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FLASH GENE

Symbol

ABCB1

contributors: mct - updated : 07-09-2021

HGNC name	ATP-binding cassette, sub-family B (MDR/TAP), member 1
HGNC id	40

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	210.28 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

P-glycoprotein with a Y-box sequence 5' - CTGATTGG - 3' in its cis-regulatory elements

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000927 29 - 4872 NP_000918 141 1280 - 2007 17954267 NM_001348944 30 - 5387 NP_001335873 - 1281 - 2007 17954267 NM_001348945 32 - 5586 NP_001335874 - 1350 - 2007 17954267 NM_001348946 28 - 5205 NP_001335875 - 1280 - 2007 17954267

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine         liver         Endocrine adrenal gland       predominantly Nervous brain           nerve       highly Reproductive female system uterus     moderately   male system testis     moderately Homo sapiens Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	neural stem, progenitor cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two ATP binding and two transmembrane (2TM) domains (2 x 6 segments)
	two hydrophobic and hydrophilic domains linked by a highly charged region of approximately 90 AAs, the "linker domain" mediating protein interactions
	lipid translocase of broad specificity

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus Abcb1a (87.6 pc)
	homolog to murine Abcb1a (87.5 pc)

Homologene

FAMILY	ABC (ATP binding cassette) transporter superfamily
	multidrug resistance exporter (TC 3.A.1.201) subfamily
	subfamily B (MDR/TAP)

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	ABC transporter, traffic ATPase, emergy-dependent efflux pump responsible for decreased drug accumulation in multidrug resistant cells
	potentially implicated in cholesterol transport
	may maintain neural stem/progenitor cells in an undifferentiated state and could be a neural stem/progenitor marker
	cause multidrug resistance in tumor cell lines selected with lipophilic anticancer drugs
	drug efflux transporter expressed in various tissues and playing an important role in the absorption and elimination of many drugs and xenobiotics
	is involved in BTB (blood–testis barrier) restructuring during spermatogenesis but ABCB1–mediated restructuring does not “open up” the BTB to make it freely permeable to drugs
	innate immune inflammatory response in the trabecular meshwork (TM) may play a role in the ABCB1 detoxification of potentially harmful constituents in the aqueous humor (pMID: 25802484)
	important and selective elements of the blood-brain barrier (BBB), that actively contribute to brain homeostasis
	ABCB1 is involved in neo-absorbed vitamin D efflux by the enterocytes and it also contributes to vitamin D transintestinal excretion and likely impacts vitamin D status
	is an ATP-dependent drug efflux pump which exports endo- and exogenous substances outside the cell

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	cholesterol transport

PATHWAY

metabolism

signaling

a component

ABCB1 and an integrated component of the occludin/zonula occludens 1 (TJP1) adhesion complex at the BTB, structurally interacted with PTK2, creating the OCLN/TJP1/PTK2/ABCB1 regulatory complex

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	APEX1 stably interacts with Y-box-binding protein 1 (YBX1), and acts as its coactivator for the expression of multidrug resistance gene ABCB1, thereby causing drug resistance
	involved in regulating BTB dynamics, likely via its interaction with PTK2, which modulates the phosphorylation status of the OCLN/TJP1 protein complex
	PPP2R3C negatively regulates ABCB1 expression and function
	ABCB1 functional activity is affected by TLR4 agonists suggesting that modulation of TLR4 is important in ABCB1 function
	crucial role of ABCB1 in the APP transport and oxidative stress may interfere with this process

cell & other

REGULATION

activated by

function can be stimulated in the presence of cholesterol

induced by

THRA, THRB (induces ABCB1 gene expression in a thyroid hormone (TH)-dependent manner)

Other

upregulated by P/CAF : NFY heterodimer

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     amplified in sarcoma cell lines tumoral     --over   in acute myeloid leukemia and cancer cell lines tumoral     --low   low ABCB1/low BAALC expression identifies a subgroup of intermediate cytogenetic risk AML patients with a remarkably good long-term outcome achieved by chemotherapy alone tumoral     --low   in breast tumors was associated with triple-negative subtype tumoral     --low   may promote colorectal carcinogenesis through increasing intracellular exposure to carcinogenic ABCB1 substrates

Susceptibility

to inflammatory bowel disease(IBD) to renal epithelial tumors

Variant & Polymorphism other	Ala893 increases the risk of IBD
	C3435T increases the risk of renal tumors

Candidate gene
Marker	EPS8, as ABCB1 and WT1, may be a clinically valuable biomarker for assessing the outcome of acute lymphoblastic leukemia (ALL) patients
Therapy target

ANIMAL & CELL MODELS