ENSA (gene)

ENSA
Identifiers
Aliases	ENSA , ARPP-19e, endosulfine alpha
External IDs	OMIM: 603061 MGI: 1891189 HomoloGene: 37924 GeneCards: ENSA
Gene location (Human)
Chr.	Chromosome 1 (human)
End	150,629,612 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	95,539,413 bp
RNA expression pattern
	Top expressed in
	frontal pole; ; prefrontal cortex; ; skin of abdomen; ; Brodmann area 10; ; human penis; ; vulva; ; cingulate gyrus; ; dorsolateral prefrontal cortex; ; amygdala; ; hair follicle;
	Top expressed in
	superior frontal gyrus; ; prefrontal cortex; ; temporal muscle; ; vastus lateralis muscle; ; triceps brachii muscle; ; supraoptic nucleus; ; digastric muscle; ; sternocleidomastoid muscle; ; nucleus accumbens; ; olfactory tubercle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein phosphatase 2A binding ; potassium channel inhibitor activity ; signaling receptor binding ; protein binding ; ion channel inhibitor activity ; phosphatase inhibitor activity ; protein phosphatase inhibitor activity ; protein phosphatase regulator activity ;
Cellular component	nucleoplasm ; cytoplasm ;
Biological process	cell division ; cell cycle ; G2/M transition of mitotic cell cycle ; response to glucose ; response to nutrient ; regulation of insulin secretion ; negative regulation of catalytic activity ; negative regulation of protein dephosphorylation ; mitotic cell cycle ; negative regulation of phosphoprotein phosphatase activity ; regulation of phosphoprotein phosphatase activity ;
	Sources:Amigo / QuickGO
Orthologs
	2029
	56205
	ENSG00000143420
	ENSMUSG00000038619
	O43768
	P60840
NM_207168 ; NM_004436 ; NM_207042 ; NM_207043 ; NM_207044 ;
	NM_207045 ; NM_207046 ; NM_207047
	NM_001026212 ; NM_019561
NP_004427 ; NP_996925 ; NP_996926 ; NP_996927 ; NP_996928 ;
	NP_996929 ; NP_996930 ; NP_997051
	NP_001021383 ; NP_062507
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 27, 2024

Alpha-endosulfine is a protein that in humans is encoded by the ENSA gene.^[5]^[6]

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.^[6]

Related Research Articles

Beta cells (β-cells), are specialized endocrine cells located within the pancreatic islets of Langerhans responsible for the production and release of insulin and amylin. Constituting ~50–70% of cells in human islets, beta cells play a vital role in maintaining blood glucose levels. Problems with beta cells can lead to disorders such as diabetes.

An ATP-sensitive potassium channel is a type of potassium channel that is gated by intracellular nucleotides, ATP and ADP. ATP-sensitive potassium channels are composed of K_ir6.x-type subunits and sulfonylurea receptor (SUR) subunits, along with additional components. K_ATP channels are found in the plasma membrane; however some may also be found on subcellular membranes. These latter classes of K_ATP channels can be classified as being either sarcolemmal ("sarcK_ATP"), mitochondrial ("mitoK_ATP"), or nuclear ("nucK_ATP").

In molecular biology, the sulfonylurea receptors (SUR) are membrane proteins which are the molecular targets of the sulfonylurea class of antidiabetic drugs whose mechanism of action is to promote insulin release from pancreatic beta cells. More specifically, SUR proteins are subunits of the inward-rectifier potassium ion channels K_ir6.x. The association of four K_ir6.x and four SUR subunits form an ion conducting channel commonly referred to as the K_ATP channel.

K_ir6.2 is a major subunit of the ATP-sensitive K⁺ channel, a lipid-gated inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.

HNF1 homeobox A, also known as HNF1A, is a human gene on chromosome 12. It is ubiquitously expressed in many tissues and cell types. The protein encoded by this gene is a transcription factor that is highly expressed in the liver and is involved in the regulation of the expression of several liver-specific genes. Mutations in the HNF1A gene have been known to cause diabetes. The HNF1A gene also contains a SNP associated with increased risk of coronary artery disease.

G protein-coupled receptor 119 also known as GPR119 is a G protein-coupled receptor that in humans is encoded by the GPR119 gene.

ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. ABCC8 orthologs have been identified in all mammals for which complete genome data are available.

Insulin-like growth factor-binding protein 1 (IBP-1) also known as placental protein 12 (PP12) is a protein that in humans is encoded by the IGFBP1 gene.

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene. Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS).

Tribbles homolog 3 is a protein that in humans is encoded by the TRIB3 gene.

Large proline-rich protein BAT2 is a protein that in humans is encoded by the BAT2 gene.

Protein phosphatase 1 regulatory subunit 3A is an enzyme that in humans is encoded by the PPP1R3A gene.

Voltage-gated potassium channel subunit beta-1 is a protein that in humans is encoded by the KCNAB1 gene.

Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) also known as islet cell autoantigen-related protein (ICAAR) and phogrin is an enzyme that in humans is encoded by the PTPRN2 gene. PTPRN and PTPRN2 are both found to be major autoantigens associated with insulin-dependent diabetes mellitus.

Signal recognition particle receptor subunit beta is a protein that in humans is encoded by the SRPRB gene.

cAMP-regulated phosphoprotein 19 is a protein that in humans is encoded by the ARPP19 gene.

Cell death activator CIDE-A is a protein that in humans is encoded by the CIDEA gene. Cidea is an essential transcriptional coactivator regulating mammary gland secretion of milk lipids.

Sirtuin 4, also known as SIRT4, is a mitochondrial protein which in humans is encoded by the SIRT4 gene. SIRT4 is member of the mammalian sirtuin family of proteins, which are homologs to the yeast Sir2 protein. SIRT4 exhibits NAD+-dependent deacetylase activity.

ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene.

Mitogen-activated protein kinase 13, also known as stress-activated protein kinase 4 (SAPK4), is an enzyme that in humans is encoded by the MAPK13 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000143420 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038619 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Heron L, Virsolvy A, Peyrollier K, Gribble FM, Le Cam A, Ashcroft FM, Bataille D (Aug 1998). "Human α-endosulfine, a possible regulator of sulfonylurea-sensitive KATP channel: Molecular cloning, expression and biological properties". Proc Natl Acad Sci U S A. 95 (14): 8387–91. Bibcode:1998PNAS...95.8387H. doi: 10.1073/pnas.95.14.8387 . PMC 20985 . PMID 9653196.
1 2 "Entrez Gene: ENSA endosulfine alpha".

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID 8889548.
Héron L, Virsolvy A, Apiou F, Le Cam A, Bataille D (1999). "Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta-cell K(ATP) channels". Diabetes. 48 (9): 1873–6. doi:10.2337/diabetes.48.9.1873. PMID 10480622.
Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY (2001). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934 . PMID 11042152.
Kim SH, Lubec G (2002). "Decreased alpha-endosulfine, an endogenous regulator of ATP-sensitive potassium channels, in brains from adult Down syndrome patients". Protein Expression in Down Syndrome Brain. pp. 1–9. doi:10.1007/978-3-7091-6262-0_1. ISBN 978-3-211-83704-7. PMID 11771735.{{cite book}}: |journal= ignored (help)
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Bataille D (2003). "Endosulfines: Novel regulators of insulin secretion". Drug News Perspect. 13 (8): 453–62. PMID 12937617.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID 14702039.
Wang H, Craig RL, Schay J, Chu W, Das SK, Zhang Z, Elbein SC (2004). "Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion". Mol. Genet. Metab. 81 (1): 9–15. doi:10.1016/j.ymgme.2003.08.003. PMID 14728986.
Thameem F, Farook VS, Yang X, Lee YH, Permana PA, Bogardus C, Prochazka M (2004). "The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians". Mol. Genet. Metab. 81 (1): 16–21. doi:10.1016/j.ymgme.2003.09.013. PMID 14728987.
Gabrielsson BG, Karlsson AC, Lönn M, Olofsson LE, Johansson JM, Torgerson JS, Sjöström L, Carlsson B, Edén S (2004). "Molecular characterization of a local sulfonylurea system in human adipose tissue". Mol. Cell. Biochem. 258 (1–2): 65–71. doi:10.1023/B:MCBI.0000012837.11847.c8. PMID 15030171. S2CID 22988098.
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID 17081983. S2CID 7827573.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948 . PMID 17353931.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000143420 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038619 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9653196-5] Heron L, Virsolvy A, Peyrollier K, Gribble FM, Le Cam A, Ashcroft FM, Bataille D (Aug 1998). "Human α-endosulfine, a possible regulator of sulfonylurea-sensitive KATP channel: Molecular cloning, expression and biological properties". Proc Natl Acad Sci U S A. 95 (14): 8387–91. Bibcode:1998PNAS...95.8387H. doi: 10.1073/pnas.95.14.8387 . PMC 20985 . PMID 9653196.

[entrez-6] 1 2 "Entrez Gene: ENSA endosulfine alpha".

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ENSA (gene)

Related Research Articles

References

Further reading