ENSA endosulfine alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENSAprovided by HGNC
Official Full Name: endosulfine alphaprovided by HGNC
Primary source: HGNC:HGNC:3360
See related: Ensembl:ENSG00000143420 MIM:603061; AllianceGenome:HGNC:3360
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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (150621246..150629612, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149745280..149753646, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (150593722..150602088, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A.
Title: Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A.
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
Title: Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin.
Title: Ensa controls S-phase length by modulating Treslin levels.
Taken together our results suggest a hierarchy of phosphatases coordinating Greatwall, Ensa/ARPP19 and Cdk substrate dephosphorylation during mitotic exit.
Title: PP2A/B55 and Fcp1 regulate Greatwall and Ensa dephosphorylation during mitotic exit.
Overexpressed ENSA suppresses tumor growth in an established hepatic cell line whereas hypermethylated ENSA might help maintain liver cancer initiating cells.
Title: ENSA expression correlates with attenuated tumor propagation in liver cancer.
The considerably decreased alpha-endosulfine could result in the continuous opening of K(ATP) channels and the subsequent decrease of neurotransmitters release associated with cognition in Down Syndrome.
Title: Decreased alpha-endosulfine, an endogenous regulator of ATP-sensitive potassium channels, in brains from adult Down syndrome patients.
The ENSA gene on 1q21 produces several alternatively spliced transcripts, and is located within a region linked with T2DM in diverse populations including the Pima Indians
Title: The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians.
We mapped ENSA in silico to chromosome 1q21 near a confirmed type 2 diabetes susceptibility locus, and derived the genomic structure of four exons and three introns.
Title: Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145179 (e-PCR)
- UniSTS:182791

SHGC-154616 (e-PCR)
- UniSTS:182032

STS-N93765 (e-PCR)
- UniSTS:74021

D1S330E (e-PCR)
- UniSTS:45140

D14S1345 (e-PCR)
- UniSTS:67714

SHGC-141968 (e-PCR)
- UniSTS:171166

D1S330E (e-PCR)
- UniSTS:473006

RH44475 (e-PCR)
- UniSTS:92334

RH98502 (e-PCR)
- UniSTS:83915

RH79733 (e-PCR)
- UniSTS:86763

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ion channel inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables phosphatase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2A binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein phosphatase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G2/M transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nutrient	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alpha-endosulfine

NCBI Reference Sequences (RefSeq)

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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

NG_029499.1 RefSeqGene

Range

5011..12498

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004436.4 → NP_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

Consensus CDS

CCDS958.1

UniProtKB/Swiss-Prot

A8K1Z9, E9PB69, O43768, Q5T5H2, Q68D48, Q6FHW0, Q6IAM4, Q6NUL2, Q6VUC6, Q6VUC7, Q6VUC8, Q6VUC9, Q6VUD0, Q6VUD1, Q9NRZ0

UniProtKB/TrEMBL

A0A1W2PRU0

Related

ENSP00000358010.6, ENST00000369014.10

Conserved Domains (1) summary

pfam04667
Location:33 → 86

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207042.2 → NP_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)

AL356356, AL711949, BC004461, BM984677, BU858280

Consensus CDS

CCDS959.1

UniProtKB/TrEMBL

A0A1W2PRU0

Related

ENSP00000341743.5, ENST00000339643.9

Conserved Domains (1) summary

pfam04667
Location:33 → 121

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207043.2 → NP_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/TrEMBL

A0A1W2PRU0

Related

ENSP00000424242.1, ENST00000503241.1

Conserved Domains (1) summary

pfam04667
Location:33 → 121

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207044.2 → NP_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/TrEMBL

A0A1W2PRU0

Related

ENSP00000271690.7, ENST00000271690.12

Conserved Domains (1) summary

pfam04667
Location:33 → 86

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207045.2 → NP_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, AL356356, BE799496, BM984677, BU858280, T78564

Consensus CDS

CCDS960.1

UniProtKB/Swiss-Prot

O43768

Related

ENSP00000355239.5, ENST00000361631.9

Conserved Domains (1) summary

pfam04667
Location:29 → 117

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207046.2 → NP_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)

AL356356, BC004461, BE799496, BM984677, T78564

Consensus CDS

CCDS961.1

UniProtKB/TrEMBL

A0A1W2PRU0

Related

ENSP00000354835.5, ENST00000361532.9

Conserved Domains (1) summary

pfam04667
Location:29 → 104

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207047.2 → NP_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, AL356356, AW409955, BE799496, BM771663, BQ005654, BQ883543, CB243574, T78564

Consensus CDS

CCDS964.1

UniProtKB/TrEMBL

A0A1W2PRU0

Related

ENSP00000422343.1, ENST00000513281.5

Conserved Domains (1) summary

pfam04667
Location:29 → 104

Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
NM_207168.2 → NP_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, ENST00000362052.7