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ABCC8 F1388del [plasma membrane]
Stable Identifier
R-HSA-5683137
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
SUR1, ATP-binding cassette transporter sub-family C member 8, ABCC8_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCC8 can cause hypo- and hyper-glycemias (Homo sapiens)
Defective ABCC8 does not form functional KATP channels, causing hyperinsulinemic hypoglycemia (Homo sapiens)
KCNJ11 tetramer:ABCC8 mutants [plasma membrane] (Homo sapiens)
ABCC8 mutants (HHF1) [plasma membrane] (Homo sapiens)
ABCC8 F1388del [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q09428 ABCC8
Gene Names
ABCC8, HRINS, SUR, SUR1
Chain
chain:1-1581
Reference Genes
BioGPS Gene:6833 ABCC8
COSMIC (genes):ABCC8 ABCC8
CTD Gene:6833 ABCC8
dbSNP Gene:6833 ABCC8
ENSEMBL:ENSG00000006071 ABCC8
ENSEMBL_homo_sapiens_GENE:ENSG00000006071.16 ABCC8
HGNC:59 ABCC8
KEGG Gene (Homo sapiens):6833 ABCC8
Monarch:6833 ABCC8
NCBI Gene:6833 ABCC8
OMIM:600509 ABCC8
UCSC:Q09428 ABCC8
Reference Transcript
RefSeq:NM_000352.4 ABCC8
RefSeq:NM_001287174.1 ABCC8
Other Identifiers
11723976_at
11753931_a_at
11757771_a_at
16736278
210246_PM_s_at
210246_s_at
3364877
3364879
3364880
3364882
3364883
3364888
3364890
3364891
3364894
3364901
3364904
3364907
3364910
3364913
3364914
3364915
3364916
3364917
3364918
3364919
3364920
3364921
3364923
3364927
3364929
3364930
3364933
3364936
3364941
3364946
3364948
3364951
3364952
3364954
3364960
3364964
3364974
3364975
3364980
3364982
3364983
3364987
3364988
3364989
3364992
3364994
3364998
3364999
3365000
41792_at
53384_g_at
6833
7946860
A_23_P24774
GE57802
GO:0000166
GO:0001678
GO:0003012
GO:0003013
GO:0003824
GO:0005215
GO:0005267
GO:0005515
GO:0005524
GO:0005886
GO:0006813
GO:0007565
GO:0007613
GO:0008281
GO:0008282
GO:0008542
GO:0009268
GO:0009410
GO:0010043
GO:0010989
GO:0015272
GO:0016020
GO:0016525
GO:0016787
GO:0016887
GO:0019829
GO:0022414
GO:0023052
GO:0030154
GO:0030672
GO:0031004
GO:0031410
GO:0032496
GO:0032760
GO:0032868
GO:0032991
GO:0034330
GO:0035774
GO:0042383
GO:0042626
GO:0043226
GO:0043268
GO:0043531
GO:0044325
GO:0046676
GO:0048856
GO:0048870
GO:0050768
GO:0050877
GO:0050905
GO:0055085
GO:0060089
GO:0060253
GO:0061535
GO:0061855
GO:0071310
GO:0071805
GO:0098662
GO:0140359
GO:0140657
GO:1900721
GO:1905075
GO:1905604
GO:1990573
HMNXSV003039832
ILMN_1767129
PH_hs_0003567
TC11001457.hg
U63455_at
g3643189_3p_at
Participates
as a member of
ABCC8 mutants (HHF1) [plasma membrane] (Homo sapiens)
Other forms of this molecule
ABCC8 N72S [plasma membrane]
ABCC8 E382K [plasma membrane]
ABCC8 R1379C [plasma membrane]
ABCC8 L582V [plasma membrane]
ABCC8 P132L [plasma membrane]
ABCC8 A1185E [plasma membrane]
ABCC8 L213R [plasma membrane]
ABCC8 [plasma membrane]
ABCC8 E1507K [plasma membrane]
ABCC8 A1330Gfs*35 [plasma membrane]
ABCC8 V187D [plasma membrane]
Modified Residues
Name
Deletion of residues 1388 to 1388
Disease
Name
Identifier
Synonyms
hyperinsulinemic hypoglycemia
DOID:13317
Islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy
Cross References
RefSeq
NP_000343.2
,
NP_001274103.1
ZINC - World Drugs
ABCC8_HUMAN
Guide to Pharmacology - Targets
2594
OpenTargets
ENSG00000006071
ZINC - FDA approved
ABCC8_HUMAN
ZINC - Substances
ABCC8_HUMAN
ZINC target
Q09428
PRO
Q09428
PDB
7S5V
,
7S61
,
7S5Z
,
7S5X
,
6C3P
,
7S5Y
,
7S60
,
6C3O
GeneCards
Q09428
HPA
ENSG00000006071-ABCC8
Ensembl
ENSP00000374467
,
ENSP00000303960
,
ENST00000684593
,
ENSG00000006071
,
ENSP00000507005
,
ENST00000644542
,
ENST00000302539
,
ENST00000389817
,
ENSP00000495532
Pharos - Targets
Q09428
ZINC - Predictions - Purchasable
ABCC8_HUMAN
Orphanet
15056
HMDB Protein
HMDBP10762
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