Reactome will be unavailable due to host maintenance from Friday, April 27 at 6pm to Sunday, April 29 at 11:55pm.

During the outage, you may wish to use our mirror site at reactome.ncpsb.org.

ABCC8 V187D

Stable Identifier
R-HSA-5683140
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
ABCC8
ABCC8-201
ABCC8-202
ABCC8-220
CAB011451
CCDS31437
CCDS73264
ENSG00000006071
ENSP00000303960
ENSP00000374467
ENSP00000483031
ENST00000302539
ENST00000389817
ENST00000612903
EntrezGene:6833
g3643189_3p_at
GE57802
GO:0000166
GO:0001678
GO:0005267
GO:0005524
GO:0005739
GO:0005886
GO:0006810
GO:0006813
GO:0007165
GO:0007565
GO:0007613
GO:0008076
GO:0008281
GO:0008282
GO:0008542
GO:0009268
GO:0010043
GO:0010989
GO:0015272
GO:0016020
GO:0016021
GO:0016525
GO:0016887
GO:0019905
GO:0030672
GO:0032496
GO:0032760
GO:0032868
GO:0042383
GO:0042493
GO:0042626
GO:0043225
GO:0043268
GO:0044325
GO:0046676
GO:0050768
GO:0050796
GO:0055085
GO:0060253
GO:0061045
GO:0061855
GO:0071310
GO:0071805
GO:0098655
GO:0099133
GO:1900721
GO:1903818
GO:1905075
GO:1905604
HGNC:59
HPA042318
Hs.54470
ILMN_1767129
NM_000352
NM_001287174
NM_001351296
NM_001351297
NP_000343
NP_001274103
NP_001338224
NP_001338225
NP_001338226
PF00005
PF00664
PH_hs_0003567
PR01092
PR01093
SM00382
TC11001457.hg
U63455_at
uc001mnc.4
uc031xgt.2
uc057zni.1
UPI0000DBEF32
UPI00015DFF64
UPI0001E7AE33
XM_011520331
XM_017018197
XM_017018198
XM_017018199
XM_017018200
XM_017018201
XM_017018202
XM_017018204
XP_016873686
XP_016873688
XP_016873690
XP_016873691
XP_016873693
XR_001747945
XR_001747946
Participant Of
Other forms of this molecule
Modified Residues
Name
L-valine 187 replaced with L-aspartic acid
Coordinate
187
PsiMod HEY
A protein modification that effectively removes or replaces an L-valine.
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
hyperinsulinemic hypoglycemia 13317 Islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy
Cross References
ZINC - World Drugs
ZINC - FDA approved
GeneCards
ZINC - Substances
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein