LOCUS       NM_080634               4011 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus HPS3, biogenesis of lysosomal organelles complex 2
            subunit 1 (Hps3), transcript variant 1, mRNA.
ACCESSION   NM_080634
VERSION     NM_080634.4
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 4011)
  AUTHORS   Saul,M.C., Stevenson,S.A., Zhao,C., Driessen,T.M., Eisinger,B.E.
            and Gammie,S.C.
  TITLE     Genomic variants in an inbred mouse model predict mania-like
            behaviors
  JOURNAL   PLoS One 13 (5), e0197624 (2018)
   PUBMED   29768498
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4011)
  AUTHORS   Kook,S., Qi,A., Wang,P., Meng,S., Gulleman,P., Young,L.R. and
            Guttentag,S.H.
  TITLE     Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak
            Syndromes
  JOURNAL   Am J Respir Cell Mol Biol 58 (5), 566-574 (2018)
   PUBMED   29190429
REFERENCE   3  (bases 1 to 4011)
  AUTHORS   Young,L.R., Gulleman,P.M., Short,C.W., Tanjore,H., Sherrill,T.,
            Qi,A., McBride,A.P., Zaynagetdinov,R., Benjamin,J.T., Lawson,W.E.,
            Novitskiy,S.V. and Blackwell,T.S.
  TITLE     Epithelial-macrophage interactions determine pulmonary fibrosis
            susceptibility in Hermansky-Pudlak syndrome
  JOURNAL   JCI Insight 1 (17), e88947 (2016)
   PUBMED   27777976
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4011)
  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   5  (bases 1 to 4011)
  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 4011)
  AUTHORS   McGarry,M.P., Reddington,M., Novak,E.K. and Swank,R.T.
  TITLE     Survival and lung pathology of mouse models of Hermansky-Pudlak
            syndrome and Chediak-Higashi syndrome
  JOURNAL   Proc Soc Exp Biol Med 220 (3), 162-168 (1999)
   PUBMED   10193444
REFERENCE   7  (bases 1 to 4011)
  AUTHORS   Odorizzi,G., Cowles,C.R. and Emr,S.D.
  TITLE     The AP-3 complex: a coat of many colours
  JOURNAL   Trends Cell Biol 8 (7), 282-288 (1998)
   PUBMED   9714600
  REMARK    Review article
REFERENCE   8  (bases 1 to 4011)
  AUTHORS   Cornwell,M.M.
  TITLE     Molecular biology of P-glycoprotein
  JOURNAL   Cancer Treat Res 57, 37-56 (1991)
   PUBMED   1686722
  REMARK    Review article
REFERENCE   9  (bases 1 to 4011)
  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   10 (bases 1 to 4011)
  AUTHORS   Novak,E.K., Sweet,H.O., Prochazka,M., Parentis,M., Soble,R.,
            Reddington,M., Cairo,A. and Swank,R.T.
  TITLE     Cocoa: a new mouse model for platelet storage pool deficiency
  JOURNAL   Br J Haematol 69 (3), 371-378 (1988)
   PUBMED   3408670
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK036663.1 and BC058235.1.
            
            On Apr 7, 2009 this sequence version replaced NM_080634.3.
            
            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 :: BC058235.1, AK034377.1 [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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AK036663.1         9-34
            27-4011             BC058235.1         1-3985
FEATURES             Location/Qualifiers
     source          1..4011
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 6.12 cM"
     gene            1..4011
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="HPS3, biogenesis of lysosomal organelles complex 2
                     subunit 1"
                     /db_xref="GeneID:12807"
                     /db_xref="MGI:MGI:2153839"
     exon            1..262
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..3054
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hermansky-Pudlak syndrome 3 protein homolog; cocoa
                     protein; Hermansky-Pudlak syndrome 3 homolog; BLOC-2
                     complex member HPS3"
                     /codon_start=1
                     /product="BLOC-2 complex member HPS3 isoform 1"
                     /protein_id="NP_542365.3"
                     /db_xref="CCDS:CCDS17260.1"
                     /db_xref="GeneID:12807"
                     /db_xref="MGI:MGI:2153839"
                     /translation="MVRLYNLHPFGSQQVVPCQWEPEQVCCGGSDALFVAAGCKVEAF
                     AVQGEELCRQRCAFSTLGRVLRMAYSEAGDYLVAIEEKNKTIFLRAYVNWRSKRSDNS
                     RVCIRMVGHNVEASFCESFRDQMSIIEMPMSEAPLCFSCCPVKGDLLVGCTNKLVLFT
                     LKYDIINEEFSILNFERSLIIHIDNITPVEISFCVGYVAVMSDLEVLLLKLESDPIHG
                     ESVDHHPQETSNPLKEAEGVSNETSQLESEDFVICLKPMELIGEKCEQSGISVKLEST
                     GLEDEKVKYLRVRHLLYRRFAPDISSYVLSDNIKLHSLQLLPIHQSGFHPDENDLSPK
                     KEMPNLFCFFSLPHVGYLYMVVKSVELMSVYWYPEKSQQAVLTPQFLHVITSQSLQCF
                     TVRCSAAVAHEEDLYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAE
                     PEAIPERRESPKKLISRKDASVRSGTPHVAEAAWNLYLVNTTAPVQLYKEMVDYSNSY
                     KTVKTESCLHLLSEAHLLVRAALMDGSQLEPAEKAELLEAFKESCGHLGDCYSRLTTE
                     QSHLALPYYKMSGLSLAEVLARVDWTEESESQKYERGLVFYINHSLYENLDEELSKEL
                     AAKVAQIFHMAEPKQLPHVLSSPSMKNIDPLTALHYLRKLDSCGVSPVLVTLTKAAVA
                     LKMGDLDMYRNEMKSHSEMKLVYGFILEPRLLIQQWKGQIVPTELAIDLKETQPGLLV
                     ASVLGLQKNDKIGIVETDSFFKVLCGKDEDAVPQLLIDFWEAQLVACLPNVVLEELFF
                     KLISQYVWRLSERRCPDTVPLRTAEDLINACSHYGLVNPWVHVLTTSDSLADKNYTDD
                     LLKLQSLICSPSLDVASIIPFLEPLSEDTVAGLSTHALCHTRLQEYEQCIDTLLERCP
                     EAVIAYANQELKEDHWILWWKKLLPELCQRVKSGGERSHLHLSLLKETLSVIAVGLDL
                     RDFLNVLPEDGAAAFFLPYLLFCSRKKSLT"
     exon            263..754
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            755..926
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1012
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1202
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1284
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1439
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1548
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1730
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1911
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..2145
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..2331
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2332..2520
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2521..2628
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2629..2835
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2836..2926
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     exon            2927..4011
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3250..3255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="hexamer: TATAAA"
     polyA_site      3270
                     /gene="Hps3"
                     /gene_synonym="coa"
     regulatory      3767..3772
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="hexamer: AATAAA"
     polyA_site      3792
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="major polyA site"
     regulatory      3991..3996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps3"
                     /gene_synonym="coa"
                     /note="hexamer: AATAAA"
     polyA_site      4011
                     /gene="Hps3"
                     /gene_synonym="coa"
ORIGIN      
        1 agctctctaa gcttgcggaa gccgcccagc ggtccgggcg ccgggatggt gcgtctgtac
       61 aacctgcacc cgtttgggtc gcagcaggta gtcccctgcc agtgggagcc ggagcaggtc
      121 tgctgcggcg ggagcgacgc gctgttcgtg gctgccggct gcaaggtgga ggcgttcgct
      181 gttcagggcg aagagctgtg ccggcagcgc tgcgccttct ccacgctagg cagggtgctg
      241 cgcatggcct acagcgaagc cggagactat ctggtagcaa ttgaggagaa aaacaaaact
      301 atattcctgc gtgcttacgt gaattggagg agtaagagga gcgacaactc ccgtgtgtgc
      361 attcgaatgg ttggccacaa tgtggaggca tccttctgtg aaagctttag agaccagatg
      421 tctataattg agatgccaat gtctgaggcc cctttgtgct tttcgtgttg tcctgtgaaa
      481 ggagatcttc ttgttggatg tacaaataag ttagtgttat ttactttgaa gtatgatatc
      541 attaatgagg aattctcaat attgaacttt gaacgttcat taattataca catagataat
      601 atcactcctg ttgaaatctc tttttgtgtt ggatatgttg ctgtcatgtc tgatttagaa
      661 gtcttactcc taaaactgga gtcagaccct atacatggag agagtgttga ccaccaccca
      721 caagaaacca gcaatccatt gaaagaggcg gaaggtgtca gtaatgaaac ttcacaactt
      781 gagtcagaag attttgttat ctgtctaaaa cccatggaac tcattggtga aaaatgtgaa
      841 cagtctggga tatctgttaa actggagtcc acaggattag aagatgaaaa agtaaaatat
      901 ttacgtgttc ggcatctatt gtatagacgt tttgctccag atatttcgtc ctatgtcttg
      961 tctgataaca tcaagttaca ttcccttcag ctgctaccca ttcaccaaag tggttttcat
     1021 cctgatgaaa atgatttatc gccgaaaaaa gagatgccaa atctcttctg tttcttctcg
     1081 ttacctcatg tgggctatct gtacatggtt gtgaagtctg ttgaattaat gtcagtctat
     1141 tggtatcctg agaagtctca acaagccgtg ctcacaccac agttcttgca tgtcatcaca
     1201 agccaaagcc tgcagtgttt cacggtgcga tgcagtgcag cggtggcaca tgaggaagac
     1261 ctatacatgg atactacgct aaaggcttgc ccacctgtca gtatggacgt ttgtgctcta
     1321 aggatacagc ttttcatagg cttgaaagcc atctgtcact ttaaaaacca cattatactt
     1381 ctgacgaagg cagagcctga ggccattcca gagagaagag agtcacccaa gaaacttatt
     1441 tctagaaaag atgccagtgt taggagcgga acccctcacg tggctgaagc ggcatggaat
     1501 ctgtatctcg tgaacaccac ggcaccagtg cagctgtaca aagaaatggt agactatagt
     1561 aacagctaca agaccgtgaa aaccgagagc tgtctccacc tgctcagtga ggctcatctg
     1621 ctagtgagag ctgccctgat ggatggcagt cagctggagc ctgcagagaa agcagaactc
     1681 ctggaagctt ttaaagaaag ctgtggacac cttggagact gttacagcag gcttaccact
     1741 gagcaatccc atctcgcctt gccgtactat aagatgtctg gtttgtctct ggctgaagtc
     1801 ttggcccgtg tggactggac agaagagagt gaatcacaga aatatgagag aggactagta
     1861 ttttatatta atcattctct ttatgaaaac ctggatgaag aattaagtaa agaattagca
     1921 gcaaaagtgg ctcagatatt ccacatggct gagccgaagc agctgcctca tgttctctct
     1981 agcccttcta tgaagaatat tgatccctta actgccttgc attatttaag gaagctggat
     2041 agttgtggag tttcacccgt cttagtgacc ttgaccaagg ctgcagtggc cttgaaaatg
     2101 ggagatcttg acatgtacag aaatgagatg aaaagccatt cggagatgaa gctggtgtat
     2161 ggcttcattc tggaaccccg gctgttaatt caacagtgga aaggacagat tgttcctaca
     2221 gaacttgcga ttgacttgaa ggaaactcag cctggattgc ttgtggcttc agtcctgggc
     2281 ttacagaaga atgataaaat tggaattgta gaaacagatt ctttctttaa ggtgctgtgt
     2341 ggaaaggatg aagacgcagt tccgcagctt ttgatagact tctgggaagc tcagctcgta
     2401 gcttgtctcc caaatgtggt acttgaggaa ctctttttca agctcatctc tcagtacgtt
     2461 tggaggttat ctgagaggcg gtgtcctgac accgtaccac tgagaacagc ggaggatttg
     2521 ataaatgcct gcagtcatta tggcctagta aatccatggg ttcatgtgtt aacgacatct
     2581 gattccttag ctgataaaaa ttacacagac gaccttctga aattacagtc tctcatctgt
     2641 agcccttcat tggacgtagc ctccattatt ccgtttttgg agccactctc agaagacact
     2701 gttgccggcc tcagtactca tgctctctgc catacacgct tacaagagta tgaacagtgc
     2761 atagacacgt tgctagagag atgcccagag gccgtcattg cgtatgctaa tcaggaactg
     2821 aaggaagatc actggattct gtggtggaaa aagctgctgc ctgagctctg ccagagagtc
     2881 aagagtggtg gcgagaggtc ccaccttcac ctgtcattgt taaaagaaac cttgtcggtt
     2941 attgctgtgg gactggacct gagggatttc ttgaatgttc tcccagaaga tggggcagca
     3001 gcatttttcc tgccctacct ccttttctgc agccggaaga aatcactaac ttgatggtat
     3061 ccttggcagc gtagtggcat aagtgactgc actttgaatg ctctgcctta gataaaataa
     3121 actcaaaggt ttgtgttaat atgcattgta gctgctttaa gggtgcttac cttaccctgt
     3181 aattgtagct gttagcttaa tcaataacct gatcccattt acttgtctag aatgtaaaaa
     3241 tcttcaaaat ataaagtcac ttcacatgta tttccttttg gtttttattt ttttcactct
     3301 attctgtgtg agtccatgaa ccttgtgctg acctcaatct gtgcgagcct tataggtgca
     3361 aaaggccaca aatgtaattt ccaaaccaga ctcaggcttc tgttgtgaga aatagcttgg
     3421 cctcagtgct gaaggcatga caatcatgtc cacctagggt cattggaagg aaatgcatcg
     3481 caaattgctc aaatgccctt cttactcgtc aaacaatacc ttaattgtta cagatttatc
     3541 ttctgggtta ctagtttgta tttttttgta agtataagaa agatgtaatg tgccacccca
     3601 gtgaaagact gcatactcgg ctttggaaac tcgtggtatc tttctctcag aatcagataa
     3661 acggactctt gtctggctgt taacatgact tgtttacaca tattttcagc caaagtcttg
     3721 tttctattct ttatatgtat ataccccaac ccatagtata tgagaaaata aaaaattttt
     3781 atgatgttca aatctgtcta ataatttcct atgtttattt gtttgcttga tttggtttat
     3841 tttaaaggtt tttattttat ttatttattt ttcataaatt cattcttttt aatagctgag
     3901 tagtactcca ttgtgtaaat gtaccacata ttctgtatcc attcctctgt tgaggggcat
     3961 ctgggttctt tccagcttct ggctattata aataaagctg ctatgaacat a
//
