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

    Gene ID: 6833, updated on 31-Jul-2021

    Summary

    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
    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; PNDM3; 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 in the ABCC8 gene and deficiencies in the encoded 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, Jul 2020]
    Expression
    Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABCC8 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17392498..17476849, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17414045..17498392, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984316 Neighboring gene potassium inwardly rectifying channel subfamily J member 11 Neighboring gene VISTA enhancer hs1977 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4 Neighboring gene USH1 protein network component harmonin Neighboring gene otogelin

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inorganic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of blood-brain barrier permeability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of low-density lipoprotein particle clearance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tight junction disassembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of uterine smooth muscle relaxation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of voltage-gated potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of inward rectifying potassium channel IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of potassium ion-transporting ATPase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_790

    mRNA and Protein(s)

    1. NM_000352.6NP_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
      ENSP00000374467.4, ENST00000389817.8
      Conserved Domains (1) summary
      TIGR00957
      Location:2241578
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. NM_001287174.3NP_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, ENST00000302539.9
      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_001351295.2NP_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
      Consensus CDS
      CCDS86183.1
      Related
      ENSP00000494321.1, ENST00000644772.1
      Conserved Domains (1) summary
      cl26602
      Location:2241600
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    4. NM_001351296.2NP_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
      Consensus CDS
      CCDS86185.1
      Related
      ENSP00000494450.1, ENST00000643260.1
      Conserved Domains (1) summary
      cl26602
      Location:2241578
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    5. NM_001351297.2NP_001338226.1  ATP-binding cassette sub-family C member 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC124798
      Consensus CDS
      CCDS86184.1
      Related
      ENSP00000493749.1, ENST00000642271.1
      Conserved Domains (1) summary
      cl26602
      Location:2241577
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    RNA

    1. NR_147094.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC124798
      Related
      ENST00000645884.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      17392498..17476849 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448668.1XP_024304436.1  ATP-binding cassette sub-family C member 8 isoform X5

      Conserved Domains (1) summary
      cl26602
      Location:61034
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    2. XM_017018197.2XP_016873686.1  ATP-binding cassette sub-family C member 8 isoform X1

      Related
      ENST00000684371.1
    3. XM_017018199.1XP_016873688.1  ATP-binding cassette sub-family C member 8 isoform X2

      Related
      ENST00000683153.1
    4. XM_017018202.1XP_016873691.1  ATP-binding cassette sub-family C member 8 isoform X4

    5. XM_017018204.1XP_016873693.1  ATP-binding cassette sub-family C member 8 isoform X6

      Related
      ENSP00000496714.1, ENST00000642579.1
    6. XM_017018201.2XP_016873690.1  ATP-binding cassette sub-family C member 8 isoform X3

    RNA

    1. XR_001747946.2 RNA Sequence

      Related
      ENST00000683725.1
    2. XR_001747945.2 RNA Sequence

    3. XR_002957189.1 RNA Sequence

      Related
      ENST00000683693.1
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