LOCUS       NM_009681               1520 bp    mRNA    linear   ROD 11-FEB-2025
DEFINITION  Mus musculus adaptor-related protein complex 3, sigma 1 subunit
            (Ap3s1), transcript variant 1, mRNA.
ACCESSION   NM_009681
VERSION     NM_009681.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1520)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1520)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1520)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   4  (bases 1 to 1520)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   5  (bases 1 to 1520)
  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   6  (bases 1 to 1520)
  AUTHORS   Gwynn,B., Ciciotte,S.L., Hunter,S.J., Washburn,L.L., Smith,R.S.,
            Andersen,S.G., Swank,R.T., Dell'Angelica,E.C., Bonifacino,J.S.,
            Eicher,E.M. and Peters,L.L.
  TITLE     Defects in the cappuccino (cno) gene on mouse chromosome 5 and
            human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent
            mechanism
  JOURNAL   Blood 96 (13), 4227-4235 (2000)
   PUBMED   11110696
REFERENCE   7  (bases 1 to 1520)
  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   8  (bases 1 to 1520)
  AUTHORS   Odorizzi,G., Cowles,C.R. and Emr,S.D.
  TITLE     The AP-3 complex: a coat of many colours
  JOURNAL   Trends Cell Biol 8 (7), 282-288 (1998)
   PUBMED   9714600
  REMARK    Review article
REFERENCE   9  (bases 1 to 1520)
  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   10 (bases 1 to 1520)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC123927.3, AK152100.1 and
            AK137489.1.
            
            On Dec 12, 2014 this sequence version replaced NM_009681.4.
            
            Summary: This gene encodes the sigma subunit of the
            heterotetrameric adaptor protein complex AP-3 which is involved in
            the formation of specialized lysosome-related compartments such as
            melanosomes. Alternate splicing of this gene results in multiple
            transcript variants encoding different isoforms. Pseudogenes of
            this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by
            RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) represents the shorter
            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 :: AK137489.1, BC108327.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AC123927.3         89083-89112
            31-790              AK152100.1         2-761
            791-1520            AK137489.1         751-1480
FEATURES             Location/Qualifiers
     source          1..1520
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 24.77 cM"
     gene            1..1520
                     /gene="Ap3s1"
                     /note="adaptor-related protein complex 3, sigma 1 subunit"
                     /db_xref="GeneID:11777"
                     /db_xref="MGI:MGI:1337062"
     exon            1..206
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..719
                     /gene="Ap3s1"
                     /note="isoform 1 is encoded by transcript variant 1; AP-3
                     complex subunit sigma-1; sigma-3A-adaptin; sigma-adaptin
                     3a; AP-3 complex sigma-3A subunit; adapter-related protein
                     complex 3 sigma-1 subunit; adaptor-related protein complex
                     AP-3, sigma 1 subunit"
                     /codon_start=1
                     /product="AP-3 complex subunit sigma-1 isoform 1"
                     /protein_id="NP_033811.1"
                     /db_xref="CCDS:CCDS29236.1"
                     /db_xref="GeneID:11777"
                     /db_xref="MGI:MGI:1337062"
                     /translation="MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDE
                     NVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFE
                     NVCELDLIFHVDKVHNILAEMVMGGMVLETNMNEIVTQIDAQNKLEKSEAGLAGAPAR
                     AVSAVKNMNLPEIPRNINIGDISIKVPNLPSFK"
     exon            207..298
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     exon            299..410
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     exon            411..482
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..590
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     exon            591..1520
                     /gene="Ap3s1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      856..861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ap3s1"
                     /note="hexamer: CATAAA"
     polyA_site      879
                     /gene="Ap3s1"
                     /note="major polyA site"
     regulatory      1287..1292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ap3s1"
                     /note="hexamer: AATAAA"
     polyA_site      1317
                     /gene="Ap3s1"
ORIGIN      
        1 ccctcggcgc gggagcgcgc gcgcgcgtgc gggagggggc gggtggggaa gccgcggctc
       61 gaagctcccg gaggcgaggc tcgcgcgccc gcccccgccc tggccccagc gcccacccgg
      121 tcggccccgg cccagccatg atcaaggcca tcctcatctt caacaaccac gggaagccgc
      181 ggctctccaa gttctaccag ccctatagtg aagacacgca acagcaaatc atcagggaga
      241 ctttccattt ggtgtctaag cgcgatgaga acgtttgtaa tttcctagaa ggaggattat
      301 taattggagg ctctgacaac aagctcattt acagacatta tgcaacacta tattttgtct
      361 tctgtgtgga ctcctcagaa agtgaacttg gcattttaga tctaattcaa gtatttgtgg
      421 aaacattaga caaatgtttt gaaaatgttt gtgaactgga tttaatattc catgtagaca
      481 aggttcataa tattcttgca gaaatggtga tggggggaat ggtattggag accaacatga
      541 atgagattgt cacacaaatt gatgcacaaa ataaactgga gaaatctgag gctggcttag
      601 caggagctcc agcccgtgct gtatcagctg taaagaatat gaatcttcct gagatcccaa
      661 gaaatattaa cattggtgac atcagtataa aagtgccaaa cctgccctct tttaaataag
      721 tattaaaaag gccactccca ggtaaaatcc agagggaacg tcatctaagt ttaccatgca
      781 attgtttacc aaaaatagtg aaggagactc ttaactttgc tcttggagtt aagtcaaggt
      841 actgtataga agctgcataa aatcagtatg gaagttcaat gttgcttttc ttgctcagtg
      901 attttaaaga aattgactag ctcccgtgtg attttgtttt gttttgtttt tcttttcttt
      961 tctaaattgc attcctatgc ccacataaag gcatgcctct atatattggc tattacagta
     1021 tttcgaaaag tgagatgttt ctttaattat gtacaaccca aaatgttgat gttttgtatg
     1081 gatcacaagt gcagcattct ctaattcttt ctgctgtttg tcacaattgt tatttaaaga
     1141 accaagtatg tattgcatga aaacatgacc ttttctttag tttaaataaa ctccaaggta
     1201 actggacttc taaagtacct ttctgttttg cttggtatct actttagcaa taattttttt
     1261 ttacaatctt ctgactcaac aaagtaaata aaagtatatt ttcccactgt taagcaactg
     1321 tcagtgttga ctttttcaat tcatactcac gtttttattt ctcagtggct cactgaacca
     1381 gtcagaaact gctctgtcaa agaccgagtg ttgtatctca ggctgtttat tttgtatgat
     1441 gagacttaca gtgggagatg gtgggtcttt ttcaaaagtg ttaaagatat gttttgtttt
     1501 tctataaata tccttgtctt
//
