LOCUS       NM_004068               1931 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens adaptor related protein complex 2 subunit mu 1
            (AP2M1), transcript variant 1, mRNA.
ACCESSION   NM_004068
VERSION     NM_004068.4
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 1931)
  AUTHORS   Lee,H.J., Fenollar-Ferrer,C., Isgrig,K., Wang,Y.X., Valente,K.,
            Eide,J., Honda,K., Chien,W.W., Petralia,R.S., Dong,L.,
            Friedman,T.B., Bonifacino,J.S., Griffith,A.J. and Roux,I.
  TITLE     SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane
            abundance in the endolymphatic sac
  JOURNAL   Sci Adv 10 (41), eadm8663 (2024)
   PUBMED   39383236
  REMARK    GeneRIF: SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma
            membrane abundance in the endolymphatic sac.
REFERENCE   2  (bases 1 to 1931)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1931)
  AUTHORS   Kliche,J., Garvanska,D.H., Simonetti,L., Badgujar,D.,
            Dobritzsch,D., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Large-scale phosphomimetic screening identifies phospho-modulated
            motif-based protein interactions
  JOURNAL   Mol Syst Biol 19 (7), e11164 (2023)
   PUBMED   37219487
REFERENCE   4  (bases 1 to 1931)
  AUTHORS   Mihalic,F., Simonetti,L., Giudice,G., Sander,M.R., Lindqvist,R.,
            Peters,M.B.A., Benz,C., Kassa,E., Badgujar,D., Inturi,R., Ali,M.,
            Krystkowiak,I., Sayadi,A., Andersson,E., Aronsson,H., Soderberg,O.,
            Dobritzsch,D., Petsalaki,E., Overby,A.K., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Large-scale phage-based screening reveals extensive pan-viral
            mimicry of host short linear motifs
  JOURNAL   Nat Commun 14 (1), 2409 (2023)
   PUBMED   37100772
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1931)
  AUTHORS   Liu,X., Zhao,X., Yang,J., Wang,H., Piao,Y. and Wang,L.
  TITLE     High expression of AP2M1 correlates with worse prognosis by
            regulating immune microenvironment and drug resistance to R-CHOP in
            diffuse large B cell lymphoma
  JOURNAL   Eur J Haematol 110 (2), 198-208 (2023)
   PUBMED   36335584
  REMARK    GeneRIF: High expression of AP2M1 correlates with worse prognosis
            by regulating immune microenvironment and drug resistance to R-CHOP
            in diffuse large B cell lymphoma.
REFERENCE   6  (bases 1 to 1931)
  AUTHORS   Ohno,H., Stewart,J., Fournier,M.C., Bosshart,H., Rhee,I.,
            Miyatake,S., Saito,T., Gallusser,A., Kirchhausen,T. and
            Bonifacino,J.S.
  TITLE     Interaction of tyrosine-based sorting signals with
            clathrin-associated proteins
  JOURNAL   Science 269 (5232), 1872-1875 (1995)
   PUBMED   7569928
REFERENCE   7  (bases 1 to 1931)
  AUTHORS   Liu,Q., Feng,Y. and Forgac,M.
  TITLE     Activity and in vitro reassembly of the coated vesicle (H+)-ATPase
            requires the 50-kDa subunit of the clathrin assembly complex AP-2
  JOURNAL   J Biol Chem 269 (50), 31592-31597 (1994)
   PUBMED   7989329
REFERENCE   8  (bases 1 to 1931)
  AUTHORS   Pauloin,A. and Thurieau,C.
  TITLE     The 50 kDa protein subunit of assembly polypeptide (AP) AP-2
            adaptor from clathrin-coated vesicles is phosphorylated on
            threonine-156 by AP-1 and a soluble AP50 kinase which co-purifies
            with the assembly polypeptides
  JOURNAL   Biochem J 296 (Pt 2) (Pt 2), 409-415 (1993)
   PUBMED   8257432
REFERENCE   9  (bases 1 to 1931)
  AUTHORS   Chang,M.P., Mallet,W.G., Mostov,K.E. and Brodsky,F.M.
  TITLE     Adaptor self-aggregation, adaptor-receptor recognition and binding
            of alpha-adaptin subunits to the plasma membrane contribute to
            recruitment of adaptor (AP2) components of clathrin-coated pits
  JOURNAL   EMBO J 12 (5), 2169-2180 (1993)
   PUBMED   8491205
REFERENCE   10 (bases 1 to 1931)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI461415.1 and BC004996.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004068.3.
            
            Summary: This gene encodes a subunit of the heterotetrameric coat
            assembly protein complex 2 (AP2), which belongs to the adaptor
            complexes medium subunits family. The encoded protein is required
            for the activity of a vacuolar ATPase, which is responsible for
            proton pumping occurring in the acidification of endosomes and
            lysosomes. The encoded protein may also play an important role in
            regulating the intracellular trafficking and function of CTLA-4
            protein. Three transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) lacks two alternate in-frame
            exons compared to variant 3. The resulting isoform (a) has the same
            N- and C-termini but is shorter compared to isoform c.
            
            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 :: SRR1803615.179990.1,
                                           SRR3476690.1004436.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292807.9/ ENSP00000292807.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-480               BI461415.1         38-517
            481-1931            BC004996.1         468-1918
FEATURES             Location/Qualifiers
     source          1..1931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..1931
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /note="adaptor related protein complex 2 subunit mu 1"
                     /db_xref="GeneID:1173"
                     /db_xref="HGNC:HGNC:564"
                     /db_xref="MIM:601024"
     exon            1..105
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            106..222
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1456
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /note="isoform a is encoded by transcript variant 1;
                     clathrin-associated/assembly/adaptor protein, medium 1;
                     plasma membrane adaptor AP-2 50kDA protein; clathrin coat
                     adaptor protein AP50; clathrin adaptor complex AP2, mu
                     subunit; HA2 50 kDA subunit; clathrin assembly protein
                     complex 2 medium chain; AP-2 mu 2 chain; AP-2 complex
                     subunit mu; adaptin-mu2; clathrin coat assembly protein
                     AP50; clathrin coat-associated protein AP50; adaptor
                     protein complex AP-2 subunit mu; plasma membrane adaptor
                     AP-2 50 kDa protein; clathrin assembly protein complex 2
                     mu medium chain; adaptor-related protein complex 2 subunit
                     mu; adaptor related protein complex 2 mu 1 subunit"
                     /codon_start=1
                     /product="AP-2 complex subunit mu isoform a"
                     /protein_id="NP_004059.2"
                     /db_xref="CCDS:CCDS43177.1"
                     /db_xref="GeneID:1173"
                     /db_xref="HGNC:HGNC:564"
                     /db_xref="MIM:601024"
                     /translation="MIGGLFIYNHKGEVLISRVYRDDIGRNAVDAFRVNVIHARQQVR
                     SPVTNIARTSFFHVKRSNIWLAAVTKQNVNAAMVFEFLYKMCDVMAAYFGKISEENIK
                     NNFVLIYELLDEILDFGYPQNSETGALKTFITQQGIKSQHQTKEEQSQITSQVTGQIG
                     WRREGIKYRRNELFLDVLESVNLLMSPQGQVLSAHVSGRVVMKSYLSGMPECKFGMND
                     KIVIEKQGKGTADETSKSGKQSIAIDDCTFHQCVRLSKFDSERSISFIPPDGEFELMR
                     YRTTKDIILPFRVIPLVREVGRTKLEVKVVIKSNFKPSLLAQKIEVRIPTPLNTSGVQ
                     VICMKGKAKYKASENAIVWKIKRMAGMKESQISAEIELLPTNDKKKWARPPISMNFEV
                     PFAPSGLKVRYLKVFEPKLNYSDHDVIKWVRYIGRSGIYETRC"
     exon            223..488
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            489..571
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            572..577
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            578..713
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            714..855
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            856..975
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1111
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1209
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1321
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1931
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1912..1917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="AP2M1"
                     /gene_synonym="AP50; CLAPM1; MRD60; mu2"
                     /note="major polyA site"
ORIGIN      
        1 actgcggtga aagccgaggc agcgggcaga cgagcagggg gcgggcggac atcttgggat
       61 ccggagagtg gccgggccgg cagagcaggg ggccgaggac accaggtctg ttctcagagc
      121 gatgggccgc ggagactgat ctgccgccat gattggaggc ttattcatct ataatcacaa
      181 gggggaggtg ctcatctccc gagtctaccg agatgacatc gggaggaacg cagtggatgc
      241 ctttcgggtc aatgttatcc atgcccggca gcaggtgcgc agccccgtca ccaacattgc
      301 tcgcaccagc ttcttccacg ttaagcggtc caacatttgg ctggcagcag tcaccaagca
      361 gaatgtcaac gctgccatgg tcttcgaatt cctctataag atgtgtgacg tgatggctgc
      421 ctactttggc aagatcagcg aggaaaacat caagaacaat tttgtgctca tatatgagct
      481 gctggatgag attctagact ttggctaccc acagaattcc gagacaggcg cgctgaaaac
      541 cttcatcacg cagcagggca tcaagagtca gcatcagaca aaagaagagc agtcacagat
      601 caccagccag gtaactgggc agattggctg gcggcgagag ggtatcaagt atcgtcggaa
      661 tgagctcttc ctggatgtgc tggagagtgt gaacctgctc atgtccccac aagggcaggt
      721 gctgagtgcc catgtgtcgg gccgggtggt gatgaagagc tacctgagtg gcatgcctga
      781 atgcaagttt gggatgaatg acaagattgt tattgaaaag cagggcaaag gcacagctga
      841 tgaaacaagc aagagcggga agcaatcaat tgccattgat gactgcacct tccaccagtg
      901 tgtgcgactc agcaagtttg actctgaacg cagcatcagc tttatcccgc cagatggaga
      961 gtttgagctt atgaggtatc gcacaaccaa ggacatcatc cttcccttcc gggtgatccc
     1021 gctagtgcga gaagtgggac gcaccaaact ggaggtcaag gtggtcatca agtccaactt
     1081 taaaccctca ctgctggctc agaagatcga ggtgaggatc ccaaccccac tgaacacaag
     1141 cggggtgcag gtgatctgca tgaaggggaa ggccaagtac aaggccagcg agaatgccat
     1201 cgtgtggaag atcaagcgca tggcaggcat gaaggaatcg cagatcagcg cagagattga
     1261 gcttctgcct accaacgaca agaagaaatg ggctcgaccc cccatttcca tgaactttga
     1321 ggtgccattc gcgccctctg gcctcaaggt gcgctacttg aaggtgtttg aaccgaagct
     1381 gaactacagc gaccatgatg tcatcaaatg ggtgcgctac attggccgca gtggcattta
     1441 tgaaactcgc tgctagctgc cactaggcag ctagcccacc tccccagcca ccctcctcca
     1501 caggtccagg tgccgctccc tcccccacca cacatcagtg tctcctccct cctgctttgc
     1561 tgccttccct ttgcaccagc ccgagtctag gtctgggcca agcacattac aagtgggacc
     1621 ggtggagcag cccctgggct ccctgggcag gggagttctg aggctcctgc tctcccatcc
     1681 acctgtctgt cctggcctaa tgccaggctc tgagttctgt gaccaaagcc aggtgggttc
     1741 cctttccttc ccacccctgt ggccacagct ctggagtggg agggttggtt gcccctcacc
     1801 tcagagctcc cccaaaggcc agtaatggat ccccggcctc agtccctact ctgctttggg
     1861 atagtgtgag cttcattttg tacacgtgtg acttcgtcca gttacaaacc caataaactc
     1921 tgtagagtgg a
//
