LOCUS       NM_024747               2688 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens HPS6 biogenesis of lysosomal organelles complex 2
            subunit 3 (HPS6), mRNA.
ACCESSION   NM_024747
VERSION     NM_024747.6
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 2688)
  AUTHORS   Zhou,B., Yang,J., Bai,Y., Li,Y., Chen,S., Chen,X., Zhang,N.,
            Cao,Z., Zhu,Y. and Xu,Y.
  TITLE     Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of
            2 Cases and the Profile of HPS6 Variants
  JOURNAL   Ophthalmic Res 67 (1), 62-75 (2024)
   PUBMED   38091959
  REMARK    GeneRIF: Novel Variants of HPS6 Cause Suspected Ocular Albinism: A
            Report of 2 Cases and the Profile of HPS6 Variants.
REFERENCE   2  (bases 1 to 2688)
  AUTHORS   Wang,C., Shi,P., Li,Q., Chen,C., Zhao,X., Zhang,R. and Kong,X.
  TITLE     Hermansky-Pudlak syndrome: Five Chinese patients with novel
            variants in HPS1 and HPS6
  JOURNAL   Eur J Med Genet 64 (6), 104228 (2021)
   PUBMED   33878481
  REMARK    GeneRIF: Hermansky-Pudlak syndrome: Five Chinese patients with
            novel variants in HPS1 and HPS6.
REFERENCE   3  (bases 1 to 2688)
  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   4  (bases 1 to 2688)
  AUTHORS   Han,C.G., O'Brien,K.J., Coon,L.M., Majerus,J.A., Huryn,L.A.,
            Haroutunian,S.G., Moka,N., Introne,W.J., Macnamara,E., Gahl,W.A.,
            Malicdan,M.C.V., Chen,D., Krishnan,K. and Gochuico,B.R.
  TITLE     Severe bleeding with subclinical oculocutaneous albinism in a
            patient with a novel HPS6 missense variant
  JOURNAL   Am J Med Genet A 176 (12), 2819-2823 (2018)
   PUBMED   30369044
  REMARK    GeneRIF: we report a novel homozygous c.383 T > C missense variant
            in HPS6 associated with low cellular levels of HPS6 mRNA and
            protein in an individual with subclinical oculocutaneous albinism
            and a history of severe bleeding
REFERENCE   5  (bases 1 to 2688)
  AUTHORS   Andres,O., Wiegering,V., Konig,E.M., Schneider,A.L., Semeniak,D.,
            Stritt,S., Klopocki,E. and Schulze,H.
  TITLE     A novel two-nucleotide deletion in HPS6 affects mepacrine uptake
            and platelet dense granule secretion in a family with
            Hermansky-Pudlak syndrome
  JOURNAL   Pediatr Blood Cancer 64 (5) (2017)
   PUBMED   27917594
  REMARK    GeneRIF: the novel loss-of-function variant in the HPS6 subunit of
            biogenesis of lysosome-related organelles complex 2 is pathologic
            and leads to a reduced platelet dense granules and their release.
            The findings are compatible with an impaired platelet function and
            hence an enhanced bleeding risk.
REFERENCE   6  (bases 1 to 2688)
  AUTHORS   Huizing,M., Pederson,B., Hess,R.A., Griffin,A., Helip-Wooley,A.,
            Westbroek,W., Dorward,H., O'Brien,K.J., Golas,G., Tsilou,E.,
            White,J.G. and Gahl,W.A.
  TITLE     Clinical and cellular characterisation of Hermansky-Pudlak syndrome
            type 6
  JOURNAL   J Med Genet 46 (12), 803-810 (2009)
   PUBMED   19843503
  REMARK    GeneRIF: Molecular studies showed a variety of mutations in the
            single exon HPS6 gene, including frame shift, missense, and
            nonsense mutations as well as a approximately 20 kb deletion
            spanning the entire HPS6 genomic region.
REFERENCE   7  (bases 1 to 2688)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2688)
  AUTHORS   Di Pietro,S.M., Falcon-Perez,J.M. and Dell'Angelica,E.C.
  TITLE     Characterization of BLOC-2, a complex containing the
            Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
  JOURNAL   Traffic 5 (4), 276-283 (2004)
   PUBMED   15030569
  REMARK    GeneRIF: Component of BLOC-2.  Results suggest a common biological
            basis underlying the pathogenesis of HPS-3, -5 and -6 disease.
REFERENCE   9  (bases 1 to 2688)
  AUTHORS   Zhang,Q., Zhao,B., Li,W., Oiso,N., Novak,E.K., Rusiniak,M.E.,
            Gautam,R., Chintala,S., O'Brien,E.P., Zhang,Y., Roe,B.A.,
            Elliott,R.W., Eicher,E.M., Liang,P., Kratz,C., Legius,E.,
            Spritz,R.A., O'Sullivan,T.N., Copeland,N.G., Jenkins,N.A. and
            Swank,R.T.
  TITLE     Ru2 and Ru encode mouse orthologs of the genes mutated in human
            Hermansky-Pudlak syndrome types 5 and 6
  JOURNAL   Nat Genet 33 (2), 145-153 (2003)
   PUBMED   12548288
REFERENCE   10 (bases 1 to 2688)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL500527.19, BI761726.1 and
            BC011594.1.
            
            On Aug 31, 2019 this sequence version replaced NM_024747.5.
            
            Summary: This intronless gene encodes a protein that may play a
            role in organelle biogenesis associated with melanosomes, platelet
            dense granules, and lysosomes. This protein interacts with
            Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are
            associated with Hermansky-Pudlak syndrome type 6. [provided by
            RefSeq, Jul 2008].
            
            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 is intronless :: AF536238.1, BC011594.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299238.7/ ENSP00000299238.5
            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
            1-18                AL500527.19        7106-7123
            19-53               BI761726.1         1-35
            54-2688             BC011594.1         1-2635
FEATURES             Location/Qualifiers
     source          1..2688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..2688
                     /gene="HPS6"
                     /gene_synonym="BLOC2S3"
                     /note="HPS6 biogenesis of lysosomal organelles complex 2
                     subunit 3"
                     /db_xref="GeneID:79803"
                     /db_xref="HGNC:HGNC:18817"
                     /db_xref="MIM:607522"
     exon            1..2688
                     /gene="HPS6"
                     /gene_synonym="BLOC2S3"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..2454
                     /gene="HPS6"
                     /gene_synonym="BLOC2S3"
                     /note="Hermansky-Pudlak syndrome-6 protein (HPS6);
                     ruby-eye protein homolog"
                     /codon_start=1
                     /product="BLOC-2 complex member HPS6"
                     /protein_id="NP_079023.2"
                     /db_xref="CCDS:CCDS7527.1"
                     /db_xref="GeneID:79803"
                     /db_xref="HGNC:HGNC:18817"
                     /db_xref="MIM:607522"
                     /translation="MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLL
                     LLRPPGAVAPQLLVASRGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAE
                     VWGAGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFS
                     HCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLI
                     WSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPT
                     PQGLLLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSAALGTFQGTLACVLGSTLEL
                     LDMGSGQLLERKVLSTDRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQ
                     GVELPSAKDLVFEEACGYYQRRSLRGAQLTPEELRHSSTFRAPQALASILQGHLPPSA
                     LLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELIGDQLAQLNT
                     VFQALPTAAWGATLRALQLQLDGNGKLRSQAPPDVWKKVLGGITAGKEPPNGILPPFE
                     LLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGPGLPLYRRALAVLGEEGTRPEALEL
                     ELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALGPSSPLLRSEIFKLLLAEFAQHR
                     RLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPTPFPEPGAEPPLTVGLLKALL
                     EQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL"
     regulatory      2667..2672
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS6"
                     /gene_synonym="BLOC2S3"
                     /note="hexamer: AATATA"
     polyA_site      2688
                     /gene="HPS6"
                     /gene_synonym="BLOC2S3"
                     /note="major polyA site"
ORIGIN      
        1 ctctgctcac ctcatccacg ggagacggaa gtcttggccc tgctccgctc ccccgagaat
       61 cgggcctcgc cctgctgggc ggctggacct gggcaaagcc tgggcgcgct cccgcgcagc
      121 ggcgccatga agcgctcggg gactctgcgg ctgctctcgg acctgagcgc cttcggcggc
      181 gcggcgcggc tccgggagct ggtggccggg gactcagcgg tccgagtccg tggcagtccg
      241 gacggccgcc acttgctgct cctgcgaccc cctggggcgg tagccccaca gctgctagtc
      301 gcgtcgcgag ggcccggcgc ggagctagag cgggcctggc cggccggcca gccctccccg
      361 ctggacgcct tcttcctgcc gtggccagcg cggccggcgc tggtgctggt gtgggagagt
      421 ggcctggccg aggtgtgggg cgcgggcgtg gggcctggct ggcggccgct gcagagcacc
      481 gagctgtgtc cgggcggggg agcccgcgtt gtggcagtgg cggcgctccg aggccgcctg
      541 gtgtggtgcg aggagcggca ggcccgggcc gagggcccgt cagggtcgcc agcagccgct
      601 ttcagccact gtgtgtgcgt ccggactctg gagcccagcg gggaagctag caccagcctg
      661 ggccgcacac acgtcctgct gcaccactgc cctgccttcg ggctgctggc ctcctgcaga
      721 caactcttcc tggtgcccac tgccaccacc tggcctggcg tggcccacgt tctactcatc
      781 tggagcccag gcaagggcaa agtgatggtg gctgccccac ggcttggtct ctcctacagt
      841 aagagtctga atcctggacg aggggacaca tgggacttcc ggaccctgct ccgaggcctt
      901 cctgggttgc tgtcccccag ggagccactg gctgtacaca cctgggcccc aactccccag
      961 ggcctgctgt tgcttgactt cgggggcact gtgagcctat tgcagtccca cggtggtacg
     1021 cgggctgtgg gcaccctgca ggaggcacct gtaggcccgt gggggtctgc agccctaggc
     1081 acatttcagg gcactctggc ctgtgtgctg ggctccacat tggaactgct ggacatgggc
     1141 agtgggcagc tgctggagag gaaggtccta agtacagaca gggtacatct gctagaaccg
     1201 ccagcccccg gcatggagga tgaggaagag ctggagaccc gagggaatct tcgtctgctt
     1261 tcagccttgg gtctgttttg tgtgggctgg gaagccccac agggtgttga gttgccttca
     1321 gccaaggatc tggtgtttga ggaggcctgc gggtactacc agcggcggag cctgcggggt
     1381 gcccagctca ctccagaaga actgagacac agcagcacat tccgggcacc tcaggctctg
     1441 gcctccatcc tccagggcca cctgccccca tctgcactgc tgaccatgtt gaggaccgag
     1501 cttcgggatt accgaggctt agaacagctg aaggcccagc tggtggctgg ggatgatgag
     1561 gaggctggtt ggactgagct ggcggagcag gaagtggcac gcctgctgag gactgagttg
     1621 ataggagacc agctagccca gctcaacacc gttttccaag cccttcctac agcagcctgg
     1681 ggtgccaccc tcagggccct gcagctccag ctagatggga atggcaagct gaggtcccaa
     1741 gcaccccctg atgtgtggaa gaaagtgtta gggggaataa ccgctggaaa ggaacccccc
     1801 aatggaatac tgcccccctt tgaactcctg tgccagtgtc tgtgccagct ggagcctcga
     1861 tggctgccac cctttgtgga gctggcacag cagcagggcg ggccgggctg gggggcaggg
     1921 ggcccaggac tgcccctgta tcgccgagct ctggcagtgc taggtgagga ggggaccagg
     1981 cctgaggctc tggagctaga gctgctcttg agcagtgggc ggcctaaagc tgtgctccaa
     2041 gctgtcgggc agctggtgca aaaggaacaa tgggatcggg ctctggatgc tggcctggcc
     2101 ctcggcccct ccagtcccct gcttcgaagt gaaatcttca aactgctgct ggccgagttt
     2161 gcccagcacc gccggcttga tgctcacctc cccctccttt gccgcctgtg cccaccagaa
     2221 ctggctccag ctgagctcct gcttctactg aggacatacc tcccagatga ggtggggccc
     2281 ccaaccccat tccctgagcc tggagcagag ccccctctca ctgtgggctt gctcaaagcc
     2341 ctgctggagc agactggggc tcaaggatgg ctgtcgggcc cagttctaag cccatatgag
     2401 gacatcctat gggaccccag cactccaccc ccgactccac ctcgggacct atgactaccc
     2461 ttcaggcatc agaacactca gggcctggag gcttgcttgg gactggaggc ttgcttggac
     2521 agttcctctg tgtcactgac acaggaaatc atttctagga cacagtgatc agggaagggt
     2581 gcctgggact tggagggtcc catgtatgga cctgtgtatg caatactgtt ctgtcatctg
     2641 gagctatttt taagatgtgt gtgttaaata tatacatagt ttaatata
//
