Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9619
Gene name	ATP binding cassette subfamily G member 1
Gene symbol	ABCG1
Synonyms (NCBI Gene)	ABC8WHITE1
Chromosome	21
Chromosome location	21q22.3
Summary	The 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, M

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miRTarBase ID	miRNA	Experiments	Reference
MIRT054154	hsa-miR-129-5p	ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	25344911
MIRT054154	hsa-miR-129-5p	ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	25344911
MIRT054228	hsa-miR-128-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23990020
MIRT735152	hsa-miR-320b	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)in vitro cullelar assaysqRT-PCR	33536383
MIRT735152	hsa-miR-320b	Luciferase reporter assayWestern blottingMicroarrayqRT-PCR	33536383
MIRT759196	hsa-miR-10a	CLIP-seq
MIRT759197	hsa-miR-10b	CLIP-seq
MIRT759198	hsa-miR-3140-5p	CLIP-seq
MIRT759199	hsa-miR-3973	CLIP-seq
MIRT759200	hsa-miR-4291	CLIP-seq
MIRT759201	hsa-miR-4501	CLIP-seq
MIRT759202	hsa-miR-545	CLIP-seq
MIRT759203	hsa-miR-548l	CLIP-seq
MIRT759204	hsa-miR-548m	CLIP-seq
MIRT759205	hsa-miR-1226	CLIP-seq
MIRT759206	hsa-miR-1229	CLIP-seq
MIRT759207	hsa-miR-1301	CLIP-seq
MIRT759208	hsa-miR-1913	CLIP-seq
MIRT759209	hsa-miR-3149	CLIP-seq
MIRT759210	hsa-miR-3189-5p	CLIP-seq
MIRT759211	hsa-miR-324-3p	CLIP-seq
MIRT759212	hsa-miR-342-3p	CLIP-seq
MIRT759213	hsa-miR-3915	CLIP-seq
MIRT759214	hsa-miR-3928	CLIP-seq
MIRT759215	hsa-miR-4536	CLIP-seq
MIRT759216	hsa-miR-4660	CLIP-seq
MIRT759217	hsa-miR-4684-3p	CLIP-seq
MIRT759218	hsa-miR-4727-5p	CLIP-seq
MIRT759219	hsa-miR-4733-3p	CLIP-seq
MIRT759220	hsa-miR-4758-3p	CLIP-seq
MIRT759221	hsa-miR-5047	CLIP-seq
MIRT759222	hsa-miR-568	CLIP-seq
MIRT759223	hsa-miR-671-5p	CLIP-seq
MIRT759224	hsa-miR-942	CLIP-seq
MIRT759225	hsa-miR-297	CLIP-seq
MIRT759226	hsa-miR-3686	CLIP-seq
MIRT759227	hsa-miR-4282	CLIP-seq
MIRT759215	hsa-miR-4536	CLIP-seq
MIRT759228	hsa-miR-4742-3p	CLIP-seq
MIRT759229	hsa-miR-4778-5p	CLIP-seq
MIRT759230	hsa-miR-567	CLIP-seq
MIRT1923772	hsa-miR-3163	CLIP-seq
MIRT1923773	hsa-miR-4457	CLIP-seq
MIRT1923774	hsa-miR-513b	CLIP-seq
MIRT759205	hsa-miR-1226	CLIP-seq
MIRT759207	hsa-miR-1301	CLIP-seq
MIRT759216	hsa-miR-4660	CLIP-seq
MIRT759217	hsa-miR-4684-3p	CLIP-seq
MIRT759219	hsa-miR-4733-3p	CLIP-seq
MIRT759221	hsa-miR-5047	CLIP-seq

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Transcription factor	Regulation	Reference
NR1H2	Activation	16141411
NR1H3	Activation	16141411;18580406

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 24576892, 27228027, 32296183, 32814053
GO:0005524	Function	ATP binding	IDA	16702602
GO:0005524	Function	ATP binding	IEA
GO:0005543	Function	Phospholipid binding	IC	16702602
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	22042635
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	HDA	16780588
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16702602, 24576892
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008203	Process	Cholesterol metabolic process	IDA	15994327
GO:0009897	Component	External side of plasma membrane	IDA	16556852
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	TAS	18490524
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	TAS	18490524
GO:0010888	Process	Negative regulation of lipid storage	IEA
GO:0015485	Function	Cholesterol binding	IC	15994327
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019534	Function	Toxin transmembrane transporter activity	IDA	17408620
GO:0030301	Process	Cholesterol transport	IEA
GO:0032367	Process	Intracellular cholesterol transport	IMP	15994327
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IDA	15994327
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IMP	16702602, 24576892
GO:0033700	Process	Phospholipid efflux	IMP	16702602
GO:0033993	Process	Response to lipid	IDA	16556852
GO:0034041	Function	ABC-type sterol transporter activity	IBA
GO:0034041	Function	ABC-type sterol transporter activity	IDA	17408620
GO:0034204	Process	Lipid translocation	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	IEA
GO:0034374	Process	Low-density lipoprotein particle remodeling	ISS	16556852
GO:0034375	Process	High-density lipoprotein particle remodeling	IEA
GO:0034375	Process	High-density lipoprotein particle remodeling	ISS	16556852
GO:0034436	Process	Glycoprotein transport	IDA	17293612
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	15994327
GO:0042632	Process	Cholesterol homeostasis	IEP	11500512
GO:0042803	Function	Protein homodimerization activity	IDA	16702602, 16870176
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	17293612
GO:0043531	Function	ADP binding	IDA	16702602
GO:0043691	Process	Reverse cholesterol transport	IEA
GO:0043691	Process	Reverse cholesterol transport	ISS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050714	Process	Positive regulation of protein secretion	IDA	17293612
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS	16556852
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055091	Process	Phospholipid homeostasis	IMP	16702602
GO:0071403	Process	Cellular response to high density lipoprotein particle stimulus	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	ISS	16556852
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	16702602
GO:0120020	Function	Cholesterol transfer activity	IDA	15994327
GO:0140328	Function	Floppase activity	IDA	16702602, 24576892
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1902004	Process	Positive regulation of amyloid-beta formation	IDA	17293612
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	TAS	25344911

MIM	HGNC	e!Ensembl
603076	73	ENSG00000160179

P45844

Protein name

ATP-binding cassette sub-family G member 1 (EC 7.6.2.-) (ATP-binding cassette transporter 8) (White protein homolog)

Protein function

Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrolysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-

PDB

7FDV , 7OZ1 , 7R8C , 7R8D , 7R8E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00005	ABC_tran	101 → 245	ABC transporter	Domain
PF19055	ABC2_membrane_7	274 → 346	ABC-2 type transporter	Family
PF01061	ABC2_membrane	403 → 614	ABC-2 type transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease. {ECO:0000269|PubMed:11350058}.

Sequence

MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLNGHLKKVDNNL
TEAQRFSSLPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLKGISGKFNSGELVAIMGPS
GAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKVSCYIMQDDMLLPHLTVQEAMMV
SAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQRKRLAIALELVNNPPVMFF
DEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGK
VCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNSRLVRAVREGMCDSDHKRDLGGD
AEVNPFLWHRPSEEVKQTKRLKGLRKDSSSMEGCHSFSASCLTQFCILFKRTFLSIMRDS
VLTHLRITSHIGIGLLIGLLYLGIGNEAKKVLSNSGFLFFSMLFLMFAALMPTVLTFPLE
MGVFLREHLNYWYSLKAYYLAKTMADVPFQIMFPVAYCSIVYWMTSQPSDAVRFVLFAAL
GTMTSLVAQSLGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFDTIPTYLQWMSYIS
YVRYGFEGVILSIYGLDREDLHCDIDETCHFQKSEAILRELDVENAKLYLDFIVLGIFFI
SLRLIAYFVLRYKIRAER

Sequence length

678

Interactions

View interactions

	KEGG		Reactome
	ABC transporters Lipid and atherosclerosis		ABC transporters in lipid homeostasis HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ABCG1-related disorder	Benign; Likely benign	rs2234716, rs2229411, rs151254598, rs200084430, rs144415936, rs139692028, rs141619254, rs146483452, rs56140811, rs763046609, rs138421137, rs73364654, rs201037860, rs150720995, rs56145149 View all (4 more)	RCV003931889 RCV003979804 RCV003979828 RCV003982507 RCV003911985 RCV003912103 RCV003914147 RCV003939836 RCV003941980 RCV003942021 RCV003961686 RCV003963921 RCV003907287 RCV003951767 RCV003949586 RCV003914416 RCV003907409 RCV003947157 RCV003969274 RCV003964351 RCV003964232 RCV003972874 RCV003930600 RCV003920780 RCV003913065
Acute myeloid leukemia	Benign	rs56140811	RCV005937061
Adrenocortical carcinoma, hereditary	Benign	rs56140811	RCV005937065
Cervical cancer	Benign	rs56140811	RCV005937066
Colon adenocarcinoma	Benign	rs56140811	RCV005937060
Colorectal cancer	Benign	rs56140811	RCV005937068
Hepatocellular carcinoma	Benign	rs56140811	RCV005937062
Lung cancer	Benign	rs56140811	RCV005938538
Malignant tumor of esophagus	Benign	rs56140811	RCV005937063
Melanoma	Benign	rs56140811	RCV005938537
Nonpapillary renal cell carcinoma	Benign	rs56140811	RCV005937064
Sarcoma	Benign	rs56140811	RCV005937069
Uterine carcinosarcoma	Benign	rs56140811	RCV005937070
Uterine corpus endometrial carcinoma	Benign	rs56140811	RCV005938539
Uveal melanoma	Benign	rs56140811	RCV005937067

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	17387528, 31167810, 32925069
Atherosclerosis	Associate	19287193, 19556716, 20057170, 20733269, 20871621, 22363809, 25935004, 31823830, 33263223
Breast Neoplasms	Associate	31432185, 36782224
Carcinoma Non Small Cell Lung	Associate	26757251, 33939316
Carcinoma Renal Cell	Stimulate	33825659
Carcinoma Renal Cell	Associate	40520894
Cardiomyopathies	Associate	37507725
Cardiovascular Diseases	Associate	28213390, 31823830, 34461069, 35652342
Carotid Stenosis	Associate	31589004
Cerebral Infarction	Associate	31823830
Chronic Disease	Associate	27773939
Colorectal Neoplasms	Associate	21892003, 32814794
Coronary Artery Disease	Associate	19556716, 26153245, 34837967, 35866398, 39614436
Coronary Artery Disease	Inhibit	33263223
Coronary Disease	Associate	25084356, 37507725
Cushing's symphalangism	Associate	19556716
Diabetes Mellitus	Associate	25084356, 26095709, 27019061, 27148772, 31169416, 36529747, 37770056
Diabetes Mellitus Type 2	Inhibit	18490524, 23139370
Diabetes Mellitus Type 2	Associate	23139370, 26095709, 26101197, 27148772, 31169416, 32925069, 40225014
Drug Related Side Effects and Adverse Reactions	Associate	17408620
Gastrointestinal Diseases	Associate	21892003
Hearing Loss	Associate	26095709
Heart Failure	Associate	37507725
Hidradenitis Suppurativa	Associate	39940809
Huntington Disease	Associate	26462087
Hyperlipidemias	Associate	27777315, 35866398
Hyperlipoproteinemia Type II	Associate	33028190
Hypertension	Associate	25084356
Hypertriglyceridemia	Associate	34837967
Hypoalphalipoproteinemias	Associate	11279031
Hypogonadism	Associate	30835274
Inflammation	Inhibit	25329888
Insulin Resistance	Associate	36782224, 37891690
Leukemia Myeloid Acute	Associate	26462087
Light Fixation Seizure Syndrome	Stimulate	33649397
Lipid Metabolism Disorders	Associate	28630870
Lung Neoplasms	Associate	32277808
Metabolic Diseases	Associate	32410704
Metabolic Syndrome	Associate	19287193, 26798409, 29643945, 30255772, 31796056, 34780523
Metabolic Syndrome	Inhibit	31172973
Minicore Myopathy with External Ophthalmoplegia	Associate	19556716
Mouth Neoplasms	Associate	22297602
Myasthenia Gravis	Associate	25246735
Myocardial Infarction	Associate	25583993, 33413638
Neoplasms	Associate	36057880, 40641097
Neoplasms Adipose Tissue	Associate	29713043, 37770056
Neurodegenerative Diseases	Associate	17408620
Niemann Pick Disease Type C	Associate	17020879
Obesity	Associate	26153245, 27773939, 31172973, 32410704, 33413638
Parkinson Disease	Associate	26462087
Peripheral Nervous System Diseases	Associate	24706167
Plaque Atherosclerotic	Associate	20057170
Pneumonia	Associate	31638178
Pre Eclampsia	Associate	35124425
Premature Birth	Associate	28630870
Prostatic Neoplasms	Associate	26459268
Severe Acute Respiratory Syndrome	Associate	28606150
Smoke Inhalation Injury	Associate	35866398
ST Elevation Myocardial Infarction	Associate	31589004
Stroke	Associate	39675233
Triple Negative Breast Neoplasms	Associate	31432185
Tuberculosis Multidrug Resistant	Associate	24736530
Tuberculosis Multidrug Resistant	Inhibit	26799285
Vascular Diseases	Associate	18490524
Weight Loss	Associate	22648723

ABCG1 (ATP binding cassette subfamily G member 1)