LOCUS       NM_022081               5066 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens HPS4 biogenesis of lysosomal organelles complex 3
            subunit 2 (HPS4), transcript variant 1, mRNA.
ACCESSION   NM_022081
VERSION     NM_022081.6
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 5066)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   2  (bases 1 to 5066)
  AUTHORS   Kuratomi,G., Saito,A., Ozeki,Y., Watanabe,T., Fujii,K., Shimoda,K.,
            Inukai,T., Mori,H., Ohmori,K. and Akiyama,K.
  TITLE     Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene
            variants with cognitive function in patients with schizophrenia and
            healthy subjects
  JOURNAL   BMC Psychiatry 13, 276 (2013)
   PUBMED   24168225
  REMARK    GeneRIF: These findings suggested the involvement of HPS4 in the
            working memory of healthy subjects and in the executive function
            deficits in schizophrenia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5066)
  AUTHORS   Saito,A., Kuratomi,G., Ito,C., Matsuoka,H., Suzuki,T., Ozeki,Y.,
            Watanabe,T., Fujii,K., Shimoda,K., Fukushima,Y., Inukai,T.,
            Ohmori,K. and Akiyama,K.
  TITLE     An association study of the Hermansky-Pudlak syndrome type 4 gene
            in schizophrenic patients
  JOURNAL   Psychiatr Genet 23 (4), 163-173 (2013)
   PUBMED   23563589
  REMARK    GeneRIF: These results suggest that the HPS4 gene confers a
            susceptibility to schizophrenia.
REFERENCE   4  (bases 1 to 5066)
  AUTHORS   Marks,M.S.
  TITLE     Organelle biogenesis: en BLOC exchange for RAB32 and RAB38
  JOURNAL   Curr Biol 22 (22), R963-R965 (2012)
   PUBMED   23174301
REFERENCE   5  (bases 1 to 5066)
  AUTHORS   Martina,J.A., Moriyama,K. and Bonifacino,J.S.
  TITLE     BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome
            gene products HPS1 and HPS4
  JOURNAL   J Biol Chem 278 (31), 29376-29384 (2003)
   PUBMED   12756248
  REMARK    GeneRIF: observations demonstrate that the Hermansky-Pudlak
            syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic
            complex that is involved in the biogenesis of lysosomal-related
            organelles
REFERENCE   6  (bases 1 to 5066)
  AUTHORS   Nazarian,R., Falcon-Perez,J.M. and Dell'Angelica,E.C.
  TITLE     Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a
            complex containing the Hermansky-Pudlak syndrome (HPS) proteins
            HPS1 and HPS4
  JOURNAL   Proc Natl Acad Sci U S A 100 (15), 8770-8775 (2003)
   PUBMED   12847290
  REMARK    GeneRIF: HPS4 but not HPS3 associates with HPS1 in a complex, which
            we term biogenesis of lysosome-related organelles complex 3
            (BLOC-3)
REFERENCE   7  (bases 1 to 5066)
  AUTHORS   Anderson,P.D., Huizing,M., Claassen,D.A., White,J. and Gahl,W.A.
  TITLE     Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular
            characteristics
  JOURNAL   Hum Genet 113 (1), 10-17 (2003)
   PUBMED   12664304
  REMARK    GeneRIF: Hermansky-Pudlak syndrome type 4 (HPS-4) patients
            exhibited iris transillumination, variable hair and skin
            pigmentation, absent platelet dense bodies, and occasional
            pulmonary fibrosis and granulomatous colitis.
REFERENCE   8  (bases 1 to 5066)
  AUTHORS   Chiang,P.W., Oiso,N., Gautam,R., Suzuki,T., Swank,R.T. and
            Spritz,R.A.
  TITLE     The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are
            components of two complexes, BLOC-3 and BLOC-4, involved in the
            biogenesis of lysosome-related organelles
  JOURNAL   J Biol Chem 278 (22), 20332-20337 (2003)
   PUBMED   12663659
  REMARK    GeneRIF: identification as a component of two complexes, BLOC-3 and
            BLOC-4, involved in the biogenesis of lysosome-related organelles
REFERENCE   9  (bases 1 to 5066)
  AUTHORS   Suzuki,T., Li,W., Zhang,Q., Karim,A., Novak,E.K., Sviderskaya,E.V.,
            Hill,S.P., Bennett,D.C., Levin,A.V., Nieuwenhuis,H.K., Fong,C.T.,
            Castellan,C., Miterski,B., Swank,R.T. and Spritz,R.A.
  TITLE     Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human
            homolog of the mouse light-ear gene
  JOURNAL   Nat Genet 30 (3), 321-324 (2002)
   PUBMED   11836498
  REMARK    GeneRIF: identification of mutations which establish HPS4 as
            important in Herman-Pudlak syndrome, and identification of mouse
            homolog light-ear gene
REFERENCE   10 (bases 1 to 5066)
  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 AK290211.1, BC065030.1,
            AY043416.1, Z99714.2 and BQ185676.1.
            
            On Mar 10, 2020 this sequence version replaced NM_022081.5.
            
            Summary: This gene encodes a protein component of biogenesis of
            lysosome-related organelles complexes (BLOC). BLOC complexes are
            important for the formation of endosomal-lysosomal organelles such
            as melanosomes and platelet dense granules. Mutations in this gene
            result in subtype 4 of Hermansky-Pudlak syndrome, a form of
            albinism. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            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 :: AK290211.1, AL713795.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398145.7/ ENSP00000381213.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-292               AK290211.1         1-292
            293-1145            BC065030.1         95-947
            1146-3865           AY043416.1         746-3465
            3866-4544           Z99714.2           36418-37096         c
            4545-5066           BQ185676.1         16-537              c
FEATURES             Location/Qualifiers
     source          1..5066
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..5066
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="HPS4 biogenesis of lysosomal organelles complex 3
                     subunit 2"
                     /db_xref="GeneID:89781"
                     /db_xref="HGNC:HGNC:15844"
                     /db_xref="MIM:606682"
     exon            1..110
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            111..629
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     CDS             589..2715
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="isoform a is encoded by transcript variant 1;
                     light-ear protein homolog; BLOC-3 complex member HPS4"
                     /codon_start=1
                     /product="BLOC-3 complex member HPS4 isoform a"
                     /protein_id="NP_071364.4"
                     /db_xref="CCDS:CCDS13835.1"
                     /db_xref="GeneID:89781"
                     /db_xref="HGNC:HGNC:15844"
                     /db_xref="MIM:606682"
                     /translation="MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQ
                     TLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPD
                     VSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
                     WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRT
                     APQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGL
                     QDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLE
                     SIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHV
                     PVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS
                     SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLEC
                     SSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSA
                     AIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATP
                     QDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGF
                     PNPQDGAFSLSGKAKQKLLKHGVNLL"
     exon            630..720
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            721..864
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            865..972
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1089
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1184
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1257
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1294
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1391
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..2301
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            2302..2434
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            2435..2543
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     exon            2544..5066
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3825..3830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="hexamer: AATAAA"
     polyA_site      3849
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="major polyA site"
     regulatory      4449..4454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="hexamer: AGTAAA"
     polyA_site      4468
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
     regulatory      5027..5032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
                     /note="hexamer: AATAAA"
     polyA_site      5066
                     /gene="HPS4"
                     /gene_synonym="BLOC3S2; LE"
ORIGIN      
        1 ctctctgccg cgcgcgcagg tacggggcag aagtcgcagg tacccagctg ctgcccacat
       61 ttctggtcca gagtcccgaa ccccgagcac tgggatgcct ggctactccg agccaaggca
      121 ctgatgtttg aactggaaac ttcaaaacgt ttaataagag tcttcaggat gggtttgaac
      181 tagacaagct agaaatttct ttagaacacc agctctagca tgcatctccc acttttggct
      241 ttcctggaga ggagcttgaa gaggtggttc tgcagacagc cacagtgata cttaggaaac
      301 cagaggaatg gatttgactt ttctgctagg attctctgtt atagtttctc cctgagttgt
      361 aagaggcatg gaaatataca tgaaactgaa gaacctgcaa ggaagggaag tggaactttc
      421 catgctgagt gaaaactaac caagtggcag ttgtgactga aaacactgaa acctaccacg
      481 tccagattca ctggattggg ggatagagga acggtcacag ctagggagaa agaagtgata
      541 ccggaaaaga aaacctaaat gaagagaatg aggatgactg cacagtagat ggccacctct
      601 acctccacag aggcaaagtc agcctcgtgg tggaattatt tttttcttta tgatggttcc
      661 aaggtaaagg aagaaggcga tccaacaaga gctggcattt gttactttta tccttcccag
      721 accctgctag accaacagga gttgctttgt ggacagattg ctggagttgt ccgctgtgtt
      781 tctgacattt ctgactctcc tcctactctt gttcgtctga gaaaactgaa gtttgccata
      841 aaagttgatg gagattacct ttgggtgctg ggctgtgctg tggagctccc tgatgtcagc
      901 tgcaagcggt ttctggatca gctagttgga ttctttaatt tttacaatgg acctgtttcc
      961 ctagcttatg agaactgttc tcaggaagaa ctgagcacgg agtgggacac cttcatcgag
     1021 caaattctga aaaacaccag tgatctgcat aagattttca attccctctg gaacttggac
     1081 caaactaaag tggagcccct gttgttgctg aaggcagccc gcattctgca gacctgccag
     1141 cgctcgcctc acattctcgc tggctgcatc ctctataaag gactgattgt cagcacccaa
     1201 ctcccgccct ccctcaccgc caaggtcctg cttcaccgaa cagcacctca ggagcagaga
     1261 ctccctacgg gagaggatgc cccgcaggaa catggagcgg cattgccccc gaatgtccag
     1321 attatccctg tttttgtgac caaagaggaa gccattagtc tccacgagtt cccggtggaa
     1381 cagatgacaa ggtctctagc atctccagca ggactccagg atggttcagc ccagcaccat
     1441 ccaaagggtg ggagcacatc tgccctgaaa gaaaacgcca ctggccatgt ggaatccatg
     1501 gcctggacca ccccagatcc cacatcccct gacgaagctt gtccagatgg caggaaggag
     1561 aacggatgct tgtctggcca tgatctggag agcatcaggc ccgcaggact gcacaactct
     1621 gccaggggtg aggttcttgg cctcagctcc tccctgggga aggaactagt ctttctccaa
     1681 gaagaactcg acttgtctga aatccacatt ccagaggctc aggaagtgga aatggcctca
     1741 ggtcattttg ccttcctaca tgtgcctgtt ccagatggca gggctcctta ctgcaaggca
     1801 tctctcagcg cctccagcag cctggaaccc acgcctcctg aggacacagc catcagcagc
     1861 ttgcgccctc cctctgctcc tgagatgctg acccagcatg gagcccaaga gcagctcgaa
     1921 gaccatcctg gccatagcag ccaagccccc attcccagag cagaccctct ccccagaagg
     1981 acccgcaggc ccttgttatt gcctcgctta gatccaggac agagaggaaa caagcttccc
     2041 acgggggaac aaggcctgga tgaggatgtt gatggggtct gtgaaagcca cgcagcccct
     2101 ggtctggaat gcagttcagg ctcagcaaac tgtcagggtg ctggcccctc tgcagatgga
     2161 atcagctcca ggctgacacc agcagagtcc tgcatggggc tcgtgaggat gaatctctac
     2221 actcactgcg tcaaagggct ggtgctgtcc ctgctggctg aggagccgct gctgggagac
     2281 agcgcagcca tagaggaagt gtaccacagc agcctggctt cactgaatgg gctggaagtc
     2341 cacctgaaag agacgctgcc cagggatgag gcagcctcca cgagcagcac ctacaacttc
     2401 acacattacg accgcattca gagcttgctg atggcaaacc tgccgcaggt ggccaccccg
     2461 caggatcgcc gcttcctcca ggccgtcagc ctgatgcata gcgaatttgc ccagctgccc
     2521 gcgctttatg aaatgactgt cagaaatgcc tccacggctg tgtacgcctg ttgcaacccc
     2581 atccaggaga catatttcca gcagctggca cctgcagcac ggagctccgg cttcccaaac
     2641 cctcaggatg gcgccttcag cctctccggc aaagcaaagc agaagctgct gaagcacggg
     2701 gtgaacttgc tctgaactgc acccaggagg tgactgggaa ggagaaaacc agcaaaggaa
     2761 gctctgcctt ttataattga aaaggcccct ctattttatt tttcttgaaa acattccctt
     2821 ttttaggaac caaatgatat ttgagttttt gttattcctt ttgcagattg ggatgtgttt
     2881 tgggggcagg ggttagttct tcaggtcggc agacccagag cacttgataa agaactgtat
     2941 ttaatcggta gtgttggggc cgggacgggc ttggctccct ctctgccata ctgagcctga
     3001 ggtatttcat atctcctgct gttccatccc agcttgaatt ggtgccacaa gcttccaagt
     3061 tggcattttt tctagaacct gatcgtccac tagcccagag tgtgtgtgtt caacccccac
     3121 accaggtggt ggtaggcggt gtgactgcac agcgaggtgc cggatctgtg agcaggccga
     3181 ctccactccc acgccgcagg taggtttctc cagtgcgctc ttgctgggag gtccggatcg
     3241 ttcctgcagg gaagcggcag cacacggaga ccacttggtt gaattctgtt ggaactctac
     3301 tcaaatctag gggcgtcttc tttggaccca caatgggggc aagccttaat aatatggaag
     3361 ggagtttggg ctttagagat ccctttataa aagctctggg ggctgagccc tgagaattca
     3421 gtgacaacag gaccaacctg cgctgccttt gactacaagt gggccgtgca gctggttcct
     3481 ctcgagcgag tgtccctaaa taggagttta caagatgtct gggggtaaaa gcactgtgct
     3541 tttcagtggt ggctgcgtga aagggagcga cactcagctg tgtgttcctg ggcttgtgtg
     3601 gtacttagaa cctcagttct attacgttat agtcagacat ttttttgaca gtatgagaca
     3661 gactgcagga tgaaaatatt tgtcaaaatc ttaactgaat gtttactgga agtacttgag
     3721 attccatttg agagttgtat tgttaataat ttcatgtcag tgaactgata tctgatgttt
     3781 atgatatggt gtctttttct tgaaacaagc ttccaagggc tagaaataaa atagccaaaa
     3841 aatgctggag ttctgagtaa ttaaatggca gcattttttt gtgacaaagg taagggttaa
     3901 gacagtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgcgcgcgc gcgcgcgcgc
     3961 gtaacgtggg cgcatccctc ttttccttcc ctgggttcag tgtggctggg taaggaccgt
     4021 ctgtttgtag ggctgccagg ctgcagcctg ctgctccagg gagcaccagc tgcagctgat
     4081 ccaatacacc aagcctgtgt ctccctcttc tatcacctct ctccaggatc tctgctgtct
     4141 cttggatccc atctgcctag atggaagagg atcctatccg aagctaggat aaatgttgtc
     4201 ttactcctct gctatgttct cccagaaaaa attgattaca agttctctgc tgtggttgct
     4261 gcagctccag gaagtccccg caatgtctca cgttgtcttt gaccagtggt ccccagtacc
     4321 aggccagcga agacaacttt ataatgtcat ttgtgttgtg aaaattcttc cactgaccca
     4381 aaatggaacc gtacaaagcc tatccgtgta tatggaaaag tctcatgcac ctggattaac
     4441 tcagaaaaag taaagtcctg aaacttcact ttgcaggtgt gcccctttct ttcctccttt
     4501 gatcctgctt agtttctgca gtggaggttc tgctcagagc cccagggcac tggcagctgc
     4561 agccgtcatc tctaaagctt ggtaactgtg gcccagaggc tgcagagaag aaacacttaa
     4621 cccgctgttt tcccgttttt taatatttca gaggtttcag ggggtcactc aggacacggt
     4681 taatcccaca gccccaggcc catcccctca aaattagcgc ccccagagta cgggccaagc
     4741 gacggacagc caagcagcat gttcttgctg gaatgggcac cacaacctct tatggccatg
     4801 tttcccaagg gaaggcagtg tgcaggacag cctgcccacc ctggactcct agttgacacc
     4861 gagtgccact gtcagtgatc caggaccaca gattctagtg actcttcagg gcagaaaagc
     4921 ctctgttttg gcttcctctg tgccagccat ctgccacctg tgaactgtaa ggataaaggt
     4981 cgcatgagtg attaatagtg gtgtgttagt ccgttctcac ggttctaata aagacatacc
     5041 cgagactggg tactttataa aggaaa
//
