Human Gene ENSA (ENST00000361631.9) from GENCODE V44
  Description: Homo sapiens endosulfine alpha (ENSA), transcript variant 5, mRNA. (from RefSeq NM_207045)
RefSeq Summary (NM_207045): 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].
Gencode Transcript: ENST00000361631.9
Gencode Gene: ENSG00000143420.19
Transcript (Including UTRs)
   Position: hg38 chr1:150,622,544-150,629,128 Size: 6,585 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr1:150,622,844-150,629,105 Size: 6,262 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:150,622,544-150,629,128)mRNA (may differ from genome)Protein (133 aa)
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-  Comments and Description Text from UniProtKB
  ID: ENSA_HUMAN
DESCRIPTION: RecName: Full=Alpha-endosulfine; AltName: Full=ARPP-19e;
FUNCTION: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents.
SUBUNIT: Interacts (when phosphorylated at Ser-67) with PPP2R2D (By similarity). Interacts with ABCC8. Interacts with SNCA; interaction is disrupted when phosphorylated at Ser-109.
INTERACTION: P25205:MCM3; NbExp=1; IntAct=EBI-714511, EBI-355153;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Widely expressed with high levels in skeletal muscle and brain and lower levels in the pancreas.
PTM: Phosphorylation at Ser-67 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA.
SIMILARITY: Belongs to the endosulfine family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ENSA
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent, 11 (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.07 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1515.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00230.000 Picture PostScript Text
3' UTR -131.10300-0.437 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006760 - Endosulphine

Pfam Domains:
PF04667 - cAMP-regulated phosphoprotein/endosulfine conserved region

ModBase Predicted Comparative 3D Structure on O43768
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004864 protein phosphatase inhibitor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008200 ion channel inhibitor activity
GO:0019212 phosphatase inhibitor activity
GO:0019870 potassium channel inhibitor activity
GO:0019888 protein phosphatase regulator activity
GO:0051721 protein phosphatase 2A binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0007049 cell cycle
GO:0007584 response to nutrient
GO:0009749 response to glucose
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:0035308 negative regulation of protein dephosphorylation
GO:0043086 negative regulation of catalytic activity
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0050796 regulation of insulin secretion
GO:0051301 cell division

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC000436 - Homo sapiens endosulfine alpha, mRNA (cDNA clone MGC:8394 IMAGE:2820528), complete cds.
BC004461 - Homo sapiens endosulfine alpha, mRNA (cDNA clone MGC:4319 IMAGE:2820528), complete cds.
AK001981 - Homo sapiens cDNA FLJ11119 fis, clone PLACE1006040, highly similar to Alpha-endosulfine.
AF157509 - Homo sapiens alpha endosulfine mRNA, complete cds.
X99906 - Homo sapiens mRNA for alpha endosulfine.
JD363817 - Sequence 344841 from Patent EP1572962.
JD479076 - Sequence 460100 from Patent EP1572962.
JD486031 - Sequence 467055 from Patent EP1572962.
JD202436 - Sequence 183460 from Patent EP1572962.
JD400327 - Sequence 381351 from Patent EP1572962.
JD400326 - Sequence 381350 from Patent EP1572962.
JD282408 - Sequence 263432 from Patent EP1572962.
JD219666 - Sequence 200690 from Patent EP1572962.
JD190149 - Sequence 171173 from Patent EP1572962.
CR536578 - Homo sapiens full open reading frame cDNA clone RZPDo834E0422D for gene ENSA, endosulfine alpha; complete cds, incl. stopcodon.
KJ896770 - Synthetic construct Homo sapiens clone ccsbBroadEn_06164 ENSA gene, encodes complete protein.
BC068544 - Homo sapiens endosulfine alpha, mRNA (cDNA clone MGC:87420 IMAGE:5273162), complete cds.
AF067170 - Homo sapiens alpha endosulfine mRNA, complete cds.
CR749580 - Homo sapiens mRNA; cDNA DKFZp779B2258 (from clone DKFZp779B2258).
AK290064 - Homo sapiens cDNA FLJ75024 complete cds, highly similar to Homo sapiens endosulfine alpha (ENSA), transcript variant 7, mRNA.
AF157510 - Homo sapiens beta endosulfine mRNA, complete cds.
CR457130 - Homo sapiens full open reading frame cDNA clone RZPDo834F117D for gene ENSA, endosulfine alpha; complete cds, incl. stopcodon.
KJ896771 - Synthetic construct Homo sapiens clone ccsbBroadEn_06165 ENSA gene, encodes complete protein.
EU832303 - Synthetic construct Homo sapiens clone HAIB:100067332; DKFZo008C0627 endosulfine alpha protein (ENSA) gene, encodes complete protein.
EU832387 - Synthetic construct Homo sapiens clone HAIB:100067416; DKFZo004C0628 endosulfine alpha protein (ENSA) gene, encodes complete protein.
LF340535 - JP 2014500723-A/148038: Polycomb-Associated Non-Coding RNAs.
MA576112 - JP 2018138019-A/148038: Polycomb-Associated Non-Coding RNAs.
BC069208 - Homo sapiens endosulfine alpha, mRNA (cDNA clone MGC:78563 IMAGE:4853917), complete cds.
AK057673 - Homo sapiens cDNA FLJ33111 fis, clone TRACH2001085.
KJ891109 - Synthetic construct Homo sapiens clone ccsbBroadEn_00503 ENSA gene, encodes complete protein.
JD020739 - Sequence 1763 from Patent EP1572962.
JD020740 - Sequence 1764 from Patent EP1572962.
JD023932 - Sequence 4956 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43768 (Reactome details) participates in the following event(s):

R-HSA-2430535 MASTL phosphorylates ENSA
R-HSA-2430552 p-S62-ARPP19/p-S67-ENSA binds PP2A-PPP2R2D
R-HSA-2465910 MASTL Facilitates Mitotic Progression
R-HSA-68875 Mitotic Prophase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1Z9, ENSA_HUMAN, ENST00000361631.1, ENST00000361631.2, ENST00000361631.3, ENST00000361631.4, ENST00000361631.5, ENST00000361631.6, ENST00000361631.7, ENST00000361631.8, NM_207045, O43768, Q5T5H2, Q68D48, Q6FHW0, Q6IAM4, Q6NUL2, Q6VUC6, Q6VUC7, Q6VUC8, Q6VUC9, Q6VUD0, Q6VUD1, Q9NRZ0, uc001evb.1, uc001evb.2, uc001evb.3, uc001evb.4
UCSC ID: ENST00000361631.9
RefSeq Accession: NM_207045
Protein: O43768 (aka ENSA_HUMAN)
CCDS: CCDS960.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.