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    ABCC8 ATP binding cassette subfamily C member 8 [ Homo sapiens (human) ]

    Gene ID: 6833, updated on 9-Jul-2017
    Official Symbol
    ABCC8provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 8provided by HGNC
    Primary source
    HGNC:HGNC:59
    See related
    Ensembl:ENSG00000006071 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
    Location:
    11p15.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (17392885..17476870, 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 LOC107984316 Neighboring gene potassium voltage-gated channel subfamily J member 11 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4 Neighboring gene USH1 protein network component harmonin Neighboring gene otogelin

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
      ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • ATP sensitive Potassium channels, organism-specific biosystem (from REACTOME)
      ATP sensitive Potassium channels, organism-specific biosystemATP sensitive K+ channels couple intracellular metabolism with membrane excitability. These channels are inhibited by ATP so are open in low metabolic states and close in high metabolic states, resul...
    • Defective ABCC8 can cause hypoglycemias and hyperglycemias, organism-specific biosystem (from REACTOME)
      Defective ABCC8 can cause hypoglycemias and hyperglycemias, organism-specific biosystemATP-binding cassette sub-family C member 8 (ABCC8) is a subunit of the beta-cell ATP-sensitive potassium channel (KATP). KATP channels play an important role in the control of insulin release. Elevat...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    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
     
    ATP-activated inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATPase-coupled anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    potassium channel activity IMP
    Inferred from Mutant Phenotype
    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
    ATP hydrolysis coupled anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of low-density lipoprotein particle clearance IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of maintenance of permeability of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of occluding junction disassembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of uterine smooth muscle relaxation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of voltage-gated potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    response to drug IBA
    Inferred from Biological aspect of Ancestor
    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
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ATP-sensitive potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    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
    ATP-binding cassette, sub-family C (CFTR/MRP), 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 splice site in the 5' coding region compared to variant 3. The encoded isoform (2) is shorter than isoform 3. Isoforms 2 and 4 are the same length but differ in sequence.
      Source sequence(s)
      AC124798, AF087138, BM313666, BM352492, R84665
      Consensus CDS
      CCDS31437.1
      UniProtKB/Swiss-Prot
      Q09428
      Related
      ENSP00000374467.3, OTTHUMP00000232577, ENST00000389817.7, OTTHUMT00000389093
      Conserved Domains (3) summary
      TIGR01271
      Location:2231581
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:10161294
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:13421581
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001287174.1NP_001274103.1  ATP-binding cassette sub-family C member 8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses two alternate in-frame splice sites in the 5' coding region compared to variant 3. The encoded isoform (1) is shorter than isoform 3
      Source sequence(s)
      AC124798, AF087138, BM313666, BM352492, BU950000, R84665
      Consensus CDS
      CCDS73264.1
      UniProtKB/Swiss-Prot
      Q09428
      Related
      ENSP00000303960.4, ENST00000302539.8
      Conserved Domains (3) summary
      TIGR01271
      Location:2231582
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:10171295
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:13431582
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001351295.1NP_001338224.1  ATP-binding cassette sub-family C member 8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC124798
    4. NM_001351296.1NP_001338225.1  ATP-binding cassette sub-family C member 8 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes isoform (4). Isoforms 2 and 4 are the same length but differ in sequence.
      Source sequence(s)
      AC124798
    5. NM_001351297.1NP_001338226.1  ATP-binding cassette sub-family C member 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC124798

    RNA

    1. NR_147094.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC124798

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      17392885..17476870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520331.2XP_011518633.1  ATP-binding cassette sub-family C member 8 isoform X4

      Conserved Domains (3) summary
      TIGR01271
      Location:2231581
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:10161294
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:13421581
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_017018200.1XP_016873689.1  ATP-binding cassette sub-family C member 8 isoform X5

    3. XM_017018199.1XP_016873688.1  ATP-binding cassette sub-family C member 8 isoform X3

    4. XM_017018198.1XP_016873687.1  ATP-binding cassette sub-family C member 8 isoform X2

    5. XM_017018197.1XP_016873686.1  ATP-binding cassette sub-family C member 8 isoform X1

    6. XM_017018202.1XP_016873691.1  ATP-binding cassette sub-family C member 8 isoform X7

    7. XM_017018204.1XP_016873693.1  ATP-binding cassette sub-family C member 8 isoform X9

    8. XM_017018201.1XP_016873690.1  ATP-binding cassette sub-family C member 8 isoform X6

    9. XM_017018203.1XP_016873692.1  ATP-binding cassette sub-family C member 8 isoform X8

      Related
      ENSP00000431653.1, OTTHUMP00000232580, ENST00000527905.5, OTTHUMT00000389098

    RNA

    1. XR_001747946.1 RNA Sequence

    2. XR_001747945.1 RNA Sequence

    3. XR_001747947.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

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