LOCUS       NM_001322489            3513 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens HPS1 biogenesis of lysosomal organelles complex 3
            subunit 1 (HPS1), transcript variant 17, mRNA.
ACCESSION   NM_001322489 XM_005269761
VERSION     NM_001322489.2
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 3513)
  AUTHORS   Shakil,M., Akbar,A., Aisha,N.M., Hussain,I., Ullah,M.I., Atif,M.,
            Kaul,H., Amar,A., Latif,M.Z., Qureshi,M.A. and Mahmood,S.
  TITLE     Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and
            HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani
            Families
  JOURNAL   Genes (Basel) 13 (3), 503 (2022)
   PUBMED   35328057
  REMARK    GeneRIF: Delineating Novel and Known Pathogenic Variants in TYR,
            OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA)
            Pakistani Families.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3513)
  AUTHORS   Suezawa,T., Kanagaki,S., Korogi,Y., Nakao,K., Hirai,T.,
            Murakami,K., Hagiwara,M. and Gotoh,S.
  TITLE     Modeling of lung phenotype of Hermansky-Pudlak syndrome type I
            using patient-specific iPSCs
  JOURNAL   Respir Res 22 (1), 284 (2021)
   PUBMED   34736469
  REMARK    GeneRIF: Modeling of lung phenotype of Hermansky-Pudlak syndrome
            type I using patient-specific iPSCs.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3513)
  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   4  (bases 1 to 3513)
  AUTHORS   Yu,J., He,X., Wei,A., Liu,T., Zhang,Q., Pan,Y., Hao,Z., Yang,L.,
            Yuan,Y., Zhang,Z., Zhang,C., Hao,C., Liu,Z. and Li,W.
  TITLE     HPS1 Regulates the Maturation of Large Dense Core Vesicles and
            Lysozyme Secretion in Paneth Cells
  JOURNAL   Front Immunol 11, 560110 (2020)
   PUBMED   33224134
  REMARK    GeneRIF: HPS1 Regulates the Maturation of Large Dense Core Vesicles
            and Lysozyme Secretion in Paneth Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3513)
  AUTHORS   Ghafouri-Fard,S., Hashemi-Gorji,F., Yassaee,V.R., Alipour,N. and
            Miryounesi,M.
  TITLE     A Novel Splice Site Mutation in HPS1 Gene is Associated with
            Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
  JOURNAL   Int J Mol Cell Med 5 (3), 192-195 (2016)
   PUBMED   27942505
REFERENCE   6  (bases 1 to 3513)
  AUTHORS   Bailin,T., Oh,J., Feng,G.H., Fukai,K. and Spritz,R.A.
  TITLE     Organization and nucleotide sequence of the human Hermansky-Pudlak
            syndrome (HPS) gene
  JOURNAL   J Invest Dermatol 108 (6), 923-927 (1997)
   PUBMED   9182823
REFERENCE   7  (bases 1 to 3513)
  AUTHORS   Oh,J., Bailin,T., Fukai,K., Feng,G.H., Ho,L., Mao,J.I., Frenk,E.,
            Tamura,N. and Spritz,R.A.
  TITLE     Positional cloning of a gene for Hermansky-Pudlak syndrome, a
            disorder of cytoplasmic organelles
  JOURNAL   Nat Genet 14 (3), 300-306 (1996)
   PUBMED   8896559
REFERENCE   8  (bases 1 to 3513)
  AUTHORS   Wildenberg,S.C., Oetting,W.S., Almodovar,C., Krumwiede,M.,
            White,J.G. and King,R.A.
  TITLE     A gene causing Hermansky-Pudlak syndrome in a Puerto Rican
            population maps to chromosome 10q2
  JOURNAL   Am J Hum Genet 57 (4), 755-765 (1995)
   PUBMED   7573033
REFERENCE   9  (bases 1 to 3513)
  AUTHORS   Fukai,K., Oh,J., Frenk,E., Almodovar,C. and Spritz,R.A.
  TITLE     Linkage disequilibrium mapping of the gene for Hermansky-Pudlak
            syndrome to chromosome 10q23.1-q23.3
  JOURNAL   Hum Mol Genet 4 (9), 1665-1669 (1995)
   PUBMED   8541858
REFERENCE   10 (bases 1 to 3513)
  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 AL139243.11.
            
            On Aug 13, 2020 this sequence version replaced NM_001322489.1.
            
            Summary: This gene encodes a protein that may play a role in
            organelle biogenesis associated with melanosomes, platelet dense
            granules, and lysosomes. The encoded protein is a component of
            three different protein complexes termed biogenesis of
            lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.
            Mutations in this gene are associated with Hermansky-Pudlak
            syndrome type 1. Alternative splicing results in multiple
            transcript variants. A pseudogene related to this gene is located
            on chromosome 22. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (17), along with variants 5 and
            16, encodes isoform e.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-129               AL139243.11        91594-91722         c
            130-243             AL139243.11        90087-90200         c
            244-360             AL139243.11        87911-88027         c
            361-498             AL139243.11        80422-80559         c
            499-650             AL139243.11        78727-78878         c
            651-811             AL139243.11        75918-76078         c
            812-911             AL139243.11        75358-75457         c
            912-981             AL139243.11        74360-74429         c
            982-1031            AL139243.11        72002-72051         c
            1032-1199           AL139243.11        70605-70772         c
            1200-1379           AL139243.11        70328-70507         c
            1380-1441           AL139243.11        69100-69161         c
            1442-1576           AL139243.11        68540-68674         c
            1577-1642           AL139243.11        68390-68455         c
            1643-1787           AL139243.11        67156-67300         c
            1788-1901           AL139243.11        64832-64945         c
            1902-1984           AL139243.11        62962-63044         c
            1985-3513           AL139243.11        60985-62513         c
FEATURES             Location/Qualifiers
     source          1..3513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..3513
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="HPS1 biogenesis of lysosomal organelles complex 3
                     subunit 1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
     exon            1..129
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            130..243
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            244..360
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            361..498
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            499..650
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            651..811
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            812..911
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            912..981
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1031
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             1017..2147
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="isoform e is encoded by transcript variant 17;
                     Hermansky-Pudlak syndrome 1 protein; BLOC-3 complex member
                     HPS1"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS1 isoform e"
                     /protein_id="NP_001309418.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
                     /translation="MDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHT
                     MYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVG
                     DLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRL
                     NFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLV
                     HFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL
                     LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRP
                     TEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL"
     exon            1032..1199
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1379
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1441
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1576
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1642
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1787
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1901
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..1984
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1985..3513
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2662..2667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      2696
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="major polyA site"
     regulatory      3479..3484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      3513
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
ORIGIN      
        1 aagcgcgccc gggctcctgc aggcggggcg ctgtgcgcgc cgcgatccgg tacgtgggcc
       61 tccgggctgt cccctctggg ggcggcgatc ctccctccgg agcccccctt caaccctccc
      121 ggaagtgagc atttgcagga ccagggatgc tgtgctgctc tcccatgagc cagtcaccga
      181 gtcggtctgc tgcagccctt tctgaacctc tggccgtctg gatgctccac tgtgcttgcc
      241 aagatgaagt gcgtcttggt ggccactgag ggcgcagagg tcctcttcta ctggacagat
      301 caggagtttg aagagagtct ccggctgaag ttcgggcagt cagagaatga ggaagaagag
      361 ctccctgccc tggaggacca gctcagcacc ctcctagccc cggtcatcat ctcctccatg
      421 acgatgctgg agaagctctc ggacacctac acctgcttct ccacggaaaa tggcaacttc
      481 ctgtatgtcc ttcacctggc tgcggccccc agacctggcg cagcgtgtcc agctgtggga
      541 gcacttccag agcctgctgt ggacctacag ccgcctgcgg gagcaggagc agtgcttcgc
      601 cgtggaggtg actactgggc gcgggagtcc tcaggacttg aagctgtcag gccctggagc
      661 gactgattca cccccagctc tgtgagctgt gcatagaggc gctggagcgg cacgtcatcc
      721 aggctgtcaa caccagcccc gagcggggag gcgaggaggc cctgcatgcc ttcctgctcg
      781 tgcactccaa gctgctggca ttctactcta gccacagtgc cagctccctg cgcccggccg
      841 acctgcttgc cctcatcctc ctggttcagg acctctaccc cagcgagagc acagcagagg
      901 acgacattca ggagacagac agcttctccc tccctgagga gtacttcaca ccagctcctt
      961 cccctggcga tcagagctca ggtagcacca tctggctgga ggggggcacc ccccccatgg
     1021 atgcccttca gatagcagag gacaccctcc aaacactggt tccccactgc cctgtgcctt
     1081 ccggccccag aaggatcttc ctggatgcca acgtgaagga aagctactgc cccctagtgc
     1141 cccacaccat gtactgcctg cccctgtggc agggcatcaa cctggtgctc ctgaccagga
     1201 gccccagcgc gcccctggcc ctggttctgt cccagctgat ggatggcttc tccatgctgg
     1261 agaagaagct gaaggaaggg ccggagcccg gggcctccct gcgctcccag cccctcgtgg
     1321 gagacctgcg ccagaggatg gacaagtttg tcaagaatcg aggggcacag gagattcaga
     1381 gcacctggct ggagtttaag gccaaggctt tctccaaaag tgagcccgga tcctcctggg
     1441 agctgctcca ggcatgtggg aagctgaagc ggcagctctg cgccatctac cggctgaact
     1501 ttctgaccac agcccccagc aggggaggcc cacacctgcc ccagcacctg caggaccaag
     1561 tgcagaggct catgcgggag aagctgacgg actggaagga cttcttgctg gtgaagagca
     1621 ggaggaacat caccatggtg tcctacctag aagacttccc aggcttggtg cacttcatct
     1681 atgtggaccg caccactggg cagatggtgg cgccttccct caactgcagt caaaagacct
     1741 cgtcggagtt gggcaagggg ccgctggctg cctttgtcaa aactaaggtc tggtctctga
     1801 tccagctggc gcgcagatac ctgcagaagg gctacaccac gctgctgttc caggaggggg
     1861 atttctactg ctcctacttc ctgtggttcg agaatgacat ggggtacaaa ctccagatga
     1921 tcgaggtgcc cgtcctctcc gacgactcag tgcctatcgg catgctggga ggagactact
     1981 acaggaagct cctgcgctac tacagcaaga accgcccaac cgaggctgtc aggtgctacg
     2041 agctgctggc cctgcacctg tctgtcatcc ccactgacct gctggtgcag caggccggcc
     2101 agctggcccg gcgcctctgg gaggcctccc gtatccccct gctctaggcc aaggtggccg
     2161 cagtctgcct ttgcatcctg tcctccagcc acccttgctt gccactgttc cccatgacga
     2221 gagcctcctg tctgcagtgg ccatcctgag gatagggcag agtgcccagg gtggccccag
     2281 ggcttctaaa accccaccta gaccaccctc catgtcaggt actgagcaag gccccagatc
     2341 cttctctctg gaggaagagg gaagcccagg ggtcctgttt gtaaaacaac ggtggcaaca
     2401 gctcctcttc cagagctgcc tctgccttta tcctgggaga tggggaggaa gccccatctc
     2461 tgctgttccc tgcgtggagg aagcccaccc agcaagctct ctcctacccc aggtaaaagg
     2521 tgctcctttg cctgggtttg aattccagcg ctgccacttc ctctctgcac ctcctggcaa
     2581 gtttcttcta ttccccacgt ttaaagcgat ggcacctccg tcccagggtg gtgtgaggat
     2641 tacccagtgt ggtaggtgct caataaatgt tggtcattgt tatcactgaa gcccaacatg
     2701 ctagtgcttc tagacccttc tgtcagtgct gataagccct tgctaagtcc cagccccttc
     2761 atgcttggct ggcgtctgcc ctagggctgg ggttctcaag cccctggccc tggcccagag
     2821 atttggattc ccttggcggc cgtggagccc agcctttgat gtctttcaaa gcttctgtgg
     2881 tgcgccctgg attgagaacc accacccgag gggtacagcc cctctcttcc aaccgagaag
     2941 ttcctgtccc agaatggacc cagggacaag agaccctgag agccctggga ctgggagtgt
     3001 ctgctcctct gaggccagga ggccggtgct gggccagaga ggacggcgtg gcgaaagtca
     3061 gcgtccactg cagcacagga tcagatggcc gtgtgctgtg catgcaggag cctcgccttc
     3121 tgtgtcttta gtcttgagcc aaaatttgct caaagactga tctcttcctt gcagggaaca
     3181 gctttggggc tgggggaact agaacccaca tgttggtcta aaccctgaga aggtggcagt
     3241 gaggaagtat cccctcaggt gactggatct gtgttcctcc ttaacatcat ctgatggaat
     3301 ggcaatgaaa agcgtggatt gtggaaaata cagaaaaaca taaaggaaaa aactccaatc
     3361 ccctgagccc accactgttc aggacccctg cttttgtcac ctactatttc cctttagttt
     3421 ttagcagcgg ctggatgtga tatgtctagt ttaaccagtc cccttgatct ttctatataa
     3481 taaataacac aggagtgaac atcctgaatc aga
//
