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

    Gene ID: 6833, updated on 23-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:59
    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
    mouse all
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    Genomic context

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    See ABCC8 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17392498..17476845, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17490094..17574439, complement)
    RS_2024_09 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 LOC105376576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373285-17373886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373887-17374488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4488 Neighboring gene MPRA-validated peak1220 silencer Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:17397887-17398425 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:17399732-17400931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408081-17408734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408735-17409388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3186 Neighboring gene Sharpr-MPRA regulatory region 5134 Neighboring gene potassium inwardly rectifying channel subfamily J member 11 Neighboring gene VISTA enhancer hs1977 Neighboring gene SDHC pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17497048-17497604 Neighboring gene uncharacterized LOC124902641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17514781-17515280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17516552-17517052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17517053-17517553 Neighboring gene USH1 protein network component harmonin Neighboring gene ReSE screen-validated silencer GRCh37_chr11:17550891-17551094 Neighboring gene otogelin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17623679-17624178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17626113-17626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17666796-17667296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17667297-17667797

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels. Zhou Q, et al. J Clin Endocrinol Metab, 2010 Dec. PMID 20810569, Free PMC Article
    2. Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8). Babenko AP, et al. FEBS Lett, 2011 Nov 16. PMID 22020219, Free PMC Article
    3. Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. Thakur S, et al. Indian Pediatr, 2011 Sep. PMID 21992908
    4. Heterozygous ABCC8 mutations are a cause of MODY. Bowman P, et al. Diabetologia, 2012 Jan. PMID 21989597
    5. Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Flanagan S, et al. Pediatr Diabetes, 2012 May. PMID 21978130

    See all (295) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.
      Title: Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.
    2. Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy.
      Title: Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy.
    3. An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
      Title: An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
    4. Dynamic duo: Kir6 and SUR in KATP channel structure and function.
      Title: Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function.
    5. Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
      Title: Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
    6. Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
      Title: Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
    7. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
      Title: Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
    8. Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
      Title: Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
    9. Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
      Title: Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
    10. The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
      Title: The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
    Submit: New GeneRIF Correction See all GeneRIFs (221)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ADP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to ATP-activated inward rectifier potassium channel activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ATP-activated inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables ATPase-coupled monoatomic cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATPase-coupled monoatomic cation transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sulfonylurea receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamate secretion, neurotransmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inorganic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular glucose homeostasis IEA
    Inferred from Electronic Annotation
    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 neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of potassium ion transport 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 potassium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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 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 xenobiotic stimulus 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
    		  
    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 
    part_of inward rectifying potassium channel IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    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 presynaptic membrane IEA
    Inferred from Electronic Annotation
    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

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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
    sulfonylurea receptor (hyperinsulinemia)
    sulfonylurea receptor 1

    NCBI Reference Sequences (RefSeq)

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    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_000352.6 → NP_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
      A6NMX8, E3UYX6, O75948, Q09428, Q16583
      UniProtKB/TrEMBL
      A0A2R8Y4Z4
      Related
      ENSP00000374467.4, ENST00000389817.8
      Conserved Domains (1) summary
      TIGR00957
      Location:224 → 1578
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    2. NM_001287174.3 → NP_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/TrEMBL
      A0A2R8Y4Z4
      Related
      ENSP00000303960.4, ENST00000302539.9
      Conserved Domains (3) summary
      TIGR01271
      Location:223 → 1582
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:1017 → 1295
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:1343 → 1582
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001351295.2 → NP_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
      UniProtKB/TrEMBL
      A0A2R8Y4V0, A0A2R8Y4Z4
      Related
      ENSP00000494321.1, ENST00000644772.1
      Conserved Domains (1) summary
      cl26602
      Location:224 → 1600
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    4. NM_001351296.2 → NP_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
      UniProtKB/TrEMBL
      A0A2R8Y4Z4, A0A2R8Y5D8
      Related
      ENSP00000494450.1, ENST00000643260.1
      Conserved Domains (1) summary
      cl26602
      Location:224 → 1578
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    5. NM_001351297.2 → NP_001338226.1  ATP-binding cassette sub-family C member 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC124798
      Consensus CDS
      CCDS86184.1
      UniProtKB/TrEMBL
      A0A2R8Y4Z4, A0A2R8YDG0
      Related
      ENSP00000493749.1, ENST00000642271.1
      Conserved Domains (1) summary
      cl26602
      Location:224 → 1577
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      17392498..17476845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      17490094..17574439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09428.6 GenPept UniProtKB/Swiss-Prot:Q09428

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