LOCUS       NM_001005247            4828 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus HPS5, biogenesis of lysosomal organelles complex 2
            subunit 2 (Hps5), transcript variant 1, mRNA.
ACCESSION   NM_001005247 XM_485933
VERSION     NM_001005247.2
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 4828)
  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 4828)
  AUTHORS   Itoh,Y., Nagaoka,Y., Katakura,Y., Kawahara,H. and Takemori,H.
  TITLE     Simple chronic colitis model using hypopigmented mice with a
            Hermansky-Pudlak syndrome 5 gene mutation
  JOURNAL   Pigment Cell Melanoma Res 29 (5), 578-582 (2016)
   PUBMED   27333462
  REMARK    GeneRIF: Nonsense Mutation in HPS5 gene is associated with
            hypopigmentation in colitis mice.
REFERENCE   3  (bases 1 to 4828)
  AUTHORS   Li,K., Yang,L., Zhang,C., Niu,Y., Li,W. and Liu,J.J.
  TITLE     HPS6 interacts with dynactin p150Glued to mediate retrograde
            trafficking and maturation of lysosomes
  JOURNAL   J Cell Sci 127 (Pt 21), 4574-4588 (2014)
   PUBMED   25189619
REFERENCE   4  (bases 1 to 4828)
  AUTHORS   Hirobe,T., Ito,S. and Wakamatsu,K.
  TITLE     The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d)) allele inhibits
            eumelanin but not pheomelanin synthesis
  JOURNAL   Pigment Cell Melanoma Res 26 (5), 723-726 (2013)
   PUBMED   23672590
  REMARK    GeneRIF: Effects of the ru2(d) allele on pheomelanin synthesis were
            investigated.
REFERENCE   5  (bases 1 to 4828)
  AUTHORS   Bultema,J.J. and Di Pietro,S.M.
  TITLE     Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous
            lysosome biogenesis machinery to synthesize specialized
            lysosome-related organelles
  JOURNAL   Small GTPases 4 (1), 16-21 (2013)
   PUBMED   23247405
  REMARK    Review article
REFERENCE   6  (bases 1 to 4828)
  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 4828)
  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 4828)
  AUTHORS   Brion,J.P., Guilleminot,J. and Nunez,J.
  TITLE     Dendritic and axonal distribution of the microtubule-associated
            proteins MAP2 and tau in the cerebellum of the nervous mutant mouse
  JOURNAL   Brain Res Dev Brain Res 44 (2), 221-232 (1988)
   PUBMED   3147150
REFERENCE   9  (bases 1 to 4828)
  AUTHORS   Eppig,J.T. and Eicher,E.M.
  TITLE     Analysis of recombination in the centromere region of mouse
            chromosome 7 using ovarian teratoma and backcross methods
  JOURNAL   J Hered 79 (6), 425-429 (1988)
   PUBMED   3209850
REFERENCE   10 (bases 1 to 4828)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC082542.1 and AF534396.1.
            
            On Nov 18, 2009 this sequence version replaced NM_001005247.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1. Variants 1 and 2 encode the same
            protein.
            
            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 :: AF534396.1, SRR13422597.1533426.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-203               BC082542.1         1-203
            204-1826            AF534396.1         1-1623
            1827-3011           BC082542.1         1728-2912
            3012-4828           AF534396.1         2809-4625
FEATURES             Location/Qualifiers
     source          1..4828
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 30.56 cM"
     gene            1..4828
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /note="HPS5, biogenesis of lysosomal organelles complex 2
                     subunit 2"
                     /db_xref="GeneID:246694"
                     /db_xref="MGI:MGI:2180307"
     exon            1..454
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            455..610
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     CDS             503..3883
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hermansky-Pudlak syndrome 5 protein homolog; ruby-eye
                     protein 2; ruby eye 2; Hermansky-Pudlak syndrome 5
                     homolog; BLOC-2 complex member HPS5"
                     /codon_start=1
                     /product="BLOC-2 complex member HPS5 isoform 1"
                     /protein_id="NP_001005247.2"
                     /db_xref="CCDS:CCDS21286.1"
                     /db_xref="GeneID:246694"
                     /db_xref="MGI:MGI:2180307"
                     /translation="MTFVPVIPEAYSHVLAEFESLDPLLTALRLDSSRLRCTSIAVSR
                     KWLALGSTGGGLNLIQKDGWKQRLFLSHREGAISQIACCSHDDDYVAVATSQGLVVVW
                     ELNQERRGKPERIHVSSEHKGRKVTALCWDTAVLRVFVGDHVGKVSAIKLNTLKQAKA
                     AAAFVMFPVQTVLTVDSCVVQLDYLDGRLLVSSLTRSFLCDTEREKFWKIGNKERHGE
                     YGACFFPGRCAGGQQPVIYCARPGSRMWEVNFDGEVLSTHQFKKLLSMPPLPVITARS
                     EPQYDHTVGSSQSLAFPKLLHLSEHCVLTWTEKGIYIFIPQNVQVLLWSEVKDIQDVA
                     VYKNELFCLHFNGKISHLSLLSVERCVERLLRRGLWDLAARTCCLFQNSIITSRARKT
                     LTADKLEHLKSQLDLTACSELISQLDDLILRFEPLESACSSRRSSISSHESFSILDSG
                     IYRIISSRRGSQSDEDSCSLHSQTFSEDERLKEFASHQEEEQPEQGCGANRNEESASH
                     SPVMSEVDKSEAFLPFSIALPFRSPSPLVSLQAVKDSVSSFVRKTTEKIGTLHGSPEL
                     KEPFESKDADRAHEEEVSAVTCPLEEDTEEKEIHQPPKEDRLQELTAATAEAMTKLLD
                     PLVLFEPKVLRMVLLEWLSQLEKTFAMKDFPGISNTSSPTVKSNLGAHLLGETEKRVL
                     DEESGEGRRVSLVTEEAGGQITCDPVSNLSEPSADRFRVCSPYAITNSLQRDLAELTT
                     LCLELNVLTSAMESVGGHVDRASQQLSPEILACRFLKKYFFLLDLKRAKESIKLTYDS
                     PCVWDTFVEGLKEMARSNPAYTELEEGDLPTGLQLLDGSVPSDSPLLIAFATRLYDRF
                     GESALRACIKFYPSISPSDIAQLCRHHPAQFLAYLDSLVKSRPEDQWPSFLEFLLQPE
                     SLRLEWLLLAVSHDAPPSTSTVDDEGHPRPHSHLLSWGYSQLILLLIKLPADFTTKEK
                     MTDICRSYGFWPGYLTLCLELERRREAFTNIVYLNDISLMEGDNGWIPETLEEWKLLL
                     HLLQTKSTRPAPQESLNGSLSDGPAPINVENVALLLAKAMGPDRAWSLLQECGLALEL
                     SEKFTRTCDILRIAERRQRALIQGMLEKCDRFLWSQQA"
     exon            611..721
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            722..786
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            787..979
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1113
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1326
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1398
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1487
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1666
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1825
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            1826..2012
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            2013..2136
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            2137..2286
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            2287..2358
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..2933
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            2934..3054
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3055..3210
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3211..3330
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3331..3444
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3445..3551
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3552..3822
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     exon            3823..4807
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4777..4782
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /note="hexamer: AATAAA"
     polyA_site      4807
                     /gene="Hps5"
                     /gene_synonym="haze; hz; maroon; mr; ru-2; ru2"
                     /note="major polyA site"
ORIGIN      
        1 ccagactgca ggccgcaggg agcggaatcg cgacccgcgg ctggaggggg agggagcacg
       61 cgcggggagg ggcgtgatcg tcacgtgacg aggaagtgcc gttaacagcg ctttcctccg
      121 gtccctggcg cccctggatg acgttgccag ggagggggcg gggtgacagg gtgtgtgagg
      181 ttcaggttcc gctgtcaagg ggtgttgagt gtctgtggag cctgctcggt gaaagcgatc
      241 gctggtctct ggggggggcg gaactcggcc cgctagtcag cctgaggttc tgtgaacctg
      301 gcttggaaaa cctgcttcct ggacttctcc agagtgacag ctgcggttta aagtcataaa
      361 agttagctgt gattgacggg agctccttgt ggtcagggac ttggtctgct gcgcatcctt
      421 catctccagc agcgcctcca gggcctagaa cacgagagaa attctgtgtc tcttacagaa
      481 caaccgtcat ctttctggct aaatgacttt tgtgccagtg ataccagaag cctacagcca
      541 tgttcttgca gagtttgagt ccttggatcc gttactcaca gccctgaggc tggactccag
      601 tcgtctgagg tgtaccagca tagctgtgtc tcggaaatgg ttggcgttag gcagcacagg
      661 aggaggactc aatctcattc agaaagatgg ctggaagcaa aggctgtttc tctctcaccg
      721 ggaaggggca atctctcaga ttgcctgctg ctctcatgat gatgattatg ttgctgtagc
      781 taccagtcaa ggtcttgtag ttgtttggga attaaatcaa gagcgtcgtg ggaagccaga
      841 acgaattcat gtgtcctcag aacacaaagg ccgaaaagtt actgccctct gttgggacac
      901 ggctgttctg agagtctttg tcggtgacca tgtgggcaaa gtatctgcca tcaaactcaa
      961 cactttgaaa caagcaaaag cagctgctgc ctttgtgatg tttcctgtgc agacagtact
     1021 aacagtggac tcgtgtgtcg tccagttgga ttacttggat ggaagattac ttgtgtcttc
     1081 actgactcga tccttcttgt gtgacaccga gagggaaaag ttttggaaaa tcggaaataa
     1141 ggaaagacat ggagaatatg gggcttgttt cttccccggg cggtgtgctg ggggccagca
     1201 gcctgtgatc tactgcgccc gcccaggctc ccggatgtgg gaagtgaact ttgacgggga
     1261 agtgctcagt acacaccagt tcaagaagct cctgtcaatg ccacccctcc ctgtgatcac
     1321 tgcaagatca gagcctcagt atgatcacac agttggatcc tcccagtctt tggcattccc
     1381 caaactcttg catcttagtg aacactgtgt gctgacttgg acagaaaagg gaatttatat
     1441 tttcattcct cagaatgttc aagttcttct ttggagtgaa gtcaaggata ttcaggatgt
     1501 agctgtctac aagaatgaat tgttctgttt acactttaat ggaaaaatct cacatctttc
     1561 cctgttgtct gtggagcgct gtgtagaacg cctgttaagg agaggcctgt gggacctggc
     1621 tgctcgcaca tgctgtctct tccaaaattc tattattacc agcagagcaa gaaaaacatt
     1681 gactgcagat aagttggagc atttgaagtc tcagctggac cttacagcct gcagtgaact
     1741 aatttctcag ctggacgact tgatcttaag gttcgagcct ttggagtcgg cgtgcagcag
     1801 cagaagaagc tccatctcat cgcatgaaag ttttagcatc ttggactctg gtatttatcg
     1861 tatcatcagt agtagaagag gcagtcagtc cgacgaagat tcttgttccc ttcacagcca
     1921 gaccttctca gaagatgaaa ggcttaaaga atttgcctca caccaggaag aggagcagcc
     1981 agagcagggc tgtggtgcca ataggaatga agagagtgct tcccacagtc cagtgatgtc
     2041 tgaggtagat aagagtgaag cttttctgcc cttcagcatt gcactgccat ttcgttctcc
     2101 atctcccctc gtgtctcttc aggctgttaa agacagtgtt tctagctttg tgcgtaaaac
     2161 tactgagaag attggcaccc ttcacggaag ccccgagctg aaagagcctt ttgaatccaa
     2221 ggatgctgac cgagcacatg aagaggaagt gagtgcagtc acctgccctc tggaggagga
     2281 cactgaggag aaagaaattc atcaacctcc taaagaagac aggcttcaag aactcacagc
     2341 agcgacagca gaagcaatga ccaagttatt ggaccctctg gttctgtttg agcccaaggt
     2401 gctaagaatg gttttacttg agtggctttc acagttagag aaaacatttg ccatgaaaga
     2461 cttccccggc atttccaata ccagcagtcc aaccgtgaaa tcaaacttgg gtgcacacct
     2521 cctcggtgag acagaaaaga gagtattaga tgaagagagt ggagaaggaa gaagggtctc
     2581 tttagtcact gaagaagctg gaggtcagat aacctgtgac cctgtaagca acctcagtga
     2641 gccctcggct gaccgttttc gagtatgctc tccatacgcc atcacaaaca gccttcagag
     2701 ggacctggcg gaattgacaa cgttgtgctt ggaactgaat gtgttgactt cagcaatgga
     2761 aagcgtaggt gggcatgtgg accgggcttc acagcagctc tctccagaaa tcctggcttg
     2821 tcgtttccta aagaagtact tttttcttct ggacttgaaa agagcaaagg agagtatcaa
     2881 gctcacttac gacagccctt gcgtttggga cacttttgtc gaaggactaa aagaaatggc
     2941 aagatctaat cctgcctaca cggagctgga agaaggagac ctgcccacgg ggttacagtt
     3001 actggatggc tccgtccctt ctgatagtcc cttgttgatt gcatttgcca cccggttgta
     3061 tgatagattt ggggagtcag cccttcgagc ttgcatcaag ttttatccgt ccatttcgcc
     3121 ctccgacatc gcacagcttt gccgtcatca tcctgctcag ttcttggcct atctagacag
     3181 tctggtgaag tccaggccgg aagaccagtg gccatccttc cttgagttcc ttctacaacc
     3241 agagtcttta agacttgaat ggctgctttt ggcagtgtcc catgatgctc caccaagcac
     3301 aagtacagtg gatgatgaag ggcaccccag gccccattca cacttgcttt cttggggtta
     3361 tagtcagctg attcttcttc ttattaaact tcctgcagac tttacaacca aagagaaaat
     3421 gactgacatc tgtaggtctt acggtttctg gcctggatat cttaccctct gtctggagct
     3481 ggagaggagg agggaggcct tcaccaacat tgtgtatctg aatgacataa gcctgatgga
     3541 aggggacaat gggtggatcc ctgagacctt ggaggaatgg aagcttctcc tacatctact
     3601 acagaccaag agcacaaggc cagctcccca ggagtcacta aacgggagcc tcagtgatgg
     3661 gccagcccct atcaatgtgg agaatgtggc cctcctgtta gctaaggcca tgggcccaga
     3721 tcgggcctgg tcactgctac aggagtgtgg tctggctctt gagttgtcag aaaagttcac
     3781 cagaacctgt gatatcctga ggattgctga gagaaggcag agagcgctga tacaaggcat
     3841 gcttgagaag tgtgaccgct tcctctggtc gcagcaggcc tagttgggga tctactttga
     3901 ccaagtggaa tcctgctctc gaccctgcag aggtctttgg cacagaaggg aagaggacac
     3961 cccaaaacat gctgctgcag ctgctgatgt ctcatcaccg cctggccagc ccttggcttt
     4021 tgtggctctg tgacctcaga gtttctcaag gaagcagtgg gctgaccttc actggaagca
     4081 gcctggaggt gctccctgct gggtcggatt ctttgtgtac accatgaatc agggaattgg
     4141 tttctactga tgcagatctg tagggagcag aagctttggt acaggaagac ataactaata
     4201 ttgtaaactg gagttcaata ctttttctta ctgagttagg acctggaaca atgacatcat
     4261 tcctgttggc ttatgtaata aatactgaag atccaaacta gagttttaaa taagactgcc
     4321 catatctgag ttgagctcag tttcaagtat ttttccagta tgtatttgat attctctaat
     4381 ctaagcctat acgtactgac taatcctgga aatatattat ctgtaagttt tggagagtgg
     4441 gtgacccaaa cgctcacgcc ctctctttta ttttttttat cgggttatgc actttttcct
     4501 tcattccttt ctcttttttt gtcttaattt ataaccctcg ctagcctgga acatgtaggt
     4561 ataccaggct gtctcgactt taaatatcta ctgcctctgc ctcctgaatg ttagaattaa
     4621 gggtttgtgc catcacatat actttaaaat tttattttaa aaagccatag caagagaaag
     4681 ccacgcacta acataaatga taacaaatga ttatattagc caagccatgt aactggattg
     4741 tcatttatga agctttatgt agcctgttat gttggtaata aatgatgaag gttttcttta
     4801 aggagaaaaa aaaaaaaaaa aaaaaaaa
//
