ABCG5 R446* [plasma membrane]

Stable Identifier
R-HSA-5679142
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
ABCG5 R446* [plasma membrane] icon
ABCG5 R446* [plasma membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q9H222 ABCG5
Gene Names
ABCG5
Chain
chain:1-651
Reference Genes
BioGPS Gene:64240 ABCG5
COSMIC (genes):ABCG5 ABCG5
CTD Gene:64240 ABCG5
dbSNP Gene:64240 ABCG5
ENSEMBL:ENSG00000138075 ABCG5
ENSEMBL_homo_sapiens_GENE:ENSG00000138075.14 ABCG5
HGNC:13886 ABCG5
KEGG Gene (Homo sapiens):64240 ABCG5
Monarch:64240 ABCG5
NCBI Gene:64240 ABCG5
OMIM:605459 ABCG5
UCSC:Q9H222 ABCG5
Reference Transcript
Other Identifiers
11756916_a_at
16897037
220383_PM_at
220383_at
2550757
2550758
2550759
2550760
2550761
2550762
2550764
2550768
2550771
2550772
2550773
2550775
2550776
2550777
2550778
2550779
2550781
2550783
2550784
2550785
64240
78329_at
8051866
A_23_P119763
GE63172
GO:0000166
GO:0003824
GO:0005215
GO:0005515
GO:0005524
GO:0005886
GO:0006869
GO:0007584
GO:0009410
GO:0010212
GO:0010949
GO:0014850
GO:0015918
GO:0016020
GO:0016324
GO:0016787
GO:0016887
GO:0022600
GO:0023052
GO:0030299
GO:0031667
GO:0033344
GO:0038183
GO:0042626
GO:0042632
GO:0043190
GO:0043235
GO:0045177
GO:0045796
GO:0046872
GO:0046982
GO:0046983
GO:0055085
GO:0061024
GO:0070328
GO:0120009
GO:0120020
GO:0140359
GO:0140657
HMNXSV003028351
HMNXSV003038078
HMNXSV003055328
ILMN_1716592
PH_hs_0007986
TC02001794.hg
g11967968_3p_at
Participates
as a member of
Other forms of this molecule
ABCG5 R389H [plasma membrane]
ABCG5 R408* [plasma membrane]
ABCG5 Q16* [plasma membrane]
ABCG5 R419H [plasma membrane]
ABCG5 R243* [plasma membrane]
ABCG5 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 446
Coordinate
446
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
lipid metabolism disorder DOID:3146 dyslipidemia, fatty acid metabolism disorder
Cross References
RefSeq
Guide to Pharmacology - Targets
794
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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