LOCUS       NM_012388               3778 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6
            (BLOC1S6), transcript variant 2, mRNA.
ACCESSION   NM_012388
VERSION     NM_012388.4
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 3778)
  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 3778)
  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 3778)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3778)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 3778)
  AUTHORS   Mao,G.F., Goldfinger,L.E., Fan,D.C., Lambert,M.P., Jalagadugula,G.,
            Freishtat,R. and Rao,A.K.
  TITLE     Dysregulation of PLDN (pallidin) is a mechanism for platelet dense
            granule deficiency in RUNX1 haplodeficiency
  JOURNAL   J Thromb Haemost 15 (4), 792-801 (2017)
   PUBMED   28075530
  REMARK    GeneRIF: PLDN is a direct target of RUNX1 and its dysregulation is
            a mechanism for platelet dense granule deficiency associated with
            RUNX1 haplodeficiency
REFERENCE   6  (bases 1 to 3778)
  AUTHORS   Huang,L., Kuo,Y.M. and Gitschier,J.
  TITLE     The pallid gene encodes a novel, syntaxin 13-interacting protein
            involved in platelet storage pool deficiency
  JOURNAL   Nat Genet 23 (3), 329-332 (1999)
   PUBMED   10610180
REFERENCE   7  (bases 1 to 3778)
  AUTHORS   Risinger,M.A., Korsgren,C. and Cohen,C.M.
  TITLE     Role of N-myristylation in targeting of band 4.2 (pallidin) in
            nonerythroid cells
  JOURNAL   Exp Cell Res 229 (2), 421-431 (1996)
   PUBMED   8986625
REFERENCE   8  (bases 1 to 3778)
  AUTHORS   Azim,A.C., Marfatia,S.M., Korsgren,C., Dotimas,E., Cohen,C.M. and
            Chishti,A.H.
  TITLE     Human erythrocyte dematin and protein 4.2 (pallidin) are ATP
            binding proteins
  JOURNAL   Biochemistry 35 (9), 3001-3006 (1996)
   PUBMED   8608138
REFERENCE   9  (bases 1 to 3778)
  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
REFERENCE   10 (bases 1 to 3778)
  AUTHORS   Korsgren,C. and Cohen,C.M.
  TITLE     Associations of human erythrocyte band 4.2. Binding to ankyrin and
            to the cytoplasmic domain of band 3
  JOURNAL   J Biol Chem 263 (21), 10212-10218 (1988)
   PUBMED   2968981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF080470.1, AK128626.1 and
            BC026289.1.
            
            On Dec 4, 2019 this sequence version replaced NM_012388.3.
            
            Summary: The protein encoded by this gene may play a role in
            intracellular vesicle trafficking. It interacts with Syntaxin 13
            which mediates intracellular membrane fusion. Mutations in this
            gene cause symptoms associated with Hermansky-Pudlak syndrome-9.
            Alternative splicing results in multiple transcript variants. A
            pseudogene related to this gene is located on the X chromosome.
            [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region and initiates translation at an alternate start
            codon, compared to variant 1. It encodes isoform 2, which has a
            shorter and distinct N-terminus, compared to 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 :: SRR7346977.2015474.1,
                                           SRR11853562.11170.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220531.9/ ENSP00000220531.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-596               AF080470.1         161-756
            597-3249            AK128626.1         830-3482
            3250-3778           BC026289.1         1762-2290
FEATURES             Location/Qualifiers
     source          1..3778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..3778
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /note="biogenesis of lysosomal organelles complex 1
                     subunit 6"
                     /db_xref="GeneID:26258"
                     /db_xref="HGNC:HGNC:8549"
                     /db_xref="MIM:604310"
     exon            1..147
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..584
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /note="isoform 2 is encoded by transcript variant 2;
                     syntaxin 13-interacting protein pallid; biogenesis of
                     lysosomal organelles complex-1, subunit 6, pallidin;
                     syntaxin 13 binding protein 1; pallid protein homolog;
                     biogenesis of lysosomal organelles complex-1, subunit 5,
                     pallidin; BLOC-1 subunit 6; biogenesis of lysosome-related
                     organelles complex 1 subunit 6; BLOC-1 subunit pallidin"
                     /codon_start=1
                     /product="biogenesis of lysosome-related organelles
                     complex 1 subunit 6 isoform 2"
                     /protein_id="NP_036520.1"
                     /db_xref="CCDS:CCDS10126.1"
                     /db_xref="GeneID:26258"
                     /db_xref="HGNC:HGNC:8549"
                     /db_xref="MIM:604310"
                     /translation="MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTI
                     EDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDIN
                     ALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFER
                     EKQLTARPAKRM"
     exon            148..289
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /inference="alignment:Splign:2.1.0"
     exon            290..377
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /inference="alignment:Splign:2.1.0"
     exon            378..464
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /inference="alignment:Splign:2.1.0"
     exon            465..3778
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3759..3764
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /note="hexamer: AATAAA"
     polyA_site      3778
                     /gene="BLOC1S6"
                     /gene_synonym="BLOS6; HPS9; PA; PALLID; PLDN"
                     /note="major polyA site"
ORIGIN      
        1 aggtgccgcc ttgcttctga cgagccacac gtttgcttct tccctgtgtt cccagctgga
       61 gggacatgag tgtccctggg ccgtcgtctc cggacggggc cctgacacgg ccaccctact
      121 gcctggaggc cggggagccg acgcctggtt taagtgacac ttctccagat gaagggttaa
      181 tagaggactt gactatagaa gacaaagcag tggagcaact ggcagaagga ttgctttctc
      241 attatttgcc agatctgcag agatcaaaac aagccctcca ggaactcaca cagaaccaag
      301 ttgtattgtt agacacactg gaacaagaga tttcaaaatt taaagaatgt cattctatgt
      361 tggatattaa tgctttgttt gctgaggcta aacactatca tgccaagttg gtgaatataa
      421 gaaaagagat gctgatgctt catgaaaaaa catcaaagtt aaaaaaaaga gcacttaaac
      481 tgcagcagaa gaggcaaaaa gaagagttgg aaagggagca gcaacgagag aaggagtttg
      541 aaagagaaaa gcagttaact gccagaccag ccaaaaggat gtgaaaagtt gtgtttgtgt
      601 gttttcttct cctgtcccat atttgggtta tgatgactca agtgtagact gaagttgagg
      661 tagtgcctta tgccattatg tcatatgttg aaatccttat tccggtatta ctgtgtctcc
      721 atgccttttt tccaagtagc agacgtcatg ttgcatggtt tttgatattt atatgtaagt
      781 ttttcaaatt ttgcttaatt ttaaaattta ttattttgat cttgaattat ttataaactg
      841 gaaagtggtt tgattattgt gagtcaaaac tctaagtggt taaaaattag tatgaatttt
      901 ttagcttctt aatgaatatg gatttaaaac tctccagttc ttattttatg aaatgacttg
      961 cctttctggt aatacaatgc tgatttttta gtaattgcct tttcattact ttgttaagaa
     1021 gaaatgccag ctgtttaatc acacctaccc ctggaaaaga ggtaaacctt ttgaacagtt
     1081 gaatttcatc agaagctcta tagctttttg gtgagaggaa gtgatactct ttattacaag
     1141 aaacaaggaa ttaacaaaaa taaggaactt gttgctacct ttcttttctg ttgaacatta
     1201 aaaataattt ggtttgtgga ctgggcatgg tggcttatgg aaaagaggtg agcctttgtg
     1261 aagaacataa tggaaaagtg catgtacggg aaataacagc actttaggtg tagttcaggt
     1321 gagcaagatg ccagatagtt tctactaacc atatactctt tctgcttctt agcgtcgttg
     1381 tcactgcttc tgtggctttt gggttcaaag tagattatat atattcctaa agcttggtgg
     1441 aggtagtgga gctatcacac actcaaatga gcttgtatat ttataataca atatagtatt
     1501 atagtaacag ttatcataca ctgagatata gtttctgtgc ttgtaaaaaa ttcttgaagt
     1561 gaggccgggt gcggtggctc atgcctgtaa tcccaacgct ttgggacgcc gaggcgggtg
     1621 gatcatgagg tcaaaagatt gagaccatcc tggccaacat ggtgaaaccc cgtctctact
     1681 agaaatacaa aaattagctg ggtgtggggg cgtgcgcctg tagtcccagc tacttgggag
     1741 gctgaggcag gagaattgct tgaacccagg aggcagaggt tgcagtaagc caagatcgtg
     1801 ccactgcact ccagccttgg tgacagagca agactccgtc tccaaaaaaa agaaaaaaaa
     1861 atttcttgaa gtggaatgat gtacaccaaa tacccacttt atagataatt acagggatgg
     1921 tgaaaaatta gtaaatagct tcacaaaaga ggcagcgtga tacctttagt gttttctaga
     1981 atttttttct ggatattata tgtaagaatt tattgtttga gggaaatacg aggtttcatt
     2041 gtttaaaatc aagagtgtat tgtttactgt tttacagtat tatttaatat ccaactggtc
     2101 tccaatctcc attacatagg gactgtacag agcctgtgaa gatgtatgaa tggtatcttt
     2161 tataatccac aatacatttc tggtaagatg gaatcactac ctctgatcac atatcaggct
     2221 aacgatagag aaagcattag gtttaagttg agggctaaga actggtttgt ttaaaggttt
     2281 aaattgttgg aaaagagcat ttgccttctt taatgaatga tggtctcaca attcagttga
     2341 ctttgaccta atatttaaga atataaatat attttatttg aaaggctgag tgttgccctc
     2401 aaacacttgc taaaactgcc tagggcagga ttcattaggg cttgcagaca atgtcaccta
     2461 aattgctgaa tgtactcatt ataatatgat atctgacaaa ggtagtacag cgtttctgag
     2521 tcatttggga ccaactgcag tggttgttta aaatgctggt tcctgcacac aattctctat
     2581 ctactgaagc acatctgttt tctttgtttg ttttgctttg ctttttgttt ttaaagtttc
     2641 ccccagtgat tccagtgcac ctgaaaagtt gagaaccaca ggcttagtgg tacgttgggg
     2701 tttcccacgc taggctgcat agcattataa cctgggaacg ttaaaaaaaa tacagacatt
     2761 cttgattctt agtgtagtta tgatgtggat cctacgtatt ttttaaaaaa ctctccagat
     2821 aattttgatg tcacgagtca ctagtataga ctatctatct agtgagttgt attataagcg
     2881 atgaaatact ttaaaagcta cccagtaact cttgggatta attttatgaa ataaattctg
     2941 agctgctgct tttgatatag tcagacttaa gactgaaccc cagtagacag gcaatagata
     3001 tagaattctg gttagctaat tgaacttttg tgacctgttt aaaaacaaat caaatttatt
     3061 gaacaaatga caaggcacaa atactttcag aattgtattt cagttttgaa gatttaaaaa
     3121 aaatgtgaaa ataaatatat attagtatcc tttattttaa agtcaattgt aaaccagaag
     3181 tactgttatt ttggtgatta aaatccaaaa ctttagctgt atttcagtaa caaaaacata
     3241 ccttactaga ctgtgatggc tcacacctgt aatcccagtg ctttgggagg ctgaggtggg
     3301 aagattcttt gagcccagga gttcaaggct gcagtgaatt ctgatcgcac cactgaactc
     3361 cagcccgtat gacagagtga gaccctgttt ctaaaaacaa aacaaacaaa caaacaaaca
     3421 acgtatctta ctgactaaac tggaatggaa atcttataat tagtgttgta tttttctgca
     3481 aaatagtgaa ttggtacttg ggagacttct gttctttgtt gaaaaaaatt gcctttgttt
     3541 tgaaattata tcacctgtgt tctgaactaa aatgatggga gttcattttg tatttacttt
     3601 gcagtaagta tcatgtaaat atgcaaatgt tgaatgtaat atagattgtg tcctcattga
     3661 gtttttgggt gatacagttt ataaatataa caattataca ccctcataca ttcgtctgat
     3721 tttgagcttg taagatgaga actgcttttt acacatttaa taaaaaaagg tctctgaa
//
