LOCUS       NM_001359853            3343 bp    mRNA    linear   ROD 26-NOV-2024
DEFINITION  Mus musculus HPS4, biogenesis of lysosomal organelles complex 3
            subunit 2 (Hps4), transcript variant 1, mRNA.
ACCESSION   NM_001359853 XM_006534830
VERSION     NM_001359853.1
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 3343)
  AUTHORS   McBride,M.A., Caja,K.R., Patil,T.K., Owen,A.M., Luan,L.,
            Bohannon,J.K., Hernandez,A., Stothers,C.L., Trenary,I.A., Rahim,M.,
            Young,J.D., Calcutt,M.W., Stephens,V.R., Davis,X., Oliver,M.A.,
            Hao,D., Si,C., McRae,M., Nguyen,K.K., Davis,N.S., Wang,J.,
            Patil,N.K. and Sherwood,E.R.
  TITLE     Immunoresponsive Gene 1 Facilitates TLR4-agonist-Induced
            Augmentation of Innate Antimicrobial Immunity
  JOURNAL   J Leukoc Biol (2024) In press
   PUBMED   39351765
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 3343)
  AUTHORS   Schuster,E.M., Epple,M.W., Glaser,K.M., Mihlan,M., Lucht,K.,
            Zimmermann,J.A., Bremser,A., Polyzou,A., Obier,N.,
            Cabezas-Wallscheid,N., Trompouki,E., Ballabio,A., Vogel,J.,
            Buescher,J.M., Westermann,A.J. and Rambold,A.S.
  TITLE     TFEB induces mitochondrial itaconate synthesis to suppress
            bacterial growth in macrophages
  JOURNAL   Nat Metab 4 (7), 856-866 (2022)
   PUBMED   35864246
REFERENCE   3  (bases 1 to 3343)
  AUTHORS   Balci,A., Solano-Collado,V., Baldassarre,M. and Spano,S.
  TITLE     VARP and Rab9 Are Dispensable for the Rab32/BLOC-3 Dependent
            Salmonella Killing
  JOURNAL   Front Cell Infect Microbiol 10, 581024 (2020)
   PUBMED   33392103
  REMARK    GeneRIF: VARP and Rab9 Are Dispensable for the Rab32/BLOC-3
            Dependent Salmonella Killing.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3343)
  AUTHORS   Chen,M., Sun,H., Boot,M., Shao,L., Chang,S.J., Wang,W., Lam,T.T.,
            Lara-Tejero,M., Rego,E.H. and Galan,J.E.
  TITLE     Itaconate is an effector of a Rab GTPase cell-autonomous host
            defense pathway against Salmonella
  JOURNAL   Science 369 (6502), 450-455 (2020)
   PUBMED   32703879
REFERENCE   5  (bases 1 to 3343)
  AUTHORS   Ohishi,Y., Kinoshita,R., Marubashi,S., Ishida,M. and Fukuda,M.
  TITLE     The BLOC-3 subunit HPS4 is required for activation of Rab32/38
            GTPases in melanogenesis, but its Rab9 activity is dispensable for
            melanogenesis
  JOURNAL   J Biol Chem 294 (17), 6912-6922 (2019)
   PUBMED   30837268
  REMARK    GeneRIF: results indicate that activation of Rab32/38 by HPS4 (or
            BLOC-3) is essential for melanogenesis of cultured melanocytes and
            that Rab9 likely regulates melanogenesis independently of HPS4
REFERENCE   6  (bases 1 to 3343)
  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 3343)
  AUTHORS   Patarca,R., Freeman,G.J., Singh,R.P., Wei,F.Y., Durfee,T.,
            Blattner,F., Regnier,D.C., Kozak,C.A., Mock,B.A., Morse,H.C. 3rd,
            Jerrells,T.R. and Cantor,H.
  TITLE     Structural and functional studies of the early T lymphocyte
            activation 1 (Eta-1) gene. Definition of a novel T cell-dependent
            response associated with genetic resistance to bacterial infection
  JOURNAL   J Exp Med 170 (1), 145-161 (1989)
   PUBMED   2787378
REFERENCE   8  (bases 1 to 3343)
  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 3343)
  AUTHORS   Meisler,M.H.
  TITLE     Synthesis and secretion of kidney beta-galactosidase in mutant
            le/le mice
  JOURNAL   J Biol Chem 253 (9), 3129-3134 (1978)
   PUBMED   417081
REFERENCE   10 (bases 1 to 3343)
  AUTHORS   LaVail,M.M. and Sidman,R.L.
  TITLE     C57BL-6J mice with inherited retinal degeneration
  JOURNAL   Arch Ophthalmol 91 (5), 394-400 (1974)
   PUBMED   4595403
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC123848.4 and AK147954.1.
            
            On Jan 18, 2018 this sequence version replaced XM_006534830.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            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 exon combination :: AK147954.1, SRR7974084.17633.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##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
            1-57                AC123848.4         71620-71676         c
            58-419              AK147954.1         2-363
            420-976             AK147954.1         365-921
            977-2006            AK147954.1         923-1952
            2007-2007           AC123848.4         44655-44655         c
            2008-2498           AK147954.1         1954-2444
            2499-2499           AC123848.4         44163-44163         c
            2500-2761           AK147954.1         2446-2707
            2762-3329           AK147954.1         2709-3276
            3330-3343           AC123848.4         36347-36360         c
FEATURES             Location/Qualifiers
     source          1..3343
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 54.69 cM"
     gene            1..3343
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /note="HPS4, biogenesis of lysosomal organelles complex 3
                     subunit 2"
                     /db_xref="GeneID:192232"
                     /db_xref="MGI:MGI:2177742"
     exon            1..69
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            70..1074
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     CDS             1034..3049
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /note="hermansky-Pudlak syndrome 4 protein homolog;
                     light-ear protein; light ear; Hermansky-Pudlak syndrome 4
                     homolog"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS4"
                     /protein_id="NP_001346782.1"
                     /db_xref="CCDS:CCDS19540.1"
                     /db_xref="GeneID:192232"
                     /db_xref="MGI:MGI:2177742"
                     /translation="MATTTPPETKSAAWWNYFFLYDGSKVKGEGDPTRAGICYFYPPQ
                     TLLDQQELLCGQLAGVVRCLWDLSGTPPMLIRMRNLKFAIRADGDYLWALGCGVEISD
                     ASCRQFLDQLIGFFHFYMGPVSLAYKSHPQEELSLQWDTSITQVLRSTSESHRIFNAL
                     WNLDRTKVEPLLLLKAALILQTCQRSPHVLAGCILYKGLIVNSQLLPSLTAKVLLHQT
                     VPADQRLPGAGAAPQETGAALPPDVQITSVFLSEEEVASLHEFPVEHETRLQGSSVQY
                     PPWDQSSPTQAEDAWASAAIPEPTPHDGACPSGSGADERLPRLEQECAGPTGLCTTAC
                     GQGSGLSSRLQKELCLSREELDSSEMHVSEAQEAFPPLPALGDLETLHSSHSAPTLPE
                     DTAICSCLHPCPLERLPESGRLGQLADLPLTNGQTQVPGTDPLPSSMPVALPPQHPVG
                     VEPSVEPYGNGAQESHSALPRSSRSPDSPGPSPSADRTGFKPSPSGRHAGLVPMNLYT
                     HSVNGLVLSLLAEETLLSDTAAIEEVYHSSLASLNGLEVHLKETLPRDEASLTSSTYN
                     FLHYDRIQSVLSANLPLVTAPQDRRFLQAVNLMHSDFALLPMLYEMTIRNASTAVYAC
                     SSPAQETYFQQLAPTARSSGFPNPQDCAFSLAGKAKQKLLKHGVNLL"
     exon            1075..1165
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1309
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1417
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1534
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1629
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1702
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1739
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1836
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..2635
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            2636..2768
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            2769..2877
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     exon            2878..3343
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3314..3319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /note="hexamer: AATAAA"
     polyA_site      3332
                     /gene="Hps4"
                     /gene_synonym="2010205O06Rik; BLOC-3; C130020P05Rik; le;
                     mKIAA1667"
                     /note="major polyA site"
ORIGIN      
        1 gtcatcgcca agcccccacc ggcgggaggt gggtccgcgc gtgatcgcgg ggctgccggg
       61 cgggcgcagt gttatccaca cagtgaaata agactgtcag aaaatttcag cctcgtggat
      121 agtaatttta atgcctgtac cacctgtttc tggacagttc tcttggagga gcgaagaatc
      181 agagtgaggc caagactctt ttctggcaga gtattccatg atacactgag ttgtcttccc
      241 ctctgtcaaa gttctctctt gcactctgaa gggctgcgca cattctgatt aggctcctga
      301 gtgccagttc cttaattttg ggaccatttg actggtgtgg tcccttacac ccagtacctt
      361 ctacactcgt cgtctggttt cccttctgca aagctatttt ctgctgaaaa aaaaaaaaag
      421 gcctttgaag tatctgctac ccgaactctt tttattctaa aacacaagct ctgaaggctg
      481 ctttgaaacc aagtgtttat tgaaccttgt gggtcacatg agtggtcaca ggtttctgaa
      541 agaattgatt ctttgttttt cctcagagct gagatactgg tgtgtgtgtg tgtgtgtgac
      601 ctgggaactt tggacctttt gaagaaactc actggatggc tttggactgt acacaaagtc
      661 agagatccta tcagaagctg ccctgcccat ccagcatgct tctccttgct gtggcactcc
      721 ctggggggga gttggaacag attccagtgt agacagccat acagatgctc ctgaaagcag
      781 ctcacagatg gttgagttaa tctagtccac ctccagtcct cctggacttg tcagcagtgc
      841 agagatactt ctggaaagga acctgccccg aagggaagtt gccttttcat attgattcaa
      901 gagtgaacaa gaggcagaaa ccacctggat ggtccacacc tggcatcact gagctgggga
      961 caccagttgg gggacagaga actgcttcta ggaagaacac cagatgaaga ggatgaagcc
     1021 atctggagag taaatggcca ccaccactcc cccagagaca aagtcagcag cgtggtggaa
     1081 ctacttcttc ctgtatgacg gttccaaggt aaagggagaa ggagacccaa ccagagctgg
     1141 catctgctac ttctatccgc cccagaccct gttagaccag caggaactgc tctgtggcca
     1201 gcttgctgga gtagtgcgct gcctgtggga cctttctggc accccgccca tgctcatccg
     1261 tatgcggaac ctcaagtttg ccatcagggc agatggggac tacctgtggg ctctggggtg
     1321 tggtgtggag atctctgatg ccagctgcag gcagtttctg gatcagctca ttggattttt
     1381 tcatttctac atgggccctg tctccctggc ctacaagagc catcctcagg aggagctgag
     1441 cttgcagtgg gatacctcca tcacacaagt cctcaggagc accagcgaat cgcacaggat
     1501 cttcaatgcc ctgtggaacc tggaccgcac caaagtggag cccctgctgc tgctgaaggc
     1561 agctctcatc ttacagacct gccaacgctc acctcatgtg ctagctggct gcatcctcta
     1621 taaaggactg attgtgaatt cccagctcct gccttccctc actgctaagg tcctgcttca
     1681 tcagactgta cctgcagacc agaggctgcc tggagcagga gctgccccac aggaaacagg
     1741 agcagcgttg cccccggatg tgcagatcac ctctgttttt ctgagtgagg aggaagttgc
     1801 cagcctccac gagttcccag tagagcatga aactcgactc cagggaagtt cagttcaata
     1861 ccctccctgg gatcaaagca gccccaccca ggcagaagat gcctgggcat cagctgccat
     1921 cccggagccc acgccgcatg atggagcatg tccgagtggc agcggggcag atgaacgctt
     1981 gcctaggctt gagcaggagt gtgctgggcc cacgggactg tgcaccactg cctgtggcca
     2041 gggctccggc ctcagcagca ggctgcagaa ggagctgtgt ctctcccggg aggaactgga
     2101 ctcgtctgaa atgcacgttt ctgaggctca ggaagccttc ccacctttgc ctgccctggg
     2161 tgatctggag actctccaca gcagccacag tgcccccact ctacctgaag acacagccat
     2221 ttgcagctgc ctgcaccctt gccctcttga gaggctccct gagagtggaa ggctaggaca
     2281 gctcgcagac ctgcccctca ccaatggcca aacccaggtt cctggcacag accctctccc
     2341 cagcagcatg cctgtggcac ttcctcccca gcatcctgtg ggtgtagagc ccagtgtgga
     2401 gccatacggg aatggagccc aggagagcca ctcagccctg ccacgcagtt cccgctcacc
     2461 tgactctccg ggccccagcc cctctgcaga cagaactggc ttcaagccat ccccatctgg
     2521 acgccacgca gggctcgtgc ccatgaacct ctacacccac agtgtgaacg gactggtgct
     2581 gtccctgctg gccgaagaga ctcttctcag cgacactgca gccatcgagg aggtgtacca
     2641 cagcagcctg gcgtcgctga atgggctgga agtccacctg aaggagacgc tgcccagaga
     2701 cgaggctagc ctcaccagca gcacatacaa cttccttcat tatgaccgca tccagagcgt
     2761 gctctcagcc aacctgcccc tagtgactgc tccccaggac cgccggtttc tgcaggccgt
     2821 caacctcatg cactccgact ttgccctgct gcctatgctg tacgagatga ccatcaggaa
     2881 cgcctccaca gccgtgtacg cctgcagcag cccagcccag gagacctact tccagcagct
     2941 ggcacccact gcccgcagct ctggcttccc aaaccctcag gattgcgcct tcagcctcgc
     3001 aggcaaagcc aagcagaagc tgctgaagca cggggtaaac ctgctgtgag ctgggtgcag
     3061 cttgcatatc acgagggcca tgtccccaat gctaacggtt gagcgggccc ttgctcctca
     3121 gtggcagctg caagaactga gtgggctcag gtcctgtcct gtggaagcct tgagggcggt
     3181 gcagagcagg ctgcaggctc aggaatgcag cggcaggatt cactgctgac cgtttacttg
     3241 agatacccat ggtgctttgt aaccgtatgg tgcccagttc caggtttatg aagcagattc
     3301 ccaaaggctc aaaaataaaa tgaccaaagt gagttctgag tga
//
