• Gene id: 9619

Gene Summary

• Gene Symbol: ABCG1   Gene   UCSC   Ensembl
• Aliases: ABC8, WHITE1
• Gene name: ATP binding cassette subfamily G member 1
• Alternate names: ATP-binding cassette sub-family G member 1, ABC transporter 8, ATP-binding cassette transporter 8, ATP-binding cassette transporter member 1 of subfamily G, ATP-binding cassette, sub-family G (WHITE), member 1, homolog of Drosophila white, white protein homolog,
• Gene location: 21q22.3 (127917051: 127907885)     Exons: 8     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 603076

Protein Summary

• Protein general information: P45844  
  • Name: ATP binding cassette sub family G member 1 (EC 7.6.2. ) (ATP binding cassette transporter 8) (White protein homolog)
  • Length: 678  
  • Mass: 75592
  • Tissue specificity: Expressed in several tissues. Expressed in macrophages; expression is increased in macrophages from patients with Tangier disease. {ECO
• Sequence:

  MACLMAAFSVGTAMNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLNGHLKKVDNNLTEAQRFSSLPRRAAV
  NIEFRDLSYSVPEGPWWRKKGYKTLLKGISGKFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPR
  DLRCFRKVSCYIMQDDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQRKRL
  AIALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGK
  VCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNSRLVRAVREGMCDSDHKRDLGGDAEVNPFLWHRPSEEV
  KQTKRLKGLRKDSSSMEGCHSFSASCLTQFCILFKRTFLSIMRDSVLTHLRITSHIGIGLLIGLLYLGIGNEAKK
  VLSNSGFLFFSMLFLMFAALMPTVLTFPLEMGVFLREHLNYWYSLKAYYLAKTMADVPFQIMFPVAYCSIVYWMT
  SQPSDAVRFVLFAALGTMTSLVAQSLGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFDTIPTYLQWMSYIS
  YVRYGFEGVILSIYGLDREDLHCDIDETCHFQKSEAILRELDVENAKLYLDFIVLGIFFISLRLIAYFVLRYKIR
  AER

• Structural information:
  • Protein Domains: (77..31-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (415..67-)
    type-2" (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR013525  IPR003439  IPR017871  IPR027417   IPR005284  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000354995
• Other Databases: GeneCards:  ABCG1  Malacards:  ABCG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140328	floppase activity	IDA	molecular function
GO:1902004	positive regulation of amyloid-beta formation	IDA	biological process
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0034041	ATPase-coupled sterol transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0033344	cholesterol efflux	IMP	biological process
GO:0033344	cholesterol efflux	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0034375	high-density lipoprotein particle remodeling	TAS	biological process
GO:0005768	endosome	IEA	cellular component
GO:0010872	regulation of cholesterol esterification	IEA	biological process
GO:0010875	positive regulation of cholesterol efflux	IEA	biological process
GO:0010888	negative regulation of lipid storage	IEA	biological process
GO:0030301	cholesterol transport	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0034375	high-density lipoprotein particle remodeling	IEA	biological process
GO:0043691	reverse cholesterol transport	IEA	biological process
GO:0045542	positive regulation of cholesterol biosynthetic process	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0034374	low-density lipoprotein particle remodeling	IEA	biological process
GO:0071403	cellular response to high density lipoprotein particle stimulus	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005543	phospholipid binding	IC	molecular function
GO:0015485	cholesterol binding	IC	molecular function
GO:0120020	cholesterol transfer activity	IDA	molecular function
GO:0019534	toxin transmembrane transporter activity	IDA	molecular function
GO:0034041	ATPase-coupled sterol transmembrane transporter activity	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0140328	floppase activity	IDA	molecular function
GO:0090554	phosphatidylcholine floppase activity	IDA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0033344	cholesterol efflux	IDA	biological process
GO:0033993	response to lipid	IDA	biological process
GO:0034436	glycoprotein transport	IDA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0042987	amyloid precursor protein catabolic process	IDA	biological process
GO:0005768	endosome	ISS	cellular component
GO:0010745	negative regulation of macrophage derived foam cell differentiation	TAS	biological process
GO:0010872	regulation of cholesterol esterification	ISS	biological process
GO:0034375	high-density lipoprotein particle remodeling	ISS	biological process
GO:0043691	reverse cholesterol transport	ISS	biological process
GO:0045542	positive regulation of cholesterol biosynthetic process	ISS	biological process
GO:0055037	recycling endosome	ISS	cellular component
GO:0055091	phospholipid homeostasis	IMP	biological process
GO:0008203	cholesterol metabolic process	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0010887	negative regulation of cholesterol storage	TAS	biological process
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0033700	phospholipid efflux	IMP	biological process
GO:0034374	low-density lipoprotein particle remodeling	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:1901998	toxin transport	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0034204	lipid translocation	IEA	biological process
GO:0034204	lipid translocation	IEA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005794	Golgi apparatus	HDA	cellular component
GO:0005886	plasma membrane	HDA	cellular component
GO:0010033	response to organic substance	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray