LOCUS       NM_198613                798 bp    mRNA    linear   ROD 17-DEC-2024
DEFINITION  Mus musculus adaptor-related protein complex 2, sigma 1 subunit
            (Ap2s1), mRNA.
ACCESSION   NM_198613 XM_133198
VERSION     NM_198613.2
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 798)
  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 798)
  AUTHORS   Wen,Q.X., Luo,B., Xie,X.Y., Zhou,G.F., Chen,J., Song,L., Liu,Y.,
            Xie,S.Q., Chen,L., Li,K.Y., Xiang,X.J. and Chen,G.J.
  TITLE     AP2S1 regulates APP degradation through late endosome-lysosome
            fusion in cells and APP/PS1 mice
  JOURNAL   Traffic 24 (1), 20-33 (2023)
   PUBMED   36412210
  REMARK    GeneRIF: AP2S1 regulates APP degradation through late
            endosome-lysosome fusion in cells and APP/PS1 mice.
REFERENCE   3  (bases 1 to 798)
  AUTHORS   Hannan,F.M., Stevenson,M., Bayliss,A.L., Stokes,V.J., Stewart,M.,
            Kooblall,K.G., Gorvin,C.M., Codner,G., Teboul,L., Wells,S. and
            Thakker,R.V.
  TITLE     Ap2s1 mutation causes hypercalcaemia in mice and impairs
            interaction between calcium-sensing receptor and adaptor protein-2
  JOURNAL   Hum Mol Genet 30 (10), 880-892 (2021)
   PUBMED   33729479
  REMARK    GeneRIF: Ap2s1 mutation causes hypercalcaemia in mice and impairs
            interaction between calcium-sensing receptor and adaptor protein-2.
REFERENCE   4  (bases 1 to 798)
  AUTHORS   Azarnia Tehran,D., Lopez-Hernandez,T. and Maritzen,T.
  TITLE     Endocytic Adaptor Proteins in Health and Disease: Lessons from
            Model Organisms and Human Mutations
  JOURNAL   Cells 8 (11), 1345 (2019)
   PUBMED   31671891
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 798)
  AUTHORS   Gorvin,C.M., Rogers,A., Stewart,M., Paudyal,A., Hough,T.A.,
            Teboul,L., Wells,S., Brown,S.D., Cox,R.D. and Thakker,R.V.
  TITLE     N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1
            (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice
  JOURNAL   JBMR Plus 1 (1), 3-15 (2017)
   PUBMED   29479578
REFERENCE   6  (bases 1 to 798)
  AUTHORS   Distler,U., Schmeisser,M.J., Pelosi,A., Reim,D., Kuharev,J.,
            Weiczner,R., Baumgart,J., Boeckers,T.M., Nitsch,R., Vogt,J. and
            Tenzer,S.
  TITLE     In-depth protein profiling of the postsynaptic density from mouse
            hippocampus using data-independent acquisition proteomics
  JOURNAL   Proteomics 14 (21-22), 2607-2613 (2014)
   PUBMED   25211037
REFERENCE   7  (bases 1 to 798)
  AUTHORS   Biase,F.H., Cao,X. and Zhong,S.
  TITLE     Cell fate inclination within 2-cell and 4-cell mouse embryos
            revealed by single-cell RNA sequencing
  JOURNAL   Genome Res 24 (11), 1787-1796 (2014)
   PUBMED   25096407
REFERENCE   8  (bases 1 to 798)
  AUTHORS   Duncker,S.V., Franz,C., Kuhn,S., Schulte,U., Campanelli,D.,
            Brandt,N., Hirt,B., Fakler,B., Blin,N., Ruth,P., Engel,J.,
            Marcotti,W., Zimmermann,U. and Knipper,M.
  TITLE     Otoferlin couples to clathrin-mediated endocytosis in mature
            cochlear inner hair cells
  JOURNAL   J Neurosci 33 (22), 9508-9519 (2013)
   PUBMED   23719817
REFERENCE   9  (bases 1 to 798)
  AUTHORS   Rappoport,J.Z., Benmerah,A. and Simon,S.M.
  TITLE     Analysis of the AP-2 adaptor complex and cargo during
            clathrin-mediated endocytosis
  JOURNAL   Traffic 6 (7), 539-547 (2005)
   PUBMED   15941406
REFERENCE   10 (bases 1 to 798)
  AUTHORS   Collins,B.M., McCoy,A.J., Kent,H.M., Evans,P.R. and Owen,D.J.
  TITLE     Molecular architecture and functional model of the endocytic AP2
            complex
  JOURNAL   Cell 109 (4), 523-535 (2002)
   PUBMED   12086608
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK146584.1.
            
            On Nov 27, 2007 this sequence version replaced NM_198613.1.
            
            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 :: AK146584.1, BU604137.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-798               AK146584.1         2-799
FEATURES             Location/Qualifiers
     source          1..798
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 9.15 cM"
     gene            1..798
                     /gene="Ap2s1"
                     /note="adaptor-related protein complex 2, sigma 1 subunit"
                     /db_xref="GeneID:232910"
                     /db_xref="MGI:MGI:2141861"
     exon            1..95
                     /gene="Ap2s1"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..521
                     /gene="Ap2s1"
                     /note="Clathrin coat assembly protein AP17 (Clathrin coat
                     associated protein AP17) (Plasma membrane adaptor AP-2 17
                     kDa protein) (HA2 17 kDa subunit) (Clathrin assembly
                     protein 2 small chain) (UniProt|Q00380, evidence: FASTY,
                     100%ID, 100%length, match=426); putative; sigma2-adaptin;
                     sigma-adaptin 3b; clathrin coat assembly protein AP17;
                     clathrin coat-associated protein AP17; clathrin assembly
                     protein 2 small chain; adaptor protein complex AP-2
                     subunit sigma; plasma membrane adaptor AP-2 17 kDa
                     protein; adapter-related protein complex 2 sigma subunit;
                     clathrin assembly protein 2 sigma small chain;
                     adapter-related protein complex 2 subunit sigma;
                     adaptor-related protein complex 2 subunit sigma"
                     /codon_start=1
                     /product="AP-2 complex subunit sigma"
                     /protein_id="NP_941015.2"
                     /db_xref="CCDS:CCDS52042.1"
                     /db_xref="GeneID:232910"
                     /db_xref="MGI:MGI:2141861"
                     /translation="MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDA
                     KHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELD
                     LVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE"
     exon            96..245
                     /gene="Ap2s1"
                     /inference="alignment:Splign:2.1.0"
     exon            246..359
                     /gene="Ap2s1"
                     /inference="alignment:Splign:2.1.0"
     exon            360..419
                     /gene="Ap2s1"
                     /inference="alignment:Splign:2.1.0"
     exon            420..798
                     /gene="Ap2s1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      779..784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ap2s1"
                     /note="putative"
     polyA_site      798
                     /gene="Ap2s1"
                     /note="putative"
ORIGIN      
        1 agttctagcc ctgggcccca caactgcaag cagagccgga gccgccctgt tacagcggga
       61 cccgggcctc tggggtccag acaggggtcg ccatgatccg attcatcctt atccagaacc
      121 gggcaggcaa gacgcgcctg gccaagtggt acatgcagtt cgatgacgac gagaagcaga
      181 agctgatcga ggaggtgcac gccgtggtca ccgtcaggga tgccaagcac accaactttg
      241 tggagttccg gaacttcaag atcatctacc gacgctacgc tggcctctac ttctgcatct
      301 gcgtggatgt caacgacaac aatctggcct atctcgaggc catccacaac ttcgtagaag
      361 tgttaaatga atacttccac aatgtctgtg aactggacct ggtgttcaac ttctacaagg
      421 tttacacggt ggtagatgag atgttcctgg caggagagat ccgagagacc agccagacga
      481 aggtgctgaa gcagctgctg atgctgcagt ccctggagtg aggggggctc tgcccagccc
      541 ggcctgctgg accaacctgc ctgctcgtcc cctgcctgcc aggcctgagg cccaccctag
      601 cagccccttc ccttcctcag ctggcccaga ggaaggaccc ggcagggtct aggccacagg
      661 ggaggaggcc agaacccact gcctctgggc cctccgtgga tggcagaggc caccgtgatg
      721 tcccgagtaa ctgtgccatt gtcgtgtgat gctgtgagtg tgtgtgtgtg tagcccccaa
      781 taaacctgtg gtcctgcc
//
