ABCG1 (ATP binding cassette subfamily G member 1)

Gene

• Entrez ID: 9619
• Gene name: ATP binding cassette subfamily G member 1
• Gene symbol: ABCG1
• Synonyms (NCBI Gene): ABC8, WHITE1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054154	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054154	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054228	hsa-miR-128-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23990020
MIRT735152	hsa-miR-320b	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), in vitro cullelar assays, qRT-PCR	33536383
MIRT735152	hsa-miR-320b	Luciferase reporter assay, Western blotting, Microarray, qRT-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

Transcription factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 603076
• HGNC: 73
• e!Ensembl: ENSG00000160179

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABCG1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

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