LOCUS       NM_001283               1226 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens adaptor related protein complex 1 subunit sigma 1
            (AP1S1), mRNA.
ACCESSION   NM_001283
VERSION     NM_001283.5
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 1226)
  AUTHORS   Klee,K.M.C., Janecke,A.R., Civan,H.A., Rosipal,S., Heinz-Erian,P.,
            Huber,L.A., Muller,T. and Vogel,G.F.
  TITLE     AP1S1 missense mutations cause a congenital enteropathy via an
            epithelial barrier defect
  JOURNAL   Hum Genet 139 (10), 1247-1259 (2020)
   PUBMED   32306098
  REMARK    GeneRIF: AP1S1 missense mutations cause a congenital enteropathy
            via an epithelial barrier defect.
REFERENCE   2  (bases 1 to 1226)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1226)
  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   4  (bases 1 to 1226)
  AUTHORS   Folsch,H.
  TITLE     Role of the epithelial cell-specific clathrin adaptor complex AP-1B
            in cell polarity
  JOURNAL   Cell Logist 5 (2), e1074331 (2015)
   PUBMED   27057418
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1226)
  AUTHORS   Martinelli,D., Travaglini,L., Drouin,C.A., Ceballos-Picot,I.,
            Rizza,T., Bertini,E., Carrozzo,R., Petrini,S., de Lonlay,P., El
            Hachem,M., Hubert,L., Montpetit,A., Torre,G. and Dionisi-Vici,C.
  TITLE     MEDNIK syndrome: a novel defect of copper metabolism treatable by
            zinc acetate therapy
  JOURNAL   Brain 136 (Pt 3), 872-881 (2013)
   PUBMED   23423674
  REMARK    GeneRIF: We solved the pathogenetic mechanism of MEDNIK syndrome,
            demonstrating that AP1S1 regulates intracellular copper machinery
            mediated by copper-pump proteins
            Erratum:[Brain. 2013 Oct;136(Pt 10):e256]
REFERENCE   6  (bases 1 to 1226)
  AUTHORS   Folsch,H., Ohno,H., Bonifacino,J.S. and Mellman,I.
  TITLE     A novel clathrin adaptor complex mediates basolateral targeting in
            polarized epithelial cells
  JOURNAL   Cell 99 (2), 189-198 (1999)
   PUBMED   10535737
REFERENCE   7  (bases 1 to 1226)
  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   8  (bases 1 to 1226)
  AUTHORS   Peyrard,M., Parveneh,S., Lagercrantz,S., Ekman,M., Fransson,I.,
            Sahlen,S. and Dumanski,J.P.
  TITLE     Cloning, expression pattern, and chromosomal assignment to 16q23 of
            the human gamma-adaptin gene (ADTG)
  JOURNAL   Genomics 50 (2), 275-280 (1998)
   PUBMED   9653655
REFERENCE   9  (bases 1 to 1226)
  AUTHORS   Alsaif,H.S. and Alkuraya,F.S.
  TITLE     IDEDNIK Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   39541497
REFERENCE   10 (bases 1 to 1226)
  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
  REMARK    GeneRIF: Isolation and description of the rat and mouse genes.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312151.1, AL578356.3,
            CA426442.1 and AC004876.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001283.4.
            
            Summary: The protein encoded by this gene is part of the clathrin
            coat assembly complex which links clathrin to receptors in coated
            vesicles. These vesicles are involved in endocytosis and Golgi
            processing. This protein, as well as beta-prime-adaptin,
            gamma-adaptin, and the medium (mu) chain AP47, form the AP-1
            assembly protein complex located at the Golgi vesicle. [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 :: SRR1163655.116834.1,
                                           SRR1163655.331106.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337619.11/ ENSP00000336666.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-516               AK312151.1         38-553
            517-972             AL578356.3         221-676             c
            973-1210            CA426442.1         34-271              c
            1211-1213           AC004876.2         57296-57298
            1214-1226           CA426442.1         18-30               c
FEATURES             Location/Qualifiers
     source          1..1226
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1226
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /note="adaptor related protein complex 1 subunit sigma 1"
                     /db_xref="GeneID:1174"
                     /db_xref="HGNC:HGNC:559"
                     /db_xref="MIM:603531"
     exon            1..42
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..516
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /note="clathrin-associated/assembly/adaptor protein, small
                     1 (19kD); golgi adaptor HA1/AP1 adaptin sigma-1A subunit;
                     clathrin assembly protein complex 1 sigma-1A small chain;
                     HA1 19 kDa subunit; adaptor related protein complex 1
                     sigma 1 subunit; sigma1A subunit of AP-1 clathrin adaptor
                     complex; sigma1A-adaptin; clathrin coat assembly protein
                     AP19; adaptor protein complex AP-1 subunit sigma-1A;
                     adaptor-related protein complex 1 subunit sigma-1A;
                     adapter-related protein complex 1 sigma-1A subunit"
                     /codon_start=1
                     /product="AP-1 complex subunit sigma-1A"
                     /protein_id="NP_001274.1"
                     /db_xref="CCDS:CCDS47669.1"
                     /db_xref="GeneID:1174"
                     /db_xref="HGNC:HGNC:559"
                     /db_xref="MIM:603531"
                     /translation="MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKP
                     KMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELD
                     IIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA"
     exon            43..221
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            222..330
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            331..468
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            469..1226
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1203..1208
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /note="hexamer: AATAAA"
     polyA_site      1226
                     /gene="AP1S1"
                     /gene_synonym="AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A"
                     /note="major polyA site"
ORIGIN      
        1 ggtggccgaa gtgggacgcg ccgagccgga ggctgcagga tgatgcggtt catgctatta
       61 ttcagccggc agggaaaact gcggctgcaa aaatggtacc tggccacttc ggacaaggaa
      121 cggaagaaga tggtgcgcga gctcatgcag gttgtcctgg ctcgaaagcc caagatgtgc
      181 agcttcctgg agtggaggga cctcaaagtt gtctataaga gatatgccag cctctacttc
      241 tgctgcgcca tcgagggcca agacaatgag ctcatcacac tggagctgat ccaccgatac
      301 gtggagctct tagacaaata ctttggcagt gtgtgcgagc tggacatcat cttcaacttt
      361 gagaaggcct acttcatcct ggatgagttt ttgatggggg gggatgtcca ggacacctcc
      421 aagaagagtg tgctgaaagc catcgagcag gctgacctac tgcaagagga ggatgagtcg
      481 ccacggagtg tgctggagga gatgggtttg gcatagcccc tgctgggccg gggtgtggcg
      541 atggggtcct ggcagcgtgg cgggaacggc tgcttctcct ctgcccaggg ccctgttctt
      601 ggtgggactc ggctgcccct cctctgctgc ctcacctttc ggagtgagct gtgggctcag
      661 gcccttcaaa cattccctcc ctccaccccc tacctccact ttcccctttt cccactgaag
      721 gttttagaag ctaggaggca ggaaaatgtg acccagatgg gggtgctatt tggcttttat
      781 tccctgcctt tgcagaactg atgtcacccc agatgtcctt ccctccctaa taactgtaaa
      841 tatataaata tgtcaggtta aagggaaaag gtgttcaggg cacttcttgt cctctctgtc
      901 ccataaccta cctccaccct ccccctagcc agccaggcag cttctctgcc tgggagggga
      961 gcctggaccc ccctctttct ccttggctgc agtggggcct ttatccagtg ccagggagga
     1021 acaacatagt taattttttt ctaaccttgc cactttgagg gaaggaaggg ttgggggaag
     1081 ggcaagcttt atgggaccct ggtcctggcc ctggcctttc actccagttc tgggtgaggc
     1141 aggagctggg aggggtgggg agggggaggg ggaagtgtct gcctttatgt cctttcttct
     1201 gaaataaaag taaaagcatt tctgga
//
