LOCUS       NM_019788               3494 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus biogenesis of lysosomal organelles complex-1, subunit
            6, pallidin (Bloc1s6), mRNA.
ACCESSION   NM_019788
VERSION     NM_019788.3
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 3494)
  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 3494)
  AUTHORS   Seugnet,L., Anaclet,C., Perier,M., Ghersi-Egea,J.F. and Lin,J.S.
  TITLE     A marked enhancement of a BLOC-1 gene, pallidin, associated with
            somnolent mouse models deficient in histamine transmission
  JOURNAL   CNS Neurosci Ther 29 (1), 483-486 (2023)
   PUBMED   36258293
  REMARK    GeneRIF: A marked enhancement of a BLOC-1 gene, pallidin,
            associated with somnolent mouse models deficient in histamine
            transmission.
REFERENCE   3  (bases 1 to 3494)
  AUTHORS   Yuan,Y., Liu,T., Huang,X., Chen,Y., Zhang,W., Li,T., Yang,L.,
            Chen,Q., Wang,Y., Wei,A. and Li,W.
  TITLE     A zinc transporter, transmembrane protein 163, is critical for the
            biogenesis of platelet dense granules
  JOURNAL   Blood 137 (13), 1804-1817 (2021)
   PUBMED   33513603
REFERENCE   4  (bases 1 to 3494)
  AUTHORS   Lee,F.Y., Larimore,J., Faundez,V., Dell'Angelica,E.C. and
            Ghiani,C.A.
  TITLE     Sex-dimorphic effects of biogenesis of lysosome-related organelles
            complex-1 deficiency on mouse perinatal brain development
  JOURNAL   J Neurosci Res 99 (1), 67-89 (2021)
   PUBMED   32436302
REFERENCE   5  (bases 1 to 3494)
  AUTHORS   Gupta,S., Konradt,C., Corken,A., Ware,J., Nieswandt,B., Di
            Paola,J., Yu,M., Wang,D., Nieman,M.T., Whiteheart,S.W. and
            Brass,L.F.
  TITLE     Hemostasis vs. homeostasis: Platelets are essential for preserving
            vascular barrier function in the absence of injury or inflammation
  JOURNAL   Proc Natl Acad Sci U S A 117 (39), 24316-24325 (2020)
   PUBMED   32929010
REFERENCE   6  (bases 1 to 3494)
  AUTHORS   White,R.A., Peters,L.L., Adkison,L.R., Korsgren,C., Cohen,C.M. and
            Lux,S.E.
  TITLE     The murine pallid mutation is a platelet storage pool disease
            associated with the protein 4.2 (pallidin) gene
  JOURNAL   Nat Genet 2 (1), 80-83 (1992)
   PUBMED   1284644
REFERENCE   7  (bases 1 to 3494)
  AUTHORS   Swank,R.T., Reddington,M., Howlett,O. and Novak,E.K.
  TITLE     Platelet storage pool deficiency associated with inherited
            abnormalities of the inner ear in the mouse pigment mutants muted
            and mocha
  JOURNAL   Blood 78 (8), 2036-2044 (1991)
   PUBMED   1912584
REFERENCE   8  (bases 1 to 3494)
  AUTHORS   Novak,E.K. and Swank,R.T.
  TITLE     Lysosomal dysfunctions associated with mutations at mouse pigment
            genes
  JOURNAL   Genetics 92 (1), 189-204 (1979)
   PUBMED   115747
REFERENCE   9  (bases 1 to 3494)
  AUTHORS   Hurley,L.S.
  TITLE     Interaction of genes and metals in development
  JOURNAL   Fed Proc 35 (11), 2271-2275 (1976)
   PUBMED   133823
  REMARK    Review article
REFERENCE   10 (bases 1 to 3494)
  AUTHORS   Green,M.C., Sweet,H.O. and Bunker,L.E.
  TITLE     Tight-skin, a new mutation of the mouse causing excessive growth of
            connective tissue and skeleton
  JOURNAL   Am J Pathol 82 (3), 493-512 (1976)
   PUBMED   176891
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY015259.1, AK147116.1, AI596295.1 and CJ304271.1.
            
            On Jul 20, 2006 this sequence version replaced NM_019788.2.
            
            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 :: AK147116.1, AK077720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##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
            1-12                BY015259.1         1-12
            13-1300             AK147116.1         16-1303
            1301-1303           AI596295.1         144-146
            1304-3481           AK147116.1         1305-3482
            3482-3494           CJ304271.1         404-416
FEATURES             Location/Qualifiers
     source          1..3494
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 60.66 cM"
     gene            1..3494
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 6, pallidin"
                     /db_xref="GeneID:18457"
                     /db_xref="MGI:MGI:1927580"
     exon            1..200
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..637
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /note="syntaxin 13-interacting protein pallid; pallid
                     protein; syntaxin 13 binding protein 1; pallidin; BLOC-1
                     subunit 6; biogenesis of organelles complex-1, subunit 6,
                     pallidin"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 6"
                     /protein_id="NP_062762.1"
                     /db_xref="CCDS:CCDS16668.1"
                     /db_xref="GeneID:18457"
                     /db_xref="MGI:MGI:1927580"
                     /translation="MSVPEPPPPDGVLTGPSDSLEAGEPTPGLSDTSPDEGLIEDFPV
                     DDRAVEHLVGGLLSHYLPDLQRSKRALQELTQNQVVLLDTLEQEISKFKECHSMLDIN
                     ALFTEAKHYHAKLVTIRKEMLLLHEKTSKLKKRALKLQQKRQREELEREQQREKEFER
                     EKQLTAKPAKRT"
     exon            201..342
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /inference="alignment:Splign:2.1.0"
     exon            343..430
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /inference="alignment:Splign:2.1.0"
     exon            431..517
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /inference="alignment:Splign:2.1.0"
     exon            518..3494
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2086..2091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /note="hexamer: AATAAA"
     polyA_site      2106
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /note="major polyA site"
     regulatory      3460..3465
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
                     /note="hexamer: AATAAA"
     polyA_site      3482
                     /gene="Bloc1s6"
                     /gene_synonym="BLOC-1; Hps9; pa; Pldn; Stx13bp1"
ORIGIN      
        1 tttcgtcact tccgtgtgcc tcggcggctt tcgtccggat ggactctgga acgcgttagg
       61 tttctttgcc tgtgacttct ccacagcact cgcctcacgc agcgcccagt gcggggatat
      121 gagtgttcct gagccaccgc ctccagacgg ggtccttacg gggccttccg acagcctgga
      181 ggccggcgag cccacgccgg gcttaagcga cacgtctcca gatgaaggac tgatagagga
      241 cttccctgtg gacgatagag ctgtagagca cttggtggga ggcctgctgt cccactactt
      301 accagatctg cagaggtcca agcgagcact ccaggaactc acacagaacc aagttgtgtt
      361 actagataca ctggaacaag agatttcaaa atttaaagaa tgccactcca tgttggacat
      421 caatgctttg ttcacagagg cgaagcacta tcacgccaag ctggtgacta taaggaagga
      481 gatgctgctg ctccatgaga aaacgtccaa gttgaaaaaa agagcactga agctgcagca
      541 gaagcggcag agagaagagc tggagaggga gcagcaacgc gaaaaggaat ttgaaagaga
      601 aaagcagctg acagccaagc cagccaagag gacatgagga gcctgccttc gggttcctgg
      661 cccatcctgc ttcctggatc cccattgctg tacacagaga gcgaggcgtg gccggtgcct
      721 tatgccgtgg catgtcctga aatgtttcca gggttgctgt gtctttcaac tcttgcttaa
      781 ctttacaatt attatttgat cttaaatcat ttggaaaatg aaaaacactt tggctgttcc
      841 agagtctggg ttcaaaatga gcagaaggtc tgagctcctt gagaattgat tttagtttca
      901 gtttctcctt tcctgaaggc aggcctttcc tgtatggcca cactgatttt tggcaattgc
      961 tttttattgt ttaaagagaa ataccaattg tctgatcacg aatctcccag caagagagct
     1021 gctgagcttt tatgaagacc ataggcagtg tgtgcacact ggaaacacca ggaccttaga
     1081 tgcaggctgg gagttgatgg cagacagatt tttccagccc ttctcctcag ttttcccctg
     1141 ttgctgctgc tgtagatttt gggttcaggg caggattcta tccattccta atgctgtgca
     1201 acaatggtgg acctgccaga tcctcaaagg catctctctc tctctctctc tttctctttc
     1261 tctctctctc tctctgtgtg tgtgtgtgtg tgtgtgtgtg tgcatgctac aatgtaacaa
     1321 tgtttctgta cttcctccct ccctccccac tccccctttc tttctagaga cagcaggctc
     1381 tctataaagc cctggctgtc ctcaagaacc tgtggggacc aggttggcct caaacttaac
     1441 aatccacctg cctcttattc ccaagtgctg ggattaaagg tgtgcaccgc catgccttgt
     1501 tctggttttt aagtagaaca aaatctgctg ctgctcacat catatgtaaa tagtgtacag
     1561 aagagagggc atgatgcctt tactgttttc tagaactttt ttccctgttg ttgtatgtag
     1621 gagtttactc tgtaaggcaa gatgaagtat cattgttgga aatcaaaagt gcagtagtat
     1681 actttctcgt cttagtgttt aataggaagc ttgtttctag accctattgt gtgtgagcag
     1741 cacaagctac aaaggtgtct gattagaatg cgcatctttt atagcccaca ttaccctttt
     1801 agtaagctgg gattactacc tctgatcaca tacggggcga tagagagatc gataaagagg
     1861 accagtgctc agaacctgta gcttaaagaa aggcataact ttctttgaag gagcccgctc
     1921 cttcctaatg aatgaattgt gatcccacag atattgatct tgacttctgt tcaagaatat
     1981 aatgagtcta tttgaaaggc tgtaaccctt agtcacttgt tgtcactcct agagcacaag
     2041 tcaataggac ctgcaggaca atgtcattac cttgcaaaat gttacaataa aatgcctgat
     2101 agctgacgaa ggctggcgat tcttttcatg ctgactttag accagtggtg gtgattgttt
     2161 caagtgctgt tcctggacac ttctggaaaa cttcctcagt cttaaagtga atctattctt
     2221 tgttttgctt aaagtttctg ccagcgattc tggtatacct taaaggatga ggcacttctg
     2281 ggtctggctg ccactggcag ggtttcccac actaaactgc atgtcctttt cacctgggaa
     2341 cttaagaaag tgcagacatt accagttctg ttgtggggcc atagaagagt tggagtgctc
     2401 cagattctga tgcaaggaac tggtgggata gaccgtccag tggcttacac tcataagcaa
     2461 tgcaatcgtt tcaaagctac ccagtaattt gtggaattaa tcttaagaaa gaaattattc
     2521 actactgctt ttgatagaat cagatttaaa actgaacctt agctagcagg aaattaagag
     2581 tcctagttaa tgaattggat ttttttttcc cgagacaggg tttctctgta tagccctggc
     2641 tgtcctggaa ctcactctgt agaccaggct ggcctcaaac tcaaatccac ctgcctctgc
     2701 ctcccgagtg ctgggatcaa aggcatgcgc caccacgccc cgctaattgg actttttgac
     2761 ctgtattaaa ataatcatgt ttaatgaatg gatggcaatg tggcaatatg ttttgagaat
     2821 tatattaagt ttttaagact ttttaacata tcagaaagat gggctggaga gcttgttcag
     2881 cagttaagag cacttaatgc ctttgcagag gaccaggatt ctattcctac ctcccacttg
     2941 gcagctcaca gccatctgta cctccagttc caggggatcc agtcccctca tctggcttct
     3001 gtagcatcag gccacataga tggtgcacct actcacacgt agatgagaca ctcacccaca
     3061 taatagagaa ataaatctac aaaaagaagt atacatcatt acccaccact ttaaggtcag
     3121 aggttaatca gaaacaccat aggtgatgaa gccctaaagt tttatctgta tttcagtaac
     3181 gtggaaacac aataaccaaa cacttgctgt atttttcaac aaatagaaat tggccaaaag
     3241 aaaattgttt ttgaaataat atcagatatg tatggtgctg acatgcgggg tgctcatttt
     3301 cagctgattt gtcatgagtg tcaggcaaat gtgcagacat tgaatggaga tgtgtccaca
     3361 gtgaattgtg gtgtggattc agttcaccag taccaattat atgctgaaac acctttgttt
     3421 gattttgatc ctataaatga aaactacttt tatgaactta ataaaaacgt cagaatcacc
     3481 cagcattgtt tatc
//
