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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
  • 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 Lipoprotein metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and GTP 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

Regulatory Elements for ABCG1 Gene

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

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.
  • Ubiquitination at Lys 55, Lys 107, Lys 124, Lys 140, Lys 279, and Lys 300
  • Modification sites at PhosphoSitePlus

Antibody Products

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:0005515 protein binding IPI 16870176
GO:0005548 phospholipid transporter activity IDA 16702602
GO:0017127 cholesterol transporter activity TAS --
GO:0019534 toxin transporter activity IDA 17408620
GO:0046983 protein dimerization activity NAS 11500512
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:

miRNA for ABCG1 Gene

miRTarBase miRNAs that target ABCG1

Inhibitory RNA Products

In Situ Assay Products

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

Gene Ontology (GO) - Cellular Components for ABCG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22042635
GO:0005886 plasma membrane TAS --
GO:0016020 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: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
GO:0010875 positive regulation of cholesterol efflux IEA --
GO:0010888 negative regulation of lipid storage IEA --
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

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

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 1684
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1044
leucovorin Approved Pharma 952

(12) 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:

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

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



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

Protein tissue co-expression partners for ABCG1 Gene

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
ABCG1 35
  • 99.5 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ABCG1 36
  • 95 (a)
OneToOne
ABCG1 35
  • 87.68 (n)
  • 95.17 (a)
dog
(Canis familiaris)
Mammalia ABCG1 35
  • 90.25 (n)
  • 98.16 (a)
ABCG1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg1 16
Abcg1 36
  • 97 (a)
OneToOne
Abcg1 35
  • 87.69 (n)
  • 96.85 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCG1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg1 35
  • 87.19 (n)
  • 96.85 (a)
chicken
(Gallus gallus)
Aves ABCG1 36
  • 93 (a)
OneToOne
ABCG1 35
  • 79.13 (n)
  • 92.64 (a)
lizard
(Anolis carolinensis)
Reptilia ABCG1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496811 35
  • 77.43 (n)
  • 87.93 (a)
zebrafish
(Danio rerio)
Actinopterygii abcg1 35
  • 75.98 (n)
  • 86.19 (a)
abcg1 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Atet 36
  • 44 (a)
ManyToMany
CG17646 36
  • 34 (a)
ManyToMany
CG3164 36
  • 46 (a)
ManyToMany
CG31689 36
  • 39 (a)
ManyToMany
CG32091 36
  • 35 (a)
ManyToMany
CG4822 36
  • 38 (a)
ManyToMany
CG5853 36
  • 40 (a)
ManyToMany
CG9663 36
  • 33 (a)
ManyToMany
Atet 37
  • 63 (a)
BEST:CK02656 37
  • 50 (a)
CG17646 37
  • 35 (a)
CG4822 37
  • 37 (a)
CG5853 37
  • 43 (a)
CG9663 37
  • 42 (a)
CG9892 37
  • 37 (a)
E23 37
  • 38 (a)
st 37
  • 28 (a)
w 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea wht-7 36
  • 24 (a)
ManyToMany
C05D10.3 37
  • 29 (a)
C10C6.5 37
  • 27 (a)
C16C10.12 37
  • 27 (a)
F02E11.1 37
  • 30 (a)
F19B6.4 37
  • 29 (a)
T26A5.1 37
  • 26 (a)
Y47D3A.11 37
  • 27 (a)
wht-5 35
  • 43.62 (n)
  • 33.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 36
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons WBC27 35
  • 43.69 (n)
  • 31.96 (a)
rice
(Oryza sativa)
Liliopsida Os06g0607700 35
  • 48.49 (n)
  • 32.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(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
VAR_012279 -
rs221949 -- 42,207,205(-) AGCCC(A/G)GAAGT intron-variant
rs225370 -- 42,244,681(-) CAGAC(A/C/G)ACCAC intron-variant
rs225371 -- 42,247,746(-) atgtc(C/T)ttgga intron-variant
rs225372 -- 42,248,200(-) ACGAC(A/G)GAGAT 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

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

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

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

Disorders for ABCG1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tangier disease
  • familial alpha-lipoprotein deficiency
autosomal recessive nonsyndromic deafness
  • autosomal recessive deafness
pulmonary alveolar proteinosis
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. Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. (PMID: 8659545) Chen H.M. … Antonarakis S.E. (Am. J. Hum. Genet. 1996) 2 3 4 67
  2. Expression and functional characterization of ABCG1 splice variant ABCG1(666). (PMID: 16870176) Engel T. … Seedorf U. (FEBS Lett. 2006) 2 3 23
  3. TGF-beta1 up-regulates expression of ABCA1, ABCG1 and SR-BI through liver X receptor alpha signaling pathway in THP-1 macrophage-derived foam cells. (PMID: 20057170) Hu Y.W. … Tang C.K. (J. Atheroscler. Thromb. 2010) 3 23
  4. High glucose, unsaturated and saturated fatty acids differentially regulate expression of ATP-binding cassette transporters ABCA1 and ABCG1 in human macrophages. (PMID: 19287193) Mauerer R. … Langmann T. (Exp. Mol. Med. 2009) 3 23
  5. Effects of acceptor composition and mechanism of ABCG1-mediated cellular free cholesterol efflux. (PMID: 18827283) Sankaranarayanan S. … Rothblat G.H. (J. Lipid Res. 2009) 3 23

Products for ABCG1 Gene

Sources for ABCG1 Gene

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