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ABCG5 [plasma membrane]
Stable Identifier
R-HSA-265448
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCG8 causes GBD4 and sitosterolemia (Homo sapiens)
Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region (Homo sapiens)
mutant ABCG8:ABCG5 [plasma membrane] (Homo sapiens)
ABCG5 [plasma membrane] (Homo sapiens)
Signal Transduction (Homo sapiens)
Signaling by Nuclear Receptors (Homo sapiens)
NR1H2 and NR1H3-mediated signaling (Homo sapiens)
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux (Homo sapiens)
Expression of ABCG5 regulated by NR1H2,3 (Homo sapiens)
ABCG5 [plasma membrane] (Homo sapiens)
Transport of small molecules (Homo sapiens)
ABC-family proteins mediated transport (Homo sapiens)
ABC transporters in lipid homeostasis (Homo sapiens)
ABCG5:ABCG8 transports sterols from cytosol to extracellular region (Homo sapiens)
ABCG5:ABCG8 [plasma membrane] (Homo sapiens)
ABCG5 [plasma membrane] (Homo sapiens)
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
RefSeq:NM_022436.2 ABCG5
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 an output of
Expression of ABCG5 regulated by NR1H2,3 (Homo sapiens)
as a component of
mutant ABCG8:ABCG5 [plasma membrane] (Homo sapiens)
ABCG5:ABCG8 [plasma membrane] (Homo sapiens)
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 R446* [plasma membrane]
Inferred To
ABCG5 [plasma membrane]
(Bos taurus)
ABCG5 [plasma membrane]
(Canis familiaris)
ABCG5 [plasma membrane]
(Dictyostelium discoideum)
ABCG5 [plasma membrane]
(Gallus gallus)
ABCG5 [plasma membrane]
(Mus musculus)
ABCG5 [plasma membrane]
(Plasmodium falciparum)
ABCG5 [plasma membrane]
(Rattus norvegicus)
ABCG5 [plasma membrane]
(Saccharomyces cerevisiae)
ABCG5 [plasma membrane]
(Sus scrofa)
Dmel\CG11069 [plasma membrane]
(Drosophila melanogaster)
abch-1 [plasma membrane]
(Caenorhabditis elegans)
Homologues of ABCG5 [plasma membrane]
(Dictyostelium discoideum)
Cross References
RefSeq
NP_071881.1
Guide to Pharmacology - Targets
794
OpenTargets
ENSG00000138075
GeneCards
Q9H222
HPA
ENSG00000138075-ABCG5
Ensembl
ENSP00000384513
,
ENSG00000138075
,
ENST00000405322
PRO
Q9H222
Pharos - Targets
Q9H222
Orphanet
15059
PDB
5DO7
,
7R8B
,
7R88
,
7JR7
,
7R89
,
7R8A
,
7R87
,
8CUB
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