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ENSA endosulfine alpha [ Homo sapiens (human) ]

Gene ID: 2029, updated on 5-Aug-2018

Summary

Official Symbol
ENSAprovided by HGNC
Official Full Name
endosulfine alphaprovided by HGNC
Primary source
HGNC:HGNC:3360
See related
Ensembl:ENSG00000143420 MIM:603061; Vega:OTTHUMG00000035004
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

Genomic context

See ENSA in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (150622123..150629622, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150594599..150602098, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene uncharacterized LOC107985203 Neighboring gene MCL1, BCL2 family apoptosis regulator Neighboring gene uncharacterized LOC112268239 Neighboring gene golgi phosphoprotein 3 like

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • MASTL Facilitates Mitotic Progression, organism-specific biosystem (from REACTOME)
    MASTL Facilitates Mitotic Progression, organism-specific biosystemThe activity of MASTL, also known as the Greatwall kinase (GWL), is necessary for the entry and progression of mitosis. MASTL is activated by phosphorylation of several key residues during mitotic en...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4319, MGC8394, MGC78563

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
alpha-endosulfine
Names
endosulfine-alpha variant 1
endosulfine-alpha variant 2
endosulfine-alpha variant 3
endosulfine-alpha variant 4
endosulfine-alpha variant 5
endosulfine-alpha variant 6

NCBI Reference Sequences (RefSeq)

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
    5001..12500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004436.2NP_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, BM984677
    Consensus CDS
    CCDS958.1
    UniProtKB/Swiss-Prot
    O43768
    Related
    ENSP00000358010.5, OTTHUMP00000032931, ENST00000369014.9, OTTHUMT00000084720
    Conserved Domains (1) summary
    pfam04667
    Location:33108
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  2. NM_207042.1NP_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)
    AL711949, BC004461, BM984677, BU858280
    Consensus CDS
    CCDS959.1
    UniProtKB/Swiss-Prot
    O43768
    Related
    ENSP00000341743.5, OTTHUMP00000034004, ENST00000339643.9, OTTHUMT00000087247
    Conserved Domains (1) summary
    pfam04667
    Location:33121
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  3. NM_207043.1NP_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/Swiss-Prot
    O43768
    Related
    ENSP00000424242.1, OTTHUMP00000218272, ENST00000503241.1, OTTHUMT00000360724
    Conserved Domains (1) summary
    pfam04667
    Location:33121
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  4. NM_207044.1NP_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/Swiss-Prot
    O43768
    Related
    ENSP00000271690.7, OTTHUMP00000032932, ENST00000271690.12, OTTHUMT00000084721
    Conserved Domains (1) summary
    pfam04667
    Location:33108
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  5. NM_207045.1NP_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, BE799496, BM984677, BU858280, T78564
    Consensus CDS
    CCDS960.1
    UniProtKB/Swiss-Prot
    O43768
    Related
    ENSP00000355239.5, OTTHUMP00000034003, ENST00000361631.9, OTTHUMT00000087246
    Conserved Domains (1) summary
    pfam04667
    Location:29117
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  6. NM_207046.1NP_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)
    BC004461, BE799496, BM984677, T78564
    Consensus CDS
    CCDS961.1
    UniProtKB/Swiss-Prot
    O43768
    Related
    ENSP00000354835.5, OTTHUMP00000034006, ENST00000361532.9, OTTHUMT00000087249
    Conserved Domains (1) summary
    pfam04667
    Location:29104
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  7. NM_207047.1NP_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, AW409955, BE799496, BM771663, BQ005654, BQ883543, CB243574, T78564
    Consensus CDS
    CCDS964.1
    UniProtKB/Swiss-Prot
    O43768
    Related
    ENSP00000422343.1, OTTHUMP00000034005, ENST00000513281.5, OTTHUMT00000087248
    Conserved Domains (1) summary
    pfam04667
    Location:29104
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  8. NM_207168.1NP_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, OTTHUMP00000034001, ENST00000362052.7, OTTHUMT00000087244

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    150622123..150629622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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