LOCUS       NM_004436               1227 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens endosulfine alpha (ENSA), transcript variant 3, mRNA.
ACCESSION   NM_004436
VERSION     NM_004436.4
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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 1227)
  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 and BC004461.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 27, 2019 this sequence version replaced NM_004436.3.
            
            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 (3), also known as alpha
            endosulfine, lacks an in-frame coding segment compared to variant
            1. The resulting isoform (3) lacks an internal region, 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 :: BC000436.2, AK001981.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369014.10/ ENSP00000358010.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-325               AL711949.1         14-338
            326-1227            BC004461.1         284-1185
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1227
                     /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..508
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /codon_start=1
                     /product="alpha-endosulfine isoform 3"
                     /protein_id="NP_004427.1"
                     /db_xref="CCDS:CCDS958.1"
                     /db_xref="GeneID:2029"
                     /db_xref="HGNC:HGNC:3360"
                     /db_xref="MIM:603061"
                     /translation="MSQKQEEENPAEETGEEKQDTQEKEGILPERAEEAKLKAKYPSL
                     GQKPGGSDFLMKRLQKGQKYFDSGDYNMAKAKMKNKQLPSAGPDKNLVTGDHIPTPQD
                     LPQRKSSLVTSKLAGGQVE"
     exon            200..325
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            326..492
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     exon            493..1227
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1195..1200
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENSA"
                     /gene_synonym="ARPP-19e"
                     /note="hexamer: AACAAA"
     polyA_site      1227
                     /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 ggtggccaag ttgaatgatg ctgcccgggg ctctgccaga tcctgagacg
      541 cttcccctcc ctgccccacc cgggtcctgt gctggctcct gccccttcct gcttttgcag
      601 ccaggggtca ggaggtggct cgggtgtggg ctggagaggc agaagccctt tcctgttggt
      661 gtcccagcac atggagcccc ttgggctgag caccaagacc ttgaaccttt tttgttttac
      721 cttttttcca aataacagtt gggagaaata tcaatgaaat tctgggggtg ggggtggggt
      781 tgaaagggtg gggtgggaga tatggaggag tatgaattag ggcttggagt tggtaaaaac
      841 attcctgact atccttctta accacgtggc tgatgtgggg taggtatgag gggaaggaag
      901 tggagtagcc taatgaaaag gggttctagt tgagctctgt agataaatgc cttgtttcag
      961 tgtggttgga gacctggtgt cagataaaag aaactccatc cgcacagaca gatgcaaaca
     1021 gctcctctag ttctgcagag ctagttgaga actcaacatt aatcatttta aaaagtactg
     1081 tccttgaaat agatttgctg tgggaagaag ggcagtgagt gtgggagaaa ggagccgtga
     1141 gcgtggggaa ccccacagag cccaaaggac tttttcagta ttcgaaataa acaaaacaaa
     1201 aacccatgaa aaaacccaac ccagaaa
//
