LOCUS       NM_130787               3357 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens adaptor related protein complex 2 subunit alpha 1
            (AP2A1), transcript variant 2, mRNA.
ACCESSION   NM_130787
VERSION     NM_130787.3
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 3357)
  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   2  (bases 1 to 3357)
  AUTHORS   Adamopoulos,P.G., Kontos,C.K., Diamantopoulos,M.A. and Scorilas,A.
  TITLE     Molecular cloning of novel transcripts of the adaptor-related
            protein complex 2 alpha 1 subunit (AP2A1) gene, using
            Next-Generation Sequencing
  JOURNAL   Gene 678, 55-64 (2018)
   PUBMED   30081190
  REMARK    GeneRIF: Results revealed thirteen novel splice junctions of
            previously annotated exons. Consecutive nested PCRs led to the
            determination of the primary structure of seventy-seven novel AP2A1
            transcripts, all of which were shown to comprise at least one
            premature translation termination codon, thus representing
            nonsense-mediated mRNA decay candidates.
REFERENCE   3  (bases 1 to 3357)
  AUTHORS   Smith,S.M., Baker,M., Halebian,M. and Smith,C.J.
  TITLE     Weak Molecular Interactions in Clathrin-Mediated Endocytosis
  JOURNAL   Front Mol Biosci 4, 72 (2017)
   PUBMED   29184887
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3357)
  AUTHORS   Jacob,R.A., Johnson,A.L., Pawlak,E.N., Dirk,B.S., Van
            Nynatten,L.R., Haeryfar,S.M.M. and Dikeakos,J.D.
  TITLE     The interaction between HIV-1 Nef and adaptor protein-2 reduces
            Nef-mediated CD4+ T cell apoptosis
  JOURNAL   Virology 509, 1-10 (2017)
   PUBMED   28577469
  REMARK    GeneRIF: AP-2alpha depletion enhanced apoptosis, demonstrating that
            disrupting the HIV-1 Nef:AP-2alpha interaction limits Nef-mediated
            apoptosis.
REFERENCE   5  (bases 1 to 3357)
  AUTHORS   Zhao,Z., Sagare,A.P., Ma,Q., Halliday,M.R., Kong,P., Kisler,K.,
            Winkler,E.A., Ramanathan,A., Kanekiyo,T., Bu,G., Owens,N.C.,
            Rege,S.V., Si,G., Ahuja,A., Zhu,D., Miller,C.A., Schneider,J.A.,
            Maeda,M., Maeda,T., Sugawara,T., Ichida,J.K. and Zlokovic,B.V.
  TITLE     Central role for PICALM in amyloid-beta blood-brain barrier
            transcytosis and clearance
  JOURNAL   Nat Neurosci 18 (7), 978-987 (2015)
   PUBMED   26005850
  REMARK    Erratum:[Nat Neurosci. 2024 Jan;27(1):208. doi:
            10.1038/s41593-023-01509-y.. PMID: 37985802]
REFERENCE   6  (bases 1 to 3357)
  AUTHORS   Okabayashi,Y., Sugimoto,Y., Totty,N.F., Hsuan,J., Kido,Y.,
            Sakaguchi,K., Gout,I., Waterfield,M.D. and Kasuga,M.
  TITLE     Interaction of Shc with adaptor protein adaptins
  JOURNAL   J Biol Chem 271 (9), 5265-5269 (1996)
   PUBMED   8617812
REFERENCE   7  (bases 1 to 3357)
  AUTHORS   Page,L.J. and Robinson,M.S.
  TITLE     Targeting signals and subunit interactions in coated vesicle
            adaptor complexes
  JOURNAL   J Cell Biol 131 (3), 619-630 (1995)
   PUBMED   7593184
REFERENCE   8  (bases 1 to 3357)
  AUTHORS   Li,C., Ullrich,B., Zhang,J.Z., Anderson,R.G., Brose,N. and
            Sudhof,T.C.
  TITLE     Ca(2+)-dependent and -independent activities of neural and
            non-neural synaptotagmins
  JOURNAL   Nature 375 (6532), 594-599 (1995)
   PUBMED   7791877
REFERENCE   9  (bases 1 to 3357)
  AUTHORS   Garcia,J.V. and Miller,A.D.
  TITLE     Serine phosphorylation-independent downregulation of cell-surface
            CD4 by nef
  JOURNAL   Nature 350 (6318), 508-511 (1991)
   PUBMED   2014052
REFERENCE   10 (bases 1 to 3357)
  AUTHORS   Robinson,M.S.
  TITLE     Cloning of cDNAs encoding two related 100-kD coated vesicle
            proteins (alpha-adaptins)
  JOURNAL   J Cell Biol 108 (3), 833-842 (1989)
   PUBMED   2564002
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011495.8 and AC006942.1.
            
            On Jun 2, 2019 this sequence version replaced NM_130787.2.
            
            Summary: This gene encodes the alpha 1 adaptin subunit of the
            adaptor protein 2 (AP-2) complex found in clathrin coated vesicles.
            The AP-2 complex is a heterotetramer consisting of two large
            adaptins (alpha or beta), a medium adaptin (mu), and a small
            adaptin (sigma). The complex is part of the protein coat on the
            cytoplasmic face of coated vesicles which links clathrin to
            receptors in vesicles. Alternative splicing of this gene results in
            two transcript variants encoding two different isoforms. A third
            transcript variant has been described, but its full length nature
            has not been determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks a 66 nt internal exon
            but maintains the reading frame, as compared to variant 1. Isoform
            2 lacks 22 internal aa as compared to isoform 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 :: SRR7346977.1900787.1, AL136925.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354293.10/ ENSP00000346246.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-200               AC011495.8         192811-193010
            201-269             AC011495.8         207567-207635
            270-412             AC011495.8         207757-207899
            413-606             AC011495.8         208341-208534
            607-736             AC006942.1         7553-7682
            737-838             AC006942.1         8609-8710
            839-947             AC006942.1         11248-11356
            948-1098            AC006942.1         14420-14570
            1099-1267           AC006942.1         14945-15113
            1268-1405           AC006942.1         15247-15384
            1406-1588           AC006942.1         15586-15768
            1589-1686           AC006942.1         16579-16676
            1687-1918           AC006942.1         17008-17239
            1919-2086           AC006942.1         17340-17507
            2087-2247           AC006942.1         17599-17759
            2248-2304           AC006942.1         18567-18623
            2305-2387           AC006942.1         18725-18807
            2388-2477           AC006942.1         18905-18994
            2478-2601           AC006942.1         21071-21194
            2602-2718           AC006942.1         21279-21395
            2719-2788           AC006942.1         21490-21559
            2789-2923           AC006942.1         21737-21871
            2924-3357           AC006942.1         22299-22732
FEATURES             Location/Qualifiers
     source          1..3357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3357
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /note="adaptor related protein complex 2 subunit alpha 1"
                     /db_xref="GeneID:160"
                     /db_xref="HGNC:HGNC:561"
                     /db_xref="MIM:601026"
     exon            1..200
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            201..269
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            270..412
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            413..606
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            607..736
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            737..838
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            839..947
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1098
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1267
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1405
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1588
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1686
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1687..1918
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..2086
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2087..2247
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2248..2304
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2305..2387
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2388..2477
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2478..2601
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2602..2718
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2719..2788
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2789..2923
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     exon            2924..3357
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3336..3341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /note="hexamer: AATAAA"
     polyA_site      3357
                     /gene="AP2A1"
                     /gene_synonym="ADTAA; AP2-ALPHA; CLAPA1"
                     /note="major polyA site"
ORIGIN      
        1 gccagccagc cctccccgcg gccggctcgg ctccttggcg ctgcctgggg tcctttccgc
       61 ccggtccccg cttgccagcc cccgctgctc tgtgccctgt ccggccaggc ctggagccga
      121 caccaccgcc atcatgccgg ccgtgtccaa gggcgatggg atgcgggggc tcgcggtgtt
      181 catctccgac atccggaact gtaagagcaa agaggcggaa attaagagaa tcaacaagga
      241 actggccaac atccgctcca agttcaaagg agacaaagcc ttggatggct acagtaagaa
      301 aaaatatgtg tgtaaactgc ttttcatctt cctgcttggc catgacattg actttgggca
      361 catggaggct gtgaatctgt tgagttccaa taaatacaca gagaagcaaa taggttacct
      421 gttcatttct gtgctggtga actcgaactc ggagctgatc cgcctcatca acaacgccat
      481 caagaatgac ctggccagcc gcaaccccac cttcatgtgc ctggccctgc actgcatcgc
      541 caacgtgggc agccgggaga tgggcgaggc ctttgccgct gacatccccc gcatcctggt
      601 ggccggggac agcatggaca gtgtcaagca gagtgcggcc ctgtgcctcc ttcgactgta
      661 caaggcctcg cctgacctgg tgcccatggg cgagtggacg gcgcgtgtgg tacacctgct
      721 caatgaccag cacatgggtg tggtcacggc cgccgtcagc ctcatcacct gtctctgcaa
      781 gaagaaccca gatgacttca agacgtgcgt ctctctggct gtgtcgcgcc tgagccggat
      841 cgtctcctct gcctccaccg acctccagga ctacacctac tacttcgtcc cagcaccctg
      901 gctctcggtg aagctcctgc ggctgctgca gtgctacccg cctccagagg atgcggctgt
      961 gaaggggcgg ctggtggaat gtctggagac tgtgctcaac aaggcccagg agccccccaa
     1021 atccaagaag gtgcagcatt ccaacgccaa gaacgccatc ctcttcgaga ccatcagcct
     1081 catcatccac tatgacagtg agcccaacct cctggttcgg gcctgcaacc agctgggcca
     1141 gttcctgcag caccgggaga ccaacctgcg ctacctggcc ctggagagca tgtgcacgct
     1201 ggccagctcc gagttctccc atgaagccgt caagacgcac attgacaccg tcatcaatgc
     1261 cctcaagacg gagcgggacg tcagcgtgcg gcagcgggcg gctgacctcc tctacgccat
     1321 gtgtgaccgg agcaatgcca agcagatcgt gtcggagatg ctgcggtacc tggagacggc
     1381 agactacgcc atccgcgagg agatcgtcct gaaggtggcc atcctggccg agaagtacgc
     1441 cgtggactac agctggtacg tggacaccat cctcaacctc atccgcattg cgggcgacta
     1501 cgtgagtgag gaggtgtggt accgtgtgct acagatcgtc accaaccgtg atgacgtcca
     1561 gggctatgcc gccaagaccg tctttgaggc gctccaggcc cctgcctgtc acgagaacat
     1621 ggtgaaggtt ggcggctaca tccttgggga gtttgggaac ctgattgctg gggacccccg
     1681 ctccagcccc ccagtgcagt tctccctgct ccactccaag ttccatctgt gcagcgtggc
     1741 cacgcgggcg ctgctgctgt ccacctacat caagttcatc aacctcttcc ccgagaccaa
     1801 ggccaccatc cagggcgtcc tgcgggccgg ctcccagctg cgcaatgctg acgtggagct
     1861 gcagcagcga gccgtggagt acctcaccct cagctcagtg gccagcaccg acgtcctggc
     1921 cacggtgctg gaggagatgc cgcccttccc cgagcgcgag tcgtccatcc tggccaagct
     1981 gaaacgcaag aaggggccag gggccggcag cgccctggac gatggccgga gggaccccag
     2041 cagcaacgac atcaacgggg gcatggagcc cacccccagc actgtgtcga cgccctcgcc
     2101 ctccgccgac ctcctggggc tgcgggcagc ccctcccccg gcagcacccc cggcttctgc
     2161 aggagcaggg aaccttctgg tggacgtctt cgatggcccg gccgcccagc ccagcctggg
     2221 gcccaccccc gaggaggcct tcctcagccc aggtcctgag gacatcggcc ctcccattcc
     2281 ggaagccgat gagttgctga ataagtttgt gtgtaagaac aacggggtcc tgttcgagaa
     2341 ccagctgctg cagatcggag tcaagtcaga gttccgacag aacctgggcc gcatgtatct
     2401 cttctatggc aacaagacct cggtgcagtt ccagaatttc tcacccactg tggttcaccc
     2461 gggagacctc cagactcagc tggctgtgca gaccaagcgc gtggcggcgc aggtggacgg
     2521 cggcgcgcag gtgcagcagg tgctcaatat cgagtgcctg cgggacttcc tgacgccccc
     2581 gctgctgtcc gtgcgcttcc ggtacggtgg cgccccccag gccctcaccc tgaagctccc
     2641 agtgaccatc aacaagttct tccagcccac cgagatggcg gcccaggatt tcttccagcg
     2701 ctggaagcag ctgagcctcc ctcaacagga ggcgcagaaa atcttcaaag ccaaccaccc
     2761 catggacgca gaagttacta aggccaagct tctggggttt ggctctgctc tcctggacaa
     2821 tgtggacccc aaccctgaga acttcgtggg ggcggggatc atccagacta aagccctgca
     2881 ggtgggctgt ctgcttcggc tggagcccaa tgcccaggcc cagatgtacc ggctgaccct
     2941 gcgcaccagc aaggagcccg tctcccgtca cctgtgtgag ctgctggcac agcagttctg
     3001 agccctggac tctgccccgg gggatgtggc cggcactggg cagccccttg gactgaggca
     3061 gttttggtgg atgggggacc tccactggtg acagagaaga caccagggtt tgggggatgc
     3121 ctgggacttt cctccggcct tttgtatttt tatttttgtt catctgctgc tgtttacatt
     3181 ctggggggtt agggggagtc cccctccctc cctttccccc ccaagcacag aggggagagg
     3241 ggccagggaa gtggatgtct cctcccctcc caccccaccc tgttgtagcc cctcctaccc
     3301 cctccccatc caggggctgt gtattattgt gagcgaataa acagagagac gctaaca
//
