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ABCC9 S1020P [plasma membrane]
Stable Identifier
R-HSA-5678912
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
SUR2, ATP-binding cassette sub-family C member 9, ABCC9_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome (Homo sapiens)
Defective ABCC9 (in KCNJ11:ABCC9) does not transport K+ from extracellular region to cytosol (Homo sapiens)
ABCC9 mutants:KCNJ11 [plasma membrane] (Homo sapiens)
ABCC9 mutants [plasma membrane] (Homo sapiens)
ABCC9 S1020P [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O60706 ABCC9
Gene Names
ABCC9, SUR2
Chain
chain:1-1549
Reference Genes
BioGPS Gene:10060 ABCC9
COSMIC (genes):ABCC9 ABCC9
CTD Gene:10060 ABCC9
dbSNP Gene:10060 ABCC9
ENSEMBL:ENSG00000069431 ABCC9
ENSEMBL_homo_sapiens_GENE:ENSG00000069431.14 ABCC9
HGNC:60 ABCC9
KEGG Gene (Homo sapiens):10060 ABCC9
Monarch:10060 ABCC9
NCBI Gene:10060 ABCC9
OMIM:601439 ABCC9
UCSC:O60706 ABCC9
Reference Transcript
RefSeq:NM_020297.3 ABCC9
RefSeq:NM_005691.3 ABCC9
RefSeq:XM_005253288.3 ABCC9
RefSeq:XM_005253286.3 ABCC9
RefSeq:XM_005253287.4 ABCC9
RefSeq:XM_005253284.3 ABCC9
RefSeq:XM_011520545.2 ABCC9
Other Identifiers
10060
11742433_a_at
11758382_s_at
16762154
208462_PM_s_at
208462_s_at
208561_PM_at
208561_at
208562_PM_s_at
208562_s_at
235578_PM_at
235578_at
3446920
3446921
3446922
3446923
3446924
3446925
3446926
3446927
3446928
3446929
3446930
3446931
3446935
3446936
3446940
3446944
3446947
3446948
3446949
3446950
3446951
3446952
3446953
3446954
3446955
3446956
3446957
3446958
3446960
3446961
3446962
3446963
3446964
3446965
3446966
3446971
3446972
3446974
3446976
3446977
3446979
3446980
3446981
3446982
3446983
3446984
3446985
3446986
3446987
3446988
3446989
3446993
3446994
3446997
3446999
3447001
3447003
37260_at
37261_g_at
75176_at
7961710
A_23_P204194
A_23_P368691
A_24_P178503
GE505652
GE81542
GE85858
GO:0000166
GO:0001508
GO:0001568
GO:0003007
GO:0003012
GO:0003013
GO:0003824
GO:0005215
GO:0005261
GO:0005267
GO:0005524
GO:0005886
GO:0006813
GO:0008217
GO:0008281
GO:0008282
GO:0009410
GO:0015272
GO:0015459
GO:0016020
GO:0016787
GO:0016887
GO:0019829
GO:0022857
GO:0030017
GO:0031004
GO:0033198
GO:0042626
GO:0043225
GO:0043226
GO:0044325
GO:0045776
GO:0048144
GO:0048856
GO:0051607
GO:0055085
GO:0060089
GO:0060976
GO:0061337
GO:0071805
GO:0072359
GO:0086003
GO:0098542
GO:0098655
GO:0098656
GO:0098662
GO:0098772
GO:0140359
GO:0140657
GO:0150104
GO:1990573
HMNXSV003008625
HMNXSV003024354
HMNXSV003039091
Hs.137418.0.A1_3p_at
ILMN_1751453
ILMN_2366473
PH_hs_0022557
TC12001300.hg
g10947121_3p_a_at
Participates
as a member of
ABCC9 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
ABCC9 T1547I [plasma membrane]
ABCC9 R1154W [plasma membrane]
ABCC9 A1513T [plasma membrane]
ABCC9 R1154Q [plasma membrane]
ABCC9 H60Y [plasma membrane]
ABCC9 C1043Y [plasma membrane]
ABCC9 L1524Kfs*5 [plasma membrane]
ABCC9 [plasma membrane]
ABCC9 R1116H [plasma membrane]
Modified Residues
Name
L-serine 1020 replaced with L-proline
Coordinate
1020
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
hypertrichosis
DOID:420
hypertrichosis NOS (disorder), hypertrichosis (disorder)
osteochondrodysplasia
DOID:2256
Unspecified anomaly of cartilage (disorder), chondrodystrophy, Congenital anomaly of cartilage (disorder), Osteochondrodysplasia syndrome (disorder), Cartilage Development disorder
Cross References
RefSeq
NP_005682.2
,
XP_011518847.1
,
XP_005253345.1
,
XP_005253343.1
,
NP_064693.2
,
XP_005253344.1
,
XP_005253341.1
ZINC - World Drugs
ABCC9_HUMAN
Guide to Pharmacology - Targets
2746
OpenTargets
ENSG00000069431
ZINC - Substances
ABCC9_HUMAN
ZINC target
O60706
PRO
O60706
ZINC - Investigational
ABCC9_HUMAN
HPA
ENSG00000069431-ABCC9
GeneCards
O60706
Ensembl
ENSP00000261201
,
ENSP00000261200
,
ENST00000261201
,
ENST00000261200
,
ENSG00000069431
Pharos - Targets
O60706
Orphanet
15057
ZINC - Predictions - Purchasable
ABCC9_HUMAN
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