LOCUS       NM_026193               2914 bp    mRNA    linear   ROD 31-DEC-2024
DEFINITION  Mus musculus adaptor-related protein complex AP-4, beta 1 (Ap4b1),
            transcript variant 1, mRNA.
ACCESSION   NM_026193 NM_019504
VERSION     NM_026193.2
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 2914)
  AUTHORS   Wiseman,J.P., Scarrott,J.M., Alves-Cruzeiro,J., Saffari,A.,
            Boger,C., Karyka,E., Dawes,E., Davies,A.K., Marchi,P.M., Graves,E.,
            Fernandes,F., Yang,Z.L., Coldicott,I., Hirst,J., Webster,C.P.,
            Highley,J.R., Hackett,N., Angyal,A., Silva,T., Higginbottom,A.,
            Shaw,P.J., Ferraiuolo,L., Ebrahimi-Fakhari,D. and Azzouz,M.
  TITLE     Pre-clinical development of AP4B1 gene replacement therapy for
            hereditary spastic paraplegia type 47
  JOURNAL   EMBO Mol Med 16 (11), 2882-2917 (2024)
   PUBMED   39358605
REFERENCE   2  (bases 1 to 2914)
  AUTHORS   Scarrott,J.M., Alves-Cruzeiro,J., Marchi,P.M., Webster,C.P.,
            Yang,Z.L., Karyka,E., Marroccella,R., Coldicott,I., Thomas,H. and
            Azzouz,M.
  TITLE     Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47
            displays motor dysfunction, aberrant brain morphology and ATG9A
            mislocalization
  JOURNAL   Brain Commun 5 (1), fcac335 (2023)
   PUBMED   36632189
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2914)
  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   4  (bases 1 to 2914)
  AUTHORS   Ivankovic,D., Drew,J., Lesept,F., White,I.J., Lopez Domenech,G.,
            Tooze,S.A. and Kittler,J.T.
  TITLE     Axonal autophagosome maturation defect through failure of ATG9A
            sorting underpins pathology in AP-4 deficiency syndrome
  JOURNAL   Autophagy 16 (3), 391-407 (2020)
   PUBMED   31142229
REFERENCE   5  (bases 1 to 2914)
  AUTHORS   Matsuda,S., Miura,E., Matsuda,K., Kakegawa,W., Kohda,K.,
            Watanabe,M. and Yuzaki,M.
  TITLE     Accumulation of AMPA receptors in autophagosomes in neuronal axons
            lacking adaptor protein AP-4
  JOURNAL   Neuron 57 (5), 730-745 (2008)
   PUBMED   18341993
REFERENCE   6  (bases 1 to 2914)
  AUTHORS   Hirst,J., Bright,N.A., Rous,B. and Robinson,M.S.
  TITLE     Characterization of a fourth adaptor-related protein complex
  JOURNAL   Mol Biol Cell 10 (8), 2787-2802 (1999)
   PUBMED   10436028
REFERENCE   7  (bases 1 to 2914)
  AUTHORS   Dell'Angelica,E.C., Mullins,C. and Bonifacino,J.S.
  TITLE     AP-4, a novel protein complex related to clathrin adaptors
  JOURNAL   J Biol Chem 274 (11), 7278-7285 (1999)
   PUBMED   10066790
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY129343.1, BC056200.2, AK007733.1 and BE630857.1.
            
            On Jul 23, 2009 this sequence version replaced NM_026193.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK007733.1, SRR1660817.286987.1
                                           [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,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-128               BY129343.1         1-128
            129-1127            BC056200.2         17-1015
            1128-2852           AK007733.1         1017-2741
            2853-2914           BE630857.1         1-62                c
FEATURES             Location/Qualifiers
     source          1..2914
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 45.52 cM"
     gene            1..2914
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /note="adaptor-related protein complex AP-4, beta 1"
                     /db_xref="GeneID:67489"
                     /db_xref="MGI:MGI:1337130"
     exon            1..541
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     CDS             429..2645
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /note="isoform a is encoded by transcript variant 1; AP-4
                     beta-4; AP-4 complex subunit beta-1; beta4-adaptin; beta
                     subunit of AP-4; AP-4 adapter complex subunit beta;
                     adapter-related protein complex 4 subunit beta-1; AP-4
                     adaptor complex subunit beta; adaptor-related protein
                     complex 4 subunit beta-1"
                     /codon_start=1
                     /product="AP-4 complex subunit beta-1 isoform a"
                     /protein_id="NP_080469.2"
                     /db_xref="CCDS:CCDS17696.1"
                     /db_xref="GeneID:67489"
                     /db_xref="MGI:MGI:1337130"
                     /translation="MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRHMTQGL
                     DMSDVFMEMVKASATVDIVQKKLVYLYMGTYAPLKPDLALLAINTLCKDCSDPNPMVR
                     GLALRSMCSLRMPGVQEYIQQPVVNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGAL
                     VNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEV
                     LNFLLRYQPRSEEELFDILNLLDSYLKSSSTGVVMGATKLFLILAKKFPHVQTDVLVR
                     VKGPLLAACSSESRELCFAALCHVRQVLHSLPGHFSSHYKKFFCSYSEPHYIKLQKVE
                     VLCELVNDENVQQVLEELRGYCTDVAADFAQAAIFAIGSIAKTYTDQCVQILTELLGL
                     RQEHITTVVVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGEKI
                     PNAPYVLEDFVDNVKSETFPAVKMELLTALMRLVLSRPAECQDMLGRLLHYCIEEEKD
                     MAVRDRGLFYYRLLLVGIDKVKQILCSPKSDPSLGLLEDQPERPVNSWASDFNTLAPV
                     YGRAHWATISKCQQVERHRLELPHNASFATSGHLISEENKEGAQEPDSDTLMLVPNLQ
                     LTAEYFEKTWLSLRVSYQQVFPWQGEVQPDTLQMALKVVNIQTIAMSRAGAQPWKAYL
                     SAQDDTGGLFLAELLLKPENSEMQISVKQSKARTESLHGFVSVLETVIGTVGDIKS"
     exon            542..766
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            767..897
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1045
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1542
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1626
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1730
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1938
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2220
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     exon            2221..2910
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2889..2894
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /note="hexamer: AATATA"
     polyA_site      2910
                     /gene="Ap4b1"
                     /gene_synonym="1810038H16Rik; Ap4b4"
                     /note="major polyA site"
ORIGIN      
        1 ggacctgcgc tcggcgctcg gcgcgacccg gaaagctgct ccttgtgtct cagggcgacg
       61 gggcgggatt tccgcaggaa gctgtctggg gtgtcctcgg ccactgggac tagattccca
      121 gggaggaggc tgtgctaggt ctttggcctt ttgctagtgt agaattcgta actgggccta
      181 gagagagttg agatctgctg ggcagagcca acggcctgtg ggtctccggg cggctcctga
      241 agggtcgggg ctcgcccgag gacccaagaa tgtgttccgc cctggggggc aggcacagca
      301 aagtgacatc tcgccgttag tgttttcact gactacatct cctttattca ggctcccaca
      361 tcgaaattag gaggagccca cgagttccct acgggtctgt ggaaactgtc ccgtgagtgt
      421 tggcgacgat gccatacctt ggctctgagg acgtggtgaa ggaactgaag aaggctctgt
      481 gtaaccctca tattcaggct gataggctgc gctaccggaa tgtcatccag cgagttatta
      541 ggcacatgac tcagggcttg gacatgtctg atgttttcat ggaaatggta aaggccagtg
      601 ccactgtaga tattgttcag aaaaagttgg tttatctgta tatgggcaca tacgcacctt
      661 taaaaccaga tctagcactc ttggccatca atacgctctg caaagactgc tcagacccca
      721 acccaatggt tcgaggactg gcactacgga gtatgtgtag cctcaggatg cctggtgtgc
      781 aggaatatat ccagcagcct gttgttaacg gtctgcgtga taaagcttca tatgtcagaa
      841 gagtagcagt cctcggctgt gccaaaatgc ataatcttca cggagactct gaagtggatg
      901 gtgctctcgt caatgagttg tacagtcttc tgcgtgacca ggatccaatt gtggttgtga
      961 actgtctgag gtctctagag gaaattttaa agcaggaagg aggtgttgtc attaataagc
     1021 ccattgccca ccatctctta aatagaatgt caaaactgga ccagtggggc caggctgaag
     1081 tactgaactt tctgctccgc taccaacccc gcagtgagga ggaactgttt gatattctca
     1141 atttgttgga cagctatctc aagagcagca gtactggcgt ggtgatggga gccaccaaac
     1201 tctttctgat tttggcaaaa aagttccccc acgtgcagac tgatgtgctt gtgcgagtca
     1261 aggggccctt gctggccgcc tgctcttcag agagccgtga gctctgtttt gctgctctct
     1321 gccatgtccg ccaggtcttg cacagtttgc caggtcactt tagcagtcac tacaaaaagt
     1381 ttttttgctc ttactcggaa ccccactaca tcaagctcca gaaggtggag gtgctgtgcg
     1441 agctggtgaa tgacgagaac gtgcagcagg tgctggaaga gctgcgtggc tactgcactg
     1501 acgtggctgc tgactttgca caggctgcca tcttcgccat aggtagcatt gccaagactt
     1561 acacagatca atgtgtgcag attctaacag agttgctggg acttcgacaa gaacatatca
     1621 ctactgtggt cgtgcagact ttccgagacc tggtctggtt atgccctcag tgtactgaag
     1681 ctgtgtgtca ggctctgccc ggctgtgagg agaacattca agacagtgag gggaaacagg
     1741 cacttatttg gttacttggg gtccacgggg aaaaaatccc caatgctcct tatgtgttgg
     1801 aggactttgt agacaacgtg aagtcagaga catttcccgc tgttaagatg gagctactga
     1861 ccgcactgat gcgccttgtc ctctcgcgcc cggctgagtg ccaggacatg ctgggacggc
     1921 tgctgcatta ctgcatagag gaagaaaagg atatggctgt acgggaccgg ggtctcttct
     1981 attaccgcct cctgttagtt ggcattgata aagttaagca gatcctgtgt agtcctaagt
     2041 ctgacccttc tcttggactt ttggaggatc agccggaacg accagtaaat agctgggctt
     2101 cagacttcaa cacactggcg ccagtgtatg gcagagccca ctgggcaact atctctaaat
     2161 gccagcaggt agagcggcat cgccttgagc ttccccacaa tgcatccttt gccacatcag
     2221 ggcacttgat ttccgaggag aacaaagaag gtgcacaaga acctgattct gacactctca
     2281 tgctggtccc caatctccag cttactgctg agtattttga gaagacgtgg cttagcctca
     2341 gagttagtta ccagcaggtg tttccttggc agggagaagt ccagcctgac actctacaaa
     2401 tggctctaaa agtagtgaac attcagacca tcgcaatgag cagagctggg gcacagccct
     2461 ggaaagccta cctcagtgct caggatgata ctggcggcct tttcttagct gaattgctac
     2521 tgaagcctga gaactcagag atgcaaatct ctgtgaagca aagtaaggca aggactgaat
     2581 ccctgcatgg ttttgtttct gtcctggaaa ctgtgattgg aacagttgga gacataaaat
     2641 cttaacagag ttccttcatt gtcttaaaaa gctgcttgta agtccacata ttaacttcaa
     2701 aagagagtgg gaggtctggg aacccagctc ttatgtttac ccaaagttta cgttgttctt
     2761 ttcaagcctg tcaggaattg atcccatttt aaaaggagaa tgtatactgt catattagta
     2821 gataagaatg gggtgaagat aggctgggga cacttctctg atcattttag cggttgtaat
     2881 atttattaaa tatacctggc atttgtggaa aaaa
//
