Abcg4 ATP binding cassette subfamily G member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcg4provided by MGI
Official Full Name: ATP binding cassette subfamily G member 4provided by MGI
Primary source: MGI:MGI:1890594
See related: Ensembl:ENSMUSG00000032131 AllianceGenome:MGI:1890594
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6430517O04Rik
Summary: Enables ABC-type sterol transporter activity. Involved in cholesterol efflux and cholesterol homeostasis. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in endosome membrane. Is expressed in several structures, including alimentary system; immune system; liver; nervous system; and sensory organ. Orthologous to human ABCG4 (ATP binding cassette subfamily G member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal adult (RPKM 20.5), cerebellum adult (RPKM 15.8) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.2; 9 24.84 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (44184485..44199953, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (44273188..44288656, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

transplantation of bone marrow deficient in ABCG4, a transporter of unknown function, into Ldlr(-/-) mice resulted in thrombocytosis, accelerated thrombosis and atherosclerosis
Title: Cholesterol efflux in megakaryocyte progenitors suppresses platelet production and thrombocytosis.
The loss of ABCG1 and/or ABCG4 from the CNS results in changes in metabolic pathways and in behavior.
Title: Differential expression and function of ABCG1 and ABCG4 during development and aging.
a role for Abcg4 in sterastrocyol efflux in the brain, Abcg4 promotes efflux of cholesterol, desmosterol, and possibly other sterol biosynthetic intermediates to HDL.
Title: ATP-binding cassette transporters G1 and G4 mediate cholesterol and desmosterol efflux to HDL and regulate sterol accumulation in the brain.
based on the results, we propose that ABCG1 and ABCG4 mediate the intracellular vesicular transport of cholesterol/sterols within both neurons and astrocytes to regulate cholesterol transport in the brain
Title: ABCG1 and ABCG4 are coexpressed in neurons and astrocytes of the CNS and regulate cholesterol homeostasis through SREBP-2.
ABCG1 and ABCG4 act in concert with ABCA1 to maximize the removal of excess cholesterol from cells and to generate cholesterol-rich lipoprotein particles
Title: ABCA1 and ABCG1 or ABCG4 act sequentially to remove cellular cholesterol and generate cholesterol-rich HDL.
ABCG1 and ABCG4 promote cholesterol efflux from cells to HDL
Title: ATP-binding cassette transporters G1 and G4 mediate cellular cholesterol efflux to high-density lipoproteins.

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Variation

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Alleles

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

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

General gene information

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Markers

D11S841 (e-PCR)
- UniSTS:146958

Abcg4 (e-PCR), detects polymorphism
- UniSTS:259391

NoName (e-PCR)
- UniSTS:236109

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type sterol transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type sterol transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to high density lipoprotein particle stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette subfamily G member 4

Names: ATP-binding cassette sub-family G member 4; ATP-binding cassette transporter White2; ATP-binding cassette, sub-family G (WHITE), member 4

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_138955.3 → NP_620405.3 ATP-binding cassette subfamily G member 4

See identical proteins and their annotated locations for NP_620405.3

Status: VALIDATED

Source sequence(s)

AC124577

Consensus CDS

CCDS23101.1

UniProtKB/Swiss-Prot

Q8K4E1, Q8VBS9, Q91WA9

UniProtKB/TrEMBL

Q8BXW2

Related

ENSMUSP00000124647.2, ENSMUST00000161354.9

Conserved Domains (1) summary

TIGR00955
Location:44 → 646

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

44184485..44199953 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244129.1 → XP_030099989.1 ATP-binding cassette subfamily G member 4 isoform X2

UniProtKB/TrEMBL

Q8R1U5

Conserved Domains (1) summary

TIGR00955
Location:55 → 472

3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
XM_011242421.3 → XP_011240723.1 ATP-binding cassette subfamily G member 4 isoform X1

See identical proteins and their annotated locations for XP_011240723.1

UniProtKB/Swiss-Prot

Q8K4E1, Q8VBS9, Q91WA9

UniProtKB/TrEMBL

Q8BXW2

Conserved Domains (1) summary

TIGR00955
Location:44 → 646

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