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ENSA Gene(Protein Coding)

Endosulfine Alpha

GCID:
GC01M150624
GIFtS:
49
Genes Participants
UDN Logo

Aliases for ENSA Gene

Aliases for ENSA Gene

  • Endosulfine Alpha 2 3 5
  • ARPP-19e 3 4
  • Endosulfine-Alpha Variant 1 3
  • Endosulfine-Alpha Variant 3 3
  • Alpha-Endosulfine 3

External Ids for ENSA Gene

Previous GeneCards Identifiers for ENSA Gene

  • GC01M148437
  • GC01M146342
  • GC01M147368
  • GC01M147811
  • GC01M147408
  • GC01M148840
  • GC01M148861
  • GC01M150574
  • GC01M121972
  • GC01M150577
  • GC01M150595
  • GC01M150601
  • GC01M150606
  • GC01M150611
  • GC01M150614
  • GC01M150617
  • GC01M150621

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 Mitotic Prophase and DNA Damage. Gene Ontology (GO) annotations related to this gene include receptor binding. An important paralog of this gene is ARPP19.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ENSA Gene

Genomics for ENSA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ENSA Gene

Promoters and enhancers for ENSA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I150626 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.3 251 4.9 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 GC01P150630 ENSA SETDB1 PIP5K1A HORMAD1 ARNT PRPF3 RPRD2 UBE2D3P3 SF3B4
GH01I150557 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 12.2 +60.3 60318 23.1 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC RN7SL600P MCL1 GOLPH3L SETDB1 HORMAD1 PRPF3 PIP5K1A PI4KB SF3B4 ARNT
GH01I150595 Enhancer 0.8 Ensembl ENCODE dbSUPER 12.6 +33.0 33043 1.3 SOX13 KDM1A ZBTB12 ENSA RPS27AP6 ARNT ENSG00000253047 MCL1
GH01I150667 Enhancer 0.8 ENCODE 10.5 -38.3 -38313 1.7 FOXA2 ARID4B FEZF1 RAD21 RARA SLC30A9 ZNF335 THAP11 MIXL1 RXRA HORMAD1 ARNT RNU6-1042P GOLPH3L ENSA UBE2D3P3 CTSK ADAMTSL4-AS1 LOC100289061 ADAMTSL4
GH01I150649 Enhancer 0.7 ENCODE 11.2 -20.4 -20386 1.6 ESRRA NFIB NEUROD1 SIN3A BMI1 ZIC2 RFX5 E2F1 CTBP1 GATA3 HORMAD1 GOLPH3L RNU6-1042P ENSA CTSK ARNT RPS27AP6 ADAMTSL4-AS1 LOC100289061 ADAMTSL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENSA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENSA gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for ENSA Gene

Proteins for ENSA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ENSA Gene

Protein Expression for ENSA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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.

Other Protein References for ENSA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENSA (ENSA)
  • Abcam antibodies for ENSA
  • Santa Cruz Biotechnology (SCBT) Antibodies for ENSA

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ENSA Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ENSA Gene

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

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 --
GO:0005102 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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
cytosol 3
cytoskeleton 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoli (2)
  • Nucleus (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 --
genes like me logo Genes that share ontologies with ENSA: view

Pathways & Interactions 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

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:0006810 transport TAS 9653196
GO:0007049 cell cycle IEA --
GO:0007584 response to nutrient TAS 9653196
genes like me logo Genes that share ontologies with ENSA: view

No data available for SIGNOR curated interactions for ENSA Gene

Drugs & Compounds for ENSA Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ENSA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ENSA Gene

(8) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(766) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENSA Gene

Endosulfine alpha:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ENSA

Expression for ENSA Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ENSA Gene
mRNA expression by GTEx for ENSA GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for ENSA Gene



Protein tissue co-expression partners for ENSA Gene

NURSA nuclear receptor signaling pathways regulating expression of ENSA Gene:

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 33 34
  • 99.43 (n)
dog
(Canis familiaris)
 Mammalia ENSA 33 34
  • 97.72 (n)
oppossum
(Monodelphis domestica)
 Mammalia ENSA 34
  • 97 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ENSA 33 34
  • 96.01 (n)
mouse
(Mus musculus)
 Mammalia Ensa 33 16 34
  • 96.01 (n)
rat
(Rattus norvegicus)
 Mammalia Ensa 33
  • 95.16 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ENSA 34
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ENSA 33 34
  • 80.69 (n)
lizard
(Anolis carolinensis)
 Reptilia ENSA 34
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ensa 33
  • 78.35 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68564 33
zebrafish
(Danio rerio)
 Actinopterygii ensab 33 34
  • 73.51 (n)
ensaa 34
  • 63 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta endos 34
  • 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)

Paralogs for ENSA Gene

Paralogs for ENSA Gene

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

Pseudogenes.org Pseudogenes for ENSA Gene

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

Variants for ENSA Gene

Sequence variations from dbSNP and Humsavar for ENSA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000223236 -- 150,630,035(-) G/C upstream_transcript_variant
rs1000836365 -- 150,629,556(-) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001396202 -- 150,622,307(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001562095 -- 150,626,707(-) CC/CCCC downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1001779737 -- 150,629,829(-) C/G upstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENSA Gene

Disorders for ENSA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 11
  • iddm11
- 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

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 22 58
  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 58
  4. Membrane-induced folding of the cAMP-regulated phosphoprotein endosulfine-alpha. (PMID: 18973346) Boettcher JM … Rienstra CM (Biochemistry 2008) 3 4 58
  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 58

Products for ENSA Gene

Sources for ENSA Gene

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