LOCUS       NM_021710               1122 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus adaptor-related protein complex AP-4, sigma 1 (Ap4s1),
            transcript variant 2, mRNA.
ACCESSION   NM_021710
VERSION     NM_021710.4
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 1122)
  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 1122)
  AUTHORS   Hall,E.A., Nahorski,M.S., Murray,L.M., Shaheen,R., Perkins,E.,
            Dissanayake,K.N., Kristaryanto,Y., Jones,R.A., Vogt,J.,
            Rivagorda,M., Handley,M.T., Mali,G.R., Quidwai,T., Soares,D.C.,
            Keighren,M.A., McKie,L., Mort,R.L., Gammoh,N., Garcia-Munoz,A.,
            Davey,T., Vermeren,M., Walsh,D., Budd,P., Aligianis,I.A.,
            Faqeih,E., Quigley,A.J., Jackson,I.J., Kulathu,Y., Jackson,M.,
            Ribchester,R.R., von Kriegsheim,A., Alkuraya,F.S., Woods,C.G.,
            Maher,E.R. and Mill,P.
  TITLE     PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by
            Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic
            Proteins
  JOURNAL   Am J Hum Genet 100 (5), 706-724 (2017)
   PUBMED   28413018
REFERENCE   3  (bases 1 to 1122)
  AUTHORS   Hardies,K., May,P., Djemie,T., Tarta-Arsene,O., Deconinck,T.,
            Craiu,D., Helbig,I., Suls,A., Balling,R., Weckhuysen,S., De
            Jonghe,P. and Hirst,J.
  CONSRTM   AR working group of the EuroEPINOMICS RES Consortium
  TITLE     Recessive loss-of-function mutations in AP4S1 cause mild
            fever-sensitive seizures, developmental delay and spastic
            paraplegia through loss of AP-4 complex assembly
  JOURNAL   Hum Mol Genet 24 (8), 2218-2227 (2015)
   PUBMED   25552650
REFERENCE   4  (bases 1 to 1122)
  AUTHORS   Park,S.Y. and Guo,X.
  TITLE     Adaptor protein complexes and intracellular transport
  JOURNAL   Biosci Rep 34 (4), e00123 (2014)
   PUBMED   24975939
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1122)
  AUTHORS   Wang,H., Xu,Y., Chen,M., Shang,Q., Sun,Y., Zhu,D., Wang,L.,
            Huang,Z., Ma,C., Li,T., He,L., Xing,Q. and Zhu,C.
  TITLE     Genetic association study of adaptor protein complex 4 with
            cerebral palsy in a Han Chinese population
  JOURNAL   Mol Biol Rep 40 (11), 6459-6467 (2013)
   PUBMED   24065543
REFERENCE   6  (bases 1 to 1122)
  AUTHORS   Fink,J.K.
  TITLE     Hereditary spastic paraplegia: clinico-pathologic features and
            emerging molecular mechanisms
  JOURNAL   Acta Neuropathol 126 (3), 307-328 (2013)
   PUBMED   23897027
  REMARK    Review article
REFERENCE   7  (bases 1 to 1122)
  AUTHORS   Piao,Y., Ko,N.T., Lim,M.K. and Ko,M.S.
  TITLE     Construction of long-transcript enriched cDNA libraries from
            submicrogram amounts of total RNAs by a universal PCR amplification
            method
  JOURNAL   Genome Res 11 (9), 1553-1558 (2001)
   PUBMED   11544199
REFERENCE   8  (bases 1 to 1122)
  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   9  (bases 1 to 1122)
  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
REFERENCE   10 (bases 1 to 1122)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD551689.1, AK005283.1 and
            AI847561.1.
            
            On Jul 27, 2016 this sequence version replaced NM_021710.3.
            
            Summary: This gene encodes the sigma subunit of the adaptor-related
            protein complex 4 which mediates intracellular membrane trafficking
            along the endocytic and secretory transport pathways. This complex
            contains four subunits, beta, epsilon, mu, and sigma, and belongs
            to a family of five adapter protein complexes, including three
            clathrin-associated complexes and two non clathrin-associated
            complexes, that localize to different intracellular compartments
            and mediate membrane vesicle trafficking using distinct pathways.
            In humans, loss-of-function mutations in this gene have been linked
            to specific adapter complex 4 deficiency disorders including
            hereditary spastic paraplegia. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) uses two alternate splice
            sites in the 3' coding region, compared to variant 1, resulting in
            a novel 3' coding region and longer 3' UTR. It encodes isoform 2
            which has a distinct C-terminus, compared to 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 :: AF092093.1, BC053339.1 [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
            1-252               CD551689.1         114-365             c
            253-1105            AK005283.1         3-855
            1106-1122           AI847561.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..1122
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 22.11 cM"
     gene            1..1122
                     /gene="Ap4s1"
                     /note="adaptor-related protein complex AP-4, sigma 1"
                     /db_xref="GeneID:11782"
                     /db_xref="MGI:MGI:1337065"
     exon            1..349
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     exon            350..558
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     CDS             421..855
                     /gene="Ap4s1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     sigma4-adaptin; AP-4 adapter complex subunit sigma-1;
                     adapter-related protein complex 4 subunit sigma-1"
                     /codon_start=1
                     /product="AP-4 complex subunit sigma-1 isoform 2"
                     /protein_id="NP_068356.1"
                     /db_xref="CCDS:CCDS36441.1"
                     /db_xref="GeneID:11782"
                     /db_xref="MGI:MGI:1337065"
                     /translation="MIKFFLMVNKQGQTRLSKYYEHVDINKRALLETEVSKSCLSRSS
                     EQCSFIEYKDFKLIYRQYAALFVVVGVNDTENEMAIYEFIHNFVEVLDGYFSRVSELD
                     IMFNLDKVHIILDEMVLNGCIVETNRARILAPLLILDKLSES"
     exon            559..645
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     exon            646..714
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     exon            715..726
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     exon            727..1107
                     /gene="Ap4s1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ap4s1"
                     /note="hexamer: AATAAA"
     polyA_site      1106
                     /gene="Ap4s1"
                     /note="major polyA site"
ORIGIN      
        1 ggctgtcaag gggcaagtgc gtaccgaggc gcgggggagg gggcaggacg ccacatcgga
       61 agggggtgca ggagccagga ggcaaagacg ctcatcccag gccctctccg cgtggcctca
      121 ccctcaaggg gacccacaag cgcaaactca gtgcctagcg ggcccacgcc agactctcgc
      181 ccagaggcgc tgggcccaaa ccccggaggc ccaggagagg tggctccgga ggagccctgc
      241 ggacgccatg ctaaaagcca aaatggctgc cccaaggatg cccgcagcgc gccgcccgtg
      301 aggagggagc cgggcgcgcc gtcaccgctc gccggccgga gcggctcagg ttccagctac
      361 ggtcatccag tgccataact tttaaaggat attgcaaaga aactgggaaa gggtgaaaaa
      421 atgatcaagt ttttccttat ggtgaacaag caagggcaga cccgactgtc taagtactac
      481 gagcatgtgg acattaataa acgtgcgctt ctggagactg aggtcagcaa gagttgcctg
      541 tctcggtcca gcgaacaatg ctcattcatt gaatacaagg attttaaact gatctaccgg
      601 caatatgcag ctctctttgt tgtggttgga gttaatgaca ctgagaatga gatggctatc
      661 tatgaattta tacacaattt tgtggaagtt ttagatgggt acttcagccg agtgagtgaa
      721 ttagatataa tgtttaattt ggataaagtt cacatcattt tggatgagat ggtgttaaat
      781 ggctgcattg tggaaactaa cagagccaga attcttgccc ctctgctgat tcttgacaag
      841 ctgtcggaaa gctgatgaag acgatcaggg tttgagtgct gtgaaggcca aggaagagat
      901 catggatgac agcagccttc tatagttcct atcccatagt tcctaaagag aaaacaattc
      961 ttgtgtacac atttttctct taacagagag ccacaatttt acttggtaac tgtaagcttg
     1021 cttttccttc tataggtact gcagggttgc agtgtgatgc aagcatggca gttgtccatc
     1081 agccaataaa cttcaaattg acttgacaaa aaaaaaaaaa aa
//
