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ABCC8 E382K [plasma membrane]
Stable Identifier
R-HSA-5683256
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)
Activating ABCC8 mutants cause hyperglycemia in permanent neonatal diabetes mellitus (PNDM) and transient neonatal DM (TNDM) (Homo sapiens)
ABCC8 mutants (PNDM, TNDM2) [plasma membrane] (Homo sapiens)
ABCC8 E382K [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
HGNC:59 ABCC8
Monarch:6833 ABCC8
NCBI Gene:6833 ABCC8
OMIM:600509 ABCC8
UCSC:Q09428 ABCC8
Reference Transcript
RefSeq:NM_001287174.1 ABCC8
RefSeq:NM_000352.4 ABCC8
Other Identifiers
11723976_at
11753931_a_at
11757771_a_at
16736278
210246_PM_s_at
210246_s_at
3364877
3364879
3364880
3364881
3364882
3364883
3364884
3364885
3364886
3364887
3364888
3364889
3364890
3364891
3364892
3364893
3364894
3364895
3364896
3364897
3364898
3364899
3364900
3364901
3364902
3364903
3364904
3364905
3364906
3364907
3364910
3364913
3364914
3364915
3364916
3364917
3364918
3364919
3364920
3364921
3364922
3364923
3364924
3364925
3364926
3364927
3364929
3364930
3364931
3364933
3364936
3364941
3364946
3364947
3364948
3364949
3364950
3364951
3364952
3364953
3364954
3364955
3364956
3364957
3364958
3364959
3364960
3364961
3364962
3364963
3364964
3364965
3364974
3364975
3364976
3364977
3364978
3364979
3364980
3364981
3364982
3364983
3364984
3364985
3364986
3364987
3364988
3364989
3364992
3364993
3364994
3364998
3364999
3365000
3365001
41792_at
53377_at
53384_g_at
6833
7946860
A_23_P24774
GE57802
GE739435
GE812294
GO:0000166
GO:0001508
GO:0001678
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:0030672
GO:0031004
GO:0031669
GO:0032496
GO:0032760
GO:0032868
GO:0032991
GO:0035774
GO:0042383
GO:0042626
GO:0042734
GO:0043268
GO:0043531
GO:0044325
GO:0046676
GO:0050768
GO:0050877
GO:0050905
GO:0055085
GO:0060089
GO:0060253
GO:0061535
GO:0061855
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 (PNDM, TNDM2) [plasma membrane] (Homo sapiens)
Other forms of this molecule
ABCC8 V187D [plasma membrane]
ABCC8 A1330Gfs*35 [plasma membrane]
ABCC8 F1388del [plasma membrane]
ABCC8 E1507K [plasma membrane]
ABCC8 [plasma membrane]
ABCC8 L213R [plasma membrane]
ABCC8 A1185E [plasma membrane]
ABCC8 P132L [plasma membrane]
ABCC8 L582V [plasma membrane]
ABCC8 R1379C [plasma membrane]
ABCC8 N72S [plasma membrane]
Modified Residues
Name
L-glutamic acid 382 replaced with L-lysine
Coordinate
382
PsiMod
L-lysine residue [MOD:00021]
A protein modification that effectively converts a source amino acid residue to L-lysine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name
Identifier
Synonyms
neonatal diabetes mellitus
DOID:11717
diabetes mellitus syndrome in newborn infant
Cross References
ZINC - World Drugs
ABCC8_HUMAN
Guide to Pharmacology - Targets
2594
OpenTargets
ENSG00000006071
ENSEMBL
ENSP00000303960
,
ENST00000302539
,
ENSP00000507005
,
ENST00000644542
,
ENSP00000374467
,
ENST00000389817
,
ENSP00000495532
,
ENST00000684593
ZINC - FDA approved
ABCC8_HUMAN
ZINC - Substances
ABCC8_HUMAN
ZINC target
Q09428
PRO
Q09428
GlyGen
Q09428
PDB
6C3O
,
7S60
,
7S5Z
,
7S61
,
7S5Y
,
7S5X
,
7S5V
,
6C3P
HPA
ENSG00000006071-ABCC8
Pharos - Targets
Q09428
Orphanet
ABCC8
ZINC - Predictions - Purchasable
ABCC8_HUMAN
HMDB Protein
HMDBP10762
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