ABCC8 F1388del

Stable Identifier
R-HSA-5683137
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
SUR1, ATP-binding cassette transporter sub-family C member 8, ABCC8_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCC8, HRINS, SUR, SUR1
Chain
chain:1-1581
Other Identifiers
0006370731
11451
11723976_at
11753931_a_at
11757771_a_at
16736278
210246_s_at
3364879
3364880
3364882
3364883
3364888
3364890
3364891
3364894
3364901
3364904
3364907
3364910
3364913
3364914
3364915
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
41792_at
42318
53384_g_at
6833
7946860
A_23_P24774
AAA99227
AAB02278
AAB02417
AAB02418
AAB36699
AAB36700
AAC36724
ABCC8
ABCC8-201
ABCC8-202
ABCC8-220
AC124798
ADM67556
AF087138
CAB011451
CCDS31437
CCDS73264
ENSG00000006071
ENSP00000303960
ENSP00000374467
ENSP00000483031
ENST00000302539
ENST00000389817
ENST00000612903
EntrezGene:6833
g3643189_3p_at
GE57802
GO:0000166
GO:0003674
GO:0004871
GO:0005267
GO:0005524
GO:0005575
GO:0005623
GO:0005886
GO:0006810
GO:0006813
GO:0007165
GO:0007267
GO:0008150
GO:0008281
GO:0008282
GO:0015272
GO:0016020
GO:0016021
GO:0016887
GO:0022857
GO:0042383
GO:0042493
GO:0042626
GO:0043167
GO:0043225
GO:0043234
GO:0044325
GO:0050796
GO:0055085
GO:0071805
GO:0099133
HGNC:59
HM635782
HPA042318
ILMN_1767129
IPR000388
IPR000844
IPR003439
IPR003593
IPR011527
IPR017871
IPR027417
IPR036640
L40625
L78207
L78208
L78209
L78210
L78211
L78212
L78213
L78214
L78215
L78216
L78217
L78218
L78219
L78220
L78221
L78222
L78223
L78224
L78225
L78226
L78227
L78228
L78229
L78230
L78231
L78232
L78233
L78234
L78235
L78236
L78237
L78238
L78239
L78240
L78241
L78242
L78243
L78254
L78255
MIM:125853
MIM:240800
MIM:256450
MIM:600509
MIM:606176
MIM:610374
NM_000352
NM_001287174
NM_001351296
NM_001351297
NP_000343
NP_001274103
NP_001338225
NP_001338226
PF00005
PF00664
PH_hs_0003567
PR01092
PR01093
SM00382
TC11001457.hg
U63421
U63422
U63423
U63424
U63425
U63426
U63427
U63428
U63429
U63430
U63431
U63432
U63433
U63434
U63435
U63436
U63437
U63438
U63439
U63441
U63442
U63443
U63444
U63445
U63446
U63447
U63448
U63449
U63450
U63451
U63452
U63453
U63454
U63455
U63455_at
uc001mnc.4
uc031xgt.2
uc057zni.1
UPI0000DBEF32
UPI00015DFF64
UPI0001E7AE33
Participant Of
Other forms of this molecule
Modified Residues
Name
Deletion of residues 1388 to 1388
Disease
Name Identifier Synonyms
hyperinsulinemic hypoglycemia 13317 Islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy
Cross References
ZINC - World Drugs
ZINC - FDA approved
ZINC - Substances
GeneCards
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB