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ENSA endosulfine alpha [ Homo sapiens (human) ]

Gene ID: 2029, updated on 5-May-2024

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
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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_000001.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:150550344-150551543 Neighboring gene Sharpr-MPRA regulatory region 9 Neighboring gene uncharacterized LOC107985203 Neighboring gene MCL1 apoptosis regulator, BCL2 family member Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150569961-150570462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150570463-150570962 Neighboring gene uncharacterized LOC124900445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150577106-150577944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150580942-150581628 Neighboring gene Sharpr-MPRA regulatory region 10549 Neighboring gene Sharpr-MPRA regulatory region 6366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150598651-150599182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150601815-150602782 Neighboring gene uncharacterized LOC112268239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150602783-150603752 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:150606865-150607490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150607491-150608116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608117-150608742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608743-150609367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150610512-150611128 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150613593-150614208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150619341-150619842 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC4319, MGC8394, MGC78563

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
 

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

  1. NG_029499.1 RefSeqGene

    Range
    5011..12498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004436.4NP_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:3386
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  2. NM_207042.2NP_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:33121
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  3. NM_207043.2NP_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:33121
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  4. NM_207044.2NP_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:3386
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  5. NM_207045.2NP_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:29117
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  6. NM_207046.2NP_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:29104
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  7. NM_207047.2NP_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:29104
    Endosulfine; cAMP-regulated phosphoprotein/endosulfine conserved region
  8. NM_207168.2NP_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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    150621246..150629612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149745280..149753646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)