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    ENSA endosulfine alpha [ Homo sapiens (human) ]

    Gene ID: 2029, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ENSAprovided by HGNC
    Official Full Name
    endosulfine alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3360
    See related
    Ensembl:ENSG00000143420 MIM:603061; AllianceGenome:HGNC:3360
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARPP-19e
    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]
    Expression
    Ubiquitous expression in brain (RPKM 40.0), esophagus (RPKM 33.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENSA in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150621246..150629612, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149745280..149753646, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150593722..150602088, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:150550344-150551543 Neighboring gene Sharpr-MPRA regulatory region 9 Neighboring gene uncharacterized LOC107985203 Neighboring gene MCL1 apoptosis regulator, BCL2 family member Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150569961-150570462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150570463-150570962 Neighboring gene uncharacterized LOC124900445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150577106-150577944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150580942-150581628 Neighboring gene Sharpr-MPRA regulatory region 10549 Neighboring gene Sharpr-MPRA regulatory region 6366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150598651-150599182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150601815-150602782 Neighboring gene uncharacterized LOC112268239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150602783-150603752 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:150606865-150607490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150607491-150608116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608117-150608742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608743-150609367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150610512-150611128 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150613593-150614208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150619341-150619842 Neighboring gene golgi phosphoprotein 3 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ENSA expression correlates with attenuated tumor propagation in liver cancer. Chen YL, et al. Biochem Biophys Res Commun, 2013 Dec 6. PMID 24211627
    2. Molecular characterization of a local sulfonylurea system in human adipose tissue. Gabrielsson BG, et al. Mol Cell Biochem, 2004 Mar. PMID 15030171
    3. Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta-cell K(ATP) channels. Héron L, et al. Diabetes, 1999 Sep. PMID 10480622
    4. The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. Thameem F, et al. Mol Genet Metab, 2004 Jan. PMID 14728987
    5. Decreased alpha-endosulfine, an endogenous regulator of ATP-sensitive potassium channels, in brains from adult Down syndrome patients. Kim SH, et al. J Neural Transm Suppl, 2001. PMID 11771735

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A.
      Title: Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A.
    2. Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
      Title: Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
    3. The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin.
      Title: Ensa controls S-phase length by modulating Treslin levels.
    4. Taken together our results suggest a hierarchy of phosphatases coordinating Greatwall, Ensa/ARPP19 and Cdk substrate dephosphorylation during mitotic exit.
      Title: PP2A/B55 and Fcp1 regulate Greatwall and Ensa dephosphorylation during mitotic exit.
    5. Overexpressed ENSA suppresses tumor growth in an established hepatic cell line whereas hypermethylated ENSA might help maintain liver cancer initiating cells.
      Title: ENSA expression correlates with attenuated tumor propagation in liver cancer.
    6. 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.
      Title: Decreased alpha-endosulfine, an endogenous regulator of ATP-sensitive potassium channels, in brains from adult Down syndrome patients.
    7. The ENSA gene on 1q21 produces several alternatively spliced transcripts, and is located within a region linked with T2DM in diverse populations including the Pima Indians
      Title: The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians.
    8. 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.
      Title: Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4319, MGC8394, MGC78563

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ion channel inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables phosphatase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables potassium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein phosphatase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G2/M transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to nutrient TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-endosulfine

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029499.1 RefSeqGene

      Range
      5011..12498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004436.4 → NP_004427.1  alpha-endosulfine isoform 3

      See identical proteins and their annotated locations for NP_004427.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AL711949, BC004461
      Consensus CDS
      CCDS958.1
      UniProtKB/Swiss-Prot
      A8K1Z9, E9PB69, O43768, Q5T5H2, Q68D48, Q6FHW0, Q6IAM4, Q6NUL2, Q6VUC6, Q6VUC7, Q6VUC8, Q6VUC9, Q6VUD0, Q6VUD1, Q9NRZ0
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000358010.6, ENST00000369014.10
      Conserved Domains (1) summary
      pfam04667
      Location:33 → 86
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    2. NM_207042.2 → NP_996925.1  alpha-endosulfine isoform 1

      See identical proteins and their annotated locations for NP_996925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL356356, AL711949, BC004461, BM984677, BU858280
      Consensus CDS
      CCDS959.1
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000341743.5, ENST00000339643.9
      Conserved Domains (1) summary
      pfam04667
      Location:33 → 121
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    3. NM_207043.2 → NP_996926.1  alpha-endosulfine isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' end-region compared to variant 1. The resulting isoform (2) has a shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF067170, AF157510, AL711949, AW409955, BM771663, BQ005654, BQ883543, BU858280, CB243574
      Consensus CDS
      CCDS962.1
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000424242.1, ENST00000503241.1
      Conserved Domains (1) summary
      pfam04667
      Location:33 → 121
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    4. NM_207044.2 → NP_996927.1  alpha-endosulfine isoform 4

      See identical proteins and their annotated locations for NP_996927.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AF067170, AL711949, AW409955, BM771663, BQ005654, BQ883543, CB243574
      Consensus CDS
      CCDS963.1
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000271690.7, ENST00000271690.12
      Conserved Domains (1) summary
      pfam04667
      Location:33 → 86
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    5. NM_207045.2 → NP_996928.1  alpha-endosulfine isoform 5

      See identical proteins and their annotated locations for NP_996928.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AK001981, AL356356, BE799496, BM984677, BU858280, T78564
      Consensus CDS
      CCDS960.1
      UniProtKB/Swiss-Prot
      O43768
      Related
      ENSP00000355239.5, ENST00000361631.9
      Conserved Domains (1) summary
      pfam04667
      Location:29 → 117
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    6. NM_207046.2 → NP_996929.1  alpha-endosulfine isoform 6

      See identical proteins and their annotated locations for NP_996929.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate 5' exon and lacks an in-frame exon in the coding region compared to variant 1. The resulting isoform (6) has a distinct and shorter N-terminus and lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AL356356, BC004461, BE799496, BM984677, T78564
      Consensus CDS
      CCDS961.1
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000354835.5, ENST00000361532.9
      Conserved Domains (1) summary
      pfam04667
      Location:29 → 104
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    7. NM_207047.2 → NP_996930.1  alpha-endosulfine isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences compared to variant 1. The resulting isoform (7) has a distinct and shorter N-terminus and a shorter C-terminus, and lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AF067170, AL356356, AW409955, BE799496, BM771663, BQ005654, BQ883543, CB243574, T78564
      Consensus CDS
      CCDS964.1
      UniProtKB/TrEMBL
      A0A1W2PRU0
      Related
      ENSP00000422343.1, ENST00000513281.5
      Conserved Domains (1) summary
      pfam04667
      Location:29 → 104
      Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region

    8. NM_207168.2 → NP_997051.1  alpha-endosulfine isoform 8

      See identical proteins and their annotated locations for NP_997051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks multiple exons in the 3' region, and differs in the 3' end compared to variant 1. The resulting isoform (8) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL711949, AW136940, BM993811, BU075511
      Consensus CDS
      CCDS965.1
      UniProtKB/Swiss-Prot
      O43768
      Related
      ENSP00000355220.7, ENST00000362052.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150621246..150629612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149745280..149753646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43768.1 GenPept UniProtKB/Swiss-Prot:O43768

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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