Human Gene ABCB1 (ENST00000622132.5_7) from GENCODE V47lift37
  Description: ATP binding cassette subfamily B member 1, transcript variant 4 (from RefSeq NM_001348946.2)
Gencode Transcript: ENST00000622132.5_7
Gencode Gene: ENSG00000085563.15_12
Transcript (Including UTRs)
   Position: hg19 chr7:87,132,333-87,230,200 Size: 97,868 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr7:87,133,559-87,229,500 Size: 95,942 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:87,132,333-87,230,200)mRNA (may differ from genome)Protein (1280 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MDR1_HUMAN
DESCRIPTION: RecName: Full=Multidrug resistance protein 1; EC=3.6.3.44; AltName: Full=ATP-binding cassette sub-family B member 1; AltName: Full=P-glycoprotein 1; AltName: CD_antigen=CD243;
FUNCTION: Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.
CATALYTIC ACTIVITY: ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out).
SUBUNIT: Interacts with PSMB5.
INTERACTION: Q86VI4:LAPTM4B; NbExp=2; IntAct=EBI-1057359, EBI-3267258; Q99496:RNF2; NbExp=2; IntAct=EBI-1057359, EBI-722416;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Expressed in liver, kidney, small intestine and brain.
POLYMORPHISM: Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment.
DISEASE: Genetic variations in ABCB1 are associated with susceptibility to inflammatory bowel disease type 13 (IBD13) [MIM:612244]. Inflammatory bowel disease is characterized by a chronic relapsing intestinal inflammation. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Crohn disease and ulcerative colitis are commonly classified as autoimmune diseases.
SIMILARITY: Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
SIMILARITY: Contains 2 ABC transmembrane type-1 domains.
SIMILARITY: Contains 2 ABC transporter domains.
SEQUENCE CAUTION: Sequence=AAM49149.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PGY1ID105.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/abcb1/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCB1";
WEB RESOURCE: Name=Wikipedia; Note=P-glycoprotein entry; URL="http://en.wikipedia.org/wiki/P-glycoprotein";
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P08183";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ABCB1
Diseases sorted by gene-association score: colchicine resistance* (987), inflammatory bowel disease 13* (680), abcb1-related altered drug metabolism* (100), inflammatory bowel disease (25), uterine sarcoma (24), ulcerative colitis (19), postural hypotension (18), paralytic ileus (18), acute non lymphoblastic leukemia (18), engraftment syndrome (17), colon adenocarcinoma (17), toxic encephalopathy (16), cholangiolocellular carcinoma (16), vaginitis (13), hepatosplenic t-cell lymphoma (13), codeine toxicity (13), ovarian cystadenocarcinoma (12), koro (12), avascular necrosis of the femoral head (11), rhabdomyosarcoma, somatic (10), crohn's disease (10), gastroparesis (10), plasmablastic lymphoma (9), microsporidiosis (9), colitis (8), headache (8), clopidogrel resistance (8), leukemia, acute lymphoblastic (8), gastrointestinal carcinoma (8), osteonecrosis (7), multicentric castleman disease (7), cannabis dependence (7), multidrug-resistant tuberculosis (7), diarrhea (7), acute lymphoblastic leukemia, childhood (7), mucositis (7), hepatoblastoma (6), hematologic cancer (6), lung cancer (6), brain cancer (6), colorectal cancer (6), myxosarcoma (6), soft tissue sarcoma (6), cervix carcinoma (5), sensory peripheral neuropathy (5), myeloid leukemia (5), ovarian cancer, somatic (5), acute leukemia (4), cutaneous solitary mastocytoma (4), multiple myeloma (3), stomach cancer (3), breast cancer (3), leukemia, chronic myeloid, somatic (3), hepatocellular carcinoma (2), chronic lymphocytic leukemia (2), acute lymphocytic leukemia (2), renal cell carcinoma (2), osteosarcoma, somatic (2), cystic fibrosis (2), adamantinoma of long bones (2), childhood absence epilepsy (1), leukemia, acute promyelocytic, somatic (1), lymphoma, non-hodgkin (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.20136-0.281 Picture PostScript Text
3' UTR -234.401226-0.191 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR017940 - ABC_transporter_type1
IPR001140 - ABC_transptr_TM_dom
IPR011527 - ABC_transptrTM_dom_typ1

Pfam Domains:
PF00005 - ABC transporter
PF00664 - ABC transporter transmembrane region
PF09818 - Predicted ATPase of the ABC class

SCOP Domains:
51261 - Duplicated hybrid motif
75217 - alpha/beta knot
52540 - P-loop containing nucleoside triphosphate hydrolases
52980 - Restriction endonuclease-like
102645 - CoaB-like
53795 - PEP carboxykinase-like
90123 - ABC transporter transmembrane region
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on P08183
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008559 xenobiotic-transporting ATPase activity
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0090554 phosphatidylcholine-translocating ATPase activity
GO:0090555 phosphatidylethanolamine-translocating ATPase activity
GO:0099038 ceramide-translocating ATPase activity

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006855 drug transmembrane transport
GO:0042493 response to drug
GO:0042908 xenobiotic transport
GO:0045332 phospholipid translocation
GO:0047484 regulation of response to osmotic stress
GO:0055085 transmembrane transport
GO:0072089 stem cell proliferation
GO:0099040 ceramide translocation
GO:1901529 positive regulation of anion channel activity
GO:2001225 regulation of chloride transport

Cellular Component:
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC130424 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1, mRNA (cDNA clone MGC:163296 IMAGE:40146455), complete cds.
E02326 - Multidrug resistance relating gene derived from human normal cells.
AK290159 - Homo sapiens cDNA FLJ77525 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.
LF383943 - JP 2014500723-A/191446: Polycomb-Associated Non-Coding RNAs.
AB208970 - Homo sapiens mRNA for Multidrug resistance protein 1 variant protein.
M14758 - Homo sapiens P-glycoprotein (PGY1) mRNA, complete cds.
AF016535 - Homo sapiens P-glycoprotein (mdr1) mRNA, complete cds.
EU852583 - Homo sapiens multidrug resistance protein 1 mRNA, complete cds, alternatively spliced.
EU854148 - Homo sapiens multidrug resistance protein 1 mRNA, complete cds, alternatively spliced.
AM393352 - Synthetic construct Homo sapiens clone IMAGE:100002244 for hypothetical protein (ABCB1 gene).
AY425005 - Homo sapiens P-glycoprotein 1 (ABCB1) mRNA, partial cds, alternatively spliced.
AY425006 - Homo sapiens P-glycoprotein 1 (ABCB1) mRNA, partial cds, alternatively spliced.
AF345623 - Homo sapiens MES-SA/2B-E3 MDR1 mRNA, 5'UTR.
AF345624 - Homo sapiens MES-SA/VL20-4.2 MDR1 mRNA, 5'UTR.
MA619520 - JP 2018138019-A/191446: Polycomb-Associated Non-Coding RNAs.
AK308467 - Homo sapiens cDNA, FLJ98508.
JD347474 - Sequence 328498 from Patent EP1572962.
JD174758 - Sequence 155782 from Patent EP1572962.
JD502256 - Sequence 483280 from Patent EP1572962.
JD053324 - Sequence 34348 from Patent EP1572962.
LF357660 - JP 2014500723-A/165163: Polycomb-Associated Non-Coding RNAs.
MA593237 - JP 2018138019-A/165163: Polycomb-Associated Non-Coding RNAs.
LF357654 - JP 2014500723-A/165157: Polycomb-Associated Non-Coding RNAs.
LF357653 - JP 2014500723-A/165156: Polycomb-Associated Non-Coding RNAs.
LF357652 - JP 2014500723-A/165155: Polycomb-Associated Non-Coding RNAs.
LF357651 - JP 2014500723-A/165154: Polycomb-Associated Non-Coding RNAs.
LF357648 - JP 2014500723-A/165151: Polycomb-Associated Non-Coding RNAs.
LF357646 - JP 2014500723-A/165149: Polycomb-Associated Non-Coding RNAs.
LF357645 - JP 2014500723-A/165148: Polycomb-Associated Non-Coding RNAs.
LF357641 - JP 2014500723-A/165144: Polycomb-Associated Non-Coding RNAs.
LF357636 - JP 2014500723-A/165139: Polycomb-Associated Non-Coding RNAs.
LF357635 - JP 2014500723-A/165138: Polycomb-Associated Non-Coding RNAs.
JD508535 - Sequence 489559 from Patent EP1572962.
MA593231 - JP 2018138019-A/165157: Polycomb-Associated Non-Coding RNAs.
MA593230 - JP 2018138019-A/165156: Polycomb-Associated Non-Coding RNAs.
MA593229 - JP 2018138019-A/165155: Polycomb-Associated Non-Coding RNAs.
MA593228 - JP 2018138019-A/165154: Polycomb-Associated Non-Coding RNAs.
MA593225 - JP 2018138019-A/165151: Polycomb-Associated Non-Coding RNAs.
MA593223 - JP 2018138019-A/165149: Polycomb-Associated Non-Coding RNAs.
MA593222 - JP 2018138019-A/165148: Polycomb-Associated Non-Coding RNAs.
MA593218 - JP 2018138019-A/165144: Polycomb-Associated Non-Coding RNAs.
MA593213 - JP 2018138019-A/165139: Polycomb-Associated Non-Coding RNAs.
MA593212 - JP 2018138019-A/165138: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mrpPathway - Multi-Drug Resistance Factors
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity
h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system

Reactome (by CSHL, EBI, and GO)

Protein P08183 (Reactome details) participates in the following event(s):

R-HSA-2161538 abacavir [cytosol] + ATP + H2O => abacavir[extracellular] + ADP + phosphate
R-HSA-1467457 ABCA8,B1,B5 transport xenobiotics from cytosol to extracellular region
R-HSA-2161517 Abacavir transmembrane transport
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-2161522 Abacavir transport and metabolism
R-HSA-382551 Transport of small molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K294, ABCB1 , B5AK60, ENST00000622132.1, ENST00000622132.2, ENST00000622132.3, ENST00000622132.4, MDR1, MDR1_HUMAN, NM_001348946, P08183, PGY1, Q12755, Q14812, uc327ubf.1, uc327ubf.2
UCSC ID: ENST00000622132.5_7
RefSeq Accession: NM_001348946.2
Protein: P08183 (aka MDR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.