LOCUS       NM_212550               2561 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 3
            (BLOC1S3), mRNA.
ACCESSION   NM_212550
VERSION     NM_212550.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2561)
  AUTHORS   Pennamen,P., Tingaud-Sequeira,A., Michaud,V., Morice-Picard,F.,
            Plaisant,C., Vincent-Delorme,C., Giuliano,F., Azarnoush,S.,
            Capri,Y., Marcon,C., Lacombe,D., Lasseaux,E. and Arveiler,B.
  TITLE     Novel variants in the BLOC1S3 gene in patients presenting a mild
            form of Hermansky-Pudlak syndrome
  JOURNAL   Pigment Cell Melanoma Res 34 (1), 132-135 (2021)
   PUBMED   32687635
  REMARK    GeneRIF: Novel variants in the BLOC1S3 gene in patients presenting
            a mild form of Hermansky-Pudlak syndrome.
REFERENCE   2  (bases 1 to 2561)
  AUTHORS   Wei,A., Yuan,Y., Qi,Z., Liu,T., Bai,D., Zhang,Y., Yu,J., Yang,L.,
            Yang,X. and Li,W.
  TITLE     Instability of BLOC-2 and BLOC-3 in Chinese patients with
            Hermansky-Pudlak syndrome
  JOURNAL   Pigment Cell Melanoma Res 32 (3), 373-380 (2019)
   PUBMED   30387913
  REMARK    GeneRIF: BLOC-2 and BLOC-3 were destabilized due to the mutation of
            these Hermansky-Pudlak syndrome (HPS) genes which are so far the
            only reported causative genes in Chinese HPS patients
REFERENCE   3  (bases 1 to 2561)
  AUTHORS   Cullinane,A.R., Curry,J.A., Golas,G., Pan,J., Carmona-Rivera,C.,
            Hess,R.A., White,J.G., Huizing,M. and Gahl,W.A.
  TITLE     A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in
            Hermansky-Pudlak Syndrome type 8
  JOURNAL   Pigment Cell Melanoma Res 25 (5), 584-591 (2012)
   PUBMED   22709368
REFERENCE   4  (bases 1 to 2561)
  AUTHORS   Lee,H.H., Nemecek,D., Schindler,C., Smith,W.J., Ghirlando,R.,
            Steven,A.C., Bonifacino,J.S. and Hurley,J.H.
  TITLE     Assembly and architecture of biogenesis of lysosome-related
            organelles complex-1 (BLOC-1)
  JOURNAL   J Biol Chem 287 (8), 5882-5890 (2012)
   PUBMED   22203680
REFERENCE   5  (bases 1 to 2561)
  AUTHORS   Morgan,N.V., Pasha,S., Johnson,C.A., Ainsworth,J.R., Eady,R.A.,
            Dawood,B., McKeown,C., Trembath,R.C., Wilde,J., Watson,S.P. and
            Maher,E.R.
  TITLE     A germline mutation in BLOC1S3/reduced pigmentation causes a novel
            variant of Hermansky-Pudlak syndrome (HPS8)
  JOURNAL   Am J Hum Genet 78 (1), 160-166 (2006)
   PUBMED   16385460
  REMARK    GeneRIF: A germline mutation in BLOC1S3/reduced pigmentation causes
            a novel variant of Hermansky-Pudlak syndrome (HPS8).
REFERENCE   6  (bases 1 to 2561)
  AUTHORS   Li,W., Zhang,Q., Oiso,N., Novak,E.K., Gautam,R., O'Brien,E.P.,
            Tinsley,C.L., Blake,D.J., Spritz,R.A., Copeland,N.G., Jenkins,N.A.,
            Amato,D., Roe,B.A., Starcevic,M., Dell'Angelica,E.C., Elliott,R.W.,
            Mishra,V., Kingsmore,S.F., Paylor,R.E. and Swank,R.T.
  TITLE     Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant
            dysbindin, a member of the biogenesis of lysosome-related
            organelles complex 1 (BLOC-1)
  JOURNAL   Nat Genet 35 (1), 84-89 (2003)
   PUBMED   12923531
REFERENCE   7  (bases 1 to 2561)
  AUTHORS   Moriyama,K. and Bonifacino,J.S.
  TITLE     Pallidin is a component of a multi-protein complex involved in the
            biogenesis of lysosome-related organelles
  JOURNAL   Traffic 3 (9), 666-677 (2002)
   PUBMED   12191018
REFERENCE   8  (bases 1 to 2561)
  AUTHORS   Kirchhausen,T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   9  (bases 1 to 2561)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (bases 1 to 2561)
  AUTHORS   Introne,W.J., Huizing,M., Malicdan,M.C.V., O'Brien,K.J. and
            Gahl,W.A.
  TITLE     Hermansky-Pudlak Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC422050.1, AY531266.1,
            AK296695.1, AC005757.1, AK130151.1, BU616355.1 and AA436323.1.
            
            On Aug 31, 2019 this sequence version replaced NM_212550.4.
            
            Summary: This gene encodes a protein that is a component of the
            BLOC1 multi-subunit protein complex. This complex is necessary for
            the biogenesis of specialized organelles of the endosomal-lysosomal
            system, including platelet dense granules and melanosomes.
            Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease
            characterized by lysosomal storage defects, bleeding due to
            platelet storage pool deficiency, and oculocutaneous albinism.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038193.3124886.1,
                                           SRR14038191.328794.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433642.3/ ENSP00000393840.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                DC422050.1         40-96
            58-666              AY531266.1         1-609
            667-1039            AK296695.1         704-1076
            1040-1040           AC005757.1         44897-44897
            1041-1335           AK296695.1         1078-1372
            1336-1978           AK130151.1         216-858
            1979-2560           BU616355.1         19-600              c
            2561-2561           AA436323.1         111-111
FEATURES             Location/Qualifiers
     source          1..2561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2561
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 3"
                     /db_xref="GeneID:388552"
                     /db_xref="HGNC:HGNC:20914"
                     /db_xref="MIM:609762"
     exon            1..48
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /inference="alignment:Splign:2.1.0"
     exon            49..2561
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..666
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /note="BLOC-1 subunit 3; biogenesis of lysosome-related
                     organelles complex-1, subunit 3; reduced pigmentation,
                     mouse, homolog of"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 3"
                     /protein_id="NP_997715.1"
                     /db_xref="CCDS:CCDS12656.1"
                     /db_xref="GeneID:388552"
                     /db_xref="HGNC:HGNC:20914"
                     /db_xref="MIM:609762"
                     /translation="MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPS
                     GPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAPAP
                     APARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSV
                     RLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA"
     regulatory      2541..2546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /note="hexamer: ATTAAA"
     polyA_site      2561
                     /gene="BLOC1S3"
                     /gene_synonym="BLOS3; HPS8; RP"
                     /note="major polyA site"
ORIGIN      
        1 actcgggtta ggaagcggat ctcgcaagct ccgagcgtca gctgccggtt cggtgccatg
       61 gcgtcccagg gtcgtcggcg gaggcccctg cggaggccgg agacggtggt gccgggggag
      121 gcgaccgaga cggattccga gcgctctgcg tcctcgtcgg aggaggagga gctgtacctg
      181 ggtccttcgg gcccgacgcg cggccgcccc acggggctgc gggtggctgg ggaagccgcg
      241 gagaccgact cggagccgga gccggagccg gaaccgacgg ccgcgccgag ggacctgcct
      301 ccactcgtgg tgcagcggga atcggcggag gaggcctggg gcacggagga ggccccggcg
      361 cccgcccccg cgcgctcgct cctgcaactt cggctggcgg agagccaggc gcggctggac
      421 cacgacgtgg cggccgccgt gagcggtgtc taccgccgtg caggccgcga cgtggccgcc
      481 ctggctagta ggctggcggc agcccaggcg gcggggctgg cggcggccca cagcgtgcgc
      541 ctggcgcgcg gggacctttg tgcgctggcc gagcgtctgg acatcgtggc tggctgccgc
      601 ctgctgccgg acatccgcgg cgtgccaggg accgagcctg agaaagaccc ggggccgcgg
      661 gcctagccat gattctactt cccaacctga ctgcaatttg ggggtaggcc ttgctgcctc
      721 tgggacctga ctctgtctcc tgtgtctctt atcacccccc acccccgctc ccatcttggt
      781 gtcacccatg ggggctaatc cggtcccctt ggataatgct ttatattgga tatagttcaa
      841 cccctactgc ggagaccagg gccccactat ccttagatct ggttcctctc ccgatcctga
      901 ccctgccgcc tggttctgag ccttcccctg gggcttggct ccagcctttg ttacatagtt
      961 gctccttaat ctgtttccac cctgggggct caccaatttt tttttttttt tttttttttt
     1021 ggagacaggg tgtttatctg tcacccaggc tagagtgcag tggcgggatt actgctcact
     1081 gcaacctcga cctcctgggc tcaagtgatc ctcccagctc agccttcaag agtagctggg
     1141 actgcagacc tgcaccacca cgtccagctg cccggttaat ttttttctgt cggtttgaag
     1201 aggggagaag gtctcactat gttgcccagg cttgtctcaa actcccgggc tcaagcaatc
     1261 ctcccactgt ggcgtcccaa agtgctgggg ttacaggtgt gagccaccac acactgggct
     1321 ctgctctgcc tttctgagtt tggtttctgc ttatggtggg gagcttgttc ccgttcttcc
     1381 cacaagaacc caggatgtgg cacagcttcc ctgccgtctt ccttcactca gttggctacg
     1441 cctcccatcc tagctccact tccagaactg ccttcaccct aggctgggtc cttgttttgt
     1501 ttttagagac agggtctcac tgtgtctccc aggctggagt acagtggcgt gatctcggct
     1561 cactgccacc tccacctccc gagttcaagc gattctcctg cctcagcctc ccgagtagct
     1621 aggattacag gcatgcacca ccacgcctgg ctacttttta tatttttagt agagatgagg
     1681 tttcaccttg ttggccaggc tggtctcgaa ctcctggcct caggtgatcc acccgcctca
     1741 cctcctaaaa tgctgggatt acaggcgtgg gccactgcgc ctagccagct gggtccttgt
     1801 tctgctgccc aagcttggcc ctggttccgt gtgctggttc tactttttgt tctcccatct
     1861 gcctcctgcc tcctcccctt tgagcttagc cccgccctct cagcctgatt tctgtttccc
     1921 aagtccagca gtgtcgtggg ataggttttg ctttctttta ctgtctccat cctacttaca
     1981 cctccctgat cctggggtct ggggactccc catggtttcc ttccttctgc aggcccaaaa
     2041 tgatggcccc tcttaaccca aggcagggga tcttcctccc aactccctgg accaaggtgg
     2101 catttcctgc acacccctcc aggccaagat gatgctcgct ctcaactctg taggccaagg
     2161 tggcgtctcc tcttgactct ccagacctaa agtgacaccc ttcaggcact tcgggcccaa
     2221 ttcagcccag tcctggtgct ttcagcgcca gatgacagca ctttgcagat aagaacgata
     2281 tgatgtgtgg atttcactac atttggctcc tggatgctat aaaaggactt ggatttctga
     2341 cttggctcag ggactggggt tagcagtctc tttctgctcc ttttcacctg tgttttcttc
     2401 cgatcccagc tctggtccct cagccgcatt catatttact ctcctctccc agcctgatat
     2461 ccctgtccct catctcaacc cgaagccaag atctgagccc ccaagatgga gaatggggag
     2521 gagcttttta tggcggactg attaaaactc ttaagcattt a
//
