LOCUS       NM_207044               2856 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens endosulfine alpha (ENSA), transcript variant 4, mRNA.
ACCESSION   NM_207044
VERSION     NM_207044.2
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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 2856)
  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 AL711949.1, BQ883543.1,
            AF067170.1, BM771663.1, BQ005654.1, AW409955.1 and CB243574.1.
            
            On Aug 13, 2020 this sequence version replaced NM_207044.1.
            
            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 (4), also known as beta
            endosulfine, lacks an in-frame exon in the coding region and
            differs in the 3' end-region compared to variant 1. The resulting
            isoform (4) lacks an internal region and has a shorter C-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 :: BC068544.1, AF067170.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-431               AL711949.1         14-444
            432-816             BQ883543.1         404-788
            817-1454            AF067170.1         785-1422
            1455-1865           BM771663.1         111-521
            1866-2503           BQ005654.1         19-656              c
            2504-2849           AW409955.1         45-390              c
            2850-2856           CB243574.1         18-24               c
FEATURES             Location/Qualifiers
     source          1..2856
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..2856
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="endosulfine alpha"
                     /db_xref="GeneID:2029"
                     /db_xref="HGNC:HGNC:3360"
                     /db_xref="MIM:603061"
     exon            1..199
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..496
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /codon_start=1
                     /product="alpha-endosulfine isoform 4"
                     /protein_id="NP_996927.1"
                     /db_xref="CCDS:CCDS963.1"
                     /db_xref="GeneID:2029"
                     /db_xref="HGNC:HGNC:3360"
                     /db_xref="MIM:603061"
                     /translation="MSQKQEEENPAEETGEEKQDTQEKEGILPERAEEAKLKAKYPSL
                     GQKPGGSDFLMKRLQKGQKYFDSGDYNMAKAKMKNKQLPSAGPDKNLVTGDHIPTPQD
                     LPQRKSSLVTSKLAG"
     exon            200..325
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            326..2856
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1087..1092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: TATAAA"
     polyA_site      1118
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="major polyA site"
     regulatory      2495..2500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: AATATA"
     polyA_site      2525
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="major polyA site"
     regulatory      2821..2826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: ATTAAA"
     regulatory      2835..2840
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: ATTAAA"
     polyA_site      2844
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="major polyA site"
     polyA_site      2856
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="major polyA site"
ORIGIN      
        1 acgggcaagg gccgccattt tgactgagca accctagtga caggagccga agcagcagcg
       61 caggttgtcc ccgtttcccc tcccccttcc cttctccggt tgccttcccg ggccccttac
      121 actccacagt cccggtcccg ccatgtccca gaaacaagaa gaagagaacc ctgcggagga
      181 gaccggcgag gagaagcagg acacgcagga gaaagaaggt attctgcctg agagagctga
      241 agaggcaaag ctaaaggcca aatacccaag cctaggacaa aagcctggag gctccgactt
      301 cctcatgaag agactccaga aagggcaaaa gtactttgac tcaggagact acaacatggc
      361 caaagccaag atgaagaata agcagctgcc aagtgcagga ccagacaaga acctggtgac
      421 tggtgatcac atccccaccc cacaggatct gccccagaga aagtcctcgc tcgtcaccag
      481 caagcttgcg gggtaacctg agcccccctc tcctcccctt cctcaaccac tggacgttta
      541 tatattatag gcagggatga aatgggcacc tagtcagatc ttctcagctt gctagccaga
      601 aatgactgtg attctgctgg gggctgctga gaaggtaatg taggttgaaa aggggctcta
      661 agtttattta tttcgttaga ttgacacttc cacacactcc ctgtagtcca ggtagggccc
      721 agaaatagga aaggctagga ttggataatg ctgcaaatgc tttttttgtg tgagaaactg
      781 gagagatgtg atttctcctt ttgggagaga atgtcccaaa attgattagg ctgagccttg
      841 ggaatagttt ggcaggttta acatcccaag gctaacctaa cgtagttggg aaaggtagat
      901 tgaatgagac atgttttctg tgcttctaag tgttctgtcc cttaggctgc tattgcttca
      961 tgtttccatt atggcaggtt tagagaatcc ttaaaaagaa aaattgactt gcttgcctaa
     1021 aactacagtg cccccttagc ctccattact tagtatctct tacagtttgc tctggctctc
     1081 aaataatata aagattgatg aacattattc acagaaaatg ggcaccttct ctctctcttc
     1141 cagcatgttg cttttgaaag tatcatggga tagtgggacg agcactggtt taggagtcaa
     1201 gatatctggg ttctcactct actcagtccc agcagagctg ttgtataacc ttgattaagt
     1261 catttagcct ctctggattt ctatttcctc atctgtaaaa tagagttaaa tgtatgtaag
     1321 attgattctg attctgaagt cttaactgcc agcagaaaaa ctccatactg ttcattgtaa
     1381 aactaaaagt gaggaaggct cgtgggtggt gaacctctgc tctgtaatac tgggaaagta
     1441 ctacagaggg gaaccatttg agggatacat gaggagagag taaattgagg tttggggatt
     1501 ataaattcag gcaagagaac cttatagata tcacagtctt gagggtcaaa aaaaaatact
     1561 taggaagcta gccatggaag cttcttgcct ctgacccagc ccactttccc agcctacctc
     1621 tgggccttag ctgctaaaaa gcttctctgg cagcggagct gcaggcctga ggaaacatgc
     1681 tcagtcatgc acatgtgttg acccatgttt cagatgcagt ctgatgccag gtatattgtt
     1741 agggaaagag gaagaagggt aaactgagct agcccctggg gctgagtact cctgcagggc
     1801 tggaggaaca ggttcttaga agatgattca ccttggagga agctggggaa agtggttagg
     1861 gagggagagg aggaagactg agaaatctct gcatccccag aactcagcaa cccagctctt
     1921 ttatcatgag gagaggtagc catgctgact catgaacagg tggaggaaag gggttgcagg
     1981 tgaccagcat cttcaatcta gttaccacca gcttggctag aattttattg aacgcaactt
     2041 gctagttatg acagagagga ccagggtgag aactaatgct caagagagca agattctgta
     2101 atcctcttgc cctctcacat cacaaattct gatatgccaa acatttggcc caatgagaat
     2161 gactgataga cttgctgatg tgcatgtggg gggatgaggt gtgtatatgc ctttctcctg
     2221 actggccatt cagtgttcag gctgtcattc aaattggata ggagaaagtt ggtgaggaag
     2281 gaatggagag agcaggatcc ctggactccc tggtccccaa actccttgac tgtcacttgt
     2341 aattgtatat aatttttgtg tttcttgctc catttcctca tgctgtcatc cttaaagtcc
     2401 atctgggaag gggaaaatgc tgaacaccat tgtatagttt cttcaactgt cccagccatg
     2461 ttgtacatag atatgtcatg ttattatata tataaatata tatataattt tgtacgtttt
     2521 cttcatctcc gatcttctca aattctgtac tttttttctt ttctgtctga gctgccttct
     2581 ctatcattca gcttgagtcc tcaagactac tggtcacaat gagtctgatt tttaggaagg
     2641 aataggagga gcagggaaat cagaaaaact gttggtctca ctctgtctct ctacctggtc
     2701 atcttcaagg ctaagaaaac aaacaagcta cattctgtat ttgccagttt ccacagcatg
     2761 aagtacatag cttccttagc aaggagtggt cattccaaaa tccaaatgca aattgctttg
     2821 attaaaccta gattattaaa tccattcaga acagca
//
