Abcg5 ATP binding cassette subfamily G member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcg5provided by MGI
Official Full Name: ATP binding cassette subfamily G member 5provided by MGI
Primary source: MGI:MGI:1351659
See related: Ensembl:ENSMUSG00000040505 AllianceGenome:MGI:1351659
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: cmp; trac; sterolin-1
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, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
Expression: Biased expression in duodenum adult (RPKM 83.5), large intestine adult (RPKM 69.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E4; 17 55.02 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (84965602..84990439, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (84658174..84683011, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maternal high-fat diet regulates offspring hepatic ABCG5 expression and cholesterol metabolism via the gut microbiota and its derived butyrate.
Title: Maternal high-fat diet regulates offspring hepatic ABCG5 expression and cholesterol metabolism via the gut microbiota and its derived butyrate.
ABCG5 and ABCG8 Are Involved in Vitamin K Transport.
Title: ABCG5 and ABCG8 Are Involved in Vitamin K Transport.
The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Title: The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
Interleukin-33 delays recovery of mucosal inflammation via downregulation of homeostatic ABCG5/8 in the colon.
Title: Interleukin-33 delays recovery of mucosal inflammation via downregulation of homeostatic ABCG5/8 in the colon.
ABCG5 and ABCG8 mRNA levels were significantly increased in cholesterol group and less increased in myriocin group, relative to that in normal group.
Title: Inhibition of Ceramide Decreased the Expression of ATP-Binding Cassette Transporter G5/8 mRNA in an Animal Model of Cholesterol Gallstone.
The ABCG5/G8-independent pathway plays an important role in regulating biliary cholesterol secretion, and gallstone formation, which works independently of the ABCG5/G8 pathway.
Title: Evidence that the adenosine triphosphate-binding cassette G5/G8-independent pathway plays a determinant role in cholesterol gallstone formation in mice.
ABCG5/G8 mediate mass biliary cholesterol secretion but not from a reverse cholesterol transport-relevant pool.
Title: Hepatic ABCG5/G8 overexpression substantially increases biliary cholesterol secretion but does not impact in vivo macrophage-to-feces RCT.
AdGRP78 reduced expression of lipogenic genes and plasma triglycerides in the db/db strain. Both G5 and G8 protein levels increased as did total biliary cholesterol
Title: GRP78 rescues the ABCG5 ABCG8 sterol transporter in db/db mice.
The data demonstrate that Abcg5/Abcg8 deficiency reduces the uptake and secretion of both dietary triacylglycerols and cholesterol by the intestine, suggesting a novel role for the sterol transporter in the formation and secretion of chylomicrons.
Title: ABCG5/G8 deficiency in mice reduces dietary triacylglycerol and cholesterol transport into the lymph.
Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease
Title: Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Spontaneous (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
contributes_to ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
contributes_to cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intestinal cholesterol absorption	IC Inferred by Curator more info	PubMed
involved_in negative regulation of intestinal cholesterol absorption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intestinal cholesterol absorption	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intestinal phytosterol absorption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intestinal phytosterol absorption	ISO Inferred from Sequence Orthology more info
involved_in response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in triglyceride homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ATP-binding cassette (ABC) transporter complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ATP-binding cassette (ABC) transporter complex	IEA Inferred from Electronic Annotation more info
part_of ATP-binding cassette (ABC) transporter complex	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family G member 5

Names: ATP-binding cassette, sub-family G (WHITE), member 5; sterolin 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_031884.2 → NP_114090.1 ATP-binding cassette sub-family G member 5

See identical proteins and their annotated locations for NP_114090.1

Status: REVIEWED

Source sequence(s)

AF312713, BB798401

Consensus CDS

CCDS29001.1

UniProtKB/Swiss-Prot

Q540E8, Q99PE8

UniProtKB/TrEMBL

Q7TSR8

Related

ENSMUSP00000069495.4, ENSMUST00000066175.10

Conserved Domains (3) summary

cd03234
Location:50 → 276

ABCG_White; White pigment protein homolog of ABCG transporter subfamily

TIGR00955
Location:61 → 646

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

pfam01061
Location:372 → 579

ABC2_membrane; ABC-2 type transporter