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UniProtKB/Swiss-Prot entry P45844

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ABCG1_HUMAN
Primary accession number P45844
Secondary accession numbers Q86SU8 Q96L76 Q9BXK6 Q9BXK7 Q9BXK8 Q9BXK9 Q9BXL0 Q9BXL1 Q9BXL2 Q9BXL3 Q9BXL4
Integrated into Swiss-Prot on November 1, 1995
Sequence was last modified on December 5, 2001 (Sequence version 3)
Annotations were last modified on    June 16, 2009 (Entry version 99)
Name and origin of the protein
Protein name ATP-binding cassette sub-family G member 1
Synonyms ATP-binding cassette transporter 8
White protein homolog
Gene name
Name: ABCG1
Synonyms: ABC8, WHT1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
 NUCLEOTIDE SEQUENCE [MRNA] OF 3-678 (ISOFORMS 1 AND 4).
TISSUE=Retina;
PubMed=8659545 [NCBI, ExPASy, EBI, Israel, Japan]
Chen H.M., Rossier C., Lalioti M.D., Lynn A., Chakravarti A., Perrin G., Antonarakis S.E.;
"Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.";
Am. J. Hum. Genet. 59:66-75(1996).
[2]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
DOI=10.1006/geno.2000.6253; PubMed=10950923 [NCBI, ExPASy, EBI, Israel, Japan]
Berry A., Scott H.S., Kudoh J., Talior I., Korostishevsky M., Wattenhofer M., Guipponi M., Barras C., Rossier C., Shibuya K., Wang J., Kawasaki K., Asakawa S., Minoshima S., Shimizu N., Antonarakis S.E., Bonne-Tamir B.;
"Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.";
Genomics 68:22-29(2000).
[3]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND REPRESSION BY ZNF202.
DOI=10.1074/jbc.M100218200; PubMed=11279031 [NCBI, ExPASy, EBI, Israel, Japan]
Porsch-Oezcueruemez M., Langmann T., Heimerl S., Borsukova H., Kaminski W.E., Drobnik W., Honer C., Schumacher C., Schmitz G.;
"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.";
J. Biol. Chem. 276:12427-12433(2001).
[4]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2; 3; 4; 5; 6 AND 7).
DOI=10.1006/bbrc.2000.4089; PubMed=11162488 [NCBI, ExPASy, EBI, Israel, Japan]
Lorkowski S., Rust S., Engel T., Jung E., Tegelkamp K., Galinski E.A., Assmann G., Cullen P.;
"Genomic sequence and structure of the human ABCG1 (ABC8) gene.";
Biochem. Biophys. Res. Commun. 280:121-131(2001).
[5]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8), AND VARIANT LEU-668.
DOI=10.1074/jbc.M105863200; PubMed=11500512 [NCBI, ExPASy, EBI, Israel, Japan]
Kennedy M.A., Venkateswaran A., Tarr P.T., Xenarios I., Kudoh J., Shimizu N., Edwards P.A.;
"Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein.";
J. Biol. Chem. 276:39438-39447(2001).
[6]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
DOI=10.1038/35012518; PubMed=10830953 [NCBI, ExPASy, EBI, Israel, Japan]
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
"The DNA sequence of human chromosome 21.";
Nature 405:311-319(2000).
[7]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
 NUCLEOTIDE SEQUENCE [MRNA] OF 33-678.
TISSUE=Fetal brain;
DOI=10.1016/S0378-1119(96)00633-6; PubMed=9034316 [NCBI, ExPASy, EBI, Israel, Japan]
Croop J.M., Tiller G.E., Fletcher J.A., Lux M.L., Raab E., Goldenson D., Son D., Arciniegas S., Wu R.;
"Isolation and characterization of a mammalian homolog of the Drosophila white gene.";
Gene 185:77-85(1997).
[9]
 INDUCTION, AND PROBABLE FUNCTION.
DOI=10.1074/jbc.275.19.14700; PubMed=10799558 [NCBI, ExPASy, EBI, Israel, Japan]
Venkateswaran A., Repa J.J., Lobaccaro J.-M.A., Bronson A., Mangelsdorf D.J., Edwards P.A.;
"Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols.";
J. Biol. Chem. 275:14700-14707(2000).
[10]
 INDUCTION, AND PROBABLE FUNCTION.
DOI=10.1073/pnas.97.2.817; PubMed=10639163 [NCBI, ExPASy, EBI, Israel, Japan]
Klucken J., Buechler C., Orso E., Kaminski W.E., Porsch-Oezcueruemez M., Liebisch G., Kapinsky M., Diederich W., Drobnik W., Dean M., Allikmets R., Schmitz G.;
"ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport.";
Proc. Natl. Acad. Sci. U.S.A. 97:817-822(2000).
[11]
 INDUCTION.
PubMed=12032171 [NCBI, ExPASy, EBI, Israel, Japan]
Kaplan R., Gan X., Menke J.G., Wright S.D., Cai T.-Q.;
"Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway.";
J. Lipid Res. 43:952-959(2002).
[12]
 REVIEW.
PubMed=11590207 [NCBI, ExPASy, EBI, Israel, Japan]
Schmitz G., Langmann T., Heimerl S.;
"Role of ABCG1 and other ABCG family members in lipid metabolism.";
J. Lipid Res. 42:1513-1520(2001).
[13]
 DISEASE.
DOI=10.1006/bbrc.2001.4863; PubMed=11350058 [NCBI, ExPASy, EBI, Israel, Japan]
Lorkowski S., Kratz M., Wenner C., Schmidt R., Weitkamp B., Fobker M., Reinhardt J., Rauterberg J., Galinski E.A., Cullen P.;
"Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease.";
Biochem. Biophys. Res. Commun. 283:821-830(2001).
Comments
  • 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.
  • SUBUNIT: May form heterodimers with several heterologous partners of the ABCG subfamily.
  • SUBCELLULAR LOCATION: 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.
  • ALTERNATIVE PRODUCTS: 8 named isoforms [FASTA] produced by alternative splicing. Additional isoforms seem to exist.
    Name1
    Isoform IDP45844-1
    This is the isoform sequence displayed in this entry.
    Name2
    SynonymsJ
    Isoform IDP45844-2
    Features which should be applied to build the isoform sequence: VSP_000047, VSP_000051.
    Name3
    SynonymsABDE
    Isoform IDP45844-3
    Features which should be applied to build the isoform sequence: VSP_000048, VSP_000051.
    Name4
    SynonymsG
    Isoform IDP45844-4
    Features which should be applied to build the isoform sequence: VSP_000051.
    Name5
    SynonymsF
    Isoform IDP45844-5
    Features which should be applied to build the isoform sequence: VSP_000049, VSP_000051.
    Name6
    SynonymsHI
    Isoform IDP45844-6
    Features which should be applied to build the isoform sequence: VSP_000046, VSP_000051.
    Name7
    SynonymsC
    Isoform IDP45844-7
    Features which should be applied to build the isoform sequence: VSP_000050, VSP_000051.
    Name8
    Isoform IDP45844-8
    Features which should be applied to build the isoform sequence: VSP_010718.
  • TISSUE SPECIFICITY: Expressed in several tissues.
  • 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.
  • DISEASE: Overexpressed in macrophages from patients with Tangier disease compared to control macrophages. Expressed in foamy macrophages within the atherosclerotic plaque. May play a role in the cholesterol metabolism of macrophages in vitro and in the atherosclerotic plaque.
  • SIMILARITY: Belongs to the ABC transporter family. ABCG (White) subfamily.
  • SIMILARITY: Contains 1 ABC transmembrane type-2 domain.
  • SIMILARITY: Contains 1 ABC transporter domain.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
X91249; CAA62631.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB038161; BAB13728.2; ALT_INIT; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289137; CAC00730.1; ALT_INIT; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289138; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289139; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289140; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289141; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289142; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289143; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289144; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289145; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289146; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289147; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289148; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289149; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289150; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ289151; CAC00730.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323658; AAK28836.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323644; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323645; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323646; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323647; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323648; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323649; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323650; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323651; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323652; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323653; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323654; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323655; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323656; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323657; AAK28836.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323664; AAK28842.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323658; AAK28833.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323640; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323645; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323646; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323647; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323648; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323649; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323650; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323651; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323652; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323653; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323654; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323655; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323656; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323657; AAK28833.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323660; AAK28838.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323663; AAK28841.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323658; AAK28835.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323642; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323645; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323646; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323647; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323648; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323649; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323650; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323651; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323652; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323653; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323654; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323655; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323656; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323657; AAK28835.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323662; AAK28840.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323658; AAK28837.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323643; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323645; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323646; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323647; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323648; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323649; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323650; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323651; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323652; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323653; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323654; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323655; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323656; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323657; AAK28837.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323658; AAK28834.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323645; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323646; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323647; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323648; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323649; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323650; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323651; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323652; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323653; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323654; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323655; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323656; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323657; AAK28834.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF323661; AAK28839.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY048757; AAL06598.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AP001746; BAA95530.1; ALT_INIT; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC029158; AAH29158.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U34919; AAC51098.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00024089; -.
IPI00220758; -.
IPI00220759; -.
IPI00220760; -.
IPI00220762; -.
IPI00333761; -.
IPI00335646; -.
IPI00414196; -.
RefSeq NP_004906.3; -.
NP_058198.2; -.
NP_997057.1; -.
NP_997510.1; -.
NP_997511.1; -.
NP_997512.1; -.
UniGene Hs.124649
3D structure databases
ModBase P45844.
Enzyme and pathway databases
Reactome REACT_602; Lipid and lipoprotein metabolism.
Organism-specific databases
GeneCards GC21P042492; -.
H-InvDB HIX0016136; -.
HGNC HGNC:73; ABCG1.
GenAtlas ABCG1.
MIM 603076; gene. [NCBI / EBI]
PharmGKB PA24408; -.
Gene expression databases
ArrayExpress P45844; -.
Bgee P45844; -.
GermOnline ENSG00000160179; Homo sapiens.
Ontologies
GO
GO:0005789; Cellular component: endoplasmic reticulum membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005768; Cellular component: endosome (inferred from sequence or structural similarity from UniProtKB).
GO:0000139; Cellular component: Golgi membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005887; Cellular component: integral to plasma membrane (inferred by curator from UniProtKB).
GO:0043531; Molecular function: ADP binding (inferred from direct assay from UniProtKB).
GO:0005524; Molecular function: ATP binding (inferred from direct assay from UniProtKB).
GO:0015485; Molecular function: cholesterol binding (inferred by curator from UniProtKB).
GO:0017127; Molecular function: cholesterol transporter activity (inferred from direct assay from UniProtKB).
GO:0034437; Molecular function: glycoprotein transporter activity (inferred from direct assay from UniProtKB).
GO:0005543; Molecular function: phospholipid binding (inferred by curator from UniProtKB).
GO:0005548; Molecular function: phospholipid transporter activity (inferred from direct assay from UniProtKB).
GO:0046982; Molecular function: protein heterodimerization activity (inferred from physical interaction from UniProtKB).
GO:0042803; Molecular function: protein homodimerization activity (inferred from direct assay from UniProtKB).
GO:0034041; Molecular function: sterol-transporting ATPase activity (inferred from direct assay from UniProtKB).
GO:0019534; Molecular function: toxin transporter activity (inferred from direct assay from UniProtKB).
GO:0042987; Biological process: amyloid precursor protein catabolic process (inferred from direct assay from UniProtKB).
GO:0033344; Biological process: cholesterol efflux (inferred from direct assay from UniProtKB).
GO:0042632; Biological process: cholesterol homeostasis (inferred from direct assay from UniProtKB).
GO:0008203; Biological process: cholesterol metabolic process (inferred from direct assay from UniProtKB).
GO:0009720; Biological process: detection of hormone stimulus (non-traceable author statement from UniProtKB).
GO:0010742; Biological process: foam cell differentiation (traceable author statement from UniProtKB).
GO:0034436; Biological process: glycoprotein transport (inferred from direct assay from UniProtKB).
GO:0032367; Biological process: intracellular cholesterol transport (inferred from mutant phenotype from UniProtKB).
GO:0033700; Biological process: phospholipid efflux (inferred from mutant phenotype from UniProtKB).
GO:0055091; Biological process: phospholipid homeostasis (inferred from mutant phenotype from UniProtKB).
GO:0045542; Biological process: positive regulation of cholesterol biosynthetic process (inferred from sequence or structural similarity from UniProtKB).
GO:0010884; Biological process: positive regulation of lipid storage (traceable author statement from UniProtKB).
GO:0045449; Biological process: regulation of transcription (inferred from sequence or structural similarity from UniProtKB).
GO:0010033; Biological process: response to organic substance (inferred from direct assay from UniProtKB).
GO:0043691; Biological process: reverse cholesterol transport (inferred from sequence or structural similarity from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR013525; ABC_2_trans.
IPR003439; ABC_transporter-like.
IPR017871; ABC_transporter_CS.
IPR003593; ATPase_AAA+_core.
IPR005284; Pigment_permease.
Graphical view of domain structure.
Pfam PF01061; ABC2_membrane; 1.
PF00005; ABC_tran; 1.
Pfam graphical view of domain structure.
ProDom PD000006; ABC_transporter; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00382; AAA; 1.
SMART graphical view of domain structure.
TIGRFAMs TIGR00955; 3a01204; 1.
PROSITE PS51012; ABC_TM2; FALSE_NEG.
PS00211; ABC_TRANSPORTER_1; 1.
PS50893; ABC_TRANSPORTER_2; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE P45844; -.
Genome annotation databases
Ensembl ENSG00000160179; Homo sapiens. [Contig view]
GeneID 9619; -.
KEGG hsa:9619; -.
Phylogenomic databases
HOVERGEN P45844; -.
OMA P45844; DTIPAYL.
Other
DrugBank DB00171; Adenosine triphosphate.
NextBio 36087; -.
SOURCE ABCG1; Homo sapiens.
ProtoNet P45844.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; ATP-binding; Endoplasmic reticulum; Golgi apparatus; Lipid transport; Membrane; Nucleotide-binding; Polymorphism; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   678  678     ATP-binding cassette sub-family G member 1. PRO_0000093384
TOPO_DOM   1   426  426     Cytoplasmic (Potential). 
TRANSMEM   427   445  19     Potential. 
TOPO_DOM   446   456  11     Extracellular (Potential). 
TRANSMEM   457   477  21     Potential. 
TOPO_DOM   478   506  29     Cytoplasmic (Potential). 
TRANSMEM   507   525  19     Potential. 
TOPO_DOM   526   533  8     Extracellular (Potential). 
TRANSMEM   534   555  22     Potential. 
TOPO_DOM   556   567  12     Cytoplasmic (Potential). 
TRANSMEM   568   586  19     Potential. 
TOPO_DOM   587   649  63     Extracellular (Potential). 
TRANSMEM   650   669  20     Potential. 
TOPO_DOM   670   678  9     Cytoplasmic (Potential). 
DOMAIN   77   317  241     ABC transporter. 
DOMAIN   415   673  259     ABC transmembrane type-2. 
NP_BIND   118   125  8     ATP (Potential). 
VAR_SEQ   1    95        MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSN MEATETDLLNGHLKKVDNNLTEAQRFSSLPRRAAVNIEFR DLSYSVPEGPWWRKK -> MVRRGWSVCTAILLARLWCLVPTHTFLSEYPEAAEYPHPG WVYWLQMAVAPGHLRAWVMRNNVTTNIPSAFSGTLTHEEK AVLTVFTGTATAVHVQVAALASAKLESSVFVTDCVSCKIE NVCDSALQGKRVPMSGLQGSSIVIMPPSNRPLASAASCTW SVQVQGGPHHLGVVAISGKVLSAAHGAGRAYGWGFPG DPMEE (in isoform 8). VSP_010718
VAR_SEQ   1    22        Missing (in isoform 7). VSP_000050
VAR_SEQ   1    14        MACLMAAFSVGTAM -> MRISLPRAPERDGGVSASSLLDTVT (in isoform 2). VSP_000047
VAR_SEQ   1    14        MACLMAAFSVGTAM -> MLGTQGWTKQRKPCPQ (in isoform 3). VSP_000048
VAR_SEQ   1    14        MACLMAAFSVGTAM -> MIMRLPQPHGT (in isoform 5). VSP_000049
VAR_SEQ   1     4        Missing (in isoform 6). VSP_000046
VAR_SEQ   375   386        Missing (in isoform 2, isoform 3, isoform 4, isoform 5, isoform 6 and isoform 7). VSP_000051
VARIANT   668   668  1     F -> L. VAR_012279 
CONFLICT   38    38        S -> T (in Ref. 4; AAK28839/AAK28841). 
CONFLICT   448   448        A -> T (in Ref. 1, 4; AAK28838/AAK28839/AAK28840/AAK28841/ AAK28842 and 5; AAL06598). 
CONFLICT   533   533        R -> A (in Ref. 8; AAC51098). 
Sequence information
Length: 678 AA [This is the length of the unprocessed precursor] Molecular weight: 75592 Da [This is the MW of the unprocessed precursor] CRC64: B901CABDA6C19E09 [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MACLMAAFSV GTAMNASSYS AEMTEPKSVC VSVDEVVSSN MEATETDLLN GHLKKVDNNL 

        70         80         90        100        110        120 
TEAQRFSSLP RRAAVNIEFR DLSYSVPEGP WWRKKGYKTL LKGISGKFNS GELVAIMGPS 

       130        140        150        160        170        180 
GAGKSTLMNI LAGYRETGMK GAVLINGLPR DLRCFRKVSC YIMQDDMLLP HLTVQEAMMV 

       190        200        210        220        230        240 
SAHLKLQEKD EGRREMVKEI LTALGLLSCA NTRTGSLSGG QRKRLAIALE LVNNPPVMFF 

       250        260        270        280        290        300 
DEPTSGLDSA SCFQVVSLMK GLAQGGRSII CTIHQPSAKL FELFDQLYVL SQGQCVYRGK 

       310        320        330        340        350        360 
VCNLVPYLRD LGLNCPTYHN PADFVMEVAS GEYGDQNSRL VRAVREGMCD SDHKRDLGGD 

       370        380        390        400        410        420 
AEVNPFLWHR PSEEVKQTKR LKGLRKDSSS MEGCHSFSAS CLTQFCILFK RTFLSIMRDS 

       430        440        450        460        470        480 
VLTHLRITSH IGIGLLIGLL YLGIGNEAKK VLSNSGFLFF SMLFLMFAAL MPTVLTFPLE 

       490        500        510        520        530        540 
MGVFLREHLN YWYSLKAYYL AKTMADVPFQ IMFPVAYCSI VYWMTSQPSD AVRFVLFAAL 

       550        560        570        580        590        600 
GTMTSLVAQS LGLLIGAAST SLQVATFVGP VTAIPVLLFS GFFVSFDTIP TYLQWMSYIS 

       610        620        630        640        650        660 
YVRYGFEGVI LSIYGLDRED LHCDIDETCH FQKSEAILRE LDVENAKLYL DFIVLGIFFI 

       670 
SLRLIAYFVL RYKIRAER
P45844 in FASTA format

View entry in raw text format (no links)
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