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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]
ABCB1 (ATP Binding Cassette Subfamily B Member 1) is a Protein Coding gene. Diseases associated with ABCB1 include Colchicine Resistance and Inflammatory Bowel Disease 13. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB4.
ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005215 | transporter activity | TAS | 3022150 |
GO:0005515 | protein binding | IPI | 17088979 |
GO:0005524 | ATP binding | IDA | 28757552 |
GO:0008559 | xenobiotic transmembrane transporting ATPase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | IDA | 19384922 |
GO:0016020 | membrane | IDA | 26006083 |
GO:0016021 | integral component of membrane | TAS,IEA | -- |
GO:0016324 | apical plasma membrane | IDA | 8898203 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | IDA | 19384922 |
GO:0042493 | response to drug | TAS | 3022150 |
GO:0045332 | phospholipid translocation | IDA | 8898203 |
GO:0047484 | regulation of response to osmotic stress | IMP | 7828597 |
GO:0055085 | transmembrane transport | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Colchicine | Approved | Pharma | Antagonist, Transporter, substrate, inducer, binder | Tubulin Inhibitor | 157 | |
Tacrolimus | Approved, Investigational | Pharma | Transporter, substrate, inhibitor, inducer | 1281 | ||
Atazanavir | Approved, Investigational | Pharma | Transporter, substrate, inhibitor, inducer | HIV protease inhibitor,highly potent | 0 | |
Cisplatin | Approved | Pharma | Transporter, substrate | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | |
Daunorubicin | Approved | Pharma | Transporter, substrate, inhibitor, inducer | DNA topoisomerase II inhibitor | 383 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-Hydroxychlorpropamide |
|
36892-36-1 |
|
|||
3',4'-Dihydrodiol |
|
|
||||
4-Hydroxycyclophosphamide |
|
40277-05-2 | ||||
4'-Hydroxydiclofenac |
|
64118-84-9 | ||||
5-Hydroxyomeprazole |
|
Compound | Action | Cas Number |
---|---|---|
Fumitremorgin C | Inhibitor of BCRP-mediated multidrug resistance | 118974-02-0 |
Ko 143 | Potent and selective BCRP inhibitor | 461054-93-3 |
Pyrimethamine | Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor | 58-14-0 |
Compound | Action | Cas Number |
---|---|---|
Colchicine | Tubulin Inhibitor | 64-86-8 |
CP 100356 hydrochloride | 142715-48-8 | |
Dofequidar fumarate | MDR reversal agent | 153653-30-6 |
Elacridar | BCRP inhibitor | 143664-11-3 |
Elacridar hydrochloride | BCRP and P-GP inhibitor | 143851-98-3 |
Fumitremorgin C | 118974-02-0 | |
KS 176 | 1253452-78-6 | |
LY335979 (Zosuquidar 3HCL) | Pgp (P-glycoprotein) inhibitor | 167465-36-3 |
Posaconazole | Sterol C14ɑ demethylase inhibitor | 171228-49-2 |
Reversan | 313397-13-6 | |
Tariquidar | P-glycoprotein inhibitor,potent and non-competitive | 206873-63-4 |
Tariquidar methanesulfonate, hydrate | P-glycoprotein inhibitor, potent and selective | 625375-83-9 |
Valspodar | P-glycoprotein inhibitor | 121584-18-7 |
Vinblastine sulfate | Anti-mitotic agent | 143-67-9 |
Zosuquidar | MDR modulator | 167354-41-8 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MDR1 31 |
|
OneToOne | |
ABCB1 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Abcb1a 30 17 31 |
|
OneToMany | |
Abcb1b 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | ABCB1 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Abcb1a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
ABCB1LB 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcb1 30 |
|
||
MGC76216 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | abcb4 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Mdr50 30 31 32 |
|
ManyToMany | |
Mdr49 31 32 |
|
ManyToMany | |||
Mdr65 31 32 |
|
ManyToMany | |||
CG10226 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | pgp-9 30 |
|
||
pgp-2 32 |
|
|
|||
pgp-1 31 32 |
|
ManyToMany | |||
pgp-4 32 |
|
|
|||
pgp-12 32 |
|
|
|||
pgp-14 32 |
|
|
|||
pgp-15 32 |
|
|
|||
pgp-5 32 |
|
|
|||
pgp-6 32 |
|
|
|||
pgp-7 32 |
|
|
|||
pgp-13 32 |
|
|
|||
pgp-11 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | STE6 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ABCB4 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1243 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0695700 30 |
|
||
Os.20120 30 |
|
||||
Corn (Zea mays) |
Liliopsida | Zm.4341 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7248 31 |
|
ManyToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07546 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pmd1 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
675797 | Benign: Tramadol response; not provided | 87,570,248(-) | C/A | INTRON_VARIANT | |
708203 | Benign: not provided | 87,566,224(-) | T/C | MISSENSE_VARIANT | |
711479 | Benign: not provided | 87,561,309(-) | T/C | MISSENSE_VARIANT | |
713099 | Likely Benign: not provided | 87,550,543(-) | G/A | SYNONYMOUS_VARIANT | |
719175 | Benign: not provided | 87,561,361(-) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11489n54 | CNV | loss | 21841781 |
esv2666273 | CNV | deletion | 23128226 |
esv2734775 | CNV | deletion | 23290073 |
esv2734776 | CNV | deletion | 23290073 |
esv28195 | CNV | loss | 19812545 |
esv3542043 | CNV | deletion | 23714750 |
esv3571956 | CNV | loss | 25503493 |
esv3614037 | CNV | loss | 21293372 |
esv7655 | CNV | loss | 19470904 |
nsv1076930 | CNV | deletion | 25765185 |
nsv1078845 | CNV | insertion | 25765185 |
nsv464622 | CNV | gain | 19166990 |
nsv464623 | CNV | gain | 19166990 |
nsv607725 | CNV | gain | 21841781 |
nsv607726 | CNV | gain | 21841781 |
nsv607728 | CNV | loss | 21841781 |
nsv981545 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
colchicine resistance |
|
|
inflammatory bowel disease 13 |
|
|
uterine sarcoma |
|
|
ulcerative colitis |
|
|
inflammatory bowel disease |
|