• Gene id: 6833

Gene Summary

• Gene Symbol: ABCC8   Gene   UCSC   Ensembl
• Aliases: ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
• Gene name: ATP binding cassette subfamily C member 8
• Alternate names: ATP-binding cassette sub-family C member 8, 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,
• Gene location: 11p15.1 (17476848: 17392497)     Exons: 38     NC_000011.10
• Gene summary(Entrez): 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, M
• OMIM: 185641

Protein Summary

• Protein general information: Q09428  
  • Name: ATP binding cassette sub family C member 8 (Sulfonylurea receptor 1)
  • Length: 1581  
  • Mass: 176992
• Sequence:

  MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPGHNLRW
  ILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALLVYWTLAFITK
  TIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLL
  SKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
  LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAVLLFLALLLQRTFLQA
  SYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNLVAIDTNQLMWFFFLCPNLWAMPVQIIVGVI
  LLYYILGVSALIGAAVIILLAPVQYFVATKLSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETT
  RRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
  VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDAD
  NCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKSSLLLAALGEMQKVSGAVFWSSLPDSEIGED
  PSPERETATDLDIRKRGPVAYASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGER
  GINLSGGQRQRISVARALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
  AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMSSRDGLLQDEEEEEEE
  AAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAARNC
  SLSQECTLDQTVYAMVFTVLCSLGIVLCLVTSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFS
  SDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
  SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVLIAAVTSISNSLHREL
  SAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKTEAESYEGLLAPSLIPKNWPDQGKIQIQNLS
  VRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIIL
  QDPVLFSGTIRFNLDPERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
  IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFDKPEKLLSRKDSVFAS
  FVRADK

• Structural information:
  • Protein Domains: (299..60-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (679..92-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (1012..130-)
    type-1 (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR000844  IPR027417  IPR000388  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 6C3O 6C3P
  • PDBsum: 6C3O 6C3P
  • DIP: 58642
  • STRING: ENSP00000303960
• Other Databases: GeneCards:  ABCC8  Malacards:  ABCC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IDA	molecular function
GO:0005267	potassium channel activity	IMP	molecular function
GO:0015272	ATP-activated inward rectifier potassium channel activity	NAS	contributes to
GO:0019829	ATPase-coupled cation transmembrane transporter activity	ISS	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	ISS	molecular function
GO:0098662	inorganic cation transmembrane transport	ISS	biological process
GO:0098662	inorganic cation transmembrane transport	ISS	biological process
GO:0031004	potassium ion-transporting ATPase complex	ISS	cellular component
GO:0071805	potassium ion transmembrane transport	NAS	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005267	potassium channel activity	IMP	molecular function
GO:0005267	potassium channel activity	IMP	molecular function
GO:0008281	sulfonylurea receptor activity	IEA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0008282	inward rectifying potassium channel	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04911	Insulin secretion
hsa04930	Type II diabetes mellitus
hsa02010	ABC transporters

Diseases

Associated diseases	References
Permanent neonatal diabetes mellitus	KEGG:H00512
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
Transient neonatal diabetes mellitus	KEGG:H00513
Permanent neonatal diabetes mellitus	KEGG:H00512
Familial hyperinsulinemic hypoglycemia	KEGG:H01267
Transient neonatal diabetes mellitus	KEGG:H00513
Hypertension	PMID:11030411
Hyperinsulinism	PMID:12199344
type 2 diabetes mellitus	PMID:18599530
type 2 diabetes mellitus	PMID:17259403
type 2 diabetes mellitus	PMID:15579791
type 2 diabetes mellitus	PMID:18346985
type 2 diabetes mellitus	PMID:11030411
type 2 diabetes mellitus	PMID:18664331
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq