="MGI:MGI:2678952"
     exon            1..66
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /inference="alignment:Splign:2.1.0"
     exon            67..1873
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..663
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="Bloc-1 complex component; Bloc1 subunit 3; reduced
                     pigmentation protein; biogenesis of lysosome-related
                     organelles complex-1, subunit 3"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 3"
                     /protein_id="NP_808360.2"
                     /db_xref="CCDS:CCDS20904.1"
                     /db_xref="GeneID:232946"
                     /db_xref="MGI:MGI:2678952"
                     /translation="MESSQGRRRRPGTVVPGEAAETDSELSASSSEEELYLGPSGPTR
                     GRPTGLRVAGEAAETDSEPEPEPTVVPVDLPPLVVQRDPAETWGTEETPAMAPARSLL
                     QLRLAESQTRLDHDVAAAVSGVYRRAGRDVAALAGRLAAAQATGLAAAHSVRLARGDL
                     CALAERLDIVAGCRLLPDIRGVPGMEPEQDPGPRA"
     regulatory      1192..1197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="hexamer: AATACA"
     polyA_site      1210
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="major polyA site"
     regulatory      1853..1858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="hexamer: AATAAA"
     polyA_site      1873
                     /gene="Bloc1s3"
                     /gene_synonym="Blos3; E230011O18; rp"
                     /note="major polyA site"
ORIGIN      
        1 gctgcgagag accggctcac ttccgccagg cagcggaccc cttgggctcg gagcctcgga
       61 gacccgctcc gtgccatgga gtcatcccag ggtcggcgga gaaggccggg gacagtggta
      121 cctggggaag ctgcggagac cgactcggag ctgtctgcat cctcgtccga ggaggaacta
      181 tacctgggtc cctcgggccc tacgcgcggc cgtcccacgg ggctgcgtgt ggccggggag
      241 gcggcggaga ccgactcgga gcctgagccc gagcccacgg ttgtgccggt cgacctgccc
      301 ccgctcgtgg tgcagcgcga tccggcggag acttggggca cggaggagac ccctgccatg
      361 gcgcctgcgc gctcgctgct gcagctccgg ttggctgaga gccagacgcg cctggaccac
      421 gacgtagcgg ctgcggtgag cggcgtgtac cgccgtgcgg gtcgcgatgt ggccgccctg
      481 gcggggaggc tggcggctgc tcaggccacc gggctggcag ccgcccacag cgtgcgcctg
      541 gcgcgcgggg acctctgcgc gctcgccgag cgcctggata tcgtggctgg ctgtcgcttg
      601 ctgccggaca tacgaggggt ccctggtatg gagcccgagc aggacccggg acctagagcc
      661 taggctgtca ctctgtgtcc ccccacctga ctctgcctct tggtgaacat tcgtaccacc
      721 tgtggcatct gactctgttt ttgttcctgg atcaccgagg cctccaatgc gtggtagcat
      781 ttgatcaatg ccgacagaag ccgaatcctc gcatcttctt tgatattctt agcacaattc
      841 cgggctcccc aacccaggtt ctgtggctat caagtagctt agcccctatc cattctggtc
      901 ctgtttccta aattcagctt tactcttggg caaagccaga ggtttgcttt cttttgttga
      961 gcctttctga atttaggctt tggggggtag tggtgtctct ctagtttaca tccctaaatg
     1021 atgatcactc ctgacccgag gataccttcc tcttacacat atccctctta ccgaccgctg
     1081 tggccaaatg cagaccaacc tagggcctgg gtagtaaccc taattcttag gcctttgtgt
     1141 caggggcagc gcctcctggt gttttgatcg ctatagagac atgacaccac aaatacaaat
     1201 ctaccactca ctgtgtctct ttctggatgc taaaaggact tggattctga cctctatggg
     1261 cctcgaggat aacaggttct ttttgcctct ttgggtttgg ctctttgggt gtctttttgg
     1321 ccactccttt tgtctctgtc ttaatgagga ttcagtgacc ttatgtggaa gggagctcgg
     1381 gtggtggggt gagactgtag ctcagtggtg tcgtgtacgc ttagtgtggg cggccctggg
     1441 ttcaattcct aggaccaccc tgcttcaaaa gaaacaaaca agcacattct ttgtttgttt
     1501 gttttgtttt tgttttgttt tttgagacag ggtttctctg tgtagtcctg gctgtcctgg
     1561 aactcacttt gtagaccagg ctggcctcaa actcagaaat tcacctgctt ctgcctccca
     1621 agtgctggga ttaaaggcgt gtgccaccac tgcccggtca aactagaaca ttcttagatg
     1681 cctgtgtccc ctttaaaaat ttacccaggg tggggggtgg ggtggggctg gaaagtagag
     1741 gtcctgagtt caaaccccag aaaccacatg gtggctcaca accatctgta ttgagatctg
     1801 atgccctctt ctggtgtgtc tgaagacagc tacaatgtac ttatatataa taaataaatt
     1861 attaaaaaat tta
//
