Version: 8.0.0Date: Tue Jan 28 2025
Gene
ABCB1
- Species
- Homo sapiens
- Symbol
- ABCB1
- Name
- ATP binding cassette subfamily B member 1
- Synonyms
- ABC20
- ATP-binding cassette sub-family B member 1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ATP binding activity; ATPase-coupled intramembrane lipid transporter activity; and ubiquitin protein ligase binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; lipid translocation; and xenobiotic detoxification by transmembrane export across the plasma membrane. Located in apical plasma membrane; cell surface; and cytoplasm. Implicated in several diseases, including carcinoma (multiple); drug dependence (multiple); human immunodeficiency virus infectious disease (multiple); inflammatory bowel disease (multiple); and leukemia (multiple). Biomarker of several diseases, including familial temporal lobe epilepsy 3; human immunodeficiency virus infectious disease; kidney cancer (multiple); nasal type extranodal NK/T-cell lymphoma; and ovarian cancer.
- RGD Description
- The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24221
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr7:87503017...87713323 - (210.31 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.