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FLASH GENE
Symbol ABCC8 contributors: mct - updated : 01-06-2009
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
HGNC id 59
Corresponding disease
HHF1 hyperinsulinemic hypoglycemia, familial, 1
PHHIF persistent neonatal hyperinsulinemic hypoglycemia of infancy
PNDM2 permanent neonatal diabetes mellitus 2
Location 11p15.1      Physical location : 17.414.432 - 17.498.449
Synonym name
  • sulfonylurea receptor 1
  • sulfonylurea receptor (hyperinsulinemia)
    • Synonym symbol(s) SUR1, ABC36, MRP8, HRINS, PHHI, SUR, HI, TNDM2
    DNA
    TYPE functioning gene
    STRUCTURE 84.02 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390095 11 similar to Aldose reductase (AR) (Aldehyde reductase) SMAP 11p15.2 small acidic protein LOC283278 11p15.2 hypothetical protein LOC283278 LOC144100 11p15.2-p15.1 hypothetical protein LOC144100 LOC390096 11 similar to large subunit ribosomal protein L36a OR7E14P 11p15.1 olfactory receptor, family 7, subfamily E, member 14 pseudogene RPS13 11p15.1 ribosomal protein S13 PIK3C2A 11p15.1 phosphoinositide-3-kinase, class 2, alpha polypeptide LOC91561 11p15.1 similar to ribosomal protein S2; 40S ribosomal protein S2 NUCB2 11p15.1-p14 nucleobindin 2 DKFZp686O24166 11p15.1 hypothetical protein DKFZp686O24166 KCNJ11 11p15.1 potassium inwardly-rectifying channel, subfamily J, member 11 ABCC8 11p15.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 LOC387757 11 LOC387757 USH1C 11p14.3 Usher syndrome 1C (autosomal recessive, severe) FLJ21290 11p15.1 hypothetical protein FLJ21290 OTOG 11p14.3 otogelin KCNC1 11p15.3 potassium voltage-gated channel, Shaw-related subfamily, member 1 MYOD1 11p15.1 myogenic factor 3 DELGEF 11p14.3 myogenic factor 3 TPH1 11p15.1-p14.3 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase) LOC113174 11p15.1 hypothetical protein BC012010 SAA3P 11p15.1-p14.3 serum amyloid A3 pseudogene MRGX3 11p15.1 G protein-coupled receptor MRGX3 MRGX4 11p15.1 G protein-coupled receptor MRGX4 SAA4 11p15.1-p14.3 serum amyloid A4, constitutive SAA2 11p15.1-p14.3 serum amyloid A2 FAM10A5 11p15.1 family with sequence similarity 10, member A5 SAA1 11p15.1-p14.3 serum amyloid A1 HPS5 11p14 Hermansky-Pudlak syndrome 5 GTF2H1 11p15.1-p14 general transcription factor IIH, polypeptide 1, 62kDa LDHA 11p15.1-p14.3 lactate dehydrogenase A LDHC 11p15.1-p14.3 lactate dehydrogenase C MGC23940 11p15.1 hypothetical protein MGC23940
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 4980 177 1581 - 2001 11306805
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two nucleotide binding folds
  • an endoplasmic retention signal
  • in addition at C terminal an anterograde signal composed in part of a dileucine motif and downstream phenylalanine
  • an extracellular N terminal
  • three asymetric membrane spanning domains (five, six and six helices)
  • two nucleotide binding sites between TM2 and TM3
  • C terminal to TM3 and in addition required for KATP channels to exit the ER/cis-Golgi compartments and transit to the cell surface
    • conjugated GlycoP , HemoP
    HOMOLOGY
    interspecies homolog to murine Abcc8
    Homologene
    FAMILY
  • ABC transporter family
    • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ABC transporter, traffic ATPase, regulator of AFFP-sensitive K+ channels(Katp) and insulin release
  • activating Katp by nucleotide binding or hydrolysis on ABCC8, which opens the channel
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent with KIR6.2 (KCNJ11) of the ATP dependent potassium channel
  • stoichiometric association in a complex of 4 (KCNJ11) (ABCC8)
  • component of ATP sensitive K+ channels
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KIR6.2 (KCNJ11)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHF1 , PHHIF , PNDM2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     gain of function
    F132L, constitute a new genetic aetiology for neonatal diabetes and they act by reducing the K(ATP) channel's ATP sensitivity
    Susceptibility maybe a minor contributor of NIDDM and obesity in French Caucasians, and hyperinsulinemia in non diabetic Mexican Americans
    Variant & Polymorphism SNP
  • R1273R
  • S1369A increasing the risk of type 2 diabetes
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    suppression of ABCC8 with antisense oligodeoxynucleotide after spinal cord injury presents an opportunity for reducing the devastating sequelae of spinal cord injury
    ANIMAL & CELL MODELS
    Abcc8(-/-) mice given antisense oligodeoxynucleotide against Abcc8 prevented progressive hemorrhagic necrosis, yielded significantly better neurological function, and resulted in lesions that were one-fourth to one-third the size of those in control animals