Hs04073462_cn

• Gene Symbol: ABCG1
• Assay Reference Genome Location: Chr.21:42202355 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 9619
• Gene Name: ATP binding cassette subfamily G member 1
• Gene Aliases: ABC8, WHITE1
• Location: Chr.21:42199689-42304389 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCG1	NM_207627.1			NP_997510.1
	NM_207628.1			NP_997511.1
	AF323660.1			AAK28838.1
	AF323661.1			AAK28839.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2762113	Chr.21:42199305 - 42211517 on Build GRCh38	Loss	ABCG1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
cholesterol metabolic process
detection of hormone stimulus
response to organic substance
negative regulation of macrophage derived foam cell differentiation
regulation of cholesterol esterification
positive regulation of cholesterol efflux
negative regulation of cholesterol storage
intracellular cholesterol transport
cholesterol efflux
phospholipid efflux
response to lipid
low-density lipoprotein particle remodeling
high-density lipoprotein particle remodeling
glycoprotein transport
lipoprotein metabolic process
cholesterol homeostasis
amyloid precursor protein catabolic process
reverse cholesterol transport
positive regulation of cholesterol biosynthetic process
transmembrane transport
phospholipid homeostasis
response to high density lipoprotein particle
toxin transport

Function(s)

ATP binding
phospholipid binding
phospholipid transporter activity
cholesterol binding
cholesterol transporter activity
toxin transporter activity
sterol-transporting ATPase activity
glycoprotein transporter activity
protein homodimerization activity
ADP binding
protein heterodimerization activity
protein dimerization activity