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ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [ Homo sapiens (human) ]

Gene ID: 6833, updated on 30-Jun-2015
Official Symbol
ABCC8provided by HGNC
Official Full Name
ATP-binding cassette, sub-family C (CFTR/MRP), member 8provided by HGNC
Primary source
HGNC:HGNC:59
See related
Ensembl:ENSG00000006071; HPRD:02741; MIM:600509; Vega:OTTHUMG00000166316
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
HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Orthologs
See ABCC8 in Epigenomics, MapViewer
Location:
11p15.1
Exon count:
40
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (17392885..17476845, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17414432..17498449, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376576 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene potassium channel, inwardly rectifying subfamily J, member 11 Neighboring gene succinate dehydrogenase complex, subunit C pseudogene 4 Neighboring gene Usher syndrome 1C Neighboring gene otogelin

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
sulfonylurea receptor activity IEA
Inferred from Electronic Annotation
more info
 
syntaxin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to organic substance IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to pH IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ATP-binding cassette sub-family C member 8
Names
ATP-binding cassette transporter sub-family C member 8
sulfonylurea receptor (hyperinsulinemia)
sulfonylurea receptor 1

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_008867.1 RefSeqGene

    Range
    5058..89018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000352.4NP_000343.2  ATP-binding cassette sub-family C member 8 isoform 2

    See identical proteins and their annotated locations for NP_000343.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC124798, AF087138, BM313666, BM352492, R84665
    Consensus CDS
    CCDS31437.1
    UniProtKB/Swiss-Prot
    Q09428
    Related
    ENSP00000374467, OTTHUMP00000232577, ENST00000389817, OTTHUMT00000389093
    Conserved Domains (3) summary
    pfam00664
    Location:10121294
    ABC_membrane; ABC transporter transmembrane region
    TIGR01271
    Location:2231581
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl21455
    Location:13421581
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
  2. NM_001287174.1NP_001274103.1  ATP-binding cassette sub-family C member 8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC124798, AF087138, BM313666, BM352492, BU950000, R84665
    Consensus CDS
    CCDS73264.1
    UniProtKB/Swiss-Prot
    Q09428
    Related
    ENSP00000303960, ENST00000302539
    Conserved Domains (3) summary
    pfam00664
    Location:10131295
    ABC_membrane; ABC transporter transmembrane region
    TIGR01271
    Location:2231582
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl21455
    Location:13431582
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    17392885..17476845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520331.1XP_011518633.1  

    Conserved Domains (3) summary
    pfam00664
    Location:10121294
    ABC_membrane; ABC transporter transmembrane region
    TIGR01271
    Location:2231581
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl21455
    Location:13421581
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011520333.1XP_011518635.1  

    Conserved Domains (5) summary
    COG1122
    Location:184416
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
    COG1132
    Location:4971079
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:512794
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:189
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:8421081
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_011520332.1XP_011518634.1  

    Conserved Domains (3) summary
    COG1132
    Location:287933
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:10131295
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:679907
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. XM_011520334.1XP_011518636.1  

    Conserved Domains (3) summary
    COG1132
    Location:287933
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:318590
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:679907
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_930890.1 RNA Sequence

  2. XR_930893.1 RNA Sequence

  3. XR_930892.1 RNA Sequence

  4. XR_930891.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    17414230..17498217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)