LOCUS       NM_176785               2696 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus HPS6, biogenesis of lysosomal organelles complex 2
            subunit 3 (Hps6), mRNA.
ACCESSION   NM_176785
VERSION     NM_176785.3
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 2696)
  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 2696)
  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   3  (bases 1 to 2696)
  AUTHORS   Sharda,A.V., Barr,A.M., Harrison,J.A., Wilkie,A.R., Fang,C.,
            Mendez,L.M., Ghiran,I.C., Italiano,J.E. and Flaumenhaft,R.
  TITLE     VWF maturation and release are controlled by 2 regulators of
            Weibel-Palade body biogenesis: exocyst and BLOC-2
  JOURNAL   Blood 136 (24), 2824-2837 (2020)
   PUBMED   32614949
  REMARK    GeneRIF: VWF maturation and release are controlled by 2 regulators
            of Weibel-Palade body biogenesis: exocyst and BLOC-2.
REFERENCE   4  (bases 1 to 2696)
  AUTHORS   Ma,J., Wang,R., Lam,S.M., Zhang,C., Shui,G. and Li,W.
  TITLE     Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak
            syndrome reveals differential changes in pro- and
            anti-atherosclerotic lipids
  JOURNAL   Biosci Rep 39 (2) (2019)
   PUBMED   30710063
  REMARK    GeneRIF: This study analyzed the plasma lipid profiles of three HPS
            mutant mice, pa (Hps9 (-/-)), ru (Hps6 (-/-)), ep (Hps1 (-/-)), and
            wild-type (WT) mice. The findings may provide clues to explain why
            different HPS mutant mice exhibit distinct anti-atherosclerotic or
            atherogenic effects after being exposed to high-cholesterol diets.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2696)
  AUTHORS   Truman-Rosentsvit,M., Berenbaum,D., Spektor,L., Cohen,L.A.,
            Belizowsky-Moshe,S., Lifshitz,L., Ma,J., Li,W., Kesselman,E.,
            Abutbul-Ionita,I., Danino,D., Gutierrez,L., Li,H., Li,K., Lou,H.,
            Regoni,M., Poli,M., Glaser,F., Rouault,T.A. and Meyron-Holtz,E.G.
  TITLE     Ferritin is secreted via 2 distinct nonclassical vesicular pathways
  JOURNAL   Blood 131 (3), 342-352 (2018)
   PUBMED   29074498
REFERENCE   6  (bases 1 to 2696)
  AUTHORS   Kyriakis,J.M., App,H., Zhang,X.F., Banerjee,P., Brautigan,D.L.,
            Rapp,U.R. and Avruch,J.
  TITLE     Raf-1 activates MAP kinase-kinase
  JOURNAL   Nature 358 (6385), 417-421 (1992)
   PUBMED   1322500
REFERENCE   7  (bases 1 to 2696)
  AUTHORS   Danciger,M., Kozak,C.A., Adamson,M.C. and Farber,D.B.
  TITLE     Chromosomal localization of the murine genes for the alpha- and
            beta-subunits of calcium/calmodulin-dependent protein kinase II
  JOURNAL   Mamm Genome 3 (2), 122-125 (1992)
   PUBMED   1319776
REFERENCE   8  (bases 1 to 2696)
  AUTHORS   Mayerhofer,A., Russell,L.D., Grothe,C., Rudolf,M. and Gratzl,M.
  TITLE     Presence and localization of a 30-kDa basic fibroblast growth
            factor-like protein in rodent testes
  JOURNAL   Endocrinology 129 (2), 921-924 (1991)
   PUBMED   1855483
REFERENCE   9  (bases 1 to 2696)
  AUTHORS   Sweet,H.O. and Bronson,R.T.
  TITLE     Osteochondrodystrophy (ocd): a new autosomal recessive mutation in
            the mouse
  JOURNAL   J Hered 82 (2), 140-144 (1991)
   PUBMED   2013688
REFERENCE   10 (bases 1 to 2696)
  AUTHORS   LaVail,J.H., Nixon,R.A. and Sidman,R.L.
  TITLE     Genetic control of retinal ganglion cell projections
  JOURNAL   J Comp Neurol 182 (3), 399-421 (1978)
   PUBMED   102659
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC150685.2, AF536239.1 and AK040849.1.
            
            On Jul 31, 2009 this sequence version replaced NM_176785.2.
            
            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 is intronless :: AK040849.1, AF536239.1 [ECO:0000345]
            ##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
            1-55                AC150685.2         23781-23835         c
            56-2676             AF536239.1         1-2621
            2677-2696           AK040849.1         2624-2643
FEATURES             Location/Qualifiers
     source          1..2696
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 38.75 cM"
     gene            1..2696
                     /gene="Hps6"
                     /gene_synonym="5330434M19Rik; BLOC2; ru"
                     /note="HPS6, biogenesis of lysosomal organelles complex 2
                     subunit 3"
                     /db_xref="GeneID:20170"
                     /db_xref="MGI:MGI:2181763"
     exon            1..2696
                     /gene="Hps6"
                     /gene_synonym="5330434M19Rik; BLOC2; ru"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..2566
                     /gene="Hps6"
                     /gene_synonym="5330434M19Rik; BLOC2; ru"
                     /note="hermansky-Pudlak syndrome 6 protein homolog;
                     ruby-eye protein; ruby eye"
                     /codon_start=1
                     /product="BLOC-2 complex member HPS6"
                     /protein_id="NP_789742.2"
                     /db_xref="CCDS:CCDS29869.1"
                     /db_xref="GeneID:20170"
                     /db_xref="MGI:MGI:2181763"
                     /translation="MKRAGTLRLLSDLSNFTGAARLRELLAGDPAVLVRCSPDGRHLL
                     LLRPPGSPAPQLLVAVRGPGLPLERAWPEGDPSPLDVFFVPWLARPALILVWESGLAE
                     VWGVGMEPGWKLLQSTELCPDGGARVMAVAATRGRLVWCEERQPGVKDQPEQLSTAFS
                     HRVCFKTLETSGEAGTKLGCTHILLHHCPLFGLIASRKDLFLVPTTNTWSGVAHLLLI
                     WSPSKGKVIVAAPSLGLSHSKSLNPKQGDTWDFRTLLRGLPGFLSPREPLAVHTWAPS
                     SQGLLLLDLKGKVSLVQCHGGTRTVGILQEAPVSLKGSAALGTFHGTLACVLGSTLEL
                     LDMSSGRLLEKKVLSTDRVHLLEPPAPGMKNEEELETRGALRLLSALGLFCVCWETPQ
                     GLELPSDKDLVFEEACGYYQRRSLRGTQLTPEELRHNSMFRAPQALASILQGHLPPST
                     LLTTLRAELRDYRSIEQLKAQLVAGDDEEAGWTELAEHEVARLLRTQLTGDQLAQFNT
                     IFQALPTAAWGATLQALQLQPDRSGRLRSQAPPDVWKKVLRAPTAGKEHPNGILPPFE
                     LLCQCLGQLEPQWLPPFVKLAQQQGGPGWGAEGPSLPLYRRALAVLGEEGKRPEALEL
                     ELLLGSGRPKAVLQAVRQLIKKEEWERALEAGLALDASSPLLRSEIFKLLLAEFAQHR
                     RLDAHLPLLCRLCPPEVAPHELLLLLRTHLPDDEGTTPFPEPGAEPPLTVGLVRALLE
                     QTGAQGRPSGPVQSTYEDILWDPGTPPPTPPRGPTASLPASDHPGQEAWVPPGQGLGA
                     ADVGVHL"
     regulatory      2678..2683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps6"
                     /gene_synonym="5330434M19Rik; BLOC2; ru"
                     /note="hexamer: AATATA"
     polyA_site      2683
                     /gene="Hps6"
                     /gene_synonym="5330434M19Rik; BLOC2; ru"
                     /note="major polyA site"
ORIGIN      
        1 ggagtcgacg ttcagtccag ggcttggctc acctcattca ccagggacgg aagtgtcagc
       61 cctgcactcc cccgggtacc aggactagca gtccggcctc gccccactgg gcgatcaggc
      121 cttggctagc tcctgcggca gaggcgtcat gaagcgtgca ggaactctgc gcctgctttc
      181 ggatctgagc aacttcaccg gcgcggcccg gctccgcgag ttgttggcgg gggacccagc
      241 tgtcctagtc cgctgcagcc ctgacggccg ccacttgctg ctattaagac cccccggatc
      301 gcccgcccca cagcttctag tggctgtgcg tgggcccggc ctgccgctgg agcgtgcctg
      361 gccggagggc gacccctcgc cgctggacgt ctttttcgtg ccgtggctgg cgcgacccgc
      421 gctgatcttg gtatgggaga gtggcctagc agaggtttgg ggcgtgggga tggagcctgg
      481 atggaagcta cttcagagca ctgagctgtg tccggatggt ggagcccgcg tgatggccgt
      541 ggccgcaacc cgaggccgcc tagtttggtg cgaggagcgt cagccgggtg ttaaggacca
      601 accagagcag ctttcaacgg ccttcagcca ccgtgtgtgc ttcaagaccc tggaaaccag
      661 cggggaggct ggcaccaaac taggctgcac ccacatcctg ctacaccatt gccccctttt
      721 tggactgata gcctcccgca aggacctctt cctggtgcct actaccaaca cttggtctgg
      781 tgtggcccac cttctgctca tctggagccc aagcaagggg aaggtaatag ttgctgctcc
      841 atctcttggt ctttcacaca gtaaaagcct gaatcccaaa caaggggaca cttgggactt
      901 ccggaccctg ctgcgaggcc ttcctggatt cctgtccccc agggagccac tggctgtaca
      961 cacttgggcc ccatcttcgc agggcttgtt gttgcttgac ttgaaaggga aggtgagcct
     1021 agtgcagtgc catggtggta ctcgaaccgt gggaatcctg caggaggccc ctgtaagcct
     1081 aaaagggtct gcagccctgg ggacatttca cggcacttta gcctgtgtcc tgggctccac
     1141 cttggaacta ctggacatga gcagtgggcg gctgttggaa aaaaaggttc tcagtacaga
     1201 cagagtacat ttgctggagc ctccagcccc gggcatgaag aacgaggaag agctggagac
     1261 ccgaggagcc ctacgattgc tttcagcctt gggtctcttt tgtgtgtgtt gggaaactcc
     1321 ccaaggcctt gagctgcctt cagacaagga cctggtgttt gaggaggcct gtgggtacta
     1381 ccagcgtcgg agccttcgag gtacccagct taccccagaa gaactgagac acaacagcat
     1441 gtttcgggca cctcaggccc tggcctccat cctccagggc cacctgcccc cgtctacact
     1501 cctgacaacc ctgagggctg agctccggga ttatcgtagt atagaacagc tcaaggccca
     1561 gctggtggct ggggacgatg aggaggctgg ctggactgag ttagcggagc acgaggtggc
     1621 ccgcctgctg agaacccagt tgacaggaga ccagctggcc caattcaaca ccattttcca
     1681 agcccttcct acagcagctt ggggtgccac cctccaggca ctgcagctcc agccagatag
     1741 gagtggcagg ctgaggtccc aagcaccccc ggatgtatgg aagaaggtcc taagggctcc
     1801 aacagctgga aaggaacatc ccaatggaat actgccgccc tttgaactcc tgtgtcagtg
     1861 cctgggccag ctcgagcctc agtggctccc cccatttgtg aaactggcac agcagcaggg
     1921 tggccccggc tggggggctg aaggccccag tctgcccctt taccgccgag ccctggcagt
     1981 gctaggtgag gaagggaaga ggcctgaggc tctggaactc gagttgcttt tgggcagtgg
     2041 gcgacccaaa gccgtgctac aagctgtaag gcagctgata aagaaagaag agtgggaacg
     2101 ggctctggaa gccgggctgg ccctggatgc ctccagcccc ctgcttcgaa gtgagatctt
     2161 taagctgctg ctggcagagt ttgcccagca ccgccgcctg gatgcacacc tccctctcct
     2221 ctgtcgcctg tgcccaccgg aagtggctcc acatgagctc ctacttctgc tgaggacaca
     2281 tctcccagat gatgagggaa ccaccccttt ccctgagcct ggggcagagc cccctctcac
     2341 agtgggcttg gtcagagccc tgctagaaca gactggggct caaggaaggc cgtctggccc
     2401 agttcaaagc acctatgagg acatcttatg ggacccaggc actccacccc ctacaccacc
     2461 tcgtggaccc actgcttctc tcccggcatc agaccatcca ggacaagaag cctgggtacc
     2521 acctggacaa gggctcggtg cagctgatgt gggagttcat ttgtagagca cagagatgcg
     2581 aagggaaggg tacctagggt tatgaagcac gaaggtggga cttgtgtgtg caatactgtc
     2641 tgttgtggaa caatttttaa aatacatgca aataccaaat atactcacag aggttt
//
