ABCG5 R389H

Stable Identifier
R-HSA-5679176
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCG5
Chain
chain:1-651
Reference Transcript
Other Identifiers
0005860128
11756916_a_at
16514
16897037
220383_at
2550757
2550758
2550759
2550760
2550761
2550762
2550764
2550768
2550771
2550772
2550773
2550775
2550776
2550777
2550778
2550779
2550781
2550783
2550784
2550785
5DO7
64240
78329_at
8051866
A_23_P119763
AAG40003
AAG53099
AAI11542
AAK85387
AAK85388
ABCG5
ABCG5-201
AC011242
AC108476
AF312715
AF320293
AF404106
AF404107
BC111541
CCDS1814
CH471053
EAX00286
ENSG00000138075
ENSP00000260645
ENST00000260645
EntrezGene:64240
g11967968_3p_at
GE63172
GO:0000166
GO:0003674
GO:0005515
GO:0005524
GO:0005575
GO:0005623
GO:0005886
GO:0005887
GO:0006810
GO:0006855
GO:0006869
GO:0007584
GO:0007588
GO:0008150
GO:0010212
GO:0010949
GO:0016020
GO:0016021
GO:0016324
GO:0016887
GO:0017127
GO:0022857
GO:0030299
GO:0032991
GO:0033344
GO:0042493
GO:0042592
GO:0042626
GO:0042632
GO:0043167
GO:0043190
GO:0043235
GO:0045177
GO:0045796
GO:0046872
GO:0046982
GO:0055085
HGNC:13886
HPA016514
ILMN_1716592
IPR003439
IPR003593
IPR013525
IPR027417
MIM:210250
MIM:605459
NM_022436
NP_071881
PF00005
PF01061
PH_hs_0007986
SM00382
TC02001794.hg
uc002rtn.3
UPI0000046560
XM_011533024
XM_011533025
XM_011533026
XM_011533027
XP_011531326
XP_011531327
XP_011531328
XP_011531329
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 389 replaced with L-histidine
Coordinate
389
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
lipid metabolism disorder 3146 dyslipidemia, fatty acid metabolism disorder
Cross References
RefSeq
GeneCards
PRO
Orphanet
PDB