Abcc8 ATP binding cassette subfamily C member 8 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Abcc8provided by RGD
Official Full Name: ATP binding cassette subfamily C member 8provided by RGD
Primary source: RGD:3786
See related: Ensembl:ENSRNOG00000021130 AllianceGenome:RGD:3786
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Sur; Sur1
Summary: Predicted to enable ATPase-coupled cation transmembrane transporter activity; potassium channel activity; and transmembrane transporter binding activity. 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 sarcolemma and synaptic vesicle membrane. Part of inward rectifying potassium channel. Colocalizes with mitochondrion. Used to study brain edema; cardiac arrest; hypoglycemia; and middle cerebral artery infarction. Biomarker of Parkinsonism; sciatic neuropathy; status epilepticus; and visual epilepsy. 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 Heart (RPKM 53.0), Brain (RPKM 31.7) and 4 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q22

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (105734992..105816272, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (96598568..96679563, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (102110708..102191287, complement)

Chromosome 1 - NC_086019.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our findings suggest that the NF-kappaB, p38 MAPK, and PKC signal pathways are partially involved in the upregulation of KATP subunits Kir6.2/SUR1 expression induced by Abeta1-42 cytotoxicity in neurons, which supports a potential theoretical basis of targeting these signal pathways in the treatment of Alzheimer's disease.
Title: Aβ1-42 increases the expression of neural KATP subunits Kir6.2/SUR1 via the NF-κB, p38 MAPK and PKC signal pathways in rat primary cholinergic neurons.
Intricate interactions between TMD0, the loop following TMD0, and Kir6.2 near the proposed PIP2 binding site, and where ATP density is observed, suggest SUR1 may contribute to ATP and PIP2 binding to enhance Kir6.2 sensitivity to both.
Title: Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating.
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.
these data suggest an important role for the Sur1-Trpm4 channel in the pathophysiology of postischemic cell death
Title: Sur1-Trpm4 Cation Channel Expression in Human Cerebral Infarcts.
Results indicate that ghrelin inhibits matrix metalloprotease-9, sulfonylurea receptor 1 and transient receptor potential melastatin 4 expressions, thereby reducing blood spinal cord barrier permeability and hemorrhage after spinal cord injury.
Title: Ghrelin inhibits BSCB disruption/hemorrhage by attenuating MMP-9 and SUR1/TrpM4 expression and activation after spinal cord injury.
PIP2 affects islet beta-cell KATP channels not only by its actions on Kir6.2 but also by sequestering Syn-1A to modulate Syn-1A availability and its interactions with SUR1 on PM.
Title: Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic β-cell ATP-sensitive potassium channels.
Results demonstrate differential and highly localized expression pattern of sulphonylurea receptor proteins SUR2A and 2B (SUR1) in rat kidney.
Title: Localization of sulphonylurea receptor proteins SUR2A and SUR2B and/or SUR1 in rat kidney.
Estradiol significantly upregulates the expression of KATP channel subunits and SUR1 channel activity in the brain cortices of ovariectomized rats.
Title: Neuroprotective effects of 17β-estradiol associate with KATP in rat brain.
A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening
Title: A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.
Experiments with FRET and co-immunoprecipitation showed de novo appearance of Sur1-Trpm4 heteromers after spinal cord injury in rats.
Title: The sulfonylurea receptor 1 (Sur1)-transient receptor potential melastatin 4 (Trpm4) channel.

Submit: New GeneRIF Correction See all GeneRIFs (37)

General gene information

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Markers

D1Rat379 (e-PCR), detects polymorphism
- UniSTS:227164

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

BE110066 (e-PCR)
- UniSTS:245174

BF388506 (e-PCR)
- UniSTS:244972

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
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 potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables sulfonylurea receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to nutrient levels	ISO Inferred from Sequence Orthology more info
involved_in cellular response to organic substance	IDA Inferred from Direct Assay more info	PubMed
involved_in female pregnancy	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within glutamate secretion, neurotransmission	ISO Inferred from Sequence Orthology more info
involved_in intracellular glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of blood-brain barrier permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of glial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin secretion	IDA Inferred from Direct Assay 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tight junction disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of uterine smooth muscle relaxation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to pH	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to zinc ion	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of inward rectifying potassium channel	IDA Inferred from Direct Assay more info	PubMed
part_of inward rectifying potassium channel	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of potassium ion-transporting ATPase complex	RCA inferred from Reviewed Computational Analysis more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: ATP-binding cassette transporter sub-family C member 8; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; ATP-binding cassette, subfamily C (CFTR/MRP), member 8; sulfonylurea receptor 1; sulphonylurea receptor 1

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_001412033.1 → NP_001398962.1 ATP-binding cassette sub-family C member 8 isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

Q70X90
NM_001412034.1 → NP_001398963.1 ATP-binding cassette sub-family C member 8 isoform 3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

Related

ENSRNOP00000035010.4, ENSRNOT00000038798.5
NM_013039.3 → NP_037171.2 ATP-binding cassette sub-family C member 8 isoform 1

See identical proteins and their annotated locations for NP_037171.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/Swiss-Prot

O54989, P70532, Q09429, Q9EQT0

UniProtKB/TrEMBL

Q70X89

Related

ENSRNOP00000028696.6, ENSRNOT00000028696.8

Conserved Domains (4) summary

cd03288
Location:1343 → 1582

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

TIGR01271
Location:223 → 1582

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:1017 → 1295

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:679 → 907

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

105734992..105816272 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_008759320.3 → XP_008757542.1 ATP-binding cassette sub-family C member 8 isoform X1

UniProtKB/TrEMBL

Q70X89

Conserved Domains (4) summary

cd03288
Location:1342 → 1581

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

TIGR01271
Location:223 → 1581

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:1016 → 1294

ABC_membrane; ABC transporter transmembrane region

cl21455
Location:679 → 906

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_063281905.1 → XP_063137975.1 ATP-binding cassette sub-family C member 8 isoform X3
XM_063281903.1 → XP_063137973.1 ATP-binding cassette sub-family C member 8 isoform X2
XM_039101882.2 → XP_038957810.1 ATP-binding cassette sub-family C member 8 isoform X4

UniProtKB/TrEMBL

A6JBB4

Conserved Domains (2) summary

cd18591
Location:301 → 610

ABC_6TM_SUR1_D1_like; Six-transmembrane helical domain 1 (TMD1) of the sulphonylurea receptors SUR1/2

cl38936
Location:679 → 907

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases