ABCG1 (ATP binding cassette subfamily G member 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (50)

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) 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

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
  PF01061	ABC2_membrane	403 → 614	ABC-2 type transporter	Family
  PF00005	ABC_tran	101 → 245	ABC transporter	Domain
  PF19055	ABC2_membrane_7	274 → 346	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

Pathways

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

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 Show/Hide Unknown Diseases (23)
Phenotype Name	Clinical Significance	Source	Reference	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	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	22294766	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	26433762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	22179738	★★☆☆☆ 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	28000841	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	19878707	★★☆☆☆ 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	24529757	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	34737425	★★☆☆☆ 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 Show/Hide Text Mining Associations (137)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31037158		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24393350, 29977615, 30185655		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17387528, 31167810, 32925069	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27196068, 29468564		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23462326		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18599800, 19556716, 22062970, 22155456, 22614118, 24972087, 25890853, 26323267, 27374487, 27482882, 28478047, 28869506, 29045950, 29298513, 29678642, 29710032, 30041636, 30393020, 30528268, 30938872, 31159502, 31409515, 31437479, 31790366		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ZNF804B 2 shared diseasesOsteonecrosis of the femoral head, Eating disorder 2 shared evidence sourcesGWAS catalog (Eating disorder), GWAS catalog (Osteonecrosis of the femoral head) Related via 2 shared diseases including Osteonecrosis of the femoral head, Eating disorder — evidence mostly GWAS catalog. GPNMB 2 shared diseasesColorectal neoplasms, Kidney failure 2 shared evidence sourcesCTD (Colorectal neoplasms), Disgenet (Kidney failure) Related via 2 shared diseases including Colorectal neoplasms, Kidney failure — evidence mostly CTD. ETV1 2 shared diseasesOsteonecrosis of the femoral head, Colorectal neoplasms 2 shared evidence sourcesCTD (Colorectal neoplasms), GWAS catalog (Osteonecrosis of the femoral head) Related via 2 shared diseases including Osteonecrosis of the femoral head, Colorectal neoplasms — evidence mostly CTD. SORCS2 2 shared diseasesOsteonecrosis of the femoral head, Eating disorder 2 shared evidence sourcesGWAS catalog (Eating disorder), GWAS catalog (Osteonecrosis of the femoral head) Related via 2 shared diseases including Osteonecrosis of the femoral head, Eating disorder — evidence mostly GWAS catalog. GRID1 2 shared diseasesColorectal neoplasms, Eating disorder 3 shared evidence sourcesGWAS catalog (Amyotrophic lateral sclerosis), CTD (Colorectal neoplasms), GWAS catalog (Eating disorder) Related via 2 shared diseases including Colorectal neoplasms, Eating disorder — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ZNF804B	2	["Osteonecrosis of the femoral head","Eating disorder"]	0	[]	2	["GWAS catalog (Eating disorder)","GWAS catalog (Osteonecrosis of the femoral head)"]
GPNMB	2	["Colorectal neoplasms","Kidney failure"]	0	[]	2	["CTD (Colorectal neoplasms)","Disgenet (Kidney failure)"]
ETV1	2	["Osteonecrosis of the femoral head","Colorectal neoplasms"]	0	[]	2	["CTD (Colorectal neoplasms)","GWAS catalog (Osteonecrosis of the femoral head)"]
SORCS2	2	["Osteonecrosis of the femoral head","Eating disorder"]	0	[]	2	["GWAS catalog (Eating disorder)","GWAS catalog (Osteonecrosis of the femoral head)"]
GRID1	2	["Colorectal neoplasms","Eating disorder"]	0	[]	3	["GWAS catalog (Amyotrophic lateral sclerosis)","CTD (Colorectal neoplasms)","GWAS catalog (Eating disorder)"]

Diseases Linked via Similar Genes

Anorexia nervosa Linked via 3 of 5 related genesZNF804B, SORCS2, GRID1 Insomnia Linked via 3 of 5 related genesZNF804B, ETV1, SORCS2 Dental caries Linked via 2 of 5 related genesZNF804B, GRID1 Metabolic syndrome Linked via 2 of 5 related genesZNF804B, GRID1 Ovarian cancer Linked via 2 of 5 related genesZNF804B, GRID1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Anorexia nervosa	3	["ZNF804B","SORCS2","GRID1"]
Insomnia	3	["ZNF804B","ETV1","SORCS2"]
Dental caries	2	["ZNF804B","GRID1"]
Metabolic syndrome	2	["ZNF804B","GRID1"]
Ovarian cancer	2	["ZNF804B","GRID1"]