LOCUS       NM_019424               2762 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus HPS1, biogenesis of lysosomal organelles complex 3
            subunit 1 (Hps1), transcript variant 1, mRNA.
ACCESSION   NM_019424
VERSION     NM_019424.3
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 2762)
  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 2762)
  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 2762)
  AUTHORS   Yu,J., He,X., Wei,A., Liu,T., Zhang,Q., Pan,Y., Hao,Z., Yang,L.,
            Yuan,Y., Zhang,Z., Zhang,C., Hao,C., Liu,Z. and Li,W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2762)
  AUTHORS   Summer,R., Krishna,R., Schriner,D., Cuevas-Mora,K., Sales,D.,
            Para,R., Roman,J., Nieweld,C., Gochuico,B.R. and Romero,F.
  TITLE     Matrix metalloproteinase activity in the lung is increased in
            Hermansky-Pudlak syndrome
  JOURNAL   Orphanet J Rare Dis 14 (1), 162 (2019)
   PUBMED   31272455
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2762)
  AUTHORS   Jing,R., Zhang,H., Kong,Y., Li,K., Dong,X., Yan,J., Han,J. and
            Feng,L.
  TITLE     Different functions of biogenesis of lysosomal organelles complex 3
            subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1
            subunit (Ap3b1) genes on spermatogenesis and male fertility
  JOURNAL   Reprod Fertil Dev 31 (5), 972-982 (2019)
   PUBMED   30786955
  REMARK    GeneRIF: Together, the results indicate that the Hps1 and Ap3b1
            genes play distinct roles in male reproductive system development
            and spermatogenesis in mice
REFERENCE   6  (bases 1 to 2762)
  AUTHORS   Paigen,B., Holmes,P.A., Novak,E.K. and Swank,R.T.
  TITLE     Analysis of atherosclerosis susceptibility in mice with genetic
            defects in platelet function
  JOURNAL   Arteriosclerosis 10 (4), 648-652 (1990)
   PUBMED   2369371
REFERENCE   7  (bases 1 to 2762)
  AUTHORS   Moore,K.J., Swing,D.A., Copeland,N.G. and Jenkins,N.A.
  TITLE     Interaction of the murine dilute suppressor gene (dsu) with
            fourteen coat color mutations
  JOURNAL   Genetics 125 (2), 421-430 (1990)
   PUBMED   2379821
  REMARK    Erratum:[Genetics 1990 Sep;126(1):285]
REFERENCE   8  (bases 1 to 2762)
  AUTHORS   McGarry,M.P., Novak,E.K. and Swank,R.T.
  TITLE     Progenitor cell defect correctable by bone marrow transplantation
            in five independent mouse models of platelet storage pool
            deficiency
  JOURNAL   Exp Hematol 14 (4), 261-265 (1986)
   PUBMED   3516713
REFERENCE   9  (bases 1 to 2762)
  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   10 (bases 1 to 2762)
  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
            AC125458.3, BB843487.1, BG062886.2, U97149.1 and BC058332.1.
            
            On Apr 14, 2018 this sequence version replaced NM_019424.2.
            
            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 :: AK171225.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##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
            1-2                 AC125458.3         122648-122649       c
            3-93                BB843487.1         1-91
            94-515              BG062886.2         31-452
            516-2739            U97149.1           463-2686
            2740-2756           BC058332.1         4173-4189
            2757-2762           AC125458.3         97861-97866         c
FEATURES             Location/Qualifiers
     source          1..2762
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 36.56 cM"
     gene            1..2762
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /note="HPS1, biogenesis of lysosomal organelles complex 3
                     subunit 1"
                     /db_xref="GeneID:192236"
                     /db_xref="MGI:MGI:2177763"
     exon            1..65
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            66..158
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            159..320
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            321..458
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            459..601
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            602..710
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            711..871
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            872..995
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1082
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1152
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1202
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1370
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1550
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1612
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1747
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1748..1813
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..1958
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2072
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2155
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2762
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2733..2738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /note="hexamer: AATAAA"
     polyA_site      2756
                     /gene="Hps1"
                     /gene_synonym="6030422N11Rik; ep; Gm21361; Hps"
                     /note="major polyA site"
ORIGIN      
        1 acgtgtccta cccggaagcg cgccgcaggc tggctacacg ctgggcggtg cgagccgcgg
       61 atccgcattt gcaggcccaa ggatgctgtg ctgctgttgt ctgctgacct ggtcagagta
      121 tctagctcct cagaagccct gctgtgtgct ttgccaaggc tgaactcacg gatgtgacct
      181 ttgccctcgc ttttccctgg aagatgaagt gcgtgttggt ggccaccgag ggcgcagagg
      241 tcctcttcta ctggacagat gaggagtttg ctgagagcct ccggctgaag ctccagcagt
      301 cagaggatga ggaagaggag ctccctgtgc tggaggacca gctcagcacc ctcctggccc
      361 cagtcatcat ctcctccatg acgatgatgg agaagctctc ggacacatat acctgcttct
      421 caacagaaaa tgacaaccac ctgtatgtcc tgcatctgtt tggagagtac ctgttcgtcg
      481 ccatcaacgg agaccacagt gagagcgagg gggacctgcg gaggaaactg tgtgtgctca
      541 agtatctatt cgaggtgcac ttcgggctgg tgactgtgga cggccagctc atccggaagg
      601 agcttcgtcc acccgacctg gaagagcgtg cccgggtgtg gaagcacttt cagagactgc
      661 tggggaccta cagctacctg cgggaccggg agcagagctt tgctgtggag gcagtggagc
      721 ggctcattca cccccagctc tgcgaacaga gcatcgagac gctagagcgg cacgtggttc
      781 aagccatcaa cgccagcccc gagcggggcg gtgaagaggt cctgcacgcc ttcctgctgg
      841 tgcactgcaa gctgttggct ttctactccg gccatggtgc gagcaccctg cgccccgcag
      901 acctcctggc gctcatcctt ctggtgcagg acctccagcc ctccccagga accacagagg
      961 aggaggagga ggaggaggat agcgacagcc ctcagaggag acccaagagc agccaaaaca
     1021 tcccagtgca gcaggcaagg agccagagca cctcagtccc caccaggagt tccagggaga
     1081 cagacacaga cagcatctcc ctccctgaag agtacttcac tcctgctcct tccccaggcg
     1141 atcagagttc aggtagcctc gtctggctgg atggtggcac cccgcccagc gatgctcttc
     1201 agatggctga ggacaccccc gaggggctgg cgtctcactc cccagaactt cccagcccca
     1261 gaaggatctt cctggatgcc aacataaaag aaaactactg tcccttagtg ccccacacca
     1321 tgtactgcct gcccctgtgg ccaggcatca acatggtgct gctgaccaag agccccagca
     1381 ccccactggc cctgatcctg taccaactgc tggatggctt ctccctcctg gagaaaaagc
     1441 tgaaggaagg tcaggaggcc ggaagtgccc tgcgatccca gccctttgtt gcagacctgc
     1501 gccagaagat ggacaagttt atcaagaatc gagttgggca ggagattcag aacacctggc
     1561 tggagtttaa gagcaaagcc ttctctagaa gtgagccagg atcgtcctgg gagctgctcc
     1621 aggtctgtgg aaagctgaag cgacagctgt gtgtcatcta ccggcttagc ttcctggtca
     1681 ctgcacccag cagaggagga ccgcacctgc cccagcacct gcaggaccga gcccagaaac
     1741 tcatgaagga gaggcttctg gactggaagg acttcctgtt ggtgaagagc cggagaaatg
     1801 tcaccatggt gtcctacctg gaggatttcc caggcctggt ccacttcatc tatgtggacc
     1861 gtacaaccgg gcagatggtg gccccctctc tcagccccaa cgaaaagatg tcttccgagt
     1921 tgggcaaggg gcccctggct gcctttgtca aagccaaggt ctgggctctg gtccgactgg
     1981 cgcgcaggta cctgcagaag ggctgcacca cactgctgtt ccaggaaggg gacttccgct
     2041 gctcctactt cctgtggttc gagaatgaca tgggatacaa actgcagatg attgaggtgc
     2101 ctgtcctctc ggatgactcc gtccccattg gcgtgctggg aggtgactac tacaggaaac
     2161 ttctgcgcta ctacagcaag agccacccct cggagcccgt caggtgctat gagctgctca
     2221 cgctgcatct gtccgtcatc cccacggacc tgctggtgca gcaggccagc cagctggccc
     2281 ggcgcctggg ggaggcctcc cgggtgaccc tgccctaggc cgtcttgctt gcaggcttct
     2341 tccagtgcct tctctcatac cccactgtgg actcctccac aaaggctgag gagcaagcct
     2401 tctctgaagg gcagggatgc catgattctg tggcccccag aactgtgtgg tcagaggtgg
     2461 cagcagctgc tctgggaagc tgcccttctg ggtgcccggg agagcagaag aacgtcttag
     2521 tgctcaggct gtctgaagcc acccacttcc tgccattctg catagggtag ctgctcccta
     2581 ccccaatcag aaggtactcc ctctggctgg cgccattcca gcttggctcc tgctcccttg
     2641 caactgagtg gatccagttt cctcacaaat tgaactgaca acacctacct ttcagggtgg
     2701 tcaggaggat tgctggatgt gctcgggtgc tcaataaatg ttgattcttg tcattattca
     2761 ag
//
