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

Gene ID: 6833, updated on 27-Jan-2020

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; 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]
Expression
Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues See more
Orthologs

Genomic context

See ABCC8 in Genome Data Viewer
Location:
11p15.1
Exon count:
38
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17392498..17476849, 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 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

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
Process Evidence Code Pubs
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
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
inward rectifying potassium channel IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
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)

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..89405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    ENSP00000374467.3, ENST00000389817.7
    Conserved Domains (1) summary
    cl26602
    Location:2241578
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. NM_001287174.2NP_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 109.20191205

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

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

  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
    ENST00000646993.1
  2. XR_001747945.2 RNA Sequence

  3. XR_002957189.1 RNA Sequence

    Related
    ENST00000642611.1
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