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Aliases for ABCG1 Gene

Aliases for ABCG1 Gene

  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 1 2 3
  • ATP-Binding Cassette Transporter 8 2 3 4
  • ABC8 3 4 6
  • WHITE1 3 6
  • White Protein Homolog (ATP-Binding Cassette Transporter 8) 3
  • ATP-Binding Cassette Transporter Member 1 Of Subfamily G 3
  • ATP-Binding Cassette Sub-Family G Member 1 3
  • Homolog Of Drosophila White 3
  • White Protein Homolog 4
  • ABC Transporter 8 3
  • WHT1 4

External Ids for ABCG1 Gene

Summaries for ABCG1 Gene

Entrez Gene Summary for ABCG1 Gene

  • The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCG1 Gene

ABCG1 (ATP-Binding Cassette, Sub-Family G (WHITE), Member 1) is a Protein Coding gene. Diseases associated with ABCG1 include tangier disease and sitosterolemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and phospholipid binding. An important paralog of this gene is ABCG8.

UniProtKB/Swiss-Prot for ABCG1 Gene

  • Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages

Gene Wiki entry for ABCG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCG1 Gene

Genomics for ABCG1 Gene

Genomic Location for ABCG1 Gene

Start:
42,199,689 bp from pter
End:
42,297,244 bp from pter
Size:
97,556 bases
Orientation:
Plus strand

Genomic View for ABCG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG1 Gene

Regulatory Elements for ABCG1 Gene

Proteins for ABCG1 Gene

  • Protein details for ABCG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45844-ABCG1_HUMAN
    Recommended name:
    ATP-binding cassette sub-family G member 1
    Protein Accession:
    P45844
    Secondary Accessions:
    • Q86SU8
    • Q96L76
    • Q9BXK6
    • Q9BXK7
    • Q9BXK8
    • Q9BXK9
    • Q9BXL0
    • Q9BXL1
    • Q9BXL2
    • Q9BXL3
    • Q9BXL4

    Protein attributes for ABCG1 Gene

    Size:
    678 amino acids
    Molecular mass:
    75592 Da
    Quaternary structure:
    • May form heterodimers with several heterologous partners of the ABCG subfamily
    Miscellaneous:
    • A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells.
    SequenceCaution:
    • Sequence=AAC51098.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK28841.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA95530.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13728.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA62631.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC00730.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCG1 Gene

neXtProt entry for ABCG1 Gene

Proteomics data for ABCG1 Gene at MOPED

Post-translational modifications for ABCG1 Gene

  • Palmitoylation at Cys-315 seems important for trafficking from the endoplasmic reticulum.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys55, Lys107, Lys124, Lys140, Lys279, and Lys300

No data available for DME Specific Peptides for ABCG1 Gene

Domains for ABCG1 Gene

Gene Families for ABCG1 Gene

HGNC:
  • ABCG :ATP binding cassette transporters / subfamily G
IUPHAR :

UniProtKB/Swiss-Prot:

ABCG1_HUMAN
Domain:
  • Contains 1 ABC transmembrane type-2 domain.:
    • P45844
  • Contains 1 ABC transporter domain.:
    • P45844
Family:
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.:
    • P45844
genes like me logo Genes that share domains with ABCG1: view

Function for ABCG1 Gene

Molecular function for ABCG1 Gene

GENATLAS Biochemistry: ATP-binding cassette superfamily,subfamily G (WHITE),member 1,homolog of Drosophila White (W),expresed in cholesterol-laden macrophages,localized at the cell surface or in intracellular compartments,regulated by cholesterol uptake or HDL-mediated lipid release,potentially involved in macrophage lipid homeostasis
UniProtKB/Swiss-Prot Function: Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages
UniProtKB/Swiss-Prot Induction: Strongly induced in monocyte-derived macrophages during cholesterol influx. Conversely, mRNA and protein expression are suppressed by lipid efflux. Induction is mediated by the liver X receptor/retinoid X receptor (LXR/RXR) pathway. Not induced by bacterial lipopolysaccharides (LPS). Repressed by ZNF202.

Gene Ontology (GO) - Molecular Function for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0005515 protein binding IPI 16870176
GO:0005524 ATP binding IDA 16702602
GO:0005525 GTP binding --
GO:0005543 phospholipid binding IC 16702602
genes like me logo Genes that share ontologies with ABCG1: view
genes like me logo Genes that share phenotypes with ABCG1: view

Animal Models for ABCG1 Gene

MGI Knock Outs for ABCG1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ABCG1 Gene

Localization for ABCG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG1 Gene

Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly localized in the intracellular compartments mainly associated with the endoplasmic reticulum (ER) and Golgi membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCG1 Gene COMPARTMENTS Subcellular localization image for ABCG1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 5
plasma membrane 4
endosome 3
extracellular 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 22042635
GO:0005768 endosome ISS --
GO:0005783 endoplasmic reticulum --
genes like me logo Genes that share ontologies with ABCG1: view

Pathways for ABCG1 Gene

genes like me logo Genes that share pathways with ABCG1: view

Pathways by source for ABCG1 Gene

Gene Ontology (GO) - Biological Process for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0006810 transport --
GO:0008203 cholesterol metabolic process IDA 15994327
GO:0009720 detection of hormone stimulus NAS 11500512
genes like me logo Genes that share ontologies with ABCG1: view

Compounds for ABCG1 Gene

(1) Drugbank Compounds for ABCG1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine triphosphate
  • 5'-ATP
56-65-5 target

(18) Novoseek inferred chemical compound relationships for ABCG1 Gene

Compound -log(P) Hits PubMed IDs
24(s),25-epoxycholesterol 85.6 1
cholesterol 80.2 161
22r-hydroxycholesterol 78.8 3
27-hydroxycholesterol 77.2 3
22-hydroxycholesterol 74.6 1
genes like me logo Genes that share compounds with ABCG1: view

Transcripts for ABCG1 Gene

Unigene Clusters for ABCG1 Gene

ATP-binding cassette, sub-family G (WHITE), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ABCG1 Gene

GeneLoc Exon Structure for
ABCG1
ECgene alternative splicing isoforms for
ABCG1

Expression for ABCG1 Gene

mRNA expression in normal human tissues for ABCG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCG1 Gene

SOURCE GeneReport for Unigene cluster for ABCG1 Gene Hs.124649

mRNA Expression by UniProt/SwissProt for ABCG1 Gene

P45844-ABCG1_HUMAN
Tissue specificity: Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease.
genes like me logo Genes that share expressions with ABCG1: view

Orthologs for ABCG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCG1 36
  • 99.5 (n)
  • 100 (a)
ABCG1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG1 36
  • 87.68 (n)
  • 95.17 (a)
ABCG1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG1 36
  • 90.25 (n)
  • 98.16 (a)
ABCG1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg1 36
  • 87.69 (n)
  • 96.85 (a)
Abcg1 16
Abcg1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG1 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg1 36
  • 87.19 (n)
  • 96.85 (a)
chicken
(Gallus gallus)
Aves ABCG1 36
  • 79.13 (n)
  • 92.64 (a)
ABCG1 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCG1 37
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496811 36
  • 77.43 (n)
  • 87.93 (a)
zebrafish
(Danio rerio)
Actinopterygii abcg1 36
  • 75.98 (n)
  • 86.19 (a)
abcg1 37
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atet 37
  • 44 (a)
ManyToMany
CG17646 37
  • 34 (a)
ManyToMany
CG3164 37
  • 46 (a)
ManyToMany
CG31689 37
  • 39 (a)
ManyToMany
CG32091 37
  • 35 (a)
ManyToMany
CG4822 37
  • 38 (a)
ManyToMany
CG5853 37
  • 40 (a)
ManyToMany
CG9663 37
  • 33 (a)
ManyToMany
w 38
  • 32 (a)
CG4822 38
  • 37 (a)
CG9663 38
  • 42 (a)
E23 38
  • 38 (a)
CG9892 38
  • 37 (a)
CG17646 38
  • 35 (a)
BEST:CK02656 38
  • 50 (a)
CG5853 38
  • 43 (a)
st 38
  • 28 (a)
Atet 38
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea wht-5 36
  • 43.62 (n)
  • 33.83 (a)
wht-7 37
  • 24 (a)
ManyToMany
F19B6.4 38
  • 29 (a)
Y47D3A.11 38
  • 27 (a)
T26A5.1 38
  • 26 (a)
F02E11.1 38
  • 30 (a)
C05D10.3 38
  • 29 (a)
C10C6.5 38
  • 27 (a)
C16C10.12 38
  • 27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 37
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons WBC27 36
  • 43.69 (n)
  • 31.96 (a)
rice
(Oryza sativa)
Liliopsida Os06g0607700 36
  • 48.49 (n)
  • 32.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 59 (a)
OneToMany
Species with no ortholog for ABCG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG1 Gene

ENSEMBL:
Gene Tree for ABCG1 (if available)
TreeFam:
Gene Tree for ABCG1 (if available)

Paralogs for ABCG1 Gene

Paralogs for ABCG1 Gene

Selected SIMAP similar genes for ABCG1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ABCG1: view

Variants for ABCG1 Gene

Sequence variations from dbSNP and Humsavar for ABCG1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs74757 -- 42,264,439(-) ATTGA(C/T)GGATG intron-variant
rs170436 -- 42,247,755(-) tgtaa(G/T)atcat intron-variant
rs170437 -- 42,258,033(+) ctcca(A/T)ccatc intron-variant
rs170438 -- 42,267,457(-) CCAGA(C/T)CCAGA intron-variant
rs170439 -- 42,267,537(-) AGACA(A/G)AACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCG1 Gene

Variant ID Type Subtype PubMed ID
nsv913779 CNV Loss 21882294
dgv4746n71 CNV Loss 21882294
nsv913781 CNV Loss 21882294
nsv3531 CNV Loss 18451855
nsv510799 CNV Loss 20534489
esv2723538 CNV Deletion 23290073
nsv527022 CNV Loss 19592680
nsv459273 CNV Gain 19166990
esv2159041 CNV Deletion 18987734
esv2723540 CNV Deletion 23290073
esv1717658 CNV Deletion 17803354
nsv913783 CNV Loss 21882294
nsv913784 CNV Loss 21882294
dgv4747n71 CNV Loss 21882294
nsv913787 CNV Loss 21882294
esv2511733 CNV Deletion 19546169
esv2723541 CNV Deletion 23290073
esv2309946 CNV Deletion 18987734
esv2723542 CNV Deletion 23290073
esv2723543 CNV Deletion 23290073
esv2723544 CNV Deletion 23290073
nsv913788 CNV Loss 21882294
dgv4748n71 CNV Loss 21882294
nsv913790 CNV Loss 21882294

Relevant External Links for ABCG1 Gene

HapMap Linkage Disequilibrium report
ABCG1
Human Gene Mutation Database (HGMD)
ABCG1

Disorders for ABCG1 Gene

(1) University of Copenhagen DISEASES for ABCG1 Gene

(6) Novoseek inferred disease relationships for ABCG1 Gene

Disease -log(P) Hits PubMed IDs
tangier disease 65.5 3
atherosclerosis 60.6 11
atherosclerotic plaque 44.6 3
cardiovascular diseases 29.8 2
inflammation 14.1 1

Relevant External Links for ABCG1

Genetic Association Database (GAD)
ABCG1
Human Genome Epidemiology (HuGE) Navigator
ABCG1
genes like me logo Genes that share disorders with ABCG1: view

No data available for UniProtKB/Swiss-Prot for ABCG1 Gene

Publications for ABCG1 Gene

  1. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. (PMID: 10639163) Klucken J. … Schmitz G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  2. Human white/murine ABC8 mRNA levels are highly induced in lipid- loaded macrophages. A transcriptional role for specific oxysterols. (PMID: 10799558) Venkateswaran A. … Edwards P.A. (J. Biol. Chem. 2000) 3 4 23
  3. Role of ABCG1 and other ABCG family members in lipid metabolism. (PMID: 11590207) Schmitz G. … Heimerl S. (J. Lipid Res. 2001) 3 4 23
  4. Genomic sequence and structure of the human ABCG1 (ABC8) gene. (PMID: 11162488) Lorkowski S. … Cullen P. (Biochem. Biophys. Res. Commun. 2001) 3 4 23
  5. The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux. (PMID: 11279031) Porsch-Oezcueruemez M. … Schmitz G. (J. Biol. Chem. 2001) 3 4 23

Products for ABCG1 Gene

Sources for ABCG1 Gene

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