LOCUS       NM_001487                562 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 1
            (BLOC1S1), transcript variant 1, mRNA.
ACCESSION   NM_001487
VERSION     NM_001487.4
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 562)
  AUTHORS   Bugga,P., Manning,J.R., Mushala,B.A.S., Stoner,M.W., Sembrat,J. and
            Scott,I.
  TITLE     GCN5L1-mediated acetylation prevents Rictor degradation in cardiac
            cells after hypoxic stress
  JOURNAL   Cell Signal 116, 111065 (2024)
   PUBMED   38281616
  REMARK    GeneRIF: GCN5L1-mediated acetylation prevents Rictor degradation in
            cardiac cells after hypoxic stress.
REFERENCE   2  (bases 1 to 562)
  AUTHORS   Wu,K., Zou,J. and Sack,M.N.
  TITLE     The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic
            lysosomal content and lysosomal lipolysis
  JOURNAL   Biochem Biophys Res Commun 642, 1-10 (2023)
   PUBMED   36535215
  REMARK    GeneRIF: The endo-lysosomal regulatory protein BLOC1S1 modulates
            hepatic lysosomal content and lysosomal lipolysis.
REFERENCE   3  (bases 1 to 562)
  AUTHORS   Zhang,T., Cui,Y., Wu,Y., Meng,J., Han,L., Zhang,J., Zhang,C.,
            Yang,C., Chen,L., Bai,X., Zhang,K., Wu,K., Sack,M.N., Wang,L. and
            Zhu,L.
  TITLE     Mitochondrial GCN5L1 regulates glutaminase acetylation and
            hepatocellular carcinoma
  JOURNAL   Clin Transl Med 12 (5), e852 (2022)
   PUBMED   35538890
  REMARK    GeneRIF: Mitochondrial GCN5L1 regulates glutaminase acetylation and
            hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 562)
  AUTHORS   Bowman,S.L., Le,L., Zhu,Y., Harper,D.C., Sitaram,A., Theos,A.C.,
            Sviderskaya,E.V., Bennett,D.C., Raposo-Benedetti,G., Owen,D.J.,
            Dennis,M.K. and Marks,M.S.
  TITLE     A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into
            endosome-derived tubular transport carriers
  JOURNAL   J Cell Biol 220 (7) (2021)
   PUBMED   33886957
  REMARK    GeneRIF: A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into
            endosome-derived tubular transport carriers.
REFERENCE   5  (bases 1 to 562)
  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   6  (bases 1 to 562)
  AUTHORS   Kurooka,H. and Honjo,T.
  TITLE     Functional interaction between the mouse notch1 intracellular
            region and histone acetyltransferases PCAF and GCN5
  JOURNAL   J Biol Chem 275 (22), 17211-17220 (2000)
   PUBMED   10747963
REFERENCE   7  (bases 1 to 562)
  AUTHORS   McMahon,S.B., Wood,M.A. and Cole,M.D.
  TITLE     The essential cofactor TRRAP recruits the histone acetyltransferase
            hGCN5 to c-Myc
  JOURNAL   Mol Cell Biol 20 (2), 556-562 (2000)
   PUBMED   10611234
REFERENCE   8  (bases 1 to 562)
  AUTHORS   Ogryzko,V.V., Kotani,T., Zhang,X., Schiltz,R.L., Howard,T.,
            Yang,X.J., Howard,B.H., Qin,J. and Nakatani,Y.
  TITLE     Histone-like TAFs within the PCAF histone acetylase complex
  JOURNAL   Cell 94 (1), 35-44 (1998)
   PUBMED   9674425
REFERENCE   9  (bases 1 to 562)
  AUTHORS   Inoue,M., Isomura,M., Ikegawa,S., Fujiwara,T., Shin,S., Moriya,H.
            and Nakamura,Y.
  TITLE     Isolation and characterization of a human cDNA clone (GCN5L1)
            homologous to GCN5, a yeast transcription activator
  JOURNAL   Cytogenet Cell Genet 73 (1-2), 134-136 (1996)
   PUBMED   8646881
REFERENCE   10 (bases 1 to 562)
  AUTHORS   Watanabe,T.K., Fujiwara,T., Shinomiya,H., Kuga,Y., Hishigaki,H.,
            Nakamura,Y. and Hirai,Y.
  TITLE     Molecular cloning of a novel human cDNA, RT14, containing a
            putative ORF highly conserved between human, fruit fly, and
            nematode
  JOURNAL   DNA Res 2 (5), 235-237 (1995)
   PUBMED   8770567
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC009779.18.
            
            On Feb 23, 2021 this sequence version replaced NM_001487.3.
            
            Summary: BLOC1S1 is a component of the ubiquitously expressed BLOC1
            multisubunit protein complex. BLOC1 is required for normal
            biogenesis of specialized organelles of the endosomal-lysosomal
            system, such as melanosomes and platelet dense granules (Starcevic
            and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (1) encodes the supported protein.
            
            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 :: CN263522.1, CB110255.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000548925.6/ ENSP00000447537.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-151               AC009779.18        21002-21152         c
            152-224             AC009779.18        20193-20265         c
            225-357             AC009779.18        17975-18107         c
            358-562             AC009779.18        17495-17699         c
FEATURES             Location/Qualifiers
     source          1..562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..562
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 1"
                     /db_xref="GeneID:2647"
                     /db_xref="HGNC:HGNC:4200"
                     /db_xref="MIM:601444"
     exon            1..151
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..468
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /note="GCN5 (general control of amino-acid synthesis,
                     yeast, homolog)-like 1; MTA1-interacting coactivator;
                     protein acetyltransferase BLOC1S1; BLOC-1 subunit 1;
                     GCN5-like protein 1; GCN5 general control of amino-acid
                     synthesis 5-like 1"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 1"
                     /protein_id="NP_001478.2"
                     /db_xref="CCDS:CCDS8889.2"
                     /db_xref="GeneID:2647"
                     /db_xref="HGNC:HGNC:4200"
                     /db_xref="MIM:601444"
                     /translation="MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNER
                     KELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQT
                     GQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQSAPS"
     exon            152..224
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /inference="alignment:Splign:2.1.0"
     exon            225..357
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /inference="alignment:Splign:2.1.0"
     exon            358..562
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      542..547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /note="hexamer: AATAAA"
     polyA_site      562
                     /gene="BLOC1S1"
                     /gene_synonym="BLOS1; BORCS1; GCN5L1; MICoA; RT14"
                     /note="major polyA site"
ORIGIN      
        1 cgtgacatgg ccccggggag ccgaggtgag cgttccagct tccggagccg gagggggccc
       61 ggcgtaccca gcccccagcc cgacgtgacc atgctgtccc gcctcctaaa agaacaccag
      121 gccaagcaga atgaacgcaa ggagctgcag gaaaagagga ggcgagaggc tatcactgca
      181 gcgacctgcc tgacagaagc tttggtggat cacctcaatg tgggtgtggc ccaggcctac
      241 atgaaccaga gaaagctgga ccatgaggtg aagaccctac aggtccaggc tgcccaattt
      301 gccaagcaga caggccagtg gatcggaatg gtggagaact tcaaccaggc actcaaggaa
      361 attggggatg tggagaactg ggctcggagc atcgagctgg acatgcgcac cattgccact
      421 gcactggaat atgtctacaa agggcagctg cagtctgccc cttcctagcc cctgttccct
      481 cccccaaccc tatccctcct acctcacccg cagggggaag gagggaggct gacaagcctt
      541 gaataaaaca caagcctccg tt
//
