LOCUS       NM_018366               1491 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 4
            (BLOC1S4), mRNA.
ACCESSION   NM_018366
VERSION     NM_018366.3
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 1491)
  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 1491)
  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   3  (bases 1 to 1491)
  AUTHORS   Huang,Z.M., Chinen,M., Chang,P.J., Xie,T., Zhong,L., Demetriou,S.,
            Patel,M.P., Scherzer,R., Sviderskaya,E.V., Bennett,D.C.,
            Millhauser,G.L., Oh,D.H., Cleaver,J.E. and Wei,M.L.
  TITLE     Targeting protein-trafficking pathways alters melanoma treatment
            sensitivity
  JOURNAL   Proc Natl Acad Sci U S A 109 (2), 553-558 (2012)
   PUBMED   22203954
  REMARK    GeneRIF: Melanoma cells depleted of cappuccino protein have
            increased nuclear localization of cis-diaminedichloroplatinum II,
            increased nuclear DNA damage by platination, and increased
            apoptosis, resulting in increased treatment sensitivity.
REFERENCE   4  (bases 1 to 1491)
  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
REFERENCE   5  (bases 1 to 1491)
  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   6  (bases 1 to 1491)
  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 1491)
  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 1491)
  AUTHORS   Gwynn,B., Ciciotte,S.L., Hunter,S.J., Washburn,L.L., Smith,R.S.,
            Andersen,S.G., Swank,R.T., Dell'Angelica,E.C., Bonifacino,J.S.,
            Eicher,E.M. and Peters,L.L.
  TITLE     Defects in the cappuccino (cno) gene on mouse chromosome 5 and
            human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent
            mechanism
  JOURNAL   Blood 96 (13), 4227-4235 (2000)
   PUBMED   11110696
REFERENCE   9  (bases 1 to 1491)
  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   10 (bases 1 to 1491)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK002092.1, BC001818.2,
            AI679712.1 and AC093323.3.
            
            On May 17, 2019 this sequence version replaced NM_018366.2.
            
            Summary: This intronless gene encodes a protein that may play a
            role in organelle biogenesis associated with melanosomes, platelet
            dense granules, and lysosomes. A similar protein in mouse is a
            component of a protein complex termed biogenesis of
            lysosome-related organelles complex 1 (BLOC-1), and is a model for
            Hermansky-Pudlak syndrome. The encoded protein may play a role in
            intracellular vesicular trafficking. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC067815.1, ERR279848.6889.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320776.5/ ENSP00000318128.3
            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
            1-50                AK002092.1         60-109
            51-240              BC001818.2         45-234
            241-1240            AK002092.1         300-1299
            1241-1487           AI679712.1         1-247               c
            1488-1491           AC093323.3         184584-184587
FEATURES             Location/Qualifiers
     source          1..1491
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..1491
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 4"
                     /db_xref="GeneID:55330"
                     /db_xref="HGNC:HGNC:24206"
                     /db_xref="MIM:605695"
     exon            1..1491
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..690
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="protein cappuccino homolog; BLOC-1 subunit 4;
                     biogenesis of lysosomal organelles complex-1, subunit 4,
                     cappuccino"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 4"
                     /protein_id="NP_060836.1"
                     /db_xref="CCDS:CCDS3393.1"
                     /db_xref="GeneID:55330"
                     /db_xref="HGNC:HGNC:24206"
                     /db_xref="MIM:605695"
                     /translation="MEGSFSDGGALPEGLAEEAEPQGAAWSGDSGTVSQSHSSASGPW
                     EDEGAEDGAPGRDLPLLRRAAAGYAACLLPGAGARPEVEALDASLEDLLTRVDEFVGM
                     LDMLRGDSSHVVSEGVPRIHAKAAEMRRIYSRIDRLEAFVRMVGGRVARMEEQVTKAE
                     AELGTFPRAFKKLLHTMNVPSLFSKSAPSRPQQAGYEAPVLFRTEDYFPCCSERPQL"
     regulatory      1166..1171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="hexamer: ATTAAA"
     polyA_site      1191
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="major polyA site"
     regulatory      1302..1307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="hexamer: AATATA"
     polyA_site      1347
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
     regulatory      1448..1453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
                     /note="hexamer: AATAGA"
     polyA_site      1455
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
     polyA_site      1491
                     /gene="BLOC1S4"
                     /gene_synonym="BCAS4L; BLOS4; CNO"
ORIGIN      
        1 ggaagcgagc gctgcgcagt cgggtggtcg cgggccatgg agggtagctt ttcggatggc
       61 ggagcgctgc cggaggggct cgcggaagag gccgagccgc agggcgccgc ctggagcggg
      121 gacagtggca ctgtttccca gagccacagc agcgcctcgg ggccgtggga ggacgagggc
      181 gcggaggacg gcgcgccggg ccgcgacctg ccgctgcttc gccgcgccgc tgcgggctac
      241 gccgcctgcc tgctgcccgg ggccggggcg cggcccgagg tcgaggccct ggacgcgagc
      301 ctagaggacc tgcttaccag agtggacgag ttcgtgggca tgctggacat gcttcgcggc
      361 gactcgtccc acgtcgtcag cgagggcgtg ccgcgcatcc acgcgaaggc cgccgagatg
      421 cggcgcatct acagcaggat cgaccggctg gaggccttcg tgaggatggt ggggggccgc
      481 gtggccagga tggaggagca ggtcaccaag gccgaggccg agctgggcac cttccccagg
      541 gcgttcaaga agctcctgca cacgatgaac gtgccctcgc tctttagcaa gtctgctccc
      601 tcgaggccac agcaagccgg ctacgaagcc cccgtcctgt ttcggaccga agactacttc
      661 ccttgttgca gtgaaaggcc tcagctctga cggcctgacc actgcggcaa gaggacccca
      721 gctggggtgc ttacctccag tatgaagtga attgcaaatc ctgcttatgg acatatatga
      781 tgttggagtg tgggatttta aagtttactt tctacaaact ctccgtagta tattcatgat
      841 tcagtgtaga atgtatagac tttatgtctt ccaagtttaa aaaaagagac agggtcttgg
      901 tatgttgccc agactgttcg gaaactcctg ggctcaagtg atccttccac ctcagcctcc
      961 ccagtagctg ggactacggg gtcgccactg cacccagcct gtgtcttcca gctctaatca
     1021 gaaagctgct tgtcgagggc atggggaatc aaactgaatg aacttttctc tgcactgtgg
     1081 caaaactgtt atttttatgg attttactaa atggcgttac cttttcaaga tttatatgtt
     1141 tgtataatca taagaaaatt gagccattaa agccttgtta ttcaatccta atagtcagtt
     1201 ttctagaacc tacttttagg gtaaatggta cattatttaa tattatatta aacctcctat
     1261 agcgtggatt gtagaccaaa ggaaatggta caatttctga gaatatatgt tgattttttg
     1321 tgactaattc caaagttgta tttgaaagta tgacctcaca gtcttcattt gtccatagca
     1381 aacatatgtg tgtgtgtgtg tatatatata tgtgggttgc caatgtttgg tttataattt
     1441 aaatgttaat agaaattttg agttttattg gaaatgattt ccttctgaaa a
//
