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3.A.1.204.12
The intracellular sterol transporter, ABCG1 (Tarling and Edwards, 2011). Involved in cell signalling, creation of membrane asymmetry and apoptosis (Quazi and Molday, 2011). Promotes cholesterol efflux from macrophages and other cells to the mature forms of HDL (HDL2 and HDL3) (Voloshyna and Reiss, 2011).  Plays a role in arteriosclerosis (Münch et al. 2012).  The diverse functions in various cell types have been reviewed by Tarling (2013).  Many mammals have two isoforms, long and short, but mice have only the short isoform (Burns et al. 2013).  Residues have been identified that play roles in stability, oligomerization and trafficking (Wang et al. 2013).  Both the full-length and the short isoforms of ABCG1 can dimerize with ABCG4 (3.A.1.204.20) (Hegyi and Homolya 2016). Cholesterol-binding motifs in the membrane may allow transport of different cholesterol pools (Dergunov et al. 2018). It is required for maintenance of cellular cholesterol levels (Sun et al. 2021). It plays a role in the occurrance of some lipids and protein in HDL such as 7-ketocholesterol and some essential proteins such as alpha-1-antitrypsin, apoA-4, apoB-100, and serum amyloid A (SAA) (Wu et al. 2022). ABCG1-mediated cholesterol efflux influences coronary atherosclerosis and cardiovascular risk in Rheumatoid Arthritis (Karpouzas et al. 2023). Aberrant cholesterol homeostasis is a hallmark of cancer and is implicated in metastasis as well as chemotherapeutic resistance. Liver X receptors (LXRs) are the key transcription factors that induce cholesterol efflux via enhancing the expression of ABCA1 and ABCG1 (Taank et al. 2024). Ergosterol and its metabolites are agonists of Liver X receptor and their anticancer potential in colorectal cancer.  Cholesterol accumulation promotes cellular senescence in photoreceptor rod cells (Terao et al. 2024).

Accession Number:P45844
Protein Name:ATP-binding cassette sub-family G member 1
Length:678
Molecular Weight:75592.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:7
Location1 / Topology2 / Orientation3: Endoplasmic reticulum membrane1 / Multi-pass membrane protein2
Substrate cholesterol

Cross database links:

Entrez Gene ID: 9619   
Pfam: PF01061    PF00005   
KEGG: hsa:9619   

Gene Ontology

GO:0005789 C:endoplasmic reticulum membrane
GO:0009897 C:external side of plasma membrane
GO:0000139 C:Golgi membrane
GO:0005887 C:integral to plasma membrane
GO:0055037 C:recycling endosome
GO:0043531 F:ADP binding
GO:0005524 F:ATP binding
GO:0015485 F:cholesterol binding
GO:0017127 F:cholesterol transporter activity
GO:0034437 F:glycoprotein transporter activity
GO:0005543 F:phospholipid binding
GO:0005548 F:phospholipid transporter activity
GO:0046982 F:protein heterodimerization activity
GO:0042803 F:protein homodimerization activity
GO:0034041 F:sterol-transporting ATPase activity
GO:0019534 F:toxin transporter activity
GO:0042987 P:amyloid precursor protein catabolic process
GO:0033344 P:cholesterol efflux
GO:0042632 P:cholesterol homeostasis
GO:0008203 P:cholesterol metabolic process
GO:0009720 P:detection of hormone stimulus
GO:0034375 P:high-density lipoprotein particle remodeling
GO:0032367 P:intracellular cholesterol transport
GO:0042157 P:lipoprotein metabolic process
GO:0034374 P:low-density lipoprotein particle remodeling
GO:0010887 P:negative regulation of cholesterol storage
GO:0010745 P:negative regulation of macrophage derived foam cell differentiation
GO:0033700 P:phospholipid efflux
GO:0055091 P:phospholipid homeostasis
GO:0045542 P:positive regulation of cholesterol biosynthetic process
GO:0010872 P:regulation of cholesterol esterification
GO:0006355 P:regulation of transcription, DNA-dependent
GO:0033993 P:response to lipid
GO:0043691 P:reverse cholesterol transport

References (13)

[1] “Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.”  Chen H.M.et.al.   8659545
[2] “Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.”  Berry A.et.al.   10950923
[3] “The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux.”  Porsch-Oezcueruemez M.et.al.   11279031
[4] “Genomic sequence and structure of the human ABCG1 (ABC8) gene.”  Lorkowski S.et.al.   11162488
[5] “Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein.”  Kennedy M.A.et.al.   11500512
[6] “The DNA sequence of human chromosome 21.”  Hattori M.et.al.   10830953
[7] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[8] “Isolation and characterization of a mammalian homolog of the Drosophila white gene.”  Croop J.M.et.al.   9034316
[9] “Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols.”  Venkateswaran A.et.al.   10799558
[10] “ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport.”  Klucken J.et.al.   10639163
[11] “Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway.”  Kaplan R.et.al.   12032171
[12] “Role of ABCG1 and other ABCG family members in lipid metabolism.”  Schmitz G.et.al.   11590207
[13] “Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease.”  Lorkowski S.et.al.   11350058

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MACLMAAFSV GTAMNASSYS AEMTEPKSVC VSVDEVVSSN MEATETDLLN GHLKKVDNNL 
61:	TEAQRFSSLP RRAAVNIEFR DLSYSVPEGP WWRKKGYKTL LKGISGKFNS GELVAIMGPS 
121:	GAGKSTLMNI LAGYRETGMK GAVLINGLPR DLRCFRKVSC YIMQDDMLLP HLTVQEAMMV 
181:	SAHLKLQEKD EGRREMVKEI LTALGLLSCA NTRTGSLSGG QRKRLAIALE LVNNPPVMFF 
241:	DEPTSGLDSA SCFQVVSLMK GLAQGGRSII CTIHQPSAKL FELFDQLYVL SQGQCVYRGK 
301:	VCNLVPYLRD LGLNCPTYHN PADFVMEVAS GEYGDQNSRL VRAVREGMCD SDHKRDLGGD 
361:	AEVNPFLWHR PSEEVKQTKR LKGLRKDSSS MEGCHSFSAS CLTQFCILFK RTFLSIMRDS 
421:	VLTHLRITSH IGIGLLIGLL YLGIGNEAKK VLSNSGFLFF SMLFLMFAAL MPTVLTFPLE 
481:	MGVFLREHLN YWYSLKAYYL AKTMADVPFQ IMFPVAYCSI VYWMTSQPSD AVRFVLFAAL 
541:	GTMTSLVAQS LGLLIGAAST SLQVATFVGP VTAIPVLLFS GFFVSFDTIP TYLQWMSYIS 
601:	YVRYGFEGVI LSIYGLDRED LHCDIDETCH FQKSEAILRE LDVENAKLYL DFIVLGIFFI 
661:	SLRLIAYFVL RYKIRAER