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 choleste... See more...

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
  • ATP-Binding Cassette Sub-Family G Member 1 3 4
  • ABC8 3 4
  • White Protein Homolog (ATP-Binding Cassette Transporter 8) 3
  • ATP-Binding Cassette Transporter Member 1 Of Subfamily G 3
  • Homolog Of Drosophila White 3
  • White Protein Homolog 4
  • ABC Transporter 8 3
  • EC 7.6.2.- 4
  • 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 Sitosterolemia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Nuclear Receptors in Lipid Metabolism and Toxicity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is ABCG4.

UniProtKB/Swiss-Prot Summary for ABCG1 Gene

  • Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). 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. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620).

Gene Wiki entry for ABCG1 Gene

Additional gene information for ABCG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCG1 Gene

Genomics for ABCG1 Gene

GeneHancer (GH) Regulatory Elements for ABCG1 Gene

Promoters and enhancers for ABCG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J042218 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 772.6 +21.0 20954 4.1 ZBTB6 POLR2A ZNF362 HLF MNT NKRF SP1 ZNF384 MLLT1 SP7 ABCG1 RF00001-204 RNA5SP492 lnc-TFF3-4 TFF2 ZBTB21 UMODL1 LOC105372814
GH21J042198 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 750.6 +0.0 26 1.9 SMARCE1 POLR2A MYC ELF1 HLF CEBPB MAX SP1 BACH1 CEBPG ABCG1 piR-38051-179 PRDM15 WDR4 ENSG00000233754 U2AF1
GH21J042255 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 762 +54.8 54811 3 ZNF547 ATF7 MNT CREB1 CTCF ZBTB33 PAX8 ATF2 KDM1A ABCG1 TFF2 NDUFV3 Z38010 lnc-TFF3-3
GH21J042216 Promoter 0.4 EPDnew 750.4 +16.4 16401 0.1 ZBTB33 ABCG1 lnc-TFF3-4 piR-35674-326 LOC105372814
GH21J042197 Promoter 0.3 Ensembl 750.6 -1.8 -1788 0.6 ABCG1 HSALNG0133295
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCG1 gene promoter:
  • AhR
  • CREB
  • E47
  • Tal-1beta

Genomic Locations for ABCG1 Gene

Genomic Locations for ABCG1 Gene
chr21:42,199,689-42,304,387
(GRCh38/hg38)
Size:
104,699 bases
Orientation:
Plus strand
chr21:43,619,799-43,717,354
(GRCh37/hg19)
Size:
97,556 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:
    • Homodimer; disulfide-linked (PubMed:16702602). Homooligomer (PubMed:16702602). May form heterodimers with several heterologous partners of the ABCG subfamily. Interacts with CAV1; this interaction regulates ABCG1-mediated cholesterol efflux (PubMed:24576892).
    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 Lys55, Lys107, Lys124, Lys140, Lys279, and Lys300
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ABCG1

No data available for DME Specific Peptides for ABCG1 Gene

Domains & Families for ABCG1 Gene

Gene Families for ABCG1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for ABCG1 Gene

GenScript: Design optimal peptide antigens:
  • White protein homolog (ABCG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P45844

UniProtKB/Swiss-Prot:

ABCG1_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
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

UniProtKB/Swiss-Prot Function:
Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). 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. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=7beta-hydroxycholesterol(in) + ATP + H2O = 7beta-hydroxycholesterol(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:39795, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:42989, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39796; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) + phosphate; Xref=Rhea:RHEA:39051, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269 PubMed:16702602, ECO:0000269 PubMed:24576892}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39052; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-(acyl)-sphingosylphosphocholine(in) + ATP + H2O = ADP + an N-(acyl)-sphingosylphosphocholine(out) + H(+) + phosphate; Xref=Rhea:RHEA:46468, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64583, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46469; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + sphingomyelin(in) = ADP + H(+) + phosphate + sphingomyelin(out); Xref=Rhea:RHEA:38903, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38904; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
The cholesterol efflux is enhanced by APOA1.
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.
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

Enzyme Numbers (IUBMB) for ABCG1 Gene

Phenotypes From GWAS Catalog for ABCG1 Gene

Gene Ontology (GO) - Molecular Function for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 24576892
GO:0005524 ATP binding IEA,IDA 16702602
GO:0005543 phospholipid binding IC 16702602
GO:0005548 phospholipid transporter activity IDA,IBA 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCG1

CRISPR Products

miRNA for ABCG1 Gene

miRTarBase miRNAs that target ABCG1

Clone Products

No data available for 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. Cell membrane. 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 4
nucleus 3
endoplasmic reticulum 3
endosome 3
extracellular 2
peroxisome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005739 mitochondrion IDA 22042635
GO:0005768 endosome ISS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane 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:0006869 lipid transport IEA --
GO:0008203 cholesterol metabolic process IDA 15994327
GO:0009720 detection of hormone stimulus NAS 11500512
GO:0010033 response to organic substance IDA 11500512
GO:0010745 negative regulation of macrophage derived foam cell differentiation TAS 18490524
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved, Vet_approved Nutra Transporter 504,508
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2212
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1326
leucovorin Approved Pharma 3801,1351
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation, Target 0

(11) 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

CRISPR Products

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for ABCG1 Gene

  • Nervous system(4.7)
  • Eye(4.1)
  • Liver(2.8)
  • Blood(2.4)
  • Muscle(2.2)
  • Heart(2.1)
  • Spleen(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with ABCG1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG1 33
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG1 33
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG1 33 32
  • 90.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg1 17 33 32
  • 87.69 (n)
cow
(Bos Taurus)
Mammalia ABCG1 33 32
  • 87.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg1 32
  • 87.19 (n)
chicken
(Gallus gallus)
Aves ABCG1 33 32
  • 79.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCG1 33
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496811 32
  • 77.43 (n)
zebrafish
(Danio rerio)
Actinopterygii abcg1 33 32
  • 75.98 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK02656 34
  • 50 (a)
CG3164 33
  • 46 (a)
ManyToMany
Atet 33 34
  • 44 (a)
ManyToMany
CG5853 33 34
  • 40 (a)
ManyToMany
CG31689 33
  • 39 (a)
ManyToMany
CG4822 33 34
  • 38 (a)
ManyToMany
E23 34
  • 38 (a)
CG9892 34
  • 37 (a)
CG32091 33
  • 35 (a)
ManyToMany
CG17646 33 34
  • 34 (a)
ManyToMany
CG9663 33 34
  • 33 (a)
ManyToMany
w 34
  • 32 (a)
st 34
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea wht-5 32
  • 43.62 (n)
F02E11.1 34
  • 30 (a)
F19B6.4 34
  • 29 (a)
C05D10.3 34
  • 29 (a)
C10C6.5 34
  • 27 (a)
C16C10.12 34
  • 27 (a)
Y47D3A.11 34
  • 27 (a)
T26A5.1 34
  • 26 (a)
wht-7 33
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 33
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons WBC27 32
  • 43.69 (n)
rice
(Oryza sativa)
Liliopsida Os06g0607700 32
  • 48.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCG1: view image

Paralogs for ABCG1 Gene

Paralogs for ABCG1 Gene

(6) SIMAP similar genes for ABCG1 Gene using alignment to 4 proteins:

  • ABCG1_HUMAN
  • C9JKD9_HUMAN
  • E7ERE5_HUMAN
  • E9PGV9_HUMAN
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 Variation AA Info Type
rs1000007851 -- 42,281,900(+) T/G intron_variant
rs1000037562 -- 42,274,925(+) G/A intron_variant
rs1000047950 -- 42,202,643(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000051995 -- 42,253,386(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000058752 -- 42,220,615(+) G/A genic_upstream_transcript_variant, 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)

Additional Variant Information for ABCG1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCG1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tangier disease
  • tgd
sitosterolemia
  • stsl
platelet glycoprotein iv deficiency
  • bleeding disorder, platelet-type, 10; bdplt10
glycine n-methyltransferase deficiency
  • gnmt deficiency
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search ABCG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of atherosclerosis and thrombosis 2009) 3 23 43 56
  2. Expression of ATP binding cassette-transporter ABCG1 prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol. (PMID: 17408620) Engel T … Seedorf U (FEBS letters 2007) 3 4 23 56
  3. ABCG1 gene variants in suicidal behavior and aggression-related traits. (PMID: 17187964) Gietl A … Rujescu D (European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2007) 3 23 43 56
  4. Expression and functional characterization of ABCG1 splice variant ABCG1(666). (PMID: 16870176) Engel T … Seedorf U (FEBS letters 2006) 2 3 23 56
  5. Efflux of sphingomyelin, cholesterol, and phosphatidylcholine by ABCG1. (PMID: 16702602) Kobayashi A … Matsuo M (Journal of lipid research 2006) 3 4 23 56

Products for ABCG1 Gene

Sources for ABCG1 Gene