Abcc8
Gene Detail

Symbol Name ID

Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 MGI:1352629

Synonyms

D930031B21Rik, Sur, SUR1

Feature Type

protein coding gene

Genetic Map

Chromosome 7

29.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr7:46104523-46180033 bp, - strand From NCBI annotation of GRCm38   75511 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:68048  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Abcc8

Human homologs

Human Homolog		ABCC8, ATP-binding cassette, sub-family C (CFTR/MRP), member 8
NCBI Gene ID		6833
neXtProt AC		NX_Q09428
Human Synonyms		ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
Human Chr (Location)		11p15.1; chr11:17414432-17498449 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human ABCC8

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.

 
Human Diseases Modeled Using Mouse Abcc8 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (15 annotations)

Process	negative regulation of insulin secretion, positive regulation of potassium ion transport, ...
Component	plasma membrane, sarcolemma, ...
Function	ATP binding, ion channel binding, ...

External Resources: FuncBase

Expression

Literature Summary: (9 records)
Data Summary: Results (125)    Tissues (105)    Images (16)
Theiler Stages: 19, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	116
RT-PCR	9

cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(27) Genomic(3) cDNA(21) Primer pair(3)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000040136 (Evidence)
Entrez Gene	20927 (Evidence)
UniGene	259076
DFCI	TC1580983, TC1610533, TC1628439
DoTS	DT.523419, DT.87048078, DT.91370470, DT.94148521
NIA Mouse Gene Index	U028551
Consensus CDS Project	CCDS21275.1
International Mouse Knockout Project Status	Abcc8

Sequences

Length	Strain/Species
genomic	20927	NCBI Gene Model | MGI Sequence Detail	75511	C57BL/6J
transcript	NM_011510	RefSeq | MGI Sequence Detail	4952	C57BL/6
polypeptide	NP_035640	RefSeq | MGI Sequence Detail	1588	C57BL/6

All sequences(50) RefSeq(2) UniProt(5)

Polymorphisms

PCR(1) : SNPs(603 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR017940	ABC transporter, integral membrane type 1
InterPro	IPR003439	ABC transporter-like
InterPro	IPR001140	ABC transporter, transmembrane domain
InterPro	IPR011527	ABC transporter, transmembrane domain, type 1
InterPro	IPR000388	Sulphonylurea receptor
InterPro	IPR000844	Sulphonylurea receptor, type 1
Protein Ontology	PR:000003563	ATP-binding cassette transporter sub-family C member 8

References

(Earliest) J:39110 Aguilar-Bryan L, et al., Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion [see comments]. Science. 1995 Apr 21;268(5209):423-6
(Latest) J:191514 Su Y, et al., Hypothalamic leucine metabolism regulates liver glucose production. Diabetes. 2012 Jan;61(1):85-93
All references(83)

Other accession IDs

MGD-MRK-33673, MGI:105993, MGI:3036285