LOCUS       NM_207045               2034 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens endosulfine alpha (ENSA), transcript variant 5, mRNA.
ACCESSION   NM_207045
VERSION     NM_207045.2
KEYWORDS    RefSeq.
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 2034)
  AUTHORS   Thapa,C., Roivas,P., Haataja,T., Permi,P. and Pentikainen,U.
  TITLE     Interaction mechanism of endogenous PP2A inhibitor protein ENSA
            with PP2A
  JOURNAL   FEBS J 289 (2), 519-534 (2022)
   PUBMED   34346186
  REMARK    GeneRIF: Interaction mechanism of endogenous PP2A inhibitor protein
            ENSA with PP2A.
REFERENCE   2  (bases 1 to 2034)
  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 2034)
  AUTHORS   Yi,Z., Ouyang,J., Sun,W., Li,S., Xiao,X. and Zhang,Q.
  TITLE     Comparative exome sequencing reveals novel candidate genes for
            retinitis pigmentosa
  JOURNAL   EBioMedicine 56, 102792 (2020)
   PUBMED   32454406
  REMARK    GeneRIF: Comparative exome sequencing reveals novel candidate genes
            for retinitis pigmentosa.
            Erratum:[EBioMedicine. 2022 Mar;77:103913. doi:
            10.1016/j.ebiom.2022.103913.. PMID: 35248995]
REFERENCE   4  (bases 1 to 2034)
  AUTHORS   Charrasse,S., Gharbi-Ayachi,A., Burgess,A., Vera,J., Hached,K.,
            Raynaud,P., Schwob,E., Lorca,T. and Castro,A.
  TITLE     Ensa controls S-phase length by modulating Treslin levels
  JOURNAL   Nat Commun 8 (1), 206 (2017)
   PUBMED   28785014
  REMARK    GeneRIF: The extended S phase in Ensa-depleted cells is completely
            rescued by the overexpression of Treslin.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2034)
  AUTHORS   Hegarat,N., Vesely,C., Vinod,P.K., Ocasio,C., Peter,N., Gannon,J.,
            Oliver,A.W., Novak,B. and Hochegger,H.
  TITLE     PP2A/B55 and Fcp1 regulate Greatwall and Ensa dephosphorylation
            during mitotic exit
  JOURNAL   PLoS Genet 10 (1), e1004004 (2014)
   PUBMED   24391510
  REMARK    GeneRIF: Taken together our results suggest a hierarchy of
            phosphatases coordinating Greatwall, Ensa/ARPP19 and Cdk substrate
            dephosphorylation during mitotic exit.
            Erratum:[PLoS Genet. 2014 Feb;10(2):e1004259]
REFERENCE   6  (bases 1 to 2034)
  AUTHORS   Wang,H., Craig,R.L., Schay,J., Chu,W., Das,S.K., Zhang,Z. and
            Elbein,S.C.
  TITLE     Alpha-endosulfine, a positional and functional candidate gene for
            type 2 diabetes: molecular screening, association studies, and role
            in reduced insulin secretion
  JOURNAL   Mol Genet Metab 81 (1), 9-15 (2004)
   PUBMED   14728986
  REMARK    GeneRIF: We mapped ENSA in silico to chromosome 1q21 near a
            confirmed type 2 diabetes susceptibility locus, and derived the
            genomic structure of four exons and three introns.
REFERENCE   7  (bases 1 to 2034)
  AUTHORS   Kim,S.H. and Lubec,G.
  TITLE     Decreased alpha-endosulfine, an endogenous regulator of
            ATP-sensitive potassium channels, in brains from adult Down
            syndrome patients
  JOURNAL   J Neural Transm Suppl (61), 1-9 (2001)
   PUBMED   11771735
  REMARK    GeneRIF: The considerably decreased alpha-endosulfine could result
            in the continuous opening of K(ATP) channels and the subsequent
            decrease of neurotransmitters release associated with cognition in
            Down Syndrome.
REFERENCE   8  (bases 1 to 2034)
  AUTHORS   Bataille,D.
  TITLE     Endosulfines: Novel regulators of insulin secretion
  JOURNAL   Drug News Perspect 13 (8), 453-462 (2000)
   PUBMED   12937617
REFERENCE   9  (bases 1 to 2034)
  AUTHORS   Heron,L., Virsolvy,A., Apiou,F., Le Cam,A. and Bataille,D.
  TITLE     Isolation, characterization, and chromosomal localization of the
            human ENSA gene that encodes alpha-endosulfine, a regulator of
            beta-cell K(ATP) channels
  JOURNAL   Diabetes 48 (9), 1873-1876 (1999)
   PUBMED   10480622
REFERENCE   10 (bases 1 to 2034)
  AUTHORS   Heron,L., Virsolvy,A., Peyrollier,K., Gribble,F.M., Le Cam,A.,
            Ashcroft,F.M. and Bataille,D.
  TITLE     Human alpha-endosulfine, a possible regulator of
            sulfonylurea-sensitive KATP channel: molecular cloning, expression
            and biological properties
  JOURNAL   Proc Natl Acad Sci U S A 95 (14), 8387-8391 (1998)
   PUBMED   9653196
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356356.17, T78564.1,
            BE799496.1, BU858280.1, AK001981.1 and BM984677.1.
            
            On Jun 2, 2019 this sequence version replaced NM_207045.1.
            
            Summary: The protein encoded by this gene belongs to a highly
            conserved cAMP-regulated phosphoprotein (ARPP) family. This protein
            was identified as an endogenous ligand for the sulfonylurea
            receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the
            ATP-sensitive potassium (KATP) channel, which is located on the
            plasma membrane of pancreatic beta cells and plays a key role in
            the control of insulin release from pancreatic beta cells. This
            protein is thought to be an endogenous regulator of KATP channels.
            In vitro studies have demonstrated that this protein modulates
            insulin secretion through the interaction with KATP channel, and
            this gene has been proposed as a candidate gene for type 2
            diabetes. At least eight alternatively spliced transcript variants
            encoding distinct isoforms have been observed. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (5) has an alternate 5' exon
            compared to variant 1. The resulting isoform (5) has a distinct and
            shorter N-terminus, as compared to isoform 1.
            
            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 :: SRR1163658.229920.1,
                                           SRR1163658.405063.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL356356.17        156396-156401       c
            7-43                T78564.1           16-52
            44-205              BE799496.1         58-219
            206-620             BU858280.1         194-608
            621-1152            AK001981.1         677-1208
            1153-1157           BM984677.1         14-18               c
            1158-2034           AL356356.17        148508-149384       c
FEATURES             Location/Qualifiers
     source          1..2034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2034
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="endosulfine alpha"
                     /db_xref="GeneID:2029"
                     /db_xref="HGNC:HGNC:3360"
                     /db_xref="MIM:603061"
     exon            1..79
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..436
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /codon_start=1
                     /product="alpha-endosulfine isoform 5"
                     /protein_id="NP_996928.1"
                     /db_xref="CCDS:CCDS960.1"
                     /db_xref="GeneID:2029"
                     /db_xref="HGNC:HGNC:3360"
                     /db_xref="MIM:603061"
                     /translation="MAGGLGCDVCYWFVEDTQEKEGILPERAEEAKLKAKYPSLGQKP
                     GGSDFLMKRLQKGDYKSLHWSVLLCADEMQKYFDSGDYNMAKAKMKNKQLPSAGPDKN
                     LVTGDHIPTPQDLPQRKSSLVTSKLAGGQVE"
     exon            80..205
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            206..253
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            254..420
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            421..2034
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1123..1128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: AACAAA"
     polyA_site      1155
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="major polyA site"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: AACAAG"
     polyA_site      2034
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
ORIGIN      
        1 gcgggtggtt ggaaagacgg tgaatggaaa ggggatggct ggtggtcttg ggtgtgatgt
       61 gtgttattgg tttgtagagg acacgcagga gaaagaaggt attctgcctg agagagctga
      121 agaggcaaag ctaaaggcca aatacccaag cctaggacaa aagcctggag gctccgactt
      181 cctcatgaag agactccaga aaggggatta taaatcatta cattggagtg tgcttctctg
      241 tgcggatgaa atgcaaaagt actttgactc aggagactac aacatggcca aagccaagat
      301 gaagaataag cagctgccaa gtgcaggacc agacaagaac ctggtgactg gtgatcacat
      361 ccccacccca caggatctgc cccagagaaa gtcctcgctc gtcaccagca agcttgcggg
      421 tggccaagtt gaatgatgct gcccggggct ctgccagatc ctgagacgct tcccctccct
      481 gccccacccg ggtcctgtgc tggctcctgc cccttcctgc ttttgcagcc aggggtcagg
      541 aggtggctcg ggtgtgggct ggagaggcag aagccctttc ctgttggtgt cccagcacat
      601 ggagcccctt gggctgagca ccaagacctt gaaccttttt tgttttacct tttttccaaa
      661 taacagttgg gagaaatatc aatgaaattc tgggggtggg ggtggggttg aaagggtggg
      721 gtgggagata tggaggagta tgaattaggg cttggagttg gtaaaaacat tcctgactat
      781 ccttcttaac cacgtggctg atgtggggta ggtatgaggg gaaggaagtg gagtagccta
      841 atgaaaaggg gttctagttg agctctgtag ataaatgcct tgtttcagtg tggttggaga
      901 cctggtgtca gataaaagaa actccatccg cacagacaga tgcaaacagc tcctctagtt
      961 ctgcagagct agttgagaac tcaacattaa tcattttaaa aagtactgtc cttgaaatag
     1021 atttgctgtg ggaagaaggg cagtgagtgt gggagaaagg agccgtgagc gtggggaacc
     1081 ccacagagcc caaaggactt tttcagtatt cgaaataaac aaaacaaaaa cccatgaaaa
     1141 aacccaaccc agaaatattc tgaagcagtt ggtgtgtttt attggggttt gggaggggga
     1201 agaaaacaat actgaagaca ttgttaatgt gagatgcggc tgagttcccc aataccatca
     1261 cttaggaaag ggagcaggaa tgttggcata aaccttgccc atccctttgt ttctgtaacc
     1321 aatgtagaag gtgcatcaac ctcagtttgt ggctcacaaa atgaggcatt taagatattt
     1381 gatctaaatg gtttcttgac acctaagcct agtccaggtt tagcagaaaa ggaggcccag
     1441 tctccttttc cctctgtctt ccattccttt tcaagttccc atgtttgtga gggagaaatg
     1501 tgacaaacca aaagaaatat attatttctt tgtaataagc caaaagaaac tcaagtcttt
     1561 ctgctggtgg ccagcaggag gcagagtgat ttctttcctc atgatgtgcc aatctgcatt
     1621 gctggaaacc tgctactgaa agaagttaaa agctgcctgt gaatgtaacg tacaaaagaa
     1681 aggttaccaa aggagaaaaa actccagcgg gtgtacggtg gctcacgcct ataattccag
     1741 cactttggga ggccaaggtg ggtggatcac ttgaggtcag gagtttgaga ccagcctagc
     1801 caacatggtg aaaccccatc tctactaaaa atacaaaaat tagccgggcg tggcggcaca
     1861 tgcctataat cccacttact tgggaggctg aggtaggaga atcgcttgaa cccaggaggc
     1921 agagtttgca gtgagccgag attgtgccat tgcactccag cctgggcgac agagcgagac
     1981 tccatctaaa aaaaataaat gaataaaata aaacaagtac aaatttaaac taga
//
