Gene Report

Basic Information

Approved Symbol	ABCB1
Approved Name	ATP-binding cassette, sub-family B (MDR/TAP), member 1
Previous Symbol	PGY1, MDR1, CLCS
Previous Name	"colchicin sensitivity"
Symbol Alias	P-gp, CD243, GP170, ABC20
Name Alias	"multidrug resistance protein 1"
Location	7q21.12
Position	chr7:87342477-87342639 (-)
External Links	Entrez Gene: 5243 Ensembl: ENSG00000085563 UCSC: uc003uiz.2 HGNC ID: 40
No. of Studies (Positive/Negative)	3(2/1)
Type	Literature-origin; SNP mapped

Positive relationships between ABCB1 and MDD (count: 2)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
ABCB1	Lin, 2011	patients only	P-value<0.01	The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P...... The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed significant association with the severity of depressive symptoms as assessed by the Hamilton Rating Scale for Depression adjusted with Hamilton Rating Scale for Anxiety. More...
ABCB1	Santos M, 2014	patients and normal controls		A significant protection for MDD males carrying the T allele...... A significant protection for MDD males carrying the T allele was observed (C1236T: odds ratio (OR)=0.360, 95% confidence interval [CI]: [0.140-0.950], p=0.022; C3435T: OR=0.306, 95% CI: [0.096-0.980], p=0.042; and G2677TA: OR=0.300, 95% CI: [0.100-0.870], p=0.013). Male Portuguese individuals carrying the 1236T/2677T/3435T haplotype had nearly 70% less risk of developing MDD (OR=0.313, 95% CI: [0.118-0.832], p=0.016, FDR p=0.032). More...

Positive relationships between ABCB1 and other components at different levels (count: 0)

Positive relationship network of ABCB1 in MK4MDD

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Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between ABCB1 and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
ABCB1	Crisafulli C, 2013	patients and normal controls		No association with mood disorders and clinical outcomes was...... No association with mood disorders and clinical outcomes was observed More...

Negative relationships between ABCB1 and other components at different levels (count: 0)

ABCB1 related SNPs in MK4MDD (count: 1)

#rs	Location	Annotation	No. of Studies (Positive/Negative)
rs1045642	chr7:87509329(Forward)		1(1/0)

ABCB1 related proteins in MK4MDD (count: 0)

ABCB1 related GO terms (count: 25)

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0070062	extracellular exosome	cellular component	IDA[19056867\|23376485\|23533145]
GO:0009986	cell surface	cellular component	IDA[19384922]
GO:0016021	integral component of membrane	cellular component	IEA
GO:0008559	xenobiotic-transporting ATPase activity	molecular function	IEA
GO:0055085	transmembrane transport	biological process	TAS
GO:0002591	positive regulation of antigen processing and presentation of peptide antigen via MHC class I	biological process	IBA
GO:0000086	G2/M transition of mitotic cell cycle	biological process	IDA[19384922]
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0044281	small molecule metabolic process	biological process	TAS
GO:0016020	membrane	cellular component	TAS[3022150]
GO:0002485	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	biological process	IBA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0005515	protein binding	molecular function	IPI[17088979\|20711237]
GO:0002489	antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	biological process	IBA
GO:0002481	antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	biological process	IBA
GO:0072089	stem cell proliferation	biological process	IMP[19384922]
GO:0005524	ATP binding	molecular function	IEA
GO:0032553	ribonucleotide binding	molecular function	IEA
GO:0005215	transporter activity	molecular function	TAS[3022150]
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	molecular function	TAS[3022150]
GO:0005886	plasma membrane	cellular component	TAS
GO:0042493	response to drug	biological process	TAS[3022150]
GO:0006855	drug transmembrane transport	biological process	TAS
GO:0006810	transport	biological process	TAS[3022150]
GO:0042908	xenobiotic transport	biological process	IEA

ABCB1 related KEGG pathways (count: 1)

ID	Name	Brief Description	Full Description
Gene mapped KEGG pathways
hsa02010	abc transporters	ABC transporters	The ATP-binding cassette (ABC) transporters form one of the ...... The ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of a wide variety of substrates such as ions, sugars, lipids, sterols, peptides, proteins, and drugs. The structure of a prokaryotic ABC transporter usually consists of three components; typically two integral membrane proteins each having six transmembrane segments, two peripheral proteins that bind and hydrolyze ATP, and a periplasmic (or lipoprotein) substrate-binding protein. Many of the genes for the three components form operons as in fact observed in many bacterial and archaeal genomes. On the other hand, in a typical eukaryotic ABC transporter, the membrane spanning protein and the ATP-binding protein are fused, forming a multi-domain protein with the membrane-spanning domain (MSD) and the nucleotide-binding domain (NBD). More...

ABCB1 related BioCarta pathways (count: 2)

ID	Name	Brief Description	Full Description
Gene mapped BioCarta pathways
P53HYPOXIA_PATHWAY	p53hypoxia pathway	Hypoxia and p53 in the Cardiovascular system	Hypoxic stress, like DNA damage, induces p53 protein accumul...... Hypoxic stress, like DNA damage, induces p53 protein accumulation and p53-dependent apoptosis in oncogenically transformed cells. Unlike DNA damage, hypoxia does not induce p53-dependent cell cycle arrest, suggesting that p53 activity is differentially regulated by these two stresses. Hypoxia induces p53 protein accumulation, but in contrast to DNA damage, hypoxia fails to induce endogenous downstream p53 effector mRNAs and proteins, such as p21, Bax, CIP1, WAF1 etc. Hypoxia does not inhibit the induction of p53 target genes by ionizing radiation, indicating that p53-dependent transactivation requires a DNA damage-inducible signal that is lacking under hypoxic treatment alone. The phosphatidylinositol 3-OH-kinase-Akt pathway inhibits p53-mediated transcription and apoptosis. Mdm2, a ubiquitin ligase for p53, plays a central role in regulation of the stability of p53 and serves as a good substrate for Akt. Mdm-2 targets the p53 tumor suppressor for ubiquitin-dependent degradation by the proteasome, but, in addition, the p53 transcription factor induces Mdm-2, thus, establishing a feedback loop. Hypoxia or DNA damage by abrogating binding of HIF-1 with VHL and p53 with Mdm-2, respectively, leads to stabilization and accumulation transcriptionally active HIF-1 and p53. At the molecular level, DNA damage induces the interaction of p53 with the transcriptional activator p300 as well as with the transcriptional corepressor mSin3A. In contrast, hypoxia primarily induces an interaction of p53 with mSin3A, but not with p300. More...
NUCLEARRS_PATHWAY	nuclearrs pathway	Nuclear Receptors in Lipid Metabolism and Toxicity	Nuclear receptors are transcription factors that are activat...... Nuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. However, further studies have led to the identification of lipid ligands for some of these adopted orphan receptors, which are responsible for lipid metabolism, storage or elimination. One of the characteristics of these receptors is that they act by forming heterodimers with retinoid X receptor (RXR). The receptors include peroxisome proliferators-Activated receptors (PPARs) for fatty acids, liver X receptor (LCR) for oxysterols, Farnesoid X receptors (FXR) for bile acids and steroid xenobiotic receptor/X receptor (SXR/PXR or Nsil2) for xenobiotics. Other orphan receptors also require RXR for its functions are vitamin D receptor (VDR) for vitamin D and retinoic acid receptor (RAR) for retinoid acids, although these receptors are not involved in lipid metabolism. Upon binding to various ligands, three classes of proteins are synthesized including lipid binding proteins, the ATP-binding cassette (ABC) transporters and cytochrome P450 member proteins which catalyzes lipid anabolism, metabolism and elimination. In addition to lipid metabolism, some members of the cytochrome P450 family genes are responsible for activation of procarcinogens, detoxification of environmental toxins and metabolism of drugs and xenobiotics. In particular, CAR, Nsil2 and recently identified VDR are important in up-regulation of these cytochromes. Of all the human cytochrome P450 genes, only a few CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP2E1 and CYP3A4 account for most toxicity effects, specifically CYP3A is responsible for clearing approximately half of the clinically prescribed drugs. For instance, acetaminophen, one of the most commonly used drug, is toxic in high doses due to the activation of CAR and the drugs subsequentconversion to acetyl-p-benzoquinone imine (NAPQI) by CYP1A2, CYP2E1 and CYP3A. More...

ABCB1 related Reactome pathways (count: 0)

ABCB1 related interactors from protein-protein interaction data in HPRD (count: 3)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
ABCB1	HAX1	No	in vivo;yeast 2-hybrid	15159385
ABCB1	RNF2	No	in vivo;yeast 2-hybrid	17088979
ABCB1	CAV1	No	in vivo	15498565

Gene Report

Gene mapped GO terms

Gene mapped KEGG pathways

Gene mapped BioCarta pathways