LOCUS       NM_173809               2619 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 2
            (BLOC1S2), transcript variant 1, mRNA.
ACCESSION   NM_173809
VERSION     NM_173809.5
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 2619)
  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   2  (bases 1 to 2619)
  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   3  (bases 1 to 2619)
  AUTHORS   Yordanov,T.E., Hipolito,V.E.B., Liebscher,G., Vogel,G.F.,
            Stasyk,T., Herrmann,C., Geley,S., Teis,D., Botelho,R.J., Hess,M.W.
            and Huber,L.A.
  TITLE     Biogenesis of lysosome-related organelles complex-1 (BORC)
            regulates late endosomal/lysosomal size through PIKfyve-dependent
            phosphatidylinositol-3,5-bisphosphate
  JOURNAL   Traffic 20 (9), 674-696 (2019)
   PUBMED   31314175
REFERENCE   4  (bases 1 to 2619)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2619)
  AUTHORS   Pu,J., Schindler,C., Jia,R., Jarnik,M., Backlund,P. and
            Bonifacino,J.S.
  TITLE     BORC, a multisubunit complex that regulates lysosome positioning
  JOURNAL   Dev Cell 33 (2), 176-188 (2015)
   PUBMED   25898167
REFERENCE   6  (bases 1 to 2619)
  AUTHORS   Wang,Z., Wei,H., Yu,Y., Sun,J., Yang,Y., Xing,G., Wu,S., Zhou,Y.,
            Zhu,Y., Zhang,C., Zhou,T., Zhao,X., Sun,Q. and He,F.
  TITLE     Characterization of Ceap-11 and Ceap-16, two novel
            splicing-variant-proteins, associated with centrosome, microtubule
            aggregation and cell proliferation
  JOURNAL   J Mol Biol 343 (1), 71-82 (2004)
   PUBMED   15381421
REFERENCE   7  (bases 1 to 2619)
  AUTHORS   Starcevic,M. and Dell'Angelica,E.C.
  TITLE     Identification of snapin and three novel proteins (BLOS1, BLOS2,
            and BLOS3/reduced pigmentation) as subunits of biogenesis of
            lysosome-related organelles complex-1 (BLOC-1)
  JOURNAL   J Biol Chem 279 (27), 28393-28401 (2004)
   PUBMED   15102850
  REMARK    GeneRIF: Biogenesis of lysosome-related organelles complex-1
            (BLOC-1) subunit 2 (BLOS2).BLOC-1 is required for the biogenesis of
            melanosomes and platelet dense granules.
REFERENCE   8  (bases 1 to 2619)
  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   9  (bases 1 to 2619)
  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   10 (bases 1 to 2619)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB118026.1, AK298969.1, AL138921.14 and BX112121.1.
            
            On Nov 22, 2018 this sequence version replaced NM_173809.4.
            
            Summary: This gene encodes a protein with multiple functions. The
            encoded protein has been found in association with the centrosome,
            shown to co-localize with gamma-tubulin, and also found to be one
            of the proteins in the BLOC-1 complex which functions in the
            formation of lysosome-related organelles. A pseudogene of this gene
            is located on the X chromosome. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR14038193.3580307.1,
                                           SRR1803615.185866.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142348,
                                           SAMEA2148093 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370372.7/ ENSP00000359398.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 CB118026.1         33-34
            3-1179              AK298969.1         3-1179
            1180-2076           AL138921.14        187938-188834       c
            2077-2619           BX112121.1         87-629
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..2619
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 2"
                     /db_xref="GeneID:282991"
                     /db_xref="HGNC:HGNC:20984"
                     /db_xref="MIM:609768"
     exon            1..76
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..450
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     centrosome protein oncogene; biogenesis of
                     lysosome-related organelles complex 1 subunit 2;
                     centrosomal 10 kDa protein; BLOC-1 subunit 2; 11 kDa
                     centrosome associated protein"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 2 isoform 1"
                     /protein_id="NP_776170.2"
                     /db_xref="CCDS:CCDS7490.1"
                     /db_xref="GeneID:282991"
                     /db_xref="HGNC:HGNC:20984"
                     /db_xref="MIM:609768"
                     /translation="MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDM
                     FSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAGLQ
                     PYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR"
     exon            77..193
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /inference="alignment:Splign:2.1.0"
     exon            194..313
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /inference="alignment:Splign:2.1.0"
     exon            314..418
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /inference="alignment:Splign:2.1.0"
     exon            419..2619
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1192..1197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /note="hexamer: AATAAA"
     polyA_site      1212
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /note="major polyA site"
     regulatory      2598..2603
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
                     /note="hexamer: ATTAAA"
     polyA_site      2619
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; BORCS2; CEAP; CEAP11"
ORIGIN      
        1 ggaaacagcg cggggtccgc tatggcggcg gcagccgagg gcgtactggc gacccggagt
       61 gatgagcccg cccgagacga tgccgccgtg gagacagctg aggaagcaaa ggagcctgct
      121 gaagctgaca tcactgagct ctgccgggac atgttctcca aaatggccac ttacctgact
      181 ggggaactga cggccaccag tgaagactat aagctcctgg aaaatatgaa taaactcacc
      241 agcttgaagt atcttgaaat gaaagatatt gctataaaca ttagtaggaa cttaaaggac
      301 ttaaaccaga aatatgctgg actgcagcct tatctggatc agatcaatgt cattgaagag
      361 caggtagcag ctcttgagca ggcagcttac aagttggatg catattcaaa aaaactggaa
      421 gccaagtaca agaagctgga gaagcgatga gaaacttatt tctatgggac agagtctttt
      481 ttttttaatg tggaagaatg tcttataaaa cctgaatcct gaggctgatg aattgtgaaa
      541 attcctcaaa aggaaattat gctggtcatc acaggaacat ctcaacgttc gagtaaactg
      601 gaggactgtg gctattcctg aaccttcttt gagacagaat ccctcagaat ctcacactta
      661 taacttccta ccttttactt gaatgctttg ccatattcag gacagagact ctcacaaagt
      721 tcagaaaaca gctggactta ccagtaaaat caaatgagag gacctatttt ctctggtagt
      781 ggttgattac tacattattt tcttaagtgg ctggtttttt agttactatg taaatggtcg
      841 tttttctgtt aatgatgcta atgtgttgta aacaagattc taaatttaaa aaggaaaaca
      901 aaacaaactt gttctttgca gcttatcacc ttgtgaatgt cggtaactta cttttccata
      961 atattgcaaa taacataaaa tcttaaaata attccaagct gagtcttcta gattgagcag
     1021 aaatggtgaa aggagtattg ataacttggc gtatgtgatg ggcccctctt gtttattttc
     1081 tatgtgagtc acattgacat gcgatcagtt tgggaaatgt gatgaaaaca aagactagat
     1141 gggtatgtgt gtttatgtgt tgggtaggga ggtgacgatt gccactcata aaataaagga
     1201 ttttataaaa taccttccta ctgtgtatgt aggatttggg gggatcttag ggacctaatc
     1261 gacttctttg cacactaaaa acatcagaca atgggacata ctgactgacc agtctaggtt
     1321 gaaagatagg cagccttacc cagaacacaa cattagcagc tgggaaggtg tctgaggtcc
     1381 ccaattacat atcccaaaga gtttcttact tctgtttctg tcatttcccc tctgttccag
     1441 acagtcatca tttatcctct gttcttcctg gactgttgct gtggtctctt ctcatcttaa
     1501 ctgtcccttc caaccaccct ccacactgct gccagagcaa tcttaaaaat gtaaactggc
     1561 cctattactc ctgcttagaa ccctgtagtg acttatcatg gcctctgaaa aatctagact
     1621 ttcattatgc atacaagtcc cttgtgtttt tttgtttgtt tatagacagg gtctctattg
     1681 tcacccaggc tggagtgtgg tggtgtgata atagctcacc ttgacctcct aggctcaact
     1741 gatcttccca cctcagcctc ctgaatagct gggactacca gcacgctcca ccatgccttg
     1801 ctaattattt tttatacaga tggagtctca ctatgttgtc caggctggtc ttgaactggc
     1861 ctcaagtgat tctcttacca cagcctgcca gagtgctgag attgtaggca tgaaccaccg
     1921 tgcctaacat aaggccccta tttaaacatt tttcttaaat aaaaaacaaa agaattaaac
     1981 tgtaactcta ctatcttaac atagaatcag tcttacccct tcttccaacc cttttccttt
     2041 tccgtgcatg tattgatcta tttttttttt ttttttgaga tgaagtcttg ctctgtcgcc
     2101 tgggctggag tgcagtggtg cgatcttagc tcactgcaac ctctgtttcc tgggttcaag
     2161 cgattctcct gcctcagcct cccgagtagt tgagatttac aggtgcccac caccatgcca
     2221 ggctaatttt tgtattttta gtagagacgg ggtttcacca tgttggccag gctggtctcg
     2281 aactcctgac cccaaatgat ccacccacct cggcctccca aagtgctggg attacaggtg
     2341 tgagccaccg cacccagcca tgttgatcta tttttaaaaa gtttttattt cctgttacac
     2401 tgtgttcagc tatcttcagc caccttaaat tcccatggat gagttttcat aaactttttg
     2461 aaaatagatt tagatttacg ggaaagttgc aaagataata cagaatttaa tggatgagtt
     2521 tttttattga tgtgtaatag atgtatgtat tttcagagta caagtgataa tttaatacat
     2581 gtatataatg tgtaaatatt aaatcaagag ttattggga
//
