Abcc8 ATP-binding cassette, sub-family C member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcc8provided by MGI
Official Full Name: ATP-binding cassette, sub-family C member 8provided by MGI
Primary source: MGI:MGI:1352629
See related: Ensembl:ENSMUSG00000040136 AllianceGenome:MGI:1352629
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sur; SUR1; D930031B21Rik
Summary: Predicted to enable ATPase-coupled cation transmembrane transporter activity; potassium channel activity; and transmembrane transporter binding activity. Predicted to be involved in several processes, including learning or memory; negative regulation of blood-brain barrier permeability; and negative regulation of low-density lipoprotein particle clearance. Located in plasma membrane. Is expressed in cerebral cortex; foregut-midgut junction; heart ventricle; and retina inner nuclear layer. Used to study hyperinsulinemic hypoglycemia and transient neonatal diabetes mellitus. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 1; glucose metabolism disease (multiple); hypertension; and leucine-sensitive hypoglycemia of infancy. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 8.6), heart adult (RPKM 8.3) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.66 cM

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45753952..45829441, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46104523..46180039, complement)

Chromosome 7 - NC_000073.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abcc8 (sulfonylurea receptor-1) knockout mice exhibit reduced axonal injury, cytotoxic edema and cognitive dysfunction vs. wild-type in a cecal ligation and puncture model of sepsis.
Title: Abcc8 (sulfonylurea receptor-1) knockout mice exhibit reduced axonal injury, cytotoxic edema and cognitive dysfunction vs. wild-type in a cecal ligation and puncture model of sepsis.
Role of upregulation of the KATP channel subunit SUR1 in dopaminergic neuron degeneration in Parkinson's disease.
Title: Role of upregulation of the K(ATP) channel subunit SUR1 in dopaminergic neuron degeneration in Parkinson's disease.
Loss of SUR1 subtype KATP channels alters antinociception and locomotor activity after opioid administration.
Title: Loss of SUR1 subtype K(ATP) channels alters antinociception and locomotor activity after opioid administration.
SUR1-E1506K mutation impairs glucose tolerance and promotes vulnerable atherosclerotic plaque phenotype in hypercholesterolemic mice.
Title: SUR1-E1506K mutation impairs glucose tolerance and promotes vulnerable atherosclerotic plaque phenotype in hypercholesterolemic mice.
Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.
Title: Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.
The findings of this study demonstrated a novel molecular mechanism involving the SUR1-TRPM4-AQP4 complex to account for bulk water influx during astrocyte swelling
Title: SUR1-TRPM4 and AQP4 form a heteromultimeric complex that amplifies ion/water osmotic coupling and drives astrocyte swelling.
Despite its importance in central nervous system (CNS) injuries, sulfonylurea receptor 1 (SUR1) upregulation appears to play no part in rodent anterior ischemic optic neuropathy (rAION) injury.
Title: SUR1-Associated Mechanisms Are Not Involved in Ischemic Optic Neuropathy 1 Day Post-Injury.
study provides evidence for a role of Abcc8(ATP-binding cassette sub-family C) in early-phase glucose-mediated insulin secretion and validates this gene as a contributor to beta-cell dysfunction in type 2 diabetes
Title: Identification of ABCC8 as a contributory gene to impaired early-phase insulin secretion in NZO mice.
We conclude that the gradual development of glucose intolerance in patients with the SUR1-E1506K mutation might, as in the mouse model, result from impaired insulin secretion due a failure of insulin content to increase with age.
Title: A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.
The results confirm that Kir6.2 contributes to APD shortening in both atria and ventricle during metabolic stress, and that SUR1 is required for atrial APD shortening while SUR2A is required for ventricular APD shortening.
Title: Functional roles of KATP channel subunits in metabolic inhibition.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Abcc8 (e-PCR), detects polymorphism
- UniSTS:144525

Abcc8 (e-PCR), detects polymorphism
- UniSTS:525474

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to nutrient levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to organic substance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glutamate secretion, neurotransmission	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in memory	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood-brain barrier permeability	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of low-density lipoprotein particle clearance	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuroblast migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neurogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tight junction disassembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of uterine smooth muscle relaxation	ISO Inferred from Sequence Orthology more info
involved_in response to pH	ISO Inferred from Sequence Orthology more info
involved_in response to zinc ion	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of inward rectifying potassium channel	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 8

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 8; sulfonylurea receptor

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.

mRNA and Protein(s)

NM_001357538.2 → NP_001344467.1 ATP-binding cassette sub-family C member 8 isoform 2

Status: VALIDATED

Source sequence(s)

AC115036, AC120135

Conserved Domains (1) summary

cl26602
Location:224 → 1578

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
NM_001403104.1 → NP_001390033.1 ATP-binding cassette sub-family C member 8 isoform 3

Status: VALIDATED

Source sequence(s)

AC115036, AC120135
NM_001403109.1 → NP_001390038.1 ATP-binding cassette sub-family C member 8 isoform 4

Status: VALIDATED

Source sequence(s)

AC120135

Related

ENSMUST00000210986.2
NM_001403110.1 → NP_001390039.1 ATP-binding cassette sub-family C member 8 isoform 5

Status: VALIDATED

Source sequence(s)

AC115036, AC120135
NM_011510.4 → NP_035640.2 ATP-binding cassette sub-family C member 8 isoform 1

See identical proteins and their annotated locations for NP_035640.2

Status: VALIDATED

Source sequence(s)

AC115036, AC120135

Consensus CDS

CCDS21275.1

UniProtKB/TrEMBL

B2RUS7

Related

ENSMUSP00000033123.7, ENSMUST00000033123.8

Conserved Domains (4) summary

cd03288
Location:1349 → 1588

ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR

TIGR01271
Location:223 → 1588

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:1030 → 1301

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:679 → 913

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

45753952..45829441 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152860.1 → XP_036008753.1 ATP-binding cassette sub-family C member 8 isoform X1

Conserved Domains (1) summary

TIGR00957
Location:224 → 1594

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_030242316.2 → XP_030098176.1 ATP-binding cassette sub-family C member 8 isoform X3

Conserved Domains (1) summary

TIGR00957
Location:224 → 1340

MRP_assoc_pro; multi drug resistance-associated protein (MRP)