LOCUS       NM_028607                910 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus biogenesis of lysosomal organelles complex-1, subunit
            2 (Bloc1s2), mRNA.
ACCESSION   NM_028607 XM_193940 XM_619591 XM_901658 XM_925258
VERSION     NM_028607.1
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 910)
  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 910)
  AUTHORS   Yordanov,T.E., Hipolito,V.E.B., Liebscher,G., Vogel,G.F.,
            Stasyk,T., Herrmann,C., Geley,S., Teis,D., Botelho,R.J., Hess,M.W.
            and Huber,L.A.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   3  (bases 1 to 910)
  AUTHORS   He,Q., Gao,S., Lv,J., Li,W. and Liu,F.
  TITLE     BLOS2 maintains hematopoietic stem cells in the fetal liver via
            repressing Notch signaling
  JOURNAL   Exp Hematol 51, 1-6 (2017)
   PUBMED   28456747
  REMARK    GeneRIF: These findings reveal that balanced control of Notch
            signaling by BLOS2 is required for HSC homeostasis during fetal
            liver hematopoiesis.
            Erratum:[Exp Hematol. 2017 Oct;54:51. doi:
            10.1016/j.exphem.2017.06.350.. PMID: 28732189]
REFERENCE   4  (bases 1 to 910)
  AUTHORS   Zhou,W., He,Q., Zhang,C., He,X., Cui,Z., Liu,F. and Li,W.
  TITLE     BLOS2 negatively regulates Notch signaling during neural and
            hematopoietic stem and progenitor cell development
  JOURNAL   Elife 5, e18108 (2016)
   PUBMED   27719760
  REMARK    GeneRIF: BLOS2 physically interacted with Notch1 in endo-lysosomal
            trafficking of Notch1. The findings suggest that BLOS2 is a novel
            negative player in regulating Notch signaling through lysosomal
            trafficking to control multiple stem and progenitor cell
            homeostasis in vertebrates.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 910)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   6  (bases 1 to 910)
  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   7  (bases 1 to 910)
  AUTHORS   Monfregola,J., Napolitano,G., D'Urso,M., Lappalainen,P. and
            Ursini,M.V.
  TITLE     Functional characterization of Wiskott-Aldrich syndrome protein and
            scar homolog (WASH), a bi-modular nucleation-promoting factor able
            to interact with biogenesis of lysosome-related organelle subunit 2
            (BLOS2) and gamma-tubulin
  JOURNAL   J Biol Chem 285 (22), 16951-16957 (2010)
   PUBMED   20308062
  REMARK    GeneRIF: WASH is a bimodular protein and a component of the BLOC-1
            complex in which the C terminus is involved in Arp2/3-mediated
            actin nucleation, whereas the N-terminal portion is required for
            its regulation and localization in the cells
REFERENCE   8  (bases 1 to 910)
  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   9  (bases 1 to 910)
  AUTHORS   Gdynia,G., Lehmann-Koch,J., Sieber,S., Tagscherer,K.E., Fassl,A.,
            Zentgraf,H., Matsuzawa,S., Reed,J.C. and Roth,W.
  TITLE     BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89
            glioblastoma cells to apoptosis
  JOURNAL   Apoptosis 13 (3), 437-447 (2008)
   PUBMED   18188704
REFERENCE   10 (bases 1 to 910)
  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
  REMARK    GeneRIF: Mutations in the human genes encoding Snapin and the BLOS
            proteins could underlie novel forms of Hermansky-Pudlak syndrome as
            seen in mouse models
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC125101.3, AK010745.1 and BX513460.1.
            
            On or before Jul 25, 2009 this sequence version replaced
            XM_925258.2, XM_619591.3, XM_193940.6, XM_901658.2.
            
            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 :: BC065806.1, AK145313.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02146468, SAMN02415125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC125101.3         71037-71053         c
            18-885              AK010745.1         15-882
            886-910             BX513460.1         313-337
FEATURES             Location/Qualifiers
     source          1..910
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 36.72 cM"
     gene            1..910
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 2"
                     /db_xref="GeneID:73689"
                     /db_xref="MGI:MGI:1920939"
     exon            1..88
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..462
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /note="BLOC-1 subunit 2; biogenesis of lysosome-related
                     organelles complex-1, subunit 2A"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 2"
                     /protein_id="NP_082883.1"
                     /db_xref="CCDS:CCDS50445.1"
                     /db_xref="GeneID:73689"
                     /db_xref="MGI:MGI:1920939"
                     /translation="MAAAAEGVPATRREEQPPRDDAAVETAEEAKEPAEADINELCRD
                     MFSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAEL
                     QPYLDQINMIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR"
     exon            89..205
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /inference="alignment:Splign:2.1.0"
     exon            206..325
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /inference="alignment:Splign:2.1.0"
     exon            326..430
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /inference="alignment:Splign:2.1.0"
     exon            431..898
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      876..881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /note="hexamer: ATTAAA"
     polyA_site      894
                     /gene="Bloc1s2"
                     /gene_synonym="2410089B13Rik; Bloc1s2a; BLOS2"
                     /note="major polyA site"
ORIGIN      
        1 cttagaaccg gaagcagcct tgggtcgggc atggcggcgg ctgcggaggg cgtcccggcg
       61 acgcgacggg aggagcagcc acctcgagat gatgctgcgg tggagacagc cgaggaagca
      121 aaggagcctg ccgaagctga catcaatgag ctctgccggg acatgttctc caaaatggcc
      181 acatatttga ctggggaact gacagccacc agtgaagact acaaactcct ggaaaatatg
      241 aataagctaa caagcttgaa gtaccttgaa atgaaagata ttgctatcaa catcagcaga
      301 aacctgaagg acttaaacca gaaatatgct gaactacagc catatctgga ccagatcaac
      361 atgattgagg agcaggtggc agctctggag caggcagcct acaagctcga tgcttattca
      421 aaaaaactgg aagccaagta caagaagttg gagaagcgat gagaatcgtg ttcatgtggc
      481 tcaagtgttt gttaatatgg aagatgtttt ataaccacta agtcctgagg ctgacacatc
      541 atcagagctc ctcagaagaa aatggctggt taagcccaag gccacgcaat actggatgaa
      601 ctggagggcc gtggctgctc cggagtctcc tctgaggtgg tacctctcag aaactcacac
      661 ctgggactcc tcaccgttta cttgaatgct tcatcatcca tctaagatgg agactgtaga
      721 gttcagggca tacctgggtt tgccagtaga gtccagtgag gggacctgtt ttccctggta
      781 ttgggcattt agcacgtcat cttctaaaat ggctgctttg ttttgtttgt tttgttttct
      841 actgatgata tagtgaattg ttaacaagat tctaaattaa aaaggaaaac aaaacaaaaa
      901 aaaaaaaaaa
//
