LOCUS       NM_001272071            2128 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens adaptor related protein complex 1 subunit sigma 2
            (AP1S2), transcript variant 1, mRNA.
ACCESSION   NM_001272071
VERSION     NM_001272071.2
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 2128)
  AUTHORS   Noojarern,S., Tim-Aroon,T., Anurat,K., Phetthong,T.,
            Khongkraparn,A. and Wattanasirichaigoon,D.
  TITLE     A novel AP1S2 variant causing leaky splicing in X-linked
            intellectual disability: Further delineation and intrafamilial
            variability
  JOURNAL   Am J Med Genet A 194 (9), e63639 (2024)
   PUBMED   38682877
  REMARK    GeneRIF: A novel AP1S2 variant causing leaky splicing in X-linked
            intellectual disability: Further delineation and intrafamilial
            variability.
REFERENCE   2  (bases 1 to 2128)
  AUTHORS   Gu,Y., Zhang,X., Li,Y., Shi,J., Cui,H., Ren,Y., Liu,S., Qiao,Y.,
            Cheng,Y. and Liu,Y.
  TITLE     MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid
            carcinoma
  JOURNAL   Mol Cell Endocrinol 574, 111993 (2023)
   PUBMED   37328093
  REMARK    GeneRIF: MiR-204-5p-targeted AP1S2 is necessary for papillary
            thyroid carcinoma.
REFERENCE   3  (bases 1 to 2128)
  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   4  (bases 1 to 2128)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2128)
  AUTHORS   Luan,W., Ding,Y., Ma,S., Ruan,H., Wang,J. and Lu,F.
  TITLE     Long noncoding RNA LINC00518 acts as a competing endogenous RNA to
            promote the metastasis of malignant melanoma via miR-204-5p/AP1S2
            axis
  JOURNAL   Cell Death Dis 10 (11), 855 (2019)
   PUBMED   31712557
  REMARK    GeneRIF: Long noncoding RNA LINC00518 acts as a competing
            endogenous RNA to promote the metastasis of malignant melanoma via
            miR-204-5p/AP1S2 axis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2128)
  AUTHORS   Kirchhausen,T.
  TITLE     Clathrin
  JOURNAL   Annu Rev Biochem 69, 699-727 (2000)
   PUBMED   10966473
  REMARK    Review article
REFERENCE   7  (bases 1 to 2128)
  AUTHORS   Carpenter,N.J., Brown,W.T., Qu,Y. and Keenan,K.L.
  TITLE     Regional localization of a nonspecific X-linked mental retardation
            gene (MRX59) to Xp21.2-p22.2
  JOURNAL   Am J Med Genet 85 (3), 266-270 (1999)
   PUBMED   10398241
REFERENCE   8  (bases 1 to 2128)
  AUTHORS   Takatsu,H., Sakurai,M., Shin,H.W., Murakami,K. and Nakayama,K.
  TITLE     Identification and characterization of novel clathrin
            adaptor-related proteins
  JOURNAL   J Biol Chem 273 (38), 24693-24700 (1998)
   PUBMED   9733768
REFERENCE   9  (bases 1 to 2128)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (bases 1 to 2128)
  AUTHORS   Kirchhausen,T., Davis,A.C., Frucht,S., Greco,B.O., Payne,G.S. and
            Tubb,B.
  TITLE     AP17 and AP19, the mammalian small chains of the
            clathrin-associated protein complexes show homology to Yap17p,
            their putative homolog in yeast
  JOURNAL   J Biol Chem 266 (17), 11153-11157 (1991)
   PUBMED   2040623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312594.1 and AC004106.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001272071.1.
            
            Summary: Adaptor protein complex 1 is found at the cytoplasmic face
            of coated vesicles located at the Golgi complex, where it mediates
            both the recruitment of clathrin to the membrane and the
            recognition of sorting signals within the cytosolic tails of
            transmembrane receptors. This complex is a heterotetramer composed
            of two large, one medium, and one small adaptin subunit. The
            protein encoded by this gene serves as the small subunit of this
            complex and is a member of the adaptin protein family. Transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: DT216449.1, BG701831.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000672987.1/
                                                ENSP00000500695.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-609               AK312594.1         1-609
            610-2128            AC004106.1         34537-36055         c
FEATURES             Location/Qualifiers
     source          1..2128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..2128
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /note="adaptor related protein complex 1 subunit sigma 2"
                     /db_xref="GeneID:8905"
                     /db_xref="HGNC:HGNC:560"
                     /db_xref="MIM:300629"
     exon            1..126
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..609
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     clathrin adaptor complex AP1 sigma 1B subunit; clathrin
                     assembly protein complex 1 sigma-1B small chain; AP-1
                     complex subunit sigma-2; sigma1B-adaptin; adaptor-related
                     protein complex 1 subunit sigma-1B; adaptor related
                     protein complex 1 sigma 2 subunit; adaptor protein complex
                     AP-1 sigma-1B subunit; golgi adaptor HA1/AP1 adaptin
                     sigma-1B subunit; adapter-related protein complex 1
                     sigma-1B subunit"
                     /codon_start=1
                     /product="AP-1 complex subunit sigma-2 isoform 1"
                     /protein_id="NP_001259000.1"
                     /db_xref="CCDS:CCDS75958.1"
                     /db_xref="GeneID:8905"
                     /db_xref="HGNC:HGNC:560"
                     /db_xref="MIM:300629"
                     /translation="MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPK
                     MCSFLEWRDLKIVYKRYASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDI
                     IFNFEKAYFILDEFLLGGEVQETSKKNVLKAIEQADLLQEDAKEAETPRSVLEEIGLT
                     "
     exon            127..305
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     exon            306..414
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     exon            415..552
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     exon            553..561
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     exon            562..2128
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1844..1849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /note="hexamer: AATAAA"
     polyA_site      1866
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /note="major polyA site"
     regulatory      2103..2108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
                     /note="hexamer: AATAAA"
     polyA_site      2128
                     /gene="AP1S2"
                     /gene_synonym="DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS;
                     SIGMA1B"
ORIGIN      
        1 atgccagccg ggtgtcctcc ccacagcacc acggcttctc ttcctcagca cggcgacagg
       61 ggcttcccct tcgccgccgc cgccgccgcc ggccaagctc cgccgcgccc gcggcccgcg
      121 gccgccatgc agtttatgtt gctttttagt cgtcagggaa agcttcgact gcaaaaatgg
      181 tatgtcccac tatcagacaa agagaagaaa aagatcacaa gagaacttgt tcagaccgtt
      241 ttagcacgga aacctaaaat gtgcagcttc cttgagtggc gagatctgaa gattgtttac
      301 aaaagatatg ctagtctgta tttttgctgt gctattgagg atcaggacaa tgaactaatt
      361 accctggaaa taattcatcg ttatgtggaa ttacttgaca agtatttcgg cagtgtctgt
      421 gaactagata tcatctttaa ttttgagaag gcttatttta ttttggatga gtttcttttg
      481 ggaggggaag ttcaggaaac atccaagaaa aatgtcctta aagcaattga gcaggctgat
      541 ctactgcagg aggatgcgaa agaagctgaa accccacgta gtgttcttga agaaattgga
      601 ctgacataac tctcctccct tgttgatgac ttcttgtggc atttcacaca ctgtagatgg
      661 tcactccctt catgtccatg ttagctcatg gtgtaagatg atgtcttgtc agtattactg
      721 ttttgctaag ccgcttcatt catgcctaca caattttttt ttaaaaggga actttagtta
      781 attaagtgat aagggactta aatatgaatt agaatggtgc agaaagagat accttttctg
      841 gatattttaa agtttaaagg tcagtttctc ttaatctgat tatgtgcaca tatgaaaatg
      901 gcacatcata tacatgtaaa atcaggcagt atacatttat taattactgt atttgacaaa
      961 ggaaactctt aaattataat gtgaaacctg gttttatgaa accaaagact agtgcagcat
     1021 ttcagcatat gtaaaaaaaa aaaaaaaggg aattgacatg tcacatatca aatgaatgga
     1081 aactttgttg aaactttaaa aagcaaattt actccaaaga cttgtattgg aaattacata
     1141 cctttttttt ttttttttaa aggactacag attattttta atgactaaat tggagtgata
     1201 cttcttacac taaaaattat ttcttaggca ttctgaatct gggatgagaa acaggattgt
     1261 ttcacaatag taagcacata atttttaagg ccaaggcaca tttgactcct gagatgaatt
     1321 ttttgtggtc ataatcaaat acttagttgt ttttgatgcc ccaaaataaa gtgagaatgg
     1381 taatttgcca ggaattcttc ataacagtat cttacaaaaa acgtgttgct ctcttcacag
     1441 tattatgtgt aaagtcattg tttaaagcac gaatgttccc tctggggtac ttgttaaagc
     1501 taaatttatt ttgcttccct ccacttagaa gtgctgcaca ctttacagca gcttcctttc
     1561 tttccatggc actgcctagt taacagaagt cttataaaaa tttaaaaaga cacatttctt
     1621 acaaaaaaga gttgaatgag gtaaaatggc attagatggc tctatatttt ttaaagctat
     1681 gtaattgttc agcgtcactt ttctaagtac ttatacatat ctaaacatgt cttcatggtt
     1741 tatattttca cttatatatg ctgggctgga ttaagctttg ttgtgattgt gaccaacatt
     1801 caggccacgt gagcactgtc ttatcacatc gccaattagt tgtaataaac gttcaacgta
     1861 caaacactgg agtgtgtttt tatctctttc caaaagtttg tcaaactatg cagagctgct
     1921 gaaggaagaa tttctcattt ttttttcagt aaaatgttga aaattcccct ccatttgaat
     1981 atggtggttg ttataagcac acacaagata catggtggaa gatctaagga gtcttcatgt
     2041 acttcattaa aaaataacat ggattccata ctgagagcct atctacacat ttattttcaa
     2101 tcaataaatg ctgcttttaa aaccttga
//
