ABCB1
ATP-dependent translocase ABCB1
Also known as: ABC20, CD243, CLCS, GP170, MDR1, MDR1_HUMAN, p-170, P-gp, PGY1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P08183
- Gene
- ABCB1
- Ensembl
- ENSG00000085563
- Chromosome
- 7
- Canonical length
- 1280 aa
- Protein class
- Cancer-related genes, CD markers, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1280 residues, UniProt reviewed canonical sequence.
>P08183|ABCB1
1 MDLEGDRNGG AKKKNFFKLN NKSEKDKKEK KPTVSVFSMF RYSNWLDKLY MVVGTLAAII
61 HGAGLPLMML VFGEMTDIFA NAGNLEDLMS NITNRSDIND TGFFMNLEED MTRYAYYYSG
121 IGAGVLVAAY IQVSFWCLAA GRQIHKIRKQ FFHAIMRQEI GWFDVHDVGE LNTRLTDDVS
181 KINEGIGDKI GMFFQSMATF FTGFIVGFTR GWKLTLVILA ISPVLGLSAA VWAKILSSFT
241 DKELLAYAKA GAVAEEVLAA IRTVIAFGGQ KKELERYNKN LEEAKRIGIK KAITANISIG
301 AAFLLIYASY ALAFWYGTTL VLSGEYSIGQ VLTVFFSVLI GAFSVGQASP SIEAFANARG
361 AAYEIFKIID NKPSIDSYSK SGHKPDNIKG NLEFRNVHFS YPSRKEVKIL KGLNLKVQSG
421 QTVALVGNSG CGKSTTVQLM QRLYDPTEGM VSVDGQDIRT INVRFLREII GVVSQEPVLF
481 ATTIAENIRY GRENVTMDEI EKAVKEANAY DFIMKLPHKF DTLVGERGAQ LSGGQKQRIA
541 IARALVRNPK ILLLDEATSA LDTESEAVVQ VALDKARKGR TTIVIAHRLS TVRNADVIAG
601 FDDGVIVEKG NHDELMKEKG IYFKLVTMQT AGNEVELENA ADESKSEIDA LEMSSNDSRS
661 SLIRKRSTRR SVRGSQAQDR KLSTKEALDE SIPPVSFWRI MKLNLTEWPY FVVGVFCAII
721 NGGLQPAFAI IFSKIIGVFT RIDDPETKRQ NSNLFSLLFL ALGIISFITF FLQGFTFGKA
781 GEILTKRLRY MVFRSMLRQD VSWFDDPKNT TGALTTRLAN DAAQVKGAIG SRLAVITQNI
841 ANLGTGIIIS FIYGWQLTLL LLAIVPIIAI AGVVEMKMLS GQALKDKKEL EGSGKIATEA
901 IENFRTVVSL TQEQKFEHMY AQSLQVPYRN SLRKAHIFGI TFSFTQAMMY FSYAGCFRFG
961 AYLVAHKLMS FEDVLLVFSA VVFGAMAVGQ VSSFAPDYAK AKISAAHIIM IIEKTPLIDS
1021 YSTEGLMPNT LEGNVTFGEV VFNYPTRPDI PVLQGLSLEV KKGQTLALVG SSGCGKSTVV
1081 QLLERFYDPL AGKVLLDGKE IKRLNVQWLR AHLGIVSQEP ILFDCSIAEN IAYGDNSRVV
1141 SQEEIVRAAK EANIHAFIES LPNKYSTKVG DKGTQLSGGQ KQRIAIARAL VRQPHILLLD
1201 EATSALDTES EKVVQEALDK AREGRTCIVI AHRLSTIQNA DLIVVFQNGR VKEHGTHQQL
1261 LAQKGIYFSM VSVQAGTKRQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ABCB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 96 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 96 nTPM
- small intestine: 67 nTPM
- kidney: 32 nTPM
- liver: 26 nTPM
- duodenum: 25 nTPM
- rectum: 17 nTPM
Single-cell type
- adrenal cortex cells: 748 nCPM
- hematopoietic stem cells: 640 nCPM
- enterocytes: 631 nCPM
- vascular endothelial cells: 507 nCPM
- colonocytes: 256 nCPM
- nk-cells: 217 nCPM
Immune cell
- MAIT T-cell: 27 nTPM
- NK-cell: 18 nTPM
- gdT-cell: 11 nTPM
- memory CD8 T-cell: 6.8 nTPM
- naive CD8 T-cell: 6.7 nTPM
- memory CD4 T-cell: 2.7 nTPM
Brain region
- pons: 36 nTPM
- thalamus: 35 nTPM
- medulla oblongata: 31 nTPM
- cerebral cortex: 31 nTPM
- hypothalamus: 26 nTPM
- hippocampal formation: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ABCB1.
Disease | AllUniProt
Conditions ABCB1 is implicated in, by any mechanism.
- Inflammatory bowel disease 13 (IBD13) MIM:612244
- Encephalopathy, acute transient (ENPAT) MIM:620950
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 748 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Encephalopathy, acute transient
- COLCHICINE RESISTANCE
- Idiopathic generalized epilepsy
Disease | ImmuneIEDB
Conditions an epitope on ABCB1 was assayed in.
- type 1 diabetes mellitus T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.44
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- carboxylic acid transmembrane transport
- cellular hyperosmotic salinity response
- cellular response to alkaloid
- cellular response to antibiotic
- cellular response to dexamethasone stimulus
- cellular response to estradiol stimulus
- cellular response to external biotic stimulus
- cellular response to L-glutamate
- cellular response to lipopolysaccharide
- cellular response to mycotoxin
- cellular response to tumor necrosis factor
- ceramide translocation
- circadian rhythm
- establishment of blood-brain barrier
- establishment of blood-retinal barrier
- export across plasma membrane
- female pregnancy
- G2/M transition of mitotic cell cycle
- hormone transport
- intestinal absorption
- lactation
- maintenance of blood-brain barrier
- negative regulation of sensory perception of pain
- phospholipid translocation
- placenta development
- protein localization to bicellular tight junction
- regulation of chloride transport
- regulation of intestinal absorption
- response to alcohol
- response to antineoplastic agent
- response to cadmium ion
- response to cyclosporin A
- response to glucagon
- response to glycoside
- response to hypoxia
- response to progesterone
- response to quercetin
- response to thyroxine
- response to vitamin A
- response to vitamin D
- response to xenobiotic stimulus
- stem cell proliferation
- transepithelial transport
- transmembrane transport
- transport across blood-brain barrier
- xenobiotic detoxification by transmembrane export across the plasma membrane
- xenobiotic metabolic process
- xenobiotic transport across blood-brain barrier
- cellular response to borneol
- cellular response to nonylphenol
- daunorubicin transport
- positive regulation of establishment of Sertoli cell barrier
- positive regulation of response to drug
- response to codeine
- terpenoid transport
Molecular functions
- ABC-type xenobiotic transporter activity
- ATP binding
- ATP hydrolysis activity
- ATPase-coupled transmembrane transporter activity
- carboxylic acid transmembrane transporter activity
- ceramide floppase activity
- efflux transmembrane transporter activity
- floppase activity
- phosphatidylcholine floppase activity
- phosphatidylethanolamine flippase activity
- transmembrane transporter activity
- ubiquitin protein ligase binding
- xenobiotic transmembrane transporter activity
- phosphatidylethanolamine floppase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ABC transporter-like, ATP-binding domain
- AAA+ ATPase domain
- ABC transporter type 1, transmembrane domain
- ABC transporter-like, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- ABC transporter type 1, transmembrane domain superfamily
- Type 1 protein exporter
- ABC transporter
- ABC transporter transmembrane region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ABCB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ABCB1 as an antibody target. Whether an autoantibody or antibody against ABCB1 could matter depends on whether native ABCB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ABCB1 is annotated at the cell surface, where native ABCB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ABCB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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