ABCG5 (ATP binding cassette subfamily G member 5)

Gene

• Entrez ID: 64240
• Gene name: ATP binding cassette subfamily G member 5
• Gene symbol: ABCG5
• Synonyms: STSL, STSL2
• Chromosome: 2
• Chromosome location: 2p21
• 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	21123766
NR5A2	Activation	15121760
SREBF2	Repression	21123766

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 17474147
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0007584	Process	Response to nutrient	IEA
GO:0007588	Process	Excretion	IGI	14504269
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATPase activity	IDA	16893193
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0038183	Process	Bile acid signaling pathway	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0055085	Process	Transmembrane transport	TAS
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269

Other IDs

• MIM: 605459
• HGNC: 13886
• e!Ensembl: ENSG00000138075

Protein

• UniProt ID: Q9H222
• Protein name: ATP-binding cassette sub-family G member 5 (EC 7.6.2.-) (Sterolin-1)
• Protein function: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).
• PDB: 5DO7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	69 → 221	ABC transporter	Domain
  PF19055	ABC2_membrane_7	250 → 362	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	366 → 580	ABC-2 type transporter	Family

• Sequence:

  MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC
  RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL
  RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV
  ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
  RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF
  YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD
  SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV
  GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
  IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA
  GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC
  AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR

• Sequence length: 651