KEGG   Homo sapiens (human): 6833Help
Entry
6833              CDS       T01001                                 

Gene name
ABCC8, ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
Definition
(RefSeq) ATP binding cassette subfamily C member 8
  KO
K05032  ATP-binding cassette subfamily C (CFTR/MRP) member 8
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04911  Insulin secretion
hsa04930  Type II diabetes mellitus
Disease
H00512  Permanent neonatal diabetes mellitus (PNDM)
H00513  Transient neonatal diabetes mellitus (TNDM)
H01267  Familial hyperinsulinemic hypoglycemia (HHF)
Drug target
Acetohexamide: D00219
Carbutamide: D02425
Chlorpropamide: D00271
Diazoxide: D00294
Glibenclamide: D00336
Glibornuride: D02427
Gliclazide: D01599
Glimepiride: D00593
Glipizide: D00335
Gliquidone: D02430
Glisoxepide: D07118
Glyclopyramide: D01799
Glymidine: D01356
Levcromakalim: D02385
Metahexamide: D07117
Minoxidil: D00418
Mitiglinide: D01854
Nateglinide: D01111
Nicorandil: D01810
Pinacidil: D05482
Repaglinide: D00594
Tolazamide: D00379
Tolbutamide (DG00115): D00380 D06177
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Membrane transport
   02010 ABC transporters
    6833 (ABCC8)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    6833 (ABCC8)
 Human Diseases
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    6833 (ABCC8)
Transporters [BR:hsa02000]
 ABC Transporters, Eukaryotic Type
  ABCC (CFTR/MRP) subfamily
   ABCC8, 9 subgroups
    6833 (ABCC8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ABC_membrane ABC_tran SMC_N AAA_29 AAA_25 ATPase ABC_ATPase RsgA_GTPase Zeta_toxin AAA_24
Motif
Other DBs
NCBI-GeneID: 6833
NCBI-ProteinID: NP_000343
OMIM: 600509
HGNC: 59
Ensembl: ENSG00000006071
Vega: OTTHUMG00000166316
Pharos: Q09428(Tclin)
UniProt: Q09428
LinkDB All DBs
Structure
PDB: 

Position
11p15.1
AA seq 1581 aa AA seqDB search
MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI
HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS
VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG
MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA
HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV
LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK
LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT
SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT
GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS
SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN
ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS
SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL
LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV
TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE
CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT
EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT
GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD
PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD
KPEKLLSRKDSVFASFVRADK
NT seq 4746 nt NT seq  +upstreamnt  +downstreamnt
atgcccctggccttctgcggcagcgagaaccactcggccgcctaccgggtggaccagggg
gtcctcaacaacggctgctttgtggacgcgctcaacgtggtgccgcacgtcttcctactc
ttcatcaccttccccatcctcttcattggatggggaagtcagagctccaaggtgcacatc
caccacagcacatggcttcatttccctgggcacaacctgcggtggatcctgaccttcatg
ctgctcttcgtcctggtgtgtgagattgcagagggcatcctgtctgatggggtgaccgaa
tcccaccatctgcacctgtacatgccagccgggatggcgttcatggctgctgtcacctcc
gtggtctactatcacaacatcgagacttccaacttccccaagctgctaattgccctgctg
gtgtattggaccctggccttcatcaccaagaccatcaagtttgtcaagttcttggaccac
gccatcggcttctcgcagctacgcttctgcctcacagggctgctggtgatcctctatggg
atgctgctcctcgtggaggtcaatgtcatcagggtgaggagatacatcttcttcaagaca
ccgagggaggtgaagcctcccgaggacctgcaagacctgggggtacgcttcctgcagccc
ttcgtgaatctgctgtccaaaggcacctactggtggatgaacgccttcatcaagactgcc
cacaagaagcccatcgacttgcgagccatcgggaagctgcccatcgccatgagggccctc
accaactaccaacggctctgcgaggcctttgacgcccaggtgcggaaggacattcagggc
actcaaggtgcccgggccatctggcaggcactcagccatgccttcgggaggcgcctggtc
ctcagcagcactttccgcatcttggccgacctgctgggcttcgccgggccactgtgcatc
tttgggatcgtggaccaccttgggaaggagaacgacgtcttccagcccaagacacaattt
ctcggggtttactttgtctcatcccaagagttccttgccaatgcctacgtcttagctgtg
cttctgttccttgccctcctactgcaaaggacatttctgcaagcatcctactatgtggcc
attgaaactggaattaacttgagaggagcaatacagaccaagatttacaataaaattatg
cacctgtccacctccaacctgtccatgggagaaatgactgctggacagatctgtaatctg
gttgccatcgacaccaatcagctcatgtggtttttcttcttgtgcccaaacctctgggct
atgccagtacagatcattgtgggtgtgattctcctctactacatactcggagtcagtgcc
ttaattggagcagctgtcatcattctactggctcctgtccagtacttcgtggccaccaag
ctgtctcaggcccagcggagcacactggagtattccaatgagcggctgaagcagaccaac
gagatgctccgcggcatcaagctgctgaagctgtacgcctgggagaacatcttccgcacg
cgggtggagacgacccgcaggaaggagatgaccagcctcagggcctttgccatctatacc
tccatctccattttcatgaacacggccatccccattgcagctgtcctcataactttcgtg
ggccacgtcagcttcttcaaagaggccgacttctcgccctccgtggcctttgcctccctc
tccctcttccatatcttggtcacaccgctgttcctgctgtccagtgtggtccgatctacc
gtcaaagctctagtgagcgtgcaaaagctaagcgagttcctgtccagtgcagagatccgt
gaggagcagtgtgccccccatgagcccacacctcagggcccagccagcaagtaccaggcg
gtgcccctcagggttgtgaaccgcaagcgtccagcccgggaggattgtcggggcctcacc
ggcccactgcagagcctggtccccagtgcagatggcgatgctgacaactgctgtgtccag
atcatgggaggctacttcacgtggaccccagatggaatccccacactgtccaacatcacc
attcgtatcccccgaggccagctgactatgatcgtggggcaggtgggctgcggcaagtcc
tcgctccttctagccgcactgggggagatgcagaaggtctcaggggctgtcttctggagc
agccttcctgacagcgagataggagaggaccccagcccagagcgggagacagcgaccgac
ttggatatcaggaagagaggccccgtggcctatgcttcgcagaaaccatggctgctaaat
gccactgtggaggagaacatcatctttgagagtcccttcaacaaacaacggtacaagatg
gtcattgaagcctgctctctgcagccagacatcgacatcctgccccatggagaccagacc
cagattggggaacggggcatcaacctgtctggtggtcaacgccagcgaatcagtgtggcc
cgagccctctaccagcacgccaacgttgtcttcttggatgaccccttctcagctctggat
atccatctgagtgaccacttaatgcaggccggcatccttgagctgctccgggacgacaag
aggacagtggtcttagtgacccacaagctacagtacctgccccatgcagactggatcatt
gccatgaaggatggcaccatccagagggagggtaccctcaaggacttccagaggtctgaa
tgccagctctttgagcactggaagaccctcatgaaccgacaggaccaagagctggagaag
gagactgtcacagagagaaaagccacagagccaccccagggcctatctcgtgccatgtcc
tcgagggatggccttctgcaggatgaggaagaggaggaagaggaggcagctgagagcgag
gaggatgacaacctgtcgtccatgctgcaccagcgtgctgagatcccatggcgagcctgc
gccaagtacctgtcctccgccggcatcctgctcctgtcgttgctggtcttctcacagctg
ctcaagcacatggtcctggtggccatcgactactggctggccaagtggaccgacagcgcc
ctgaccctgacccctgcagccaggaactgctccctcagccaggagtgcaccctcgaccag
actgtctatgccatggtgttcacggtgctctgcagcctgggcattgtgctgtgcctcgtc
acgtctgtcactgtggagtggacagggctgaaggtggccaagagactgcaccgcagcctg
ctaaaccggatcatcctagcccccatgaggttttttgagaccacgccccttgggagcatc
ctgaacagattttcatctgactgtaacaccatcgaccagcacatcccatccacgctggag
tgcctgagccgctccaccctgctctgtgtctcagccctggccgtcatctcctatgtcaca
cctgtgttcctcgtggccctcttgcccctggccatcgtgtgctacttcatccagaagtac
ttccgggtggcgtccagggacctgcagcagctggatgacaccacccagcttccacttctc
tcacactttgccgaaaccgtagaaggactcaccaccatccgggccttcaggtatgaggcc
cggttccagcagaagcttctcgaatacacagactccaacaacattgcttccctcttcctc
acagctgccaacagatggctggaagtccgaatggagtacatcggtgcatgtgtggtgctc
atcgcagcggtgacctccatctccaactccctgcacagggagctctctgctggcctggtg
ggcctgggccttacctacgccctaatggtctccaactacctcaactggatggtgaggaac
ctggcagacatggagctccagctgggggctgtgaagcgcatccatgggctcctgaaaacc
gaggcagagagctacgaggggctcctggcaccatcgctgatcccaaagaactggccagac
caagggaagatccagatccagaacctgagcgtgcgctacgacagctccctgaagccggtg
ctgaagcacgtcaatgccctcatcgcccctggacagaagatcgggatctgcggccgcacc
ggcagtgggaagtcctccttctctcttgccttcttccgcatggtggacacgttcgaaggg
cacatcatcattgatggcattgacatcgccaaactgccgctgcacaccctgcgctcacgc
ctctccatcatcctgcaggaccccgtcctcttcagcggcaccatccgatttaacctggac
cctgagaggaagtgctcagatagcacactgtgggaggccctggaaatcgcccagctgaag
ctggtggtgaaggcactgccaggaggcctcgatgccatcatcacagaaggcggggagaat
ttcagccagggacagaggcagctgttctgcctggcccgggccttcgtgaggaagaccagc
atcttcatcatggacgaggccacggcttccattgacatggccacggaaaacatcctccaa
aaggtggtgatgacagccttcgcagaccgcactgtggtcaccatcgcgcatcgagtgcac
accatcctgagtgcagacctggtgatcgtcctgaagcggggtgccatccttgagttcgat
aagccagagaagctgctcagccggaaggacagcgtcttcgcctccttcgtccgtgcagac
aagtga

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