LOCUS       NM_032383               4611 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens HPS3 biogenesis of lysosomal organelles complex 2
            subunit 1 (HPS3), transcript variant 1, mRNA.
ACCESSION   NM_032383
VERSION     NM_032383.5
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 4611)
  AUTHORS   Zaman,Q., Sadeeda, Anas,M., Rehman,G., Khan,Q., Iftikhar,A.,
            Ahmad,M., Owais,M., Ahmad,I., Muthaffar,O.Y., Abdulkareem,A.A.,
            Bibi,F., Jelani,M. and Naseer,M.I.
  TITLE     Report of Hermansky-Pudlak Syndrome in Two Families with Novel
            Variants in HPS3 and HPS4 Genes
  JOURNAL   Genes (Basel) 14 (1), 145 (2023)
   PUBMED   36672886
  REMARK    GeneRIF: Report of Hermansky-Pudlak Syndrome in Two Families with
            Novel Variants in HPS3 and HPS4 Genes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4611)
  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   3  (bases 1 to 4611)
  AUTHORS   Saito,S., Tanaka,R., Sasaki,T., Aoki,S., Yasuhara,R., Nakayama,Y.,
            Nagai,T., Sonobe,H., Ozawa,Y. and Kubo,A.
  TITLE     Subclinical hypopigmentation of the skin and hair in a Japanese
            patient with Hermansky-Pudlak syndrome type 3
  JOURNAL   J Dermatol 47 (1), e18-e20 (2020)
   PUBMED   31621111
  REMARK    GeneRIF: Subclinical hypopigmentation of the skin and hair in a
            Japanese patient with Hermansky-Pudlak syndrome type 3.
REFERENCE   4  (bases 1 to 4611)
  AUTHORS   D'Costa,V.M., Coyaud,E., Boddy,K.C., Laurent,E.M.N., St-Germain,J.,
            Li,T., Grinstein,S., Raught,B. and Brumell,J.H.
  TITLE     BioID screen of Salmonella type 3 secreted effectors reveals host
            factors involved in vacuole positioning and stability during
            infection
  JOURNAL   Nat Microbiol 4 (12), 2511-2522 (2019)
   PUBMED   31611645
REFERENCE   5  (bases 1 to 4611)
  AUTHORS   Wei,A., Yuan,Y., Bai,D., Ma,J., Hao,Z., Zhang,Y., Yu,J., Zhou,Z.,
            Yang,L., Yang,X., Li,L. and Li,W.
  TITLE     NGS-based 100-gene panel of hypopigmentation identifies mutations
            in Chinese Hermansky-Pudlak syndrome patients
  JOURNAL   Pigment Cell Melanoma Res 29 (6), 702-706 (2016)
   PUBMED   27593200
  REMARK    GeneRIF: HPS3 mutation is associated with high hypopigmentation in
            Hermansky-Pudlak syndrome.
REFERENCE   6  (bases 1 to 4611)
  AUTHORS   Suzuki,T., Li,W., Zhang,Q., Novak,E.K., Sviderskaya,E.V.,
            Wilson,A., Bennett,D.C., Roe,B.A., Swank,R.T. and Spritz,R.A.
  TITLE     The gene mutated in cocoa mice, carrying a defect of organelle
            biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3
            gene
  JOURNAL   Genomics 78 (1-2), 30-37 (2001)
   PUBMED   11707070
REFERENCE   7  (bases 1 to 4611)
  AUTHORS   Huizing,M., Anikster,Y., Fitzpatrick,D.L., Jeong,A.B., D'Souza,M.,
            Rausche,M., Toro,J.R., Kaiser-Kupfer,M.I., White,J.G. and Gahl,W.A.
  TITLE     Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other
            non-Puerto Rican patients with hypopigmentation and platelet
            storage-pool deficiency
  JOURNAL   Am J Hum Genet 69 (5), 1022-1032 (2001)
   PUBMED   11590544
  REMARK    GeneRIF: mutational analysis in Ashkenazi Jews with
            Hermansky-Pudlak syndrome 3
REFERENCE   8  (bases 1 to 4611)
  AUTHORS   Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O.,
            Fitzpatrick,D.L., Touchman,J.W., Compton,J.G., Bale,S.J.,
            Swank,R.T., Gahl,W.A. and Toro,J.R.
  TITLE     Mutation of a new gene causes a unique form of Hermansky-Pudlak
            syndrome in a genetic isolate of central Puerto Rico
  JOURNAL   Nat Genet 28 (4), 376-380 (2001)
   PUBMED   11455388
REFERENCE   9  (bases 1 to 4611)
  AUTHORS   Oh,J., Ho,L., Ala-Mello,S., Amato,D., Armstrong,L., Bellucci,S.,
            Carakushansky,G., Ellis,J.P., Fong,C.T., Green,J.S., Heon,E.,
            Legius,E., Levin,A.V., Nieuwenhuis,H.K., Pinckers,A., Tamura,N.,
            Whiteford,M.L., Yamasaki,H. and Spritz,R.A.
  TITLE     Mutation analysis of patients with Hermansky-Pudlak syndrome: a
            frameshift hot spot in the HPS gene and apparent locus
            heterogeneity
  JOURNAL   Am J Hum Genet 62 (3), 593-598 (1998)
   PUBMED   9497254
REFERENCE   10 (bases 1 to 4611)
  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 AY033141.1, BC022062.2,
            CB241738.1 and AC131209.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_032383.4.
            
            Summary: This gene encodes a protein containing a potential
            clathrin-binding motif, consensus dileucine signals, and
            tyrosine-based sorting signals for targeting to vesicles of
            lysosomal lineage. The encoded protein may play a role in organelle
            biogenesis associated with melanosomes, platelet dense granules,
            and lysosomes. Mutations in this gene are associated with
            Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803617.74487.1,
                                           SRR7346977.1794423.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296051.7/ ENSP00000296051.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3197              AY033141.1         55-3251
            3198-3453           BC022062.2         2675-2930
            3454-4075           CB241738.1         15-636              c
            4076-4611           AC131209.2         6710-7245           c
FEATURES             Location/Qualifiers
     source          1..4611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q24"
     gene            1..4611
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /note="HPS3 biogenesis of lysosomal organelles complex 2
                     subunit 1"
                     /db_xref="GeneID:84343"
                     /db_xref="HGNC:HGNC:15597"
                     /db_xref="MIM:606118"
     exon            1..303
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..3101
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Hermansky-Pudlak syndrome 3 protein; BLOC-2 complex member
                     HPS3"
                     /codon_start=1
                     /product="BLOC-2 complex member HPS3 isoform 1"
                     /protein_id="NP_115759.2"
                     /db_xref="CCDS:CCDS3140.1"
                     /db_xref="GeneID:84343"
                     /db_xref="HGNC:HGNC:15597"
                     /db_xref="MIM:606118"
                     /translation="MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAF
                     AVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENS
                     RVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFS
                     LKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNG
                     ERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLES
                     TGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLS
                     QEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQ
                     CFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTK
                     AEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSN
                     TYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLD
                     SQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNE
                     ELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAA
                     VALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGL
                     LVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQEL
                     FFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYT
                     EDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLER
                     CPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVEL
                     ELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT"
     exon            304..798
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            799..970
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1056
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1249
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1331
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1486
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1595
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1596..1777
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1958
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2192
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2193..2378
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2379..2567
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2568..2675
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2676..2882
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2883..2973
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2974..4611
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3820..3825
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /note="hexamer: AATACA"
     polyA_site      3840
                     /gene="HPS3"
                     /gene_synonym="BLOC2S1; SUTAL"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtagtc ctacattcgc ggtcagcgcg gggtctccgg gcgccctgca gggcgggcag
       61 gctgtgccat cccgccggac gtcgggatgg tgcagctgta caacctgcac ccgttcgggt
      121 cgcagcaggt ggtgccctgc aagctggagc cggaccggtt ctgtggcggg gggcgtgacg
      181 cgcttttcgt ggcggcgggc tgcaaggtgg aggcgttcgc ggtggccggc caggagctgt
      241 gccagccgcg gtgcgccttc tccacgctgg gccgggtgtt gcgcctggcc tacagcgagg
      301 ctggagatta tttggtagca attgaagaga aaaacaaagc tacatttcta cgtgcttatg
      361 tgaactggag aaataaaagg actgaaaact ctcgtgtgtg tatccgaatg attgggcata
      421 atgtggaggg accattcagc aaagccttca gagaccagat gtacattatt gaaatgccgc
      481 tttcggaggc ccccttgtgc atttcctgtt gccctgtgaa aggagacctt ctcgttggct
      541 gcacaaataa attagtctta tttagtttga agtaccagat cattaatgag gaattctcac
      601 tattggactt tgaacgttct ttaattatac acatagataa tatcactcct gttgaggttt
      661 ctttttgtgt tggatatgtt gctgtcatgt cagacttaga agtcttaatc gtaaaactgg
      721 agtcaggccc taaaaatgga gagagagttc accaccatcc acataagacc aacaatcgaa
      781 taagacggac agaagaaggc atcagtaatg aaatttcaca gcttgagtca gatgattttg
      841 tcatctgcca gaagcccctg gaacttcttg gtgaaaaaag tgaacagtct ggattatctg
      901 ttacactgga gtctacggga ttagctgatg aaaaaagaaa atattcccac tttcagcacc
      961 tgctctatag acgttttgct cctgatattt cgtcctatgt cttgtctgat gacatcaagc
     1021 tacattccct ccagctgcta cccatttacc agaccggttc tcttacatct gatggaaaaa
     1081 atttgtctca ggaaaaagaa ttgctgagtc tcttttgctt tttctcctta cctcatgtgg
     1141 gctatctcta catggttgtc aaatctgttg aattgatgtc agtctaccag tatcctgaaa
     1201 agtctcagca ggcagtactc acgccacaat ttttgcacgt cattacaagt aacaacctgc
     1261 agtgtttcac tgtgcggtgc agtgcggcgg cagctcgtga ggaggacccg tacatggaca
     1321 ccaccctgaa ggcttgccca cctgtcagta tggatgtctg tgctttaaga atacagcttt
     1381 tcataggctt gaaagccatc tgtcacttta aaaaccacat catacttttg actaaagcag
     1441 aacctgaagc cattccagag agaagacagt cacccaagag gcttctttcg agaaaagata
     1501 ccagtgttaa aatcaaaata cctcctgtag ctgaggctgg gtggaatttg tatattgtga
     1561 atacgatctc accagtgcag ctgtacaaag agatggtaga ctatagcaat acctataaga
     1621 ctgtcaaaac ccagagctgc attcaccttc tcagtgaggc tcatctgtta gtgcgagctg
     1681 ccctgatgga tgccagtcag ctggaacctg gagagaaggc agagcttttg gaagcattta
     1741 aggaaagctg tgggcacctt ggggactgtt acagcaggct tgactcccag cattctcatc
     1801 tcaccttgcc atactataag atgtctggtt tgtctatggc tgaagttctg gcccgcacgg
     1861 actggacagt agaggatgga ttacagaaat acgagagagg attaatcttt tacattaatc
     1921 attcacttta tgaaaacctg gatgaagaat taaatgaaga attagcagca aaagtggttc
     1981 agatgtttta tgtggctgag ccaaagcaag tgccccatat tctctgtagt ccttctatga
     2041 agaatattaa tcctttaact gccatgagct atctaaggaa gctggatact tctgggtttt
     2101 catcgatctt agtgacattg accaaggcag cagtggctct gaaaatggga gatcttgaca
     2161 tgcacagaaa tgaaatgaaa agccattcag agatgaagtt ggtatgtggc ttcattctgg
     2221 aacctcggct gttgattcaa cagagaaagg gacagattgt tccaaccgag cttgcacttc
     2281 acttgaagga aactcagcct ggattgcttg tggcttcagt tctgggcttg cagaagaaca
     2341 acaaaattgg aattgaagaa gcagattcct tttttaaggt gctttgtgct aaggatgaag
     2401 atacaattcc tcagctcttg gtagactttt gggaagctca gctagtggca tgtctcccag
     2461 atgtggtact tcaggaactc tttttcaaac tcacatcaca gtacatctgg agattgtcta
     2521 agaggcagcc tcctgacacc acaccattgc gaacatcgga ggatctgata aatgcctgta
     2581 gtcattatgg cttaatttat ccatgggttc acgtcgtaat atcatctgat tctttagctg
     2641 ataaaaatta tacagaagat ctttcaaaat tacagtctct tatatgtggt ccttcatttg
     2701 acatagcttc cattattccg ttcttggagc cactttcaga agacactatt gccggcctca
     2761 gtgtccatgt tctgtgtcgt acacgcttga aagagtatga acagtgcata gacatactgt
     2821 tagagagatg cccggaggca gtcattccat atgctaatca tgaactgaaa gaagagaacc
     2881 ggactctgtg gtggaaaaaa ctgttgcctg aactttgtca gagaataaaa tgtggtggag
     2941 agaagtatca actctacctg tcatcattaa aagaaacatt gtcaattgtt gctgtggaac
     3001 tagaactgaa ggatttcatg aatgttctcc cagaagatgg tactgcaaca tttttcttgc
     3061 catatcttct ctattgcagt cgaaagaaac cattgactta aaggtatcat ttgaaaaata
     3121 ccataatggc atttgagact gaatttctaa aaattgaatg ccaaagtaca agtagaggag
     3181 ttttttattt tatatatcac acacacacac acacacacac acacacacac acacatatat
     3241 gatacaaatg ctttcaggct gcttacctta ccgtgtagtg gtaactattc acttcttaat
     3301 ttatgacctc aatcaattta attgtctaga atgtaaaaag tctttaagac ataagaattc
     3361 ctcaaagaag ccatacattt tttaaggtgg ggattgactt ttattccaag gaacaacatc
     3421 agttcactgt tgttggagac atgacaatca ttttcatccc aagaacactt taaggaaaca
     3481 ttttacaagt atgcttgaaa gaatgtcact aactggtcca gaattttatc ttcttgattt
     3541 ttccagattt ctctatgttt ttgagaaaga tgttaatgtt ttgccatggt aaaagatttc
     3601 aaacctcatt ttttttgttc cttttcttgt tacttttaag aaaactcatg ctctgtttct
     3661 ctgaatcaaa tgaagtagaa gtttacaaag ctaactttct tcttgtctag ctattaacat
     3721 gatttgtcaa atgcatgttt ttttcagcca aagccttgtt tccatttttg ttgatgtgta
     3781 ctcttgctct tttagctaga gtgtatgtga aaataaagaa atacatcatt gtattcacaa
     3841 ccatgtgtct tcatttataa ctttttgttt aaaaaatttt tagttcaagt ttagttcatt
     3901 gatattatcc tctgaatgca gttaaggctg ggcagaaatt ctactcatgt gacatctgcc
     3961 acaggtctat tttgaagctt ttcttctaat ggcaatgttt gtccttacca ggatttaatc
     4021 tatagaattg tctctcaact ctgcttttct ccagttccag ataacgtcct taagaccatc
     4081 tgttcagggg ttcacaaaac tcaaatttgt gtcattctat tttatttatt ttatttttta
     4141 tttccttccc tcataccttg cccattccct ctgaatatta ggtgtgatgt caacagcatg
     4201 ttagaaggat caatgggaag gcaatgattg aaaacatttc aatgaacctt aatagtgttc
     4261 ctttgaggag cacccaggag aatatctggt catagatctt tttttaaatg cagttttata
     4321 aaaccctaac agcggtgata tcattagact gtatgaatca gttttattac ctagtgtaca
     4381 agtgtcagtc atgtatcatt atatagtctg ttgatctttc catttgcaaa aaattaatag
     4441 ttttccccca caaatgtaca aagttgtatg cttccagtct tcttttaatg tttatagtca
     4501 ttccaaagta acattctatt ttacactttc acatacattg ttatgaatca ttggtttttc
     4561 tcttttttcc acttatcacc aatttatttc attcagccag atttggtgtc t
//
