Q91WA9 · ABCG4_MOUSE
- ProteinATP-binding cassette subfamily G member 4
- GeneAbcg4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids646 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL) (PubMed:15210959, PubMed:17916878, PubMed:18039927).
May play an important role in the removal of amyloid-beta peptides from brain, in a process that can be antagonized by desmosterol. However it is unclear whether ABCG4 can directly transport amyloid-beta peptides or whether peptide export may be facilitated due to changes in the membrane lipid environment (PubMed:29042617).
Induces apoptosis in various cells (By similarity).
May play an important role in the removal of amyloid-beta peptides from brain, in a process that can be antagonized by desmosterol. However it is unclear whether ABCG4 can directly transport amyloid-beta peptides or whether peptide export may be facilitated due to changes in the membrane lipid environment (PubMed:29042617).
Induces apoptosis in various cells (By similarity).
Miscellaneous
Whether ABCG4 is an LXR target gene, is still under debate. Studies performed in monocytes, and in one astrocyte cell line indicated that ABCG4 expression could be up-regulated by oxysterols and other LXR ligands (By similarity).
However, subsequent observations in a number of different cell types (primary mouse cells, oligodendrocytes and neuron-like cell lines) have not confirmed this observation (By similarity) (PubMed:17916878).
However, subsequent observations in a number of different cell types (primary mouse cells, oligodendrocytes and neuron-like cell lines) have not confirmed this observation (By similarity) (PubMed:17916878).
Catalytic activity
- ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H+ + phosphateThis reaction proceeds in the forward direction.
CHEBI:30616 + cholesterol (in)CHEBI:16113+ CHEBI:15377 = CHEBI:456216 + cholesterol (out)CHEBI:16113+ CHEBI:15378 + CHEBI:43474 - ATP + desmosterol(in) + H2O = ADP + desmosterol(out) + H+ + phosphateThis reaction proceeds in the forward direction.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasmic vesicle | |
Cellular Component | endosome | |
Cellular Component | endosome membrane | |
Cellular Component | plasma membrane | |
Molecular Function | ABC-type sterol transporter activity | |
Molecular Function | ATP binding | |
Molecular Function | ATP hydrolysis activity | |
Molecular Function | protein heterodimerization activity | |
Molecular Function | protein homodimerization activity | |
Biological Process | cellular response to high density lipoprotein particle stimulus | |
Biological Process | cellular response to leukemia inhibitory factor | |
Biological Process | cholesterol efflux | |
Biological Process | cholesterol homeostasis | |
Biological Process | positive regulation of cholesterol biosynthetic process | |
Biological Process | positive regulation of cholesterol efflux | |
Biological Process | regulation of DNA-templated transcription | |
Biological Process | sterol transport | |
Biological Process | transmembrane transport |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameATP-binding cassette subfamily G member 4
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Strains
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ91WA9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Multi-pass membrane protein
Cytoplasmic vesicle membrane ; Multi-pass membrane protein
Endosome membrane ; Multi-pass membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-393 | Cytoplasmic | ||||
Sequence: MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVDIEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSGAGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKSLAHGGRTVICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCPTYHNPADFIIEVASGEYGDLNPMLFRAVQNGLCTMAEKKSSPGKNELPAHCPTCPPELDPIESHTFATSTLTQFCILFRRTFLSILRDTVLTH | ||||||
Transmembrane | 394-414 | Helical; Name=1 | ||||
Sequence: LRFMSHVLIGVLIGLLYLHIG | ||||||
Topological domain | 415-425 | Extracellular | ||||
Sequence: DDASKVFNNTG | ||||||
Transmembrane | 426-446 | Helical; Name=2 | ||||
Sequence: FLFFSMLFLMFAALMPTVLTF | ||||||
Topological domain | 447-472 | Cytoplasmic | ||||
Sequence: PLEMAVFMREHLNYWYTLKAYYLAKT | ||||||
Transmembrane | 473-493 | Helical; Name=3 | ||||
Sequence: MADVPFQVVCPVVYCSIVYWM | ||||||
Topological domain | 494-503 | Extracellular | ||||
Sequence: TGQPAETSRF | ||||||
Transmembrane | 504-524 | Helical; Name=4 | ||||
Sequence: LLFSALAIATALVAQSLGLLI | ||||||
Topological domain | 525-532 | Cytoplasmic | ||||
Sequence: GAASTSLQ | ||||||
Transmembrane | 533-553 | Helical; Name=5 | ||||
Sequence: VATFVGPVTAIPVLLFSGFFV | ||||||
Topological domain | 554-617 | Extracellular | ||||
Sequence: SFKTIPTYLQWSSYLSYVRYGFEGLILTIYGMERGHLTCLDEQCPFRDPQIILRELDVEEAKLY | ||||||
Transmembrane | 618-638 | Helical; Name=6 | ||||
Sequence: MDFLVLGIFFLALRLLAYLVL | ||||||
Topological domain | 639-646 | Cytoplasmic | ||||
Sequence: RYRVKSER |
Keywords
- Cellular component
Phenotypes & Variants
Disruption phenotype
Abcg4 deficiency does not significantly affect the levels of sterols in the brain except for brain lathosterol levels, which are slightly elevated (PubMed:18039927).
Abcg1/Abcg4 double knockout mice display significant accumulation of 24(S)-hydroxycholesterol (24S-HC) and 27-hydroxy-cholesterol (27-HC) in addition to the cholesterol synthesis intermediates, desmosterol, lanosterol and lathosterol (PubMed:18039927, PubMed:19633360).
Abcg1/Abcg4 double knockout mice display significant accumulation of 24(S)-hydroxycholesterol (24S-HC) and 27-hydroxy-cholesterol (27-HC) in addition to the cholesterol synthesis intermediates, desmosterol, lanosterol and lathosterol (PubMed:18039927, PubMed:19633360).
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 39 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000453165 | 1-646 | ATP-binding cassette subfamily G member 4 | |||
Sequence: MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVDIEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSGAGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKSLAHGGRTVICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCPTYHNPADFIIEVASGEYGDLNPMLFRAVQNGLCTMAEKKSSPGKNELPAHCPTCPPELDPIESHTFATSTLTQFCILFRRTFLSILRDTVLTHLRFMSHVLIGVLIGLLYLHIGDDASKVFNNTGFLFFSMLFLMFAALMPTVLTFPLEMAVFMREHLNYWYTLKAYYLAKTMADVPFQVVCPVVYCSIVYWMTGQPAETSRFLLFSALAIATALVAQSLGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFKTIPTYLQWSSYLSYVRYGFEGLILTIYGMERGHLTCLDEQCPFRDPQIILRELDVEEAKLYMDFLVLGIFFLALRLLAYLVLRYRVKSER |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in the brain, in particular in neurons, microglia and astrocytes (PubMed:11856881, PubMed:12183068, PubMed:17916878, PubMed:18039927).
Expressed on blood brain barrier endothelial cells (PubMed:29042617).
Expressed in the spleen (PubMed:11856881).
Expressed on blood brain barrier endothelial cells (PubMed:29042617).
Expressed in the spleen (PubMed:11856881).
Developmental stage
Highly but transiently expressed in enterocytes and hemopoietic cells populating the liver during development, but is absent when animals are fully developed. Highly expressed in the eyes of the developing embryos as early as 12.5 dpc and developing CNS.
Gene expression databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 61-301 | ABC transporter | ||||
Sequence: IEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSGAGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKSLAHGGRTVICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCPT |
Sequence similarities
Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length646
- Mass (Da)72,098
- Last updated2004-03-01 v2
- ChecksumED83A4C4301ED6FB
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 601-603 | in Ref. 5; AAN03012/AAN31516 | ||||
Sequence: DPQ → GPT |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY040865 EMBL· GenBank· DDBJ | AAK91781.1 EMBL· GenBank· DDBJ | mRNA | ||
AF411084 EMBL· GenBank· DDBJ | AAL57369.1 EMBL· GenBank· DDBJ | mRNA | ||
AF378330 EMBL· GenBank· DDBJ | AAO13805.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ426047 EMBL· GenBank· DDBJ | CAD19779.2 EMBL· GenBank· DDBJ | mRNA | ||
AF425077 EMBL· GenBank· DDBJ | AAN03012.1 EMBL· GenBank· DDBJ | mRNA | ||
AH011944 EMBL· GenBank· DDBJ | AAN31516.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF425078 EMBL· GenBank· DDBJ | AAN31516.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC124577 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC016200 EMBL· GenBank· DDBJ | AAH16200.2 EMBL· GenBank· DDBJ | mRNA |