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MIRAGE
ATP-binding cassette sub-family G member 5
Summary
- UniProt ID
- Q9H222
- Gene Symbol
-
- ABCG5
- Gene ID
- 64240
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Cell membrane
- Disease variant
- Glycoprotein
- Lipid transport
- Magnesium
- Metal-binding
- Reference proteome
- Translocase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| plasma membrane |
| receptor complex |
| apical plasma membrane |
| ATP-binding cassette (ABC) transporter complex |
Sequence
MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARRNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| ABC transporters in lipid homeostasis | Homo sapiens |
| Defective ABCG5 causes sitosterolemia | Homo sapiens |
| Defective ABCG8 causes GBD4 and sitosterolemia | Homo sapiens |
| LXRs regulate gene expression linked to cholesterol transport and efflux | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060983 | sitosterolemia 2 | |
| DOID:0090019 | sitosterolemia 1 | |
| DOID:2349 | arteriosclerosis |
