LOCUS       NM_040669               2642 bp    mRNA    linear   ROD 26-FEB-2024
DEFINITION  Rattus norvegicus HPS1, biogenesis of lysosomal organelles complex
            3 subunit 1 (Hps1), mRNA.
ACCESSION   NM_040669
VERSION     NM_040669.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2642)
  AUTHORS   Gerondopoulos A, Langemeyer L, Liang JR, Linford A and Barr FA.
  TITLE     BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine
            nucleotide exchange factor
  JOURNAL   Curr Biol 22 (22), 2135-2139 (2012)
   PUBMED   23084991
REFERENCE   2  (bases 1 to 2642)
  AUTHORS   Won J, Shi LY, Hicks W, Wang J, Hurd R, Naggert JK, Chang B and
            Nishina PM.
  TITLE     Mouse model resources for vision research
  JOURNAL   J Ophthalmol 2011, 391384 (2011)
   PUBMED   21052544
REFERENCE   3  (bases 1 to 2642)
  AUTHORS   Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N,
            Ghirlando R, van der Sluijs P, Hurley JH and Bonifacino JS.
  TITLE     Assembly of the biogenesis of lysosome-related organelles complex-3
            (BLOC-3) and its interaction with Rab9
  JOURNAL   J Biol Chem 285 (10), 7794-7804 (2010)
   PUBMED   20048159
REFERENCE   4  (bases 1 to 2642)
  AUTHORS   Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T,
            Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA and Tomita Y.
  TITLE     High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among
            Japanese albinism patients and functional analysis of HPS1 mutant
            protein
  JOURNAL   J Invest Dermatol 125 (4), 715-720 (2005)
   PUBMED   16185271
REFERENCE   5  (bases 1 to 2642)
  AUTHORS   Lyerla TA, Rusiniak ME, Borchers M, Jahreis G, Tan J, Ohtake P,
            Novak EK and Swank RT.
  TITLE     Aberrant lung structure, composition, and function in a murine
            model of Hermansky-Pudlak syndrome
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 285 (3), L643-L653 (2003)
   PUBMED   12777251
REFERENCE   6  (bases 1 to 2642)
  AUTHORS   Oh J, LeCras TD and Spritz RA.
  TITLE     Characterization and evolutionary comparison of rat Hps cDNA and
            exclusion of red-eyed dilution (r) locus
  JOURNAL   Mamm Genome 12 (6), 466-468 (2001)
   PUBMED   11353395
REFERENCE   7  (bases 1 to 2642)
  AUTHORS   Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N
            and Spritz RA.
  TITLE     Positional cloning of a gene for Hermansky-Pudlak syndrome, a
            disorder of cytoplasmic organelles
  JOURNAL   Nat Genet 14 (3), 300-306 (1996)
   PUBMED   8896559
REFERENCE   8  (bases 1 to 2642)
  AUTHORS   Moore KJ, Swing DA, Copeland NG and Jenkins NA.
  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   9  (bases 1 to 2642)
  AUTHORS   Novak,E.K., Hui,S.W. and Swank,R.T.
  TITLE     Platelet storage pool deficiency in mouse pigment mutations
            associated with seven distinct genetic loci
  JOURNAL   Blood 63 (3), 536-544 (1984)
   PUBMED   6696991
REFERENCE   10 (bases 1 to 2642)
  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
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF333325.1.
            
            [WARNING] On Oct 7, 2024 this sequence was replaced by NM_040669.2.
            
            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 :: AF333325.1, BC099744.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMD00132261,
                                           SAMD00132262 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2642
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q54"
     gene            1..2642
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /note="HPS1, biogenesis of lysosomal organelles complex 3
                     subunit 1"
                     /db_xref="GeneID:114638"
                     /db_xref="RGD:69193"
     exon            1..66
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..2187
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /note="Hermansky-Pudlak syndrome 1 homolog"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS1"
                     /protein_id="NP_414541.1"
                     /db_xref="GeneID:114638"
                     /db_xref="RGD:69193"
                     /translation="MRCVLVATEGAEVLFYWTDEEFEENLRQKFRQSENEEEELPVLE
                     DQLNTLLAPVIISYMTMLEKLSDTYTCFSTENGDHLYVLHLFGECLFIAINGDHSENE
                     GDLRRKLCVLKYLFEVHFGLVTVDSQLIRKELRPPDLEQRAQVWKHFQRLLGTYSRLR
                     EQEQSFAVEAVERLIHAQLCELSIETLERHVVQAVNSSPERGGEEVLHAFLLVHCKLL
                     AFYSSHVASALRPADLLALILLVQDLQPSQGTTEEEEDGNDGPQPFPHRRPMSSQNIP
                     VQQSRSQSTSVPTRSSKETDTDSISLPEEYFTPAPSPGEQSSGSLVWLDGGTPPSDVL
                     QMAEDTLNGLAPHSPELPRPRRIFLDANIKENYCPLVPHTMYCLPLWPGISMVLLTKS
                     PSTPLALILYQLLDGFSLLEKKLKEGQEAGSALRSQPFVGDLRQKMDKFIKNRVGQEI
                     QNAWLEFKSKAFSRSEPGSSWELLQICGKLKRQLCAIYRLNFLATAPSRGGPHLPQHL
                     QSQAQKLMKERLQDWKDFLLVKSWRNVTIVSYLEDFPGLVHFIYVDRTTGQMVAPSLS
                     PSEKMSSELGKGPLAAFVKAKVWALIRLARRYLQKGCTTLLFQEGDFRCSYFLWFEND
                     MGYKLQMIEVPVLSDDSVPIGVLGGDYYRKLLRYYSKSRPSEPVRCYELLTLHLSVIP
                     TDLLVQQANQLARRLGEASRVTLP"
     exon            67..183
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            184..321
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            322..464
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            465..573
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            574..734
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            735..852
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            853..951
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1021
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1071
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1239
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1419
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1481
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1616
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1682
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1827
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1941
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..2024
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
     exon            2025..2641
                     /gene="Hps1"
                     /gene_synonym="Hps"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcgctgttgt ctgctgaact ggtcagagtc tagctcctgg gaagccccgc tgtgtgcttt
       61 gccaagatga ggtgtgtgtt ggtggccact gagggcgcag aggtcctctt ctactggacg
      121 gatgaggaat ttgaggagaa cctccggcag aagttcaggc agtcagagaa tgaggaagag
      181 gagctccctg tgctggagga ccaactcaac accctcctgg ctccggtcat catctcttac
      241 atgacgatgc tggagaagct ctcggacacg tacacctgct tctcaacaga aaacggcgac
      301 cacctgtatg tcctgcatct gtttggagag tgcctgttca tcgccatcaa tggagaccac
      361 agtgagaacg aaggggacct gcggaggaag ctgtgcgtgc tcaagtacct gtttgaggtg
      421 cacttcgggc tggtgactgt ggacagccag ctcatccgga aggagcttcg tccccctgac
      481 ctggaacagc gtgcccaggt gtggaagcac tttcaaagac tgctggggac ctacagtcgc
      541 ctgcgtgaac aggagcagag ctttgctgtg gaggctgtgg agcggctcat tcacgcccag
      601 ctctgcgaac tgagcatcga gaccctggag cgacatgtgg ttcaagcggt caactccagc
      661 cctgagcggg gcggtgagga ggtcctgcat gccttcctgc ttgtgcactg taagctgctg
      721 gctttctact ccagccatgt tgcgagcgcc ctgcgccctg cagatctcct ggccctcatc
      781 cttctggttc aggacctcca gccctcccaa ggcaccaccg aggaggagga ggatggcaat
      841 gacggccctc agcctttccc ccataggaga cccatgagca gccagaacat cccagtccag
      901 cagtcgagga gccagagcac ctcagttccc accaggagtt ccaaggagac agacacagac
      961 agcatctccc tccctgagga gtacttcacc cctgctcctt ccccgggcga gcagagttca
     1021 ggtagcctcg tctggctgga tggtggcacc ccgcccagcg acgtccttca gatggctgag
     1081 gacaccctca acgggctggc gccacactcc ccagagcttc ccaggcccag aaggatcttc
     1141 ctggatgcca acataaaaga aaactactgt cccttggtgc cccacaccat gtactgcctg
     1201 cccctgtggc cgggcatcag catggtgctg ctgaccaaga gtcccagcac cccactggcc
     1261 ctgatcctgt accaactgct agatggcttc tcgctactgg agaaaaagct gaaggaaggt
     1321 caggaggccg gaagtgccct gcggtcccag ccctttgttg gagacctgcg ccagaagatg
     1381 gacaagttta tcaagaatcg agttgggcag gagattcaga acgcctggct ggagttcaaa
     1441 agcaaagcct tctctagaag tgaaccagga tcgtcctggg agctgcttca gatctgtgga
     1501 aagctgaagc gacagctgtg tgccatctac cggctaaact tcctggccac tgcacccagc
     1561 aggggaggcc cacacctgcc ccagcacctg caaagccaag cccagaaact catgaaggag
     1621 cgacttcagg actggaagga cttcctgttg gtgaagagct ggagaaatgt caccatagtg
     1681 tcctacctgg aggatttccc aggcctggtc cacttcatct atgtggaccg tacgacaggg
     1741 cagatggtgg ctccttctct cagccccagt gaaaaaatgt cttctgagtt gggcaagggg
     1801 cccctggctg ccttcgtcaa agccaaggtc tgggctctga tccgactggc acgcaggtac
     1861 ctgcagaagg gctgcaccac gctgctattc caggaagggg acttccgctg ctcctacttc
     1921 ctgtggttcg agaacgacat gggatacaaa ctgcagatga tcgaggtgcc tgtcctctcc
     1981 gatgactcag tccccattgg cgtgctggga ggtgactact acaggaagct ccttcgttac
     2041 tacagcaaga gccgcccctc ggagccggtc aggtgctatg agctgctgac actgcacctg
     2101 tccgtcatcc ccactgacct gctggtgcag caggccaacc agctcgcccg gcgcctgggg
     2161 gaggcctccc gggtgaccct gccctaggcc ttcttgcttg cagacattca ccatagctag
     2221 gcttcttccg gtcccttctc ccatacccca ctgtggactc ctccacacaa gctaatgagc
     2281 aagccttctc tgaagggagg ggtgccacat ttctgtcggc ccccagaacc gtgtggtcag
     2341 agatggcagc agctgctctg gaaaactgcc cctctgggtg cccagcagag cggaaggaag
     2401 tcttagtact caggctgtgt gaggtcaccg ccctcctgcc gtcctgcaca gggtagctgt
     2461 tttcctaccc tgactggaag gtgctccctc tggctggtct acattccagc ttggcccctg
     2521 cccccttgca actgggccag tgctgtctcc tcacatttga accgacaaca cctacctcag
     2581 ggtggtcagg aggattgctg gacatgctca gatgctcaat aaatgttggc tcttgtcatt
     2641 aa
//
