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Aliases for ABCG1 Gene

Aliases for ABCG1 Gene

  • ATP Binding Cassette Subfamily G Member 1 2 3 5
  • ATP-Binding Cassette Transporter 8 2 3 4
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 1 2 3
  • ABC8 3 4
  • 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
  • WHITE1 3
  • WHT1 4

External Ids for ABCG1 Gene

Previous GeneCards Identifiers for ABCG1 Gene

  • GC21P040187
  • GC21P042514
  • GC21P042533
  • GC21P042496
  • GC21P042492
  • GC21P043619
  • GC21P029038

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 Subfamily G Member 1) is a Protein Coding gene. Diseases associated with ABCG1 include Tangier Disease and Autosomal Recessive Nonsyndromic Deafness. Among its related pathways are Metabolism and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is ABCG4.

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

Regulatory Elements for ABCG1 Gene

Enhancers for ABCG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F042226 1.8 FANTOM5 Ensembl ENCODE 35.2 +33.3 33282 13.7 MLX CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 PRDM15 WDR4 U2AF1 ABCG1 ENSG00000233754 UMODL1 ZBTB21 TFF2 ENSG00000235772 C2CD2
GH21F042218 1.3 FANTOM5 ENCODE 22.6 +21.1 21080 3.8 PKNOX1 SIN3A ZBTB40 GLIS2 SCRT2 ZNF362 CEBPB ZNF592 MIER3 ATF4 ABCG1 TFF2 ZBTB21 UMODL1 RNA5SP492
GH21F042457 1.7 FANTOM5 Ensembl ENCODE 11.1 +264.5 264453 13.2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF143 FOS SLC37A1 RSPH1 LOC101930094 ABCG1 PRDM15 TFF2 ENSG00000235772 WDR4 ZBTB21 UMODL1
GH21F042266 1.2 FANTOM5 Ensembl ENCODE 15 +68.7 68712 3.2 ZNF263 CTCF PKNOX1 ZNF837 ZNF175 ZNF592 POLR2A ZNF207 ZNF524 ZBTB33 ABCG1 TFF3 TFF2 ENSG00000235772 WDR4 UMODL1 ZBTB21 C2CD2 GC21P042292 GC21M042234
GH21F042169 1.2 Ensembl ENCODE 13.4 -28.8 -28822 2.7 PKNOX1 ATF1 MLX ARID4B SP5 ZHX2 PPARG KAT8 NFIL3 MIER3 ABCG1 TFF3 UMODL1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCG1 Gene

Chromosome:
21
Start:
42,199,689 bp from pter
End:
42,304,387 bp from pter
Size:
104,699 bases
Orientation:
Plus strand

Genomic View for ABCG1 Gene

Genes around ABCG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ABCG1 Gene

  • Palmitoylation at Cys-315 seems important for trafficking from the endoplasmic reticulum.
  • Ubiquitination at Lys 55, Lys 107, Lys 124, Lys 140, Lys 279, and Lys 300
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCG1 Gene

Domains & Families for ABCG1 Gene

Gene Families for ABCG1 Gene

Suggested Antigen Peptide Sequences for ABCG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P45844

UniProtKB/Swiss-Prot:

ABCG1_HUMAN :
  • Contains 1 ABC transmembrane type-2 domain.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Domain:
  • Contains 1 ABC transmembrane type-2 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
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:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA,IDA 16702602
GO:0005543 phospholipid binding IC 16702602
GO:0005548 phospholipid transporter activity IDA 16702602
GO:0015485 cholesterol binding IC 15994327
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCG1

miRNA for ABCG1 Gene

miRTarBase miRNAs that target ABCG1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCG1 Gene

Localization for ABCG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG1 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCG1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
golgi apparatus 5
endoplasmic reticulum 4
endosome 4
nucleus 3
extracellular 2
peroxisome 2
cytosol 1
lysosome 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 IEA --
genes like me logo Genes that share ontologies with ABCG1: view

Pathways & Interactions for ABCG1 Gene

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

Gene Ontology (GO) - Biological Process for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
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

No data available for SIGNOR curated interactions for ABCG1 Gene

Drugs & Compounds for ABCG1 Gene

(12) Drugs for ABCG1 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1791
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1080
leucovorin Approved Pharma 1089

(10) Additional Compounds for ABCG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ABCG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCG1 Gene

This gene is overexpressed in Adipocyte (47.8) and Breast (19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCG1 Gene



Protein tissue co-expression partners for ABCG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCG1 Gene:

ABCG1

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 expression patterns with ABCG1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ABCG1 Gene

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 34 35
  • 99.5 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCG1 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG1 34 35
  • 90.25 (n)
mouse
(Mus musculus)
Mammalia Abcg1 34 16 35
  • 87.69 (n)
cow
(Bos Taurus)
Mammalia ABCG1 34 35
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Abcg1 34
  • 87.19 (n)
chicken
(Gallus gallus)
Aves ABCG1 34 35
  • 79.13 (n)
lizard
(Anolis carolinensis)
Reptilia ABCG1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496811 34
  • 77.43 (n)
zebrafish
(Danio rerio)
Actinopterygii abcg1 34 35
  • 75.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atet 36 35
  • 63 (a)
BEST:CK02656 36
  • 50 (a)
CG3164 35
  • 46 (a)
ManyToMany
CG5853 36 35
  • 43 (a)
CG9663 36 35
  • 42 (a)
CG31689 35
  • 39 (a)
ManyToMany
E23 36
  • 38 (a)
CG4822 36 35
  • 37 (a)
CG9892 36
  • 37 (a)
CG17646 36 35
  • 35 (a)
CG32091 35
  • 35 (a)
ManyToMany
w 36
  • 32 (a)
st 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea wht-5 34
  • 43.62 (n)
F02E11.1 36
  • 30 (a)
C05D10.3 36
  • 29 (a)
F19B6.4 36
  • 29 (a)
C10C6.5 36
  • 27 (a)
C16C10.12 36
  • 27 (a)
Y47D3A.11 36
  • 27 (a)
T26A5.1 36
  • 26 (a)
wht-7 35
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 35
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons WBC27 34
  • 43.69 (n)
rice
(Oryza sativa)
Liliopsida Os06g0607700 34
  • 48.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
Species where no ortholog for ABCG1 was found in the sources mined by GeneCards:
  • 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

(6) 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
rs10084554 -- 42,203,171(+) ACATT(G/T)GAgaa intron-variant
rs10084555 -- 42,203,269(+) ttttc(A/G)tcttc intron-variant
rs1023156 -- 42,300,415(+) CACAT(A/G)CACAC utr-variant-3-prime
rs1036803 -- 42,292,623(-) gtatg(C/T)agtgt intron-variant
rs1036804 -- 42,292,593(-) gtggt(C/G)tgtgt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2497e59 CNV duplication 20981092
dgv7860n54 CNV loss 21841781
esv1717658 CNV deletion 17803354
esv2159041 CNV deletion 18987734
esv2309946 CNV deletion 18987734
esv2511733 CNV deletion 19546169
esv2723538 CNV deletion 23290073
esv2723540 CNV deletion 23290073
esv2723541 CNV deletion 23290073
esv2723542 CNV deletion 23290073
esv2723543 CNV deletion 23290073
esv2723544 CNV deletion 23290073
esv2762113 CNV loss 21179565
esv3557761 CNV deletion 23714750
esv3893418 CNV loss 25118596
nsv1072183 CNV deletion 25765185
nsv1124845 CNV duplication 24896259
nsv1129681 CNV tandem duplication 24896259
nsv1143259 CNV deletion 24896259
nsv1152155 CNV deletion 26484159
nsv3531 CNV deletion 18451855
nsv459273 CNV gain 19166990
nsv510799 CNV deletion 20534489
nsv527022 CNV loss 19592680
nsv587627 CNV gain 21841781
nsv953631 CNV deletion 24416366
nsv956752 CNV deletion 24416366
nsv956763 CNV deletion 24416366

Variation tolerance for ABCG1 Gene

Residual Variation Intolerance Score: 4.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCG1 Gene

Human Gene Mutation Database (HGMD)
ABCG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG1 Gene

Disorders for ABCG1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ABCG1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tangier disease
  • familial alpha-lipoprotein deficiency
autosomal recessive nonsyndromic deafness
sitosterolemia
  • beta-sitosterolemia
- elite association - COSMIC cancer census association via MalaCards
Search ABCG1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCG1

Genetic Association Database (GAD)
ABCG1
Human Genome Epidemiology (HuGE) Navigator
ABCG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCG1
genes like me logo Genes that share disorders with ABCG1: view

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

Publications for ABCG1 Gene

  1. Genotypic Effect of ABCG1 gene promoter -257T>G polymorphism on coronary artery disease severity in Japanese men. (PMID: 19556716) Furuyama S. … Saku K. (J. Atheroscler. Thromb. 2009) 3 22 46 64
  2. ABCG1 gene variants in suicidal behavior and aggression-related traits. (PMID: 17187964) Gietl A. … Rujescu D. (Eur Neuropsychopharmacol 2007) 3 22 46 64
  3. Expression and functional characterization of ABCG1 splice variant ABCG1(666). (PMID: 16870176) Engel T. … Seedorf U. (FEBS Lett. 2006) 2 3 22 64
  4. Genomic sequence and structure of the human ABCG1 (ABC8) gene. (PMID: 11162488) Lorkowski S. … Cullen P. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
  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 22 64

Products for ABCG1 Gene

Sources for ABCG1 Gene

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