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 contr... See more...

Aliases for ENSA Gene

Aliases for ENSA Gene

  • Endosulfine Alpha 2 3 5
  • Alpha-Endosulfine 3 4
  • ARPP-19e 3 4

External Ids for ENSA Gene

Previous GeneCards Identifiers for ENSA Gene

  • GC01M148437
  • GC01M146342
  • GC01M147368
  • GC01M147811
  • GC01M147408
  • GC01M148840
  • GC01M148861
  • GC01M150574
  • GC01M121972
  • GC01M150577
  • GC01M150595
  • GC01M150601
  • GC01M150635
  • GC01M150640
  • GC01M150644
  • GC01M150606
  • GC01M150611
  • GC01M150614
  • GC01M150617
  • GC01M150621
  • GC01M150624
  • GC01M150629
  • GC01M150632

Summaries for ENSA Gene

Entrez Gene Summary for ENSA Gene

  • 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]

GeneCards Summary for ENSA Gene

ENSA (Endosulfine Alpha) is a Protein Coding gene. Diseases associated with ENSA include Type 1 Diabetes Mellitus 11. Among its related pathways are DNA Damage and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is ARPP19.

UniProtKB/Swiss-Prot Summary for ENSA Gene

  • 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.

Gene Wiki entry for ENSA Gene

Additional gene information for ENSA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENSA Gene

Genomics for ENSA Gene

GeneHancer (GH) Regulatory Elements for ENSA Gene

Promoters and enhancers for ENSA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENSA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENSA

Top Transcription factor binding sites by QIAGEN in the ENSA gene promoter:
  • AML1a
  • CP2
  • Evi-1
  • HOXA9
  • HOXA9B
  • p53

Genomic Locations for ENSA Gene

Genomic Locations for ENSA Gene
chr1:150,600,851-150,629,622
(GRCh38/hg38)
Size:
28,772 bases
Orientation:
Minus strand
chr1:150,573,327-150,602,098
(GRCh37/hg19)
Size:
28,772 bases
Orientation:
Minus strand

Genomic View for ENSA Gene

Genes around ENSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENSA Gene

Proteins for ENSA Gene

  • Protein details for ENSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43768-ENSA_HUMAN
    Recommended name:
    Alpha-endosulfine
    Protein Accession:
    O43768
    Secondary Accessions:
    • A8K1Z9
    • E9PB69
    • Q5T5H2
    • Q68D48
    • Q6FHW0
    • Q6IAM4
    • Q6NUL2
    • Q6VUC6
    • Q6VUC7
    • Q6VUC8
    • Q6VUC9
    • Q6VUD0
    • Q6VUD1
    • Q9NRZ0

    Protein attributes for ENSA Gene

    Size:
    121 amino acids
    Molecular mass:
    13389 Da
    Quaternary structure:
    • Interacts (when phosphorylated at Ser-67) with PPP2R2D (By similarity). Interacts with ABCC8. Interacts with SNCA; interaction is disrupted when phosphorylated at Ser-109.

    Alternative splice isoforms for ENSA Gene

neXtProt entry for ENSA Gene

Post-translational modifications for ENSA Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ENSA Gene

Domains & Families for ENSA Gene

Gene Families for ENSA Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ENSA Gene

Blocks:
  • cAMP-regulated phosphoprotein/endosulfine conserved region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENSA Gene

GenScript: Design optimal peptide antigens:
  • ARPP-19e (ENSA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43768

UniProtKB/Swiss-Prot:

ENSA_HUMAN :
  • Belongs to the endosulfine family.
Family:
  • Belongs to the endosulfine family.
genes like me logo Genes that share domains with ENSA: view

Function for ENSA Gene

Molecular function for ENSA Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
alpha endosulfine,endogenous regulator of the beta-cell K (ATP) channel,inhibiting sulfonylurea binding to beta cell membranes and stimulating insulin secretion

Phenotypes From GWAS Catalog for ENSA Gene

Gene Ontology (GO) - Molecular Function for ENSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IBA 21873635
GO:0005102 signaling receptor binding IDA 9653196
GO:0005515 protein binding IPI 21044950
GO:0008200 ion channel inhibitor activity TAS 9653196
GO:0019212 phosphatase inhibitor activity ISS --
genes like me logo Genes that share ontologies with ENSA: view
genes like me logo Genes that share phenotypes with ENSA: view

Animal Models for ENSA Gene

MGI Knock Outs for ENSA:
  • Ensa Ensa<tm1a(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ENSA

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENSA Gene

Localization for ENSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENSA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENSA gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
extracellular 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with ENSA: view

Pathways & Interactions for ENSA Gene

PathCards logo

SuperPathways for ENSA Gene

genes like me logo Genes that share pathways with ENSA: view

Pathways by source for ENSA Gene

1 Cell Signaling Technology pathway for ENSA Gene

SIGNOR curated interactions for ENSA Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ENSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0000278 mitotic cell cycle ISS --
GO:0007049 cell cycle IEA --
GO:0007584 response to nutrient TAS 9653196
GO:0009749 response to glucose IEA --
genes like me logo Genes that share ontologies with ENSA: view

Drugs & Compounds for ENSA Gene

No Compound Related Data Available

Transcripts for ENSA Gene

mRNA/cDNA for ENSA Gene

8 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENSA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c · 6d
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - -
SP6: - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - -
SP11: - - - -
SP12: - - -

Relevant External Links for ENSA Gene

GeneLoc Exon Structure for
ENSA

Expression for ENSA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENSA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ENSA Gene

This gene is overexpressed in Lavage (23.6) and Nasal epithelium (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENSA Gene



Protein tissue co-expression partners for ENSA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENSA

SOURCE GeneReport for Unigene cluster for ENSA Gene:

Hs.632456

mRNA Expression by UniProt/SwissProt for ENSA Gene:

O43768-ENSA_HUMAN
Tissue specificity: Widely expressed with high levels in skeletal muscle and brain and lower levels in the pancreas.

Evidence on tissue expression from TISSUES for ENSA Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Liver(4.3)
  • Eye(3)
  • Pancreas(3)
  • Intestine(2.5)
  • Muscle(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ENSA: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSA Gene

Orthologs for ENSA Gene

This gene was present in the common ancestor of animals.

Orthologs for ENSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENSA 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENSA 31 30
  • 97.72 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENSA 31
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ensa 17 31 30
  • 96.01 (n)
cow
(Bos Taurus)
Mammalia ENSA 31 30
  • 96.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ensa 30
  • 95.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENSA 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENSA 31 30
  • 80.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENSA 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ensa 30
  • 78.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68564 30
zebrafish
(Danio rerio)
Actinopterygii ensab 31 30
  • 73.51 (n)
OneToMany
ensaa 31
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta endos 31
  • 48 (a)
OneToMany
Species where no ortholog for ENSA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENSA Gene

ENSEMBL:
Gene Tree for ENSA (if available)
TreeFam:
Gene Tree for ENSA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENSA: view image

Paralogs for ENSA Gene

Paralogs for ENSA Gene

(14) SIMAP similar genes for ENSA Gene using alignment to 4 proteins:

  • ENSA_HUMAN
  • A6NMQ3_HUMAN
  • C9JUF4_HUMAN
  • Q5T5H1_HUMAN

Pseudogenes.org Pseudogenes for ENSA Gene

genes like me logo Genes that share paralogs with ENSA: view

Variants for ENSA Gene

Additional dbSNP identifiers (rs#s) for ENSA Gene

Structural Variations from Database of Genomic Variants (DGV) for ENSA Gene

Variant ID Type Subtype PubMed ID
esv24209 CNV loss 19812545
nsv1006838 CNV gain 25217958

Variation tolerance for ENSA Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENSA Gene

Human Gene Mutation Database (HGMD)
ENSA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENSA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENSA Gene

Disorders for ENSA Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENSA Gene - From: DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 11
  • diabetes mellitus, insulin-dependent, 11
- elite association - COSMIC cancer census association via MalaCards
Search ENSA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENSA

genes like me logo Genes that share disorders with ENSA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENSA Gene

Publications for ENSA Gene

  1. The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. (PMID: 14728987) Thameem F … Prochazka M (Molecular genetics and metabolism 2004) 3 4 23 54
  2. Isolation, characterization, and chromosomal localization of the human ENSA gene that encodes alpha-endosulfine, a regulator of beta-cell K(ATP) channels. (PMID: 10480622) Héron L … Bataille D (Diabetes 1999) 3 4 23 54
  3. Human alpha-endosulfine, a possible regulator of sulfonylurea-sensitive KATP channel: molecular cloning, expression and biological properties. (PMID: 9653196) Heron L … Bataille D (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
  4. Membrane-induced folding of the cAMP-regulated phosphoprotein endosulfine-alpha. (PMID: 18973346) Boettcher JM … Rienstra CM (Biochemistry 2008) 3 4 54
  5. Conformation-specific binding of alpha-synuclein to novel protein partners detected by phage display and NMR spectroscopy. (PMID: 17893145) Woods WS … George JM (The Journal of biological chemistry 2007) 3 4 54

Products for ENSA Gene

Sources for ENSA Gene