GGRNA | NR_046314.1

LOCUS       NR_046314               2787 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex-1, subunit
            2 (BLOC1S2), transcript variant 3, non-coding RNA.
ACCESSION   NR_046314
VERSION     NR_046314.1  GI:375151560
KEYWORDS    RefSeq.
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 2787)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest. Ophthalmol. Vis. Sci. 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2787)
  AUTHORS   Monfregola,J., Napolitano,G., D'Urso,M., Lappalainen,P. and
            Ursini,M.V.
  TITLE     Functional characterization of Wiskott-Aldrich syndrome protein and
            scar homolog (WASH), a bi-modular nucleation-promoting factor able
            to interact with biogenesis of lysosome-related organelle subunit 2
            (BLOS2) and gamma-tubulin
  JOURNAL   J. Biol. Chem. 285 (22), 16951-16957 (2010)
   PUBMED   20308062
  REMARK    GeneRIF: WASH is a bimodular protein and a component of the BLOC-1
            complex in which the C terminus is involved in Arp2/3-mediated
            actin nucleation, whereas the N-terminal portion is required for
            its regulation and localization in the cells
REFERENCE   3  (bases 1 to 2787)
  AUTHORS   Rodriguez-Fernandez,I.A. and Dell'Angelica,E.C.
  TITLE     A data-mining approach to rank candidate protein-binding
            partners-The case of biogenesis of lysosome-related organelles
            complex-1 (BLOC-1)
  JOURNAL   J. Inherit. Metab. Dis. 32 (2), 190-203 (2009)
   PUBMED   19083121
  REMARK    GeneRIF: we have explored ways of efficiently gathering
            high-quality information about candidate binding partners fob
            bloc1s2
REFERENCE   4  (bases 1 to 2787)
  AUTHORS   Sun,J., Nie,J., Hao,B., Li,L., Xing,G., Wang,Z., Zhou,Y., Sun,Q.,
            Li,G., Zhang,L. and He,F.
  TITLE     Ceap/BLOS2 interacts with BRD7 and selectively inhibits its
            transcription-suppressing effect on cellular
            proliferation-associated genes
  JOURNAL   Cell. Signal. 20 (6), 1151-1158 (2008)
   PUBMED   18329849
REFERENCE   5  (bases 1 to 2787)
  AUTHORS   Gdynia,G., Lehmann-Koch,J., Sieber,S., Tagscherer,K.E., Fassl,A.,
            Zentgraf,H., Matsuzawa,S., Reed,J.C. and Roth,W.
  TITLE     BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89
            glioblastoma cells to apoptosis
  JOURNAL   Apoptosis 13 (3), 437-447 (2008)
   PUBMED   18188704
  REMARK    GeneRIF: BLOC1S2 protein is widely expressed in normal tissue as
            well as in malignant tumors with a tendency towards lower
            expression levels in certain subtypes of tumors. Over-expression of
            BLOC1S2 in the presence or absence of HIPPI does not induce
            apoptosis.
REFERENCE   6  (bases 1 to 2787)
  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 2787)
  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 2787)
  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 2787)
  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 2787)
  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, BF666010.1, AL139819.8, AL138921.14 and BX112121.1.
            
            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 (3) includes an additional
            internal exon, compared to variant 1. This variant is represented
            as non-coding because use of the supported translational start
            codon, as used in variant 1, renders the transcript a candidate for
            nonsense-mediated mRNA decay (NMD).
            
            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.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                CB118026.1         1-33
            34-404              BF666010.1         1-371
            405-420             AL139819.8         2153-2168           c
            421-608             BF666010.1         390-577
            609-2216            AL138921.14        187938-189545       c
            2217-2787           BX112121.1         87-657
FEATURES             Location/Qualifiers
     source          1..2787
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..2787
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /note="biogenesis of lysosomal organelles complex-1,
                     subunit 2"
                     /db_xref="GeneID:282991"
                     /db_xref="HGNC:20984"
                     /db_xref="MIM:609768"
     misc_RNA        1..2787
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /product="biogenesis of lysosomal organelles complex-1,
                     subunit 2, transcript variant 3"
                     /db_xref="GeneID:282991"
                     /db_xref="HGNC:20984"
                     /db_xref="MIM:609768"
     exon            1..108
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    54..239
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="COORDINATES:
                     alignment:Blast2seq::RefSeq|NM_173809.4"
                     /note="primary ORF has stop codon >50 nucleotides from the
                     terminal splice site; nonsense-mediated mRNA decay (NMD)
                     candidate"
     exon            109..225
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     exon            226..333
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     exon            334..453
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     variation       389
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11555258"
     exon            454..558
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     exon            559..2774
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /inference="alignment:Splign:1.39.8"
     variation       616
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200508104"
     variation       1351
                     /gene="BLOC1S2"
                     /gene_synonym="BLOS2; RP11-316M21.4"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3180413"
ORIGIN

acacccagtgcgcatgcgcagcaccccggcccggaaacagcgcggggtccgctatggcggcggcagccgagggcgtactggcgacccggagtgatgagcccgcccgagacgatgccgccgtggagacagctgaggaagcaaaggagcctgctgaagctgacatcactgagctctgccgggacatgttctccaaaatggccacttacctgactggggaactgacggagctcagagattgatcagagcacaagaaacagatttcggagtcactttcgtagtggtgtgattggacgctgtgcaggatgagattgccaaggaagagcttagaagtagccaccagtgaagactataagctcctggaaaatatgaataaactcaccagcttgaagtatcttgaaatgaaagatattgctataaacattagtaggaacttaaaggacttaaaccagaaatatgctggactgcagccttatctggatcagatcaatgtcattgaagagcaggtagcagctcttgagcaggcagcttacaagttggatgcatattcaaaaaaactggaagccaagtacaagaagctggagaagcgatgagaaacttatttctatgggacagagtcttttttttttaatgtggaagaatgtcttataaaacctgaatcctgaggctgatgaattgtgaaaattcctcaaaaggaaattatgctggtcatcacaggaacatctcaacgttcgagtaaactggaggactgtggctattcctgaaccttctttgagacagaatccctcagaatctcacacttataacttcctaccttttacttgaatgctttgccatattcaggacagagactctcacaaagttcagaaaacagctggacttaccagtaaaatcaaatgagaggacctattttctctggtagtggttgattactacattattttcttaagtggctggttttttagttactatgtaaatggtcgtttttctgttaatgatgctaatgtgttgtaaacaagattctaaatttaaaaaggaaaacaaaacaaacttgttctttgcagcttatcaccttgtgaatgtcggtaacttacttttccataatattgcaaataacataaaatcttaaaataattccaagctgagtcttctagattgagcagaaatggtgaaaggagtattgataacttggcgtatgtgatgggcccctcttgtttattttctatgtgagtcacattgacatgcgatcagtttgggaaatgtgatgaaaacaaagactagatgggtatgtgtgtttatgtgttgggtagggaggtgacgattgccactcataaaataaaggattttataaaataccttcctactgtgtatgtaggatttggggggatcttagggacctaatcgacttctttgcacactaaaaacatcagacaatgggacatactgactgaccagtctaggttgaaagataggcagccttacccagaacacaacattagcagctgggaaggtgtctgaggtccccaattacatatcccaaagagtttcttacttctgtttctgtcatttcccctctgttccagacagtcatcatttatcctctgttcttcctggactgttgctgtggtctcttctcatcttaactgtcccttccaaccaccctccacactgctgccagagcaatcttaaaaatgtaaactggccctattactcctgcttagaaccctgtagtgacttatcatggcctctgaaaaatctagactttcattatgcatacaagtcccttgtgtttttttgtttgtttatagacagggtctctattgtcacccaggctggagtgtggtggtgtgataatagctcaccttgacctcctaggctcaactgatcttcccacctcagcctcctgaatagctgggactaccagcacgctccaccatgccttgctaattattttttatacagatggagtctcactatgttgtccaggctggtcttgaactggcctcaagtgattctcttaccacagcctgccagagtgctgagattgtaggcatgaaccaccgtgcctaacataaggcccctatttaaacatttttcttaaataaaaaacaaaagaattaaactgtaactctactatcttaacatagaatcagtcttaccccttcttccaacccttttccttttccgtgcatgtattgatctattttttttttttttttgagatgaagtcttgctctgtcgcctgggctggagtgcagtggtgcgatcttagctcactgcaacctctgtttcctgggttcaagcgattctcctgcctcagcctcccgagtagttgagatttacaggtgcccaccaccatgccaggctaatttttgtatttttagtagagacggggtttcaccatgttggccaggctggtctcgaactcctgaccccaaatgatccacccacctcggcctcccaaagtgctgggattacaggtgtgagccaccgcacccagccatgttgatctatttttaaaaagtttttatttcctgttacactgtgttcagctatcttcagccaccttaaattcccatggatgagttttcataaactttttgaaaatagatttagatttacgggaaagttgcaaagataatacagaatttaatggatgagtttttttattgatgtgtaatagatgtatgtattttcagagtacaagtgataatttaatacatgtatataatgtgtaaatattaaatcaagagttattgggatgtccttcaccttaaaaaaaaaaaaaaa

//

Annotations: