LOCUS       NM_000195               3703 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens HPS1 biogenesis of lysosomal organelles complex 3
            subunit 1 (HPS1), transcript variant 1, mRNA.
ACCESSION   NM_000195
VERSION     NM_000195.5
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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 3703)
  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 DA385131.1, U65676.1,
            AL833734.1, AL139243.11 and BF447504.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000195.4.
            
            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 (1) encodes the longest isoform
            (a). Variants 1, 6, and 7 all encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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##
            Transcript exon combination :: U65676.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361490.9/ ENSP00000355310.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                DA385131.1         27-113
            88-2041             U65676.1           60-2013
            2042-2880           AL833734.1         722-1560
            2881-3663           AL139243.11        61025-61807         c
            3664-3703           BF447504.1         15-54               c
FEATURES             Location/Qualifiers
     source          1..3703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..3703
                     /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..234
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..2337
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="isoform a is encoded by transcript variant 1;
                     Hermansky-Pudlak syndrome 1 protein; BLOC-3 complex member
                     HPS1"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS1 isoform a"
                     /protein_id="NP_000186.2"
                     /db_xref="CCDS:CCDS7475.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
                     /translation="MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALE
                     DQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESE
                     GDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLR
                     EQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLL
                     AFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSP
                     HSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDT
                     LQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLA
                     LVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLE
                     FKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQR
                     LMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTS
                     SELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQ
                     MIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQ
                     QAGQLARRLWEASRIPLL"
     exon            235..351
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            352..489
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            490..632
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            633..741
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            742..902
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1002
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1101
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1171
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1221
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1389
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1569
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1631
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..1766
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1832
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..1977
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1978..2091
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2174
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     exon            2175..3703
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      2886
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="major polyA site"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="hexamer: AATAAA"
     polyA_site      3703
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
ORIGIN      
        1 aagcgcgccc gggctcctgc aggcggggcg ctgtgcgcgc cgcgatccgg tacgtgggcc
       61 tccgggctgt cccctctggg ggcggcgatc ctccctccgg agcccccctt caaccctccc
      121 ggaagtgagg accagggatg ctgtgctgct ctcccatgag ccagtcaccg agtcggtctg
      181 ctgcagccct ttctgaacct ctggccgtct ggatgctcca ctgtgcttgc caagatgaag
      241 tgcgtcttgg tggccactga gggcgcagag gtcctcttct actggacaga tcaggagttt
      301 gaagagagtc tccggctgaa gttcgggcag tcagagaatg aggaagaaga gctccctgcc
      361 ctggaggacc agctcagcac cctcctagcc ccggtcatca tctcctccat gacgatgctg
      421 gagaagctct cggacaccta cacctgcttc tccacggaaa atggcaactt cctgtatgtc
      481 cttcacctgt ttggagaatg cctgttcatt gccatcaatg gtgaccacac cgagagcgag
      541 ggggacctgc ggcggaagct gtatgtgctc aagtacctgt ttgaagtgca ctttgggctg
      601 gtgactgtgg acggtcatct tatccgaaag gagctgcggc ccccagacct ggcgcagcgt
      661 gtccagctgt gggagcactt ccagagcctg ctgtggacct acagccgcct gcgggagcag
      721 gagcagtgct tcgccgtgga ggccctggag cgactgattc acccccagct ctgtgagctg
      781 tgcatagagg cgctggagcg gcacgtcatc caggctgtca acaccagccc cgagcgggga
      841 ggcgaggagg ccctgcatgc cttcctgctc gtgcactcca agctgctggc attctactct
      901 agccacagtg ccagctccct gcgcccggcc gacctgcttg ccctcatcct cctggttcag
      961 gacctctacc ccagcgagag cacagcagag gacgacattc agccttcccc gcggagggcc
     1021 cggagcagcc agaacatccc cgtgcagcag gcctggagcc ctcactccac gggcccaact
     1081 ggggggagct ctgcagagac ggagacagac agcttctccc tccctgagga gtacttcaca
     1141 ccagctcctt cccctggcga tcagagctca ggtagcacca tctggctgga ggggggcacc
     1201 ccccccatgg atgcccttca gatagcagag gacaccctcc aaacactggt tccccactgc
     1261 cctgtgcctt ccggccccag aaggatcttc ctggatgcca acgtgaagga aagctactgc
     1321 cccctagtgc cccacaccat gtactgcctg cccctgtggc agggcatcaa cctggtgctc
     1381 ctgaccagga gccccagcgc gcccctggcc ctggttctgt cccagctgat ggatggcttc
     1441 tccatgctgg agaagaagct gaaggaaggg ccggagcccg gggcctccct gcgctcccag
     1501 cccctcgtgg gagacctgcg ccagaggatg gacaagtttg tcaagaatcg aggggcacag
     1561 gagattcaga gcacctggct ggagtttaag gccaaggctt tctccaaaag tgagcccgga
     1621 tcctcctggg agctgctcca ggcatgtggg aagctgaagc ggcagctctg cgccatctac
     1681 cggctgaact ttctgaccac agcccccagc aggggaggcc cacacctgcc ccagcacctg
     1741 caggaccaag tgcagaggct catgcgggag aagctgacgg actggaagga cttcttgctg
     1801 gtgaagagca ggaggaacat caccatggtg tcctacctag aagacttccc aggcttggtg
     1861 cacttcatct atgtggaccg caccactggg cagatggtgg cgccttccct caactgcagt
     1921 caaaagacct cgtcggagtt gggcaagggg ccgctggctg cctttgtcaa aactaaggtc
     1981 tggtctctga tccagctggc gcgcagatac ctgcagaagg gctacaccac gctgctgttc
     2041 caggaggggg atttctactg ctcctacttc ctgtggttcg agaatgacat ggggtacaaa
     2101 ctccagatga tcgaggtgcc cgtcctctcc gacgactcag tgcctatcgg catgctggga
     2161 ggagactact acaggaagct cctgcgctac tacagcaaga accgcccaac cgaggctgtc
     2221 aggtgctacg agctgctggc cctgcacctg tctgtcatcc ccactgacct gctggtgcag
     2281 caggccggcc agctggcccg gcgcctctgg gaggcctccc gtatccccct gctctaggcc
     2341 aaggtggccg cagtctgcct ttgcatcctg tcctccagcc acccttgctt gccactgttc
     2401 cccatgacga gagcctcctg tctgcagtgg ccatcctgag gatagggcag agtgcccagg
     2461 gtggccccag ggcttctaaa accccaccta gaccaccctc catgtcaggt actgagcaag
     2521 gccccagatc cttctctctg gaggaagagg gaagcccagg ggtcctgttt gtaaaacaac
     2581 ggtggcaaca gctcctcttc cagagctgcc tctgccttta tcctgggaga tggggaggaa
     2641 gccccatctc tgctgttccc tgcgtggagg aagcccaccc agcaagctct ctcctacccc
     2701 aggtaaaagg tgctcctttg cctgggtttg aattccagcg ctgccacttc ctctctgcac
     2761 ctcctggcaa gtttcttcta ttccccacgt ttaaagcgat ggcacctccg tcccagggtg
     2821 gtgtgaggat tacccagtgt ggtaggtgct caataaatgt tggtcattgt tatcactgaa
     2881 gcccaacatg ctagtgcttc tagacccttc tgtcagtgct gataagccct tgctaagtcc
     2941 cagccccttc atgcttggct ggcgtctgcc ctagggctgg ggttctcaag cccctggccc
     3001 tggcccagag atttggattc ccttggcggc cgtggagccc agcctttgat gtctttcaaa
     3061 gcttctgtgg tgcgccctgg attgagaacc accacccgag gggtacagcc cctctcttcc
     3121 aaccgagaag ttcctgtccc agaatggacc cagggacaag agaccctgag agccctggga
     3181 ctgggagtgt ctgctcctct gaggccagga ggccggtgct gggccagaga ggacggcgtg
     3241 gcgaaagtca gcgtccactg cagcacagga tcagatggcc gtgtgctgtg catgcaggag
     3301 cctcgccttc tgtgtcttta gtcttgagcc aaaatttgct caaagactga tctcttcctt
     3361 gcagggaaca gctttggggc tgggggaact agaacccaca tgttggtcta aaccctgaga
     3421 aggtggcagt gaggaagtat cccctcaggt gactggatct gtgttcctcc ttaacatcat
     3481 ctgatggaat ggcaatgaaa agcgtggatt gtggaaaata cagaaaaaca taaaggaaaa
     3541 aactccaatc ccctgagccc accactgttc aggacccctg cttttgtcac ctactatttc
     3601 cctttagttt ttagcagcgg ctggatgtga tatgtctagt ttaaccagtc cccttgatct
     3661 ttctatataa taaataacac aggagtgaac atcctgaatc aga
//
