LOCUS       NP_067367                449 aa            linear   ROD 10-FEB-2025
DEFINITION  AP-4 complex subunit mu-1 [Mus musculus].
ACCESSION   NP_067367
VERSION     NP_067367.3
DBSOURCE    REFSEQ: accession NM_021392.4
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  (residues 1 to 449)
  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  (residues 1 to 449)
  AUTHORS   Chen,X., Dong,T., Hu,Y., De Pace,R., Mattera,R., Eberhardt,K.,
            Ziegler,M., Pirovolakis,T., Sahin,M., Bonifacino,J.S.,
            Ebrahimi-Fakhari,D. and Gray,S.J.
  TITLE     Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic
            paraplegia 50 shows safety and efficacy in preclinical studies
  JOURNAL   J Clin Invest 133 (10), e164575 (2023)
   PUBMED   36951961
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 449)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 449)
  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   5  (residues 1 to 449)
  AUTHORS   Steinmetz,C.C., Tatavarty,V., Sugino,K., Shima,Y., Joseph,A.,
            Lin,H., Rutlin,M., Lambo,M., Hempel,C.M., Okaty,B.W., Paradis,S.,
            Nelson,S.B. and Turrigiano,G.G.
  TITLE     Upregulation of mu3A Drives Homeostatic Plasticity by Rerouting
            AMPAR into the Recycling Endosomal Pathway
  JOURNAL   Cell Rep 16 (10), 2711-2722 (2016)
   PUBMED   27568566
REFERENCE   6  (residues 1 to 449)
  AUTHORS   Verkerk,A.J., Schot,R., Dumee,B., Schellekens,K., Swagemakers,S.,
            Bertoli-Avella,A.M., Lequin,M.H., Dudink,J., Govaert,P., van
            Zwol,A.L., Hirst,J., Wessels,M.W., Catsman-Berrevoets,C.,
            Verheijen,F.W., de Graaff,E., de Coo,I.F., Kros,J.M., Willemsen,R.,
            Willems,P.J., van der Spek,P.J. and Mancini,G.M.
  TITLE     Mutation in the AP4M1 gene provides a model for neuroaxonal injury
            in cerebral palsy
  JOURNAL   Am J Hum Genet 85 (1), 40-52 (2009)
   PUBMED   19559397
REFERENCE   7  (residues 1 to 449)
  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   8  (residues 1 to 449)
  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  (residues 1 to 449)
  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 (residues 1 to 449)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ159660.1, AF242858.1 and BE627979.1.
            
            On Dec 20, 2007 this sequence version replaced NP_067367.2.
            
            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 :: BC011174.1, AK031638.1 [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##
FEATURES             Location/Qualifiers
     source          1..449
                     /organism="Mus musculus"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 76.98 cM"
     Protein         1..449
                     /product="AP-4 complex subunit mu-1"
                     /note="adaptor-related protein complex AP-4 mu4 subunit;
                     mu-ARP2; mu4-adaptin; mu subunit of AP-4;
                     mu-adaptin-related protein 2; AP-4 adapter complex mu
                     subunit; adapter-related protein complex 4 mu-1 subunit;
                     adapter-related protein complex 4 subunit mu-1; AP-4
                     adaptor complex mu subunit; adaptor-related protein
                     complex 4 subunit mu-1"
                     /calculated_mol_wt=49378
     Region          3..141
                     /region_name="AP4_Mu_N"
                     /note="AP-4 complex subunit mu N-terminal domain; cd14838"
                     /db_xref="CDD:341442"
     Site            order(18,21,45..46,55,57,59,71..73,75..77,80,84,110..111,
                     114..115,117..119,121..124,133,135..136)
                     /site_type="other"
                     /note="putative AP-4 beta interface [polypeptide binding]"
                     /db_xref="CDD:341442"
     Region          175..449
                     /region_name="AP-4_Mu4_Cterm"
                     /note="C-terminal domain of medium Mu4 subunit in adaptor
                     protein (AP) complex AP-4; cd09253"
                     /db_xref="CDD:271161"
     Site            order(188..190,217,328,406,408,417,434..437,439)
                     /site_type="other"
                     /note="putative signal peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:271161"
     Site            order(254..257,259,261,264..265,280,283)
                     /site_type="other"
                     /note="signal peptide binding site [polypeptide binding]"
                     /db_xref="CDD:271161"
     CDS             1..449
                     /gene="Ap4m1"
                     /gene_synonym="4930443L05Rik; Ap4m4"
                     /coded_by="NM_021392.4:171..1520"
                     /db_xref="CCDS:CCDS19794.1"
                     /db_xref="GeneID:11781"
                     /db_xref="MGI:MGI:1337063"
ORIGIN      
        1 misqffilss kgdpliykdf rgdsggrdva elfyrkltgl pggespvvmy hgdrhfihir
       61 hsglylvatt lenvspfsll ellsrlatll gdycgslneg tisrnvalvy elldevldyg
      121 yvqttsteml rnfiqteavv skpfslfdls svglfgaetq qnkvapssaa srpvlssrsd
      181 qsqknevfld vverlsvlia sngsllkvdv qgeirlksfl psgseicigl teefcvgkse
      241 lrgygpgirv devsfhssvn ldefeshril rlqppqgelt vmryqlsddl psplpfrlfp
      301 svqwdqgsgr lqvylklrcd lppksqalni hlhlplprgv islsqelssp dqkaelgega
      361 lhwdlprvqg gsqlsglfqm dvpglqglpn hgpsplglgp aslsfelprh tcsglqvrfl
      421 rlsfsacgna nphkwvrhls hsnayviri
//
