LOCUS       NM_001318094            1168 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens adaptor related protein complex 3 subunit sigma 1
            (AP3S1), transcript variant 6, mRNA.
ACCESSION   NM_001318094 XM_011543137
VERSION     NM_001318094.2
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 1168)
  AUTHORS   Bultema,J.J. and Di Pietro,S.M.
  TITLE     Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous
            lysosome biogenesis machinery to synthesize specialized
            lysosome-related organelles
  JOURNAL   Small GTPases 4 (1), 16-21 (2013)
   PUBMED   23247405
  REMARK    Review article
REFERENCE   2  (bases 1 to 1168)
  AUTHORS   Zhou,J.B., Yang,J.K., Zhao,L. and Xin,Z.
  TITLE     Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type
            2 diabetes in the Chinese Northern Han population: a case-control
            study and meta-analysis
  JOURNAL   Med Sci Monit 16 (6), BR179-BR183 (2010)
   PUBMED   20512086
  REMARK    GeneRIF: KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in
            risk of type 2 diabetes in the Chinese Northern Han population
            GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 1168)
  AUTHORS   Petrenko,A.A., Pavlova,L.S., Karseladze,A.I., Kisseljov,F.L. and
            Kisseljova,N.P.
  TITLE     Downregulation of genes encoding for subunits of adaptor complex-3
            in cervical carcinomas
  JOURNAL   Biochemistry (Mosc) 71 (10), 1153-1160 (2006)
   PUBMED   17125464
REFERENCE   4  (bases 1 to 1168)
  AUTHORS   Theos,A.C., Tenza,D., Martina,J.A., Hurbain,I., Peden,A.A.,
            Sviderskaya,E.V., Stewart,A., Robinson,M.S., Bennett,D.C.,
            Cutler,D.F., Bonifacino,J.S., Marks,M.S. and Raposo,G.
  TITLE     Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting
            from endosomes to melanosomes
  JOURNAL   Mol Biol Cell 16 (11), 5356-5372 (2005)
   PUBMED   16162817
REFERENCE   5  (bases 1 to 1168)
  AUTHORS   Seong,E., Wainer,B.H., Hughes,E.D., Saunders,T.L., Burmeister,M.
            and Faundez,V.
  TITLE     Genetic analysis of the neuronal and ubiquitous AP-3 adaptor
            complexes reveals divergent functions in brain
  JOURNAL   Mol Biol Cell 16 (1), 128-140 (2005)
   PUBMED   15537701
REFERENCE   6  (bases 1 to 1168)
  AUTHORS   VanRenterghem,B., Morin,M., Czech,M.P. and Heller-Harrison,R.A.
  TITLE     Interaction of insulin receptor substrate-1 with the sigma3A
            subunit of the adaptor protein complex-3 in cultured adipocytes
  JOURNAL   J Biol Chem 273 (45), 29942-29949 (1998)
   PUBMED   9792713
REFERENCE   7  (bases 1 to 1168)
  AUTHORS   Dell'Angelica,E.C., Klumperman,J., Stoorvogel,W. and
            Bonifacino,J.S.
  TITLE     Association of the AP-3 adaptor complex with clathrin
  JOURNAL   Science 280 (5362), 431-434 (1998)
   PUBMED   9545220
REFERENCE   8  (bases 1 to 1168)
  AUTHORS   Simpson,F., Peden,A.A., Christopoulou,L. and Robinson,M.S.
  TITLE     Characterization of the adaptor-related protein complex, AP-3
  JOURNAL   J Cell Biol 137 (4), 835-845 (1997)
   PUBMED   9151686
REFERENCE   9  (bases 1 to 1168)
  AUTHORS   Dell'Angelica,E.C., Ohno,H., Ooi,C.E., Rabinovich,E., Roche,K.W.
            and Bonifacino,J.S.
  TITLE     AP-3: an adaptor-like protein complex with ubiquitous expression
  JOURNAL   EMBO J 16 (5), 917-928 (1997)
   PUBMED   9118953
REFERENCE   10 (bases 1 to 1168)
  AUTHORS   Watanabe,T.K., Shimizu,F., Nagata,M., Takaichi,A., Fujiwara,T.,
            Nakamura,Y., Takahashi,E. and Hirai,Y.
  TITLE     Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of
            CLAPS3, a gene encoding a novel clathrin-adaptor small chain
  JOURNAL   Cytogenet Cell Genet 73 (3), 214-217 (1996)
   PUBMED   8697810
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP368651.1, BX647735.1,
            BX394598.2 and BC000804.1.
            
            On Jun 3, 2019 this sequence version replaced NM_001318094.1.
            
            Summary: This gene encodes a subunit of the AP3 adaptor complex.
            This complex functions in the formation of subcellular vesicles
            budded from the Golgi body. Several related pseudogenes of this
            gene have been found. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (6) lacks two alternate in-frame
            exons compared to variant 7. The encoded isoform (6) is shorter
            than isoform 7.
            
            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 :: SRR5189655.25794.1,
                                           SRR1163657.397026.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BP368651.1         329-340
            13-92               BX647735.1         3-82
            93-921              BX394598.2         1-829
            922-1168            BC000804.1         1011-1257
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.3-q23.1"
     gene            1..1168
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /note="adaptor related protein complex 3 subunit sigma 1"
                     /db_xref="GeneID:1176"
                     /db_xref="HGNC:HGNC:2013"
                     /db_xref="MIM:601507"
     exon            1..172
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..577
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /note="isoform 6 is encoded by transcript variant 6;
                     clathrin-associated/assembly/adaptor protein, small 3
                     (22kD); AP-3 complex subunit sigma-1; sigma-adaptin 3a;
                     adapter-related protein complex 3 subunit sigma-1;
                     clathrin-associated/assembly/adapter protein, small 3;
                     clathrin adaptor complex AP3, sigma-3A subunit; adaptor
                     related protein complex 3 sigma 1 subunit"
                     /codon_start=1
                     /product="AP-3 complex subunit sigma-1 isoform 6"
                     /protein_id="NP_001305023.1"
                     /db_xref="GeneID:1176"
                     /db_xref="HGNC:HGNC:2013"
                     /db_xref="MIM:601507"
                     /translation="MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDE
                     NVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFE
                     NVCELDLIFHVDKAGLAGAPARAVSAVKNMNLPEIPRNINIGDISIKVPNLPSFK"
     exon            173..264
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /inference="alignment:Splign:2.1.0"
     exon            265..376
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /inference="alignment:Splign:2.1.0"
     exon            377..448
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /inference="alignment:Splign:2.1.0"
     exon            449..1168
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1142..1147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /note="hexamer: AATAAA"
     polyA_site      1168
                     /gene="AP3S1"
                     /gene_synonym="CLAPS3; Sigma3A"
                     /note="major polyA site"
ORIGIN      
        1 agggggcggg tggggaagga tcgcaggcga gattacgagg cgaggctcgc gcgcccgccc
       61 ccgccctggc ccccagtgcc cacccggtcg gcccggcaca gccatgatca aggcgatcct
      121 aatcttcaac aaccacggga agccgcggct ctccaagttc taccagccct acagtgaaga
      181 tacacaacag caaatcatca gggagacttt ccatttggta tctaagagag atgaaaatgt
      241 ttgtaatttc ctagaaggag gattattaat tggaggatct gacaacaaac tgatttatag
      301 acattatgca acgttatatt ttgtcttctg tgtggattct tcagaaagtg aacttggcat
      361 tttagatcta attcaagtat ttgtggaaac attagacaaa tgttttgaaa atgtctgtga
      421 gctggatttg attttccatg tagacaaggc tggcttagca ggagctccag cccgtgctgt
      481 atcagctgta aagaatatga atcttcctga gatcccaaga aatattaaca ttggtgacat
      541 cagtataaaa gtgccaaacc tgccctcttt taaataaaaa tgtaaaaagg ccactcccag
      601 gtaaaatcca gggggaagag tcatctaagt ttaccatgca gttgtttacc aaaaatagag
      661 gaggagagtc ttaacttttg ctcttggatt taagtcaagg tactgtatag aagttgtgta
      721 aaatcagtat gaaagttcaa tgttgctgtt cttgctcagt gattttaaag aaattgagta
      781 gttcctatgt gatttttttt tttcttttct aaactgcatt cctgtgccca cctacggcat
      841 gcctctatgt attggctact acagtgtttt aaaaagtgtt tcagatattt ctctaattat
      901 gtacaaccta aaatgttggt gttttgtatg gatcacaagt gcagcattcc ttaattcctt
      961 ctgctatatg tcacacagtt gttatttgga gaaccaagta tgtattgcat gaaaacatta
     1021 tgactttttt ctcttagttt aaataaactc caaggtaact ggacttctaa agcacctttc
     1081 tgtttgcctg atatctactt tagcaataat tttttttaca accctctgac tcaacaaagt
     1141 aaataaaagt atattttatc actattaa
//
