LOCUS       XM_047425149            3362 bp    mRNA    linear   PRI 25-AUG-2024
DEFINITION  PREDICTED: Homo sapiens HPS1 biogenesis of lysosomal organelles
            complex 3 subunit 1 (HPS1), transcript variant X7, mRNA.
ACCESSION   XM_047425149
VERSION     XM_047425149.1
DBLINK      BioProject: PRJNA168
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
COMMENT     MODEL REFSEQ:  This record is predicted by automated computational
            analysis. This record is derived from a genomic sequence
            (NC_000010.11) annotated using gene prediction method: Gnomon,
            supported by mRNA and EST evidence.
            Also see:
                Documentation of NCBI's Annotation Process
            
            ##Genome-Annotation-Data-START##
            Annotation Provider         :: NCBI RefSeq
            Annotation Status           :: Updated annotation
            Annotation Name             :: GCF_000001405.40-RS_2024_08
            Annotation Pipeline         :: NCBI eukaryotic genome annotation
                                           pipeline
            Annotation Software Version :: 10.3
            Annotation Method           :: Best-placed RefSeq; Gnomon;
                                           RefSeqFE; cmsearch; tRNAscan-SE
            Features Annotated          :: Gene; mRNA; CDS; ncRNA
            Annotation Date             :: 08/23/2024
            ##Genome-Annotation-Data-END##
FEATURES             Location/Qualifiers
     source          1..3362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
     gene            1..3362
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /note="HPS1 biogenesis of lysosomal organelles complex 3
                     subunit 1; Derived by automated computational analysis
                     using gene prediction method: Gnomon. Supporting evidence
                     includes similarity to: 1 mRNA, 54 ESTs, 213 long SRA
                     reads, 2 Proteins, and 78% coverage of the annotated
                     genomic feature by RNAseq alignments, including 10 samples
                     with support for all annotated introns"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
     CDS             155..1996
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS1 isoform X2"
                     /protein_id="XP_047281105.1"
                     /db_xref="GeneID:3257"
                     /db_xref="HGNC:HGNC:5163"
                     /db_xref="MIM:604982"
                     /translation="MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALE
                     DQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLAAAPRPGAACPAVGALP
                     EPAVDLQPPAGAGAVLRRGGDYWARESSGLEAVSHSASSLRPADLLALILLVQDLYPS
                     ESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAP
                     SPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCP
                     LVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRS
                     QPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLC
                     AIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLED
                     FPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQK
                     GYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYY
                     SKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL"
     polyA_site      3362
                     /gene="HPS1"
                     /gene_synonym="BLOC3S1; HPS"
                     /experiment="COORDINATES: polyA evidence [ECO:0006239]"
ORIGIN      
        1 aagcgcgccc gggctcctgc aggcggggcg ctgtgcgcgc cgcgatccgg accagggatg
       61 ctgtgctgct ctcccatgag ccagtcaccg agtcggtctg ctgcagccct ttctgaacct
      121 ctggccgtct ggatgctcca ctgtgcttgc caagatgaag tgcgtcttgg tggccactga
      181 gggcgcagag gtcctcttct actggacaga tcaggagttt gaagagagtc tccggctgaa
      241 gttcgggcag tcagagaatg aggaagaaga gctccctgcc ctggaggacc agctcagcac
      301 cctcctagcc ccggtcatca tctcctccat gacgatgctg gagaagctct cggacaccta
      361 cacctgcttc tccacggaaa atggcaactt cctgtatgtc cttcacctgg ctgcggcccc
      421 cagacctggc gcagcgtgtc cagctgtggg agcacttcca gagcctgctg tggacctaca
      481 gccgcctgcg ggagcaggag cagtgcttcg ccgtggaggt gactactggg cgcgggagtc
      541 ctcaggactt gaagctgtca gccacagtgc cagctccctg cgcccggccg acctgcttgc
      601 cctcatcctc ctggttcagg acctctaccc cagcgagagc acagcagagg acgacattca
      661 gccttccccg cggagggccc ggagcagcca gaacatcccc gtgcagcagg cctggagccc
      721 tcactccacg ggcccaactg gggggagctc tgcagagacg gagacagaca gcttctccct
      781 ccctgaggag tacttcacac cagctccttc ccctggcgat cagagctcag gtagcaccat
      841 ctggctggag gggggcaccc cccccatgga tgcccttcag atagcagagg acaccctcca
      901 aacactggtt ccccactgcc ctgtgccttc cggccccaga aggatcttcc tggatgccaa
      961 cgtgaaggaa agctactgcc ccctagtgcc ccacaccatg tactgcctgc ccctgtggca
     1021 gggcatcaac ctggtgctcc tgaccaggag ccccagcgcg cccctggccc tggttctgtc
     1081 ccagctgatg gatggcttct ccatgctgga gaagaagctg aaggaagggc cggagcccgg
     1141 ggcctccctg cgctcccagc ccctcgtggg agacctgcgc cagaggatgg acaagtttgt
     1201 caagaatcga ggggcacagg agattcagag cacctggctg gagtttaagg ccaaggcttt
     1261 ctccaaaagt gagcccggat cctcctggga gctgctccag gcatgtggga agctgaagcg
     1321 gcagctctgc gccatctacc ggctgaactt tctgaccaca gcccccagca ggggaggccc
     1381 acacctgccc cagcacctgc aggaccaagt gcagaggctc atgcgggaga agctgacgga
     1441 ctggaaggac ttcttgctgg tgaagagcag gaggaacatc accatggtgt cctacctaga
     1501 agacttccca ggcttggtgc acttcatcta tgtggaccgc accactgggc agatggtggc
     1561 gccttccctc aactgcagtc aaaagacctc gtcggagttg ggcaaggggc cgctggctgc
     1621 ctttgtcaaa actaaggtct ggtctctgat ccagctggcg cgcagatacc tgcagaaggg
     1681 ctacaccacg ctgctgttcc aggaggggga tttctactgc tcctacttcc tgtggttcga
     1741 gaatgacatg gggtacaaac tccagatgat cgaggtgccc gtcctctccg acgactcagt
     1801 gcctatcggc atgctgggag gagactacta caggaagctc ctgcgctact acagcaagaa
     1861 ccgcccaacc gaggctgtca ggtgctacga gctgctggcc ctgcacctgt ctgtcatccc
     1921 cactgacctg ctggtgcagc aggccggcca gctggcccgg cgcctctggg aggcctcccg
     1981 tatccccctg ctctaggcca aggtggccgc agtctgcctt tgcatcctgt cctccagcca
     2041 cccttgcttg ccactgttcc ccatgacgag agcctcctgt ctgcagtggc catcctgagg
     2101 atagggcaga gtgcccaggg tggccccagg gcttctaaaa ccccacctag accaccctcc
     2161 atgtcaggta ctgagcaagg ccccagatcc ttctctctgg aggaagaggg aagcccaggg
     2221 gtcctgtttg taaaacaacg gtggcaacag ctcctcttcc agagctgcct ctgcctttat
     2281 cctgggagat ggggaggaag ccccatctct gctgttccct gcgtggagga agcccaccca
     2341 gcaagctctc tcctacccca ggtaaaaggt gctcctttgc ctgggtttga attccagcgc
     2401 tgccacttcc tctctgcacc tcctggcaag tttcttctat tccccacgtt taaagcgatg
     2461 gcacctccgt cccagggtgg tgtgaggatt acccagtgtg gtaggtgctc aataaatgtt
     2521 ggtcattgtt atcactgaag cccaacatgc tagtgcttct agacccttct gtcagtgctg
     2581 ataagccctt gctaagtccc agccccttca tgcttggctg gcgtctgccc tagggctggg
     2641 gttctcaagc ccctggccct ggcccagaga tttggattcc cttggcggcc gtggagccca
     2701 gcctttgatg tctttcaaag cttctgtggt gcgccctgga ttgagaacca ccacccgagg
     2761 ggtacagccc ctctcttcca accgagaagt tcctgtccca gaatggaccc agggacaaga
     2821 gaccctgaga gccctgggac tgggagtgtc tgctcctctg aggccaggag gccggtgctg
     2881 ggccagagag gacggcgtgg cgaaagtcag cgtccactgc agcacaggat cagatggccg
     2941 tgtgctgtgc atgcaggagc ctcgccttct gtgtctttag tcttgagcca aaatttgctc
     3001 aaagactgat ctcttccttg cagggaacag ctttggggct gggggaacta gaacccacat
     3061 gttggtctaa accctgagaa ggtggcagtg aggaagtatc ccctcaggtg actggatctg
     3121 tgttcctcct taacatcatc tgatggaatg gcaatgaaaa gcgtggattg tggaaaatac
     3181 agaaaaacat aaaggaaaaa actccaatcc cctgagccca ccactgttca ggacccctgc
     3241 ttttgtcacc tactatttcc ctttagtttt tagcagcggc tggatgtgat atgtctagtt
     3301 taaccagtcc ccttgatctt tctatataat aaataacaca ggagtgaaca tcctgaatca
     3361 ga
//
