LOCUS       NM_004722               3591 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens adaptor related protein complex 4 subunit mu 1
            (AP4M1), transcript variant 1, mRNA.
ACCESSION   NM_004722
VERSION     NM_004722.4
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 3591)
  AUTHORS   Akbar,W., Ullah,A., Haider,N., Suleman,S., Khan,F.U., Shah,A.A.,
            Sikandar,M.A., Basit,S. and Ahmad,W.
  TITLE     Identification of novel homozygous variants in FOXE3 and AP4M1
            underlying congenital syndromic anophthalmia and microphthalmia
  JOURNAL   J Gene Med 26 (1), e3601 (2024)
   PUBMED   37758467
  REMARK    GeneRIF: Identification of novel homozygous variants in FOXE3 and
            AP4M1 underlying congenital syndromic anophthalmia and
            microphthalmia.
REFERENCE   2  (bases 1 to 3591)
  AUTHORS   Becker,A., Felici,C., Lambert,L., de Saint Martin,A.,
            Abi-Warde,M.T., Schaefer,E., Zix,C., Zamani,M., Sadeghian,S.,
            Zeighami,J., Seifi,T., Azizimalamiri,R., Shariati,G., Galehdari,H.,
            Selig,M., Ding,C., Duerinckx,S., Pirson,I., Abramowicz,M.,
            Clement,G., Leheup,B., Jonveaux,P., Lefort,G., Bronner,M.,
            Renaud,M. and Bonnet,C.
  TITLE     Putative founder effect of Arg338* AP4M1 (SPG50) variant causing
            severe intellectual disability, epilepsy and spastic paraplegia:
            Report of three families
  JOURNAL   Clin Genet 103 (3), 346-351 (2023)
   PUBMED   36371792
  REMARK    GeneRIF: Putative founder effect of Arg338* AP4M1 (SPG50) variant
            causing severe intellectual disability, epilepsy and spastic
            paraplegia: Report of three families.
REFERENCE   3  (bases 1 to 3591)
  AUTHORS   Bellad,A., Girimaji,S.C. and Muthusamy,B.
  TITLE     A novel loss of function mutation in adaptor protein complex 4,
            subunit mu-1 causing autosomal recessive spastic paraplegia 50
  JOURNAL   Neurol Sci 42 (12), 5311-5319 (2021)
   PUBMED   33884525
  REMARK    GeneRIF: A novel loss of function mutation in adaptor protein
            complex 4, subunit mu-1 causing autosomal recessive spastic
            paraplegia 50.
REFERENCE   4  (bases 1 to 3591)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3591)
  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   6  (bases 1 to 3591)
  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   7  (bases 1 to 3591)
  AUTHORS   Stephens,D.J. and Banting,G.
  TITLE     Specificity of interaction between adaptor-complex medium chains
            and the tyrosine-based sorting motifs of TGN38 and lgp120
  JOURNAL   Biochem J 335 (Pt 3) (Pt 3), 567-572 (1998)
   PUBMED   9794796
REFERENCE   8  (bases 1 to 3591)
  AUTHORS   Wang,X. and Kilimann,M.W.
  TITLE     Identification of two new mu-adaptin-related proteins, mu-ARP1 and
            mu-ARP2
  JOURNAL   FEBS Lett 402 (1), 57-61 (1997)
   PUBMED   9013859
REFERENCE   9  (bases 1 to 3591)
  AUTHORS   Alecu,J., Schierbaum,L. and Ebrahimi-Fakhari,D.
  TITLE     AP-4-Associated Hereditary Spastic Paraplegia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30543385
REFERENCE   10 (bases 1 to 3591)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC413622.1, AF020796.1,
            BC012023.1, Y08387.1 and AC073842.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004722.3.
            
            Summary: This gene encodes a subunit of the heterotetrameric AP-4
            complex. The encoded protein belongs to the adaptor complexes
            medium subunits family. This AP-4 complex is involved in the
            recognition and sorting of cargo proteins with tyrosine-based
            motifs from the trans-golgi network to the endosomal-lysosomal
            system. [provided by RefSeq, Jul 2008].
            
            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 :: SRR7346977.1592632.1, Y08387.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359593.9/ ENSP00000352603.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-130               DC413622.1         137-266
            131-1105            AF020796.1         218-1192
            1106-1728           BC012023.1         1067-1689
            1729-1732           Y08387.1           1711-1714
            1733-3591           AC073842.5         95655-97513         c
FEATURES             Location/Qualifiers
     source          1..3591
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3591
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /note="adaptor related protein complex 4 subunit mu 1"
                     /db_xref="GeneID:9179"
                     /db_xref="HGNC:HGNC:574"
                     /db_xref="MIM:602296"
     exon            1..130
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1434
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mu-adaptin-related protein-2; adaptor-related protein
                     complex AP-4 mu4 subunit; mu subunit of AP-4; AP-4 complex
                     subunit mu-1; mu4-adaptin; 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 mu 1 subunit"
                     /codon_start=1
                     /product="AP-4 complex subunit mu-1 isoform 1"
                     /protein_id="NP_004713.2"
                     /db_xref="CCDS:CCDS5685.1"
                     /db_xref="GeneID:9179"
                     /db_xref="HGNC:HGNC:574"
                     /db_xref="MIM:602296"
                     /translation="MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDE
                     SPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTI
                     SRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQ
                     QSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKS
                     FLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQ
                     GELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHL
                     PLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHG
                     LSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYV
                     IRI"
     exon            131..219
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            220..326
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            327..423
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            424..534
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            535..615
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            616..678
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            679..745
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            746..799
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            800..906
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1001
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1046
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1097
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1209
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..3591
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1677..1682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /note="hexamer: AAGAAA"
     polyA_site      1696
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /note="major polyA site"
     regulatory      2517..2522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
                     /note="hexamer: AATAAA"
     polyA_site      2541
                     /gene="AP4M1"
                     /gene_synonym="CPSQ3; MU-4; MU-ARP2; SPG50"
ORIGIN      
        1 cttttgttcc ggggccgcag ggcggggcag gcccgacttt cgccgtcttc ttgtctactc
       61 tccagaacgg ccatgatttc ccaattcttc attctgtcct ccaaggggga cccgctcatc
      121 tacaaagact tccgcgggga cagtggcggc cgggatgtgg ccgagctctt ctaccggaag
      181 ctgacgggac tgccaggaga cgagtccccg gttgtcatgc atcaccatgg ccgtcatttc
      241 attcacatca gacacagcgg cctctatttg gtggtcacaa cttcagaaaa cgtttctccc
      301 ttcagcctcc tagaactgct ctccaggttg gccacccttc tgggcgatta ctgtggctcc
      361 ctgggcgagg ggaccatctc ccgcaatgtg gctctggtat acgaactcct ggatgaagtg
      421 ctggactatg gctatgtaca gaccacatcc acggagatgc tgaggaattt catccagacg
      481 gaagctgtgg tcagcaagcc cttcagcctc tttgacctca gcagcgttgg cttgtttggg
      541 gctgagacac aacagagcaa agtggccccc agcagtgcag ccagccgccc cgtcctgtcc
      601 agtcgctctg accagagcca aaagaatgaa gtttttttgg atgtggtcga gagattgtct
      661 gtactgatag catctaatgg atccctgctg aaggtggatg tgcagggaga gattcggctc
      721 aagagcttcc ttcctagcgg ctctgagatg cgcattggct tgacggaaga gttttgtgtg
      781 gggaagtcag agctgagagg ttatgggcca ggaatccggg tcgatgaagt ctcgtttcac
      841 agctctgtga atctggacga atttgagtct catcgaatcc tccgcttgca accacctcag
      901 ggcgagctga ctgtgatgcg gtaccaactc tccgatgacc tcccctcacc gctccccttc
      961 cggctcttcc cctctgtgca gtgggaccga ggctcaggcc ggctccaggt ttatctaaag
     1021 ttgcgatgtg acctgctctc aaagagccaa gccctcaatg tcaggctgca cctccccctg
     1081 cctcgagggg tggtcagcct gtctcaggag ctgagcagcc cagagcagaa ggctgagctg
     1141 gcagagggag cccttcgctg ggacctgcct cgggtgcaag gaggctctca actctcaggc
     1201 cttttccaga tggacgtccc agggccccca ggacctccca gccatgggct ctccacctcg
     1261 gcctctcctc tggggctggg ccctgccagt ctctccttcg agcttccccg gcacacgtgc
     1321 tctggcctcc aggtccgatt cctcaggctg gccttcaggc catgcggcaa tgccaacccc
     1381 cacaagtggg tgcgacacct aagccacagc gacgcctatg tcattcggat ctgaggctcc
     1441 ccaaacgagg acacgacggc caaggtggca gtttgtccca cgggaggaca gtcgtttctt
     1501 ttccagcctc ctggccttcg gactctgaat ctgggcagga agagtcctca gtcccaagac
     1561 caggaggggg caatgggccc agcctttctg tggtatctga tgcaggaagg actgcagtgg
     1621 atcagaactt acaaaccaaa cttttattct gagaaactgg ctgtacaata tctaaaaaga
     1681 aagtgacatg aaggaagcaa tctacaactt ccttccgctt agcgagcatg catgtgtgta
     1741 cgtgcacgtg tgtacatgtc tgcatgtgtg ggaatccggg ggctggcagg tggagcatca
     1801 cggagcaggc tgaggggagc cggagttggg ctgggagcca ttggcttttg gagtccctgg
     1861 agctggaggg ggactgtccc cagcctcctg cttcccccca caaagggcac tgccgctgag
     1921 tggggacggg gacgatgccg ggggaggaac tggagaagga tgggaggtgg ggcctccttt
     1981 gccctcccct gttgggggaa gtgagaccac gatgtacttc tggacactcc caggaccaga
     2041 gggagcagtg ctggggggtg cggtggtggc ggtggagacc aacttgacga tgggctgcac
     2101 gctggggacg gtggtggtga cgggcgaagt ggtggtggaa cctgagccgg gggccgaggt
     2161 gctgagggac aggacctgga tagaaaggaa aggcaggccg cttgccctgt gccctccctg
     2221 ccccccagag gcctggcgag gacgcttcac tcgctccctg cctgaacaag ttgttcctgt
     2281 agttcaccct gtagacagct atggctggag accttgttca tgcagggcag ctacagccct
     2341 gcaggaccct ggtgggcgcc tcttccagct cttgacttgg ggcccagagg ggactgtgct
     2401 ctactcctgg gcctccccag ggtgctctga ggtaacccag gccctccaga tgctccctgt
     2461 cccacagctc tgcatacctg ctgggtggat ggggcgctgg aggacgatga cattacaata
     2521 aacttggttg gaggagggga aggctgtggt ggggcagccg ctcgtgcaga caccagtgtc
     2581 tggacaggaa gtgcgatgga gccaggaacc ttcagcaagc caggggtgcg agggccaggc
     2641 tgtggggcct gcgagagggt cagcgtgggc cggggctgcg gggagaagag gaaaggggga
     2701 agtggcacca tctactaaga agaggagtct gaagggagag gcctgggctc ccctcgctct
     2761 tcctcagtgg ctctcactag ggctggggca tcctcactca gggcctggtt gccctgagac
     2821 tactgactga gggcacatgt ggctgtgtgc aagtgcctgt cccacacagg ggttctcctc
     2881 tgcttcctcc tattcctcct ccccacccgg ccacggacct gcgtgatggt cagagtggtc
     2941 ctgttgacct gctgagcctg cagagcagcc tgggcccgag ccttgaccac ctgggagcag
     3001 aggaggggcc caagggaccc gaattctgcc cgataggcgt cctgattgtc aggcggtggg
     3061 cgcagctttg ccagaacagg agcacagtgt ttctgcagaa cagaaaaaaa gccaggtaga
     3121 gggagggctg gggaaaaaag ccaggtagag ggagggctgg tgacactctt gagaagaacc
     3181 ttggggatgg ggtaaaaaag gacattcctt atcatctcag tgcccctgtt gaaggccaaa
     3241 ttatgctgaa ctattagtgt gtgtacagaa cactgtgggc tttctcataa gaaaagatgg
     3301 gcacggggcc aggtgcagca tcttaggcct gtatcccagc acttgggagg ctgaggtggg
     3361 tggatcactt gaggtcaaga gcctggccaa aatggagaaa cctcatctcc actaaaaata
     3421 caaaaactag ccaggcatgg tggcacgcac ctgtagtccc agctactggg gaggttgagg
     3481 tactagaatg cttgaaccca ggtggtggag gctgcagtga gcagaggttg catcagtgca
     3541 ctcccgcttg ggtgacagag tgagactgtc tcagaaaaaa aaaaaaaaga a
//
