LOCUS       NM_201280               2659 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 5
            (BLOC1S5), transcript variant 1, mRNA.
ACCESSION   NM_201280
VERSION     NM_201280.3
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 2659)
  AUTHORS   Zhong,Z., Wu,Z., Zhang,J. and Chen,J.
  TITLE     A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5
            disruption
  JOURNAL   Pigment Cell Melanoma Res 34 (6), 1112-1119 (2021)
   PUBMED   34058075
  REMARK    GeneRIF: A novel BLOC1S5-related HPS-11 patient and zebrafish with
            bloc1s5 disruption.
REFERENCE   2  (bases 1 to 2659)
  AUTHORS   Boeckelmann,D., Wolter,M., Kasmann-Kellner,B., Koehler,U.,
            Schieber-Nakamura,L. and Zieger,B.
  TITLE     A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated
            with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human
            BLOC-1 Deficiencies
  JOURNAL   Cells 10 (10), 2630 (2021)
   PUBMED   34685610
  REMARK    GeneRIF: A Novel Likely Pathogenic Variant in the BLOC1S5 Gene
            Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview
            of Human BLOC-1 Deficiencies.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2659)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2659)
  AUTHORS   Pennamen,P., Le,L., Tingaud-Sequeira,A., Fiore,M., Bauters,A., Van
            Duong Beatrice,N., Coste,V., Bordet,J.C., Plaisant,C., Diallo,M.,
            Michaud,V., Trimouille,A., Lacombe,D., Lasseaux,E., Delevoye,C.,
            Picard,F.M., Delobel,B., Marks,M.S. and Arveiler,B.
  TITLE     BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak
            syndrome
  JOURNAL   Genet Med 22 (10), 1613-1622 (2020)
   PUBMED   32565547
  REMARK    GeneRIF: BLOC1S5 pathogenic variants cause a new type of
            Hermansky-Pudlak syndrome.
REFERENCE   5  (bases 1 to 2659)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2659)
  AUTHORS   Ciciotte,S.L., Gwynn,B., Moriyama,K., Huizing,M., Gahl,W.A.,
            Bonifacino,J.S. and Peters,L.L.
  TITLE     Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a
            novel protein that is part of the pallidin-muted complex (BLOC-1)
  JOURNAL   Blood 101 (11), 4402-4407 (2003)
   PUBMED   12576321
REFERENCE   7  (bases 1 to 2659)
  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 2659)
  AUTHORS   Falcon-Perez,J.M., Starcevic,M., Gautam,R. and Dell'Angelica,E.C.
  TITLE     BLOC-1, a novel complex containing the pallidin and muted proteins
            involved in the biogenesis of melanosomes and platelet-dense
            granules
  JOURNAL   J Biol Chem 277 (31), 28191-28199 (2002)
   PUBMED   12019270
REFERENCE   9  (bases 1 to 2659)
  AUTHORS   Zhang,Q., Li,W., Novak,E.K., Karim,A., Mishra,V.S., Kingsmore,S.F.,
            Roe,B.A., Suzuki,T. and Swank,R.T.
  TITLE     The gene for the muted (mu) mouse, a model for Hermansky-Pudlak
            syndrome, defines a novel protein which regulates vesicle
            trafficking
  JOURNAL   Hum Mol Genet 11 (6), 697-706 (2002)
   PUBMED   11912185
REFERENCE   10 (bases 1 to 2659)
  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 AF426434.1, AL096800.20 and
            AA653396.1.
            
            On Nov 22, 2018 this sequence version replaced NM_201280.2.
            
            Summary: This gene encodes a component of BLOC-1 (biogenesis of
            lysosome-related organelles complex 1). Components of this complex
            are involved in the biogenesis of organelles such as melanosomes
            and platelet-dense granules. A mouse model for Hermansky-Pudlak
            Syndrome is mutated in the murine version of this gene. Alternative
            splicing results in multiple transcript variants. Read-through
            transcription exists between this gene and the upstream EEF1E1
            (eukaryotic translation elongation factor 1 epsilon 1) gene, as
            well as with the downstream TXNDC5 (thioredoxin domain containing
            5) gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: CR749569.1, AF426434.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397457.7/ ENSP00000380598.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2245              AF426434.1         26-2270
            2246-2257           AL096800.20        92110-92121         c
            2258-2659           AA653396.1         12-413              c
FEATURES             Location/Qualifiers
     source          1..2659
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..2659
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 5"
                     /db_xref="GeneID:63915"
                     /db_xref="HGNC:HGNC:18561"
                     /db_xref="MIM:607289"
     exon            1..125
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..577
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein Muted homolog; muted homolog; BLOC-1 subunit 5;
                     biogenesis of lysosome-related organelles complex 1
                     subunit 5; biogenesis of lysosomal organelles complex-1,
                     subunit 5, muted"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 5 isoform 1"
                     /protein_id="NP_958437.1"
                     /db_xref="CCDS:CCDS4506.1"
                     /db_xref="GeneID:63915"
                     /db_xref="HGNC:HGNC:18561"
                     /db_xref="MIM:607289"
                     /translation="MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHS
                     RLLDHRPVIQGETRYFVKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSL
                     SQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVD
                     EEHRKAMERLKEQYAEMEKDLAKFSTF"
     exon            126..208
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /inference="alignment:Splign:2.1.0"
     exon            209..338
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /inference="alignment:Splign:2.1.0"
     exon            339..397
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /inference="alignment:Splign:2.1.0"
     exon            398..2659
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2221..2226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /note="hexamer: ATTAAA"
     polyA_site      2245
                     /gene="BLOC1S5"
                     /gene_synonym="BLOS5; HPS11; MU; MUTED"
                     /note="major polyA site"
ORIGIN      
        1 ggaactggtc gggatgagtg gcggagggac agagacccct gtgggttgtg aggccgcccc
       61 gggcggtggc agcaagaaga gggactccct ggggactgcg ggctcagcgc acctcattat
      121 caaggatctt ggagaaattc attcaaggct tttggatcac agaccagtta ttcaaggtga
      181 aactcgttat tttgtaaaag aatttgaaga aaaacgtggt cttcgagaaa tgcgagttct
      241 tgaaaatttg aagaacatga tccatgaaac aaatgaacat actcttccca aatgtagaga
      301 cacaatgcgg gacagcctca gccaggttct ccagagattg caagcagcta atgactcagt
      361 ctgtagactc caacagaggg aacaggaacg aaaaaagatt catagtgacc acttagtagc
      421 tagtgagaaa cagcatatgc tccagtggga caacttcatg aaggagcaac ccaacaaaag
      481 ggctgaagtg gatgaagagc acagaaaagc catggaaagg cttaaagaac aatatgctga
      541 gatggagaag gacctagcga aattttcaac cttttaagaa cttgaaccac aacaatcaca
      601 aactaatgag aagatgttca cctctctcct gaaaactatt cccaccagac cgtttagcct
      661 ctgcttcaag cttagcaata tattcagtgg cactcttata tcagaagaaa gaagtttcta
      721 ctggcattct gattggatat ttaaagaagg gtgccacatt tttccagctt taagtgccta
      781 tatatgatta tttgaatgaa gaggagtagg aaggaaaatg gaatcaatat actctttgtt
      841 agtcagaatt gatcatcttt tccattgatt agctcagaga actgtaggta tagacttctt
      901 agaaagataa tttcattcat ttctatacag ggttaacaat agtttattat tgtggcttaa
      961 tgggaaggta tagaagctac ctgtcatagc ctccttggct gttggaagga tgtataaagt
     1021 gttactgcat gagtaatgta gacaaaaaaa aaagccagct gtccttggag cagagatcac
     1081 atttcagaga ggtgagagtg aacacattgt ctctgctgtg gcaaagatgg ccacgctggt
     1141 gtttgagctg cctcttggga agcgttgcat attttacagt gcagcataat gccatgggct
     1201 tccgtggatg ggaagacaca tgttaagttt tgtggccttc cagcacttac tattttcagc
     1261 tttttaaagc atgcttagaa ggaaaagctt accaaaaata tattttgaca tttagttttt
     1321 ccaagagcta taatcttgcc catagtattt acctcatttt tgtgtctgtt ttgctgtggg
     1381 taagctttat aagataaata atgtctatac atgtttcgac tgtttaatga gtaatcaaca
     1441 aaatctgcca gagagtccct ctggaaccat ataaagttcc tggctttgaa tgaaccagaa
     1501 gtgtttgccc acacagcaaa tggtccatgt taaatgtaaa tcctttttag tgttaatgtc
     1561 tgttctcata agcaggtata ttatgatgaa acatgtacca gttctgtcat cactgtgatc
     1621 tttaaaaacc tgcatttaac agtctaattt gaggctgggt gcagtggctc acacctgtaa
     1681 tctcaacact ttgggaggcc gaggcaggcg gatcatttga agtcaggagt tcaagcctag
     1741 cctggccaac atggtgaaac cccgtctcta ctaaaaatac aaaaattagc ccggcatgtt
     1801 ggtgcacgct tgtaatccca gctactcagg agtctgaggc acgagaatca cctgaactca
     1861 ggaggcggag gttgcggtga gctgagatgg caccactgca ctccagcttg ggtgacagag
     1921 tgagactcca tctcaacaaa aaaaaaatct aactgaagaa ctaagttgat tttttatttg
     1981 ccataaacca agcaaaagta aatgcaataa tttcgagatt tatggtaaac aaatttgagg
     2041 tatggataaa tctttcacat attttttatt gctctttagt aaagaaaggc acaagaaaga
     2101 aaatatccag ctctcttgtg ttatctcagt gtggcgactg cagaaaattg acaatgcctg
     2161 cctgtgtaaa tgtatggctt actgtcaaag cttcattctt ggctgcatgt tgaaaatgtg
     2221 attaaagtta atagaggaga tgaaataagt atttgagatt tttttcaata acactgaact
     2281 tctgccaact ttctctatcc gctactgtag gcttgacagg ctcatcaatc atttgctggt
     2341 acctggacta aaaagcgcac ttgctgacac caaggcatgt tggaattttc ttaattcagt
     2401 ggatggaaaa agaaatactt ccaaaaatat cccacacatg aaaagggagg ggagccttaa
     2461 atgaaaattc cctttgtacc gtagacactt tttggaatgc gattaattgc caacacatca
     2521 ttgaacgaat gctgtaacca agaaattaag attgtgtgtg tgaagggaat atattcttaa
     2581 ctgtggctac ccaacttgta tagcaaagat ttctgatagt ttgtgttcat ctcatgtgaa
     2641 taataaatac tttacccta
//
