Abca4 ATP-binding cassette, sub-family A member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca4provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 4provided by MGI
Primary source: MGI:MGI:109424
See related: Ensembl:ENSMUSG00000028125 AllianceGenome:MGI:109424
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: RmP; Abcr; Abc10; D430003I15Rik
Summary: The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney adult (RPKM 1.4), ovary adult (RPKM 1.3) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G1; 3 52.94 cM

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (121837547..121973719)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (122043891..122180070)

Chromosome 3 - NC_000069.7 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?

Lutein and zeaxanthin reduce A2E and iso-A2E levels and improve visual performance in Abca4(-/-)/Bco2(-/-) double knockout mice.
Title: Lutein and zeaxanthin reduce A2E and iso-A2E levels and improve visual performance in Abca4(-/-)/Bco2(-/-) double knockout mice.
Cell-Type-Specific Complement Profiling in the ABCA4(-/-) Mouse Model of Stargardt Disease.
Title: Cell-Type-Specific Complement Profiling in the ABCA4(-/-) Mouse Model of Stargardt Disease.
Disentangling the Roles of RIM and Munc13 in Synaptic Vesicle Localization and Neurotransmission.
Title: Disentangling the Roles of RIM and Munc13 in Synaptic Vesicle Localization and Neurotransmission.
ABCA4 functions to recycle retinaldehyde released during proteolysis of rhodopsin in retinal pigment epithelium endolysosomes following daily phagocytosis of distal photoreceptor OS. ABCA4 deficiency in the retinal pigment epithelium may play a role in the pathogenesis of Recessive Stargardt disease 1.
Title: Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration.
we show that the p.Asn965Ser ABCA4 variant expresses at half the level of WT ABCA4, partially mislocalizes to the endoplasmic reticulum (ER) of photoreceptors, is devoid of N-Ret-PE activated ATPase activity, and causes an increase in autofluorescence and the bisretinoid A2E associated with lipofuscin deposits in retinal pigment epithelial cells as found in Stargardt patients and Abca4 knockout mice.
Title: Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.
a comprehensive analysis using RNA-seq identified important roles of the acute stress response in the degenerating retina of Abca4-/-Rdh8-/- mice that are predisposed to retinal degeneration under light stress.
Title: Acute Stress Responses Are Early Molecular Events of Retinal Degeneration in Abca4-/-Rdh8-/- Mice After Light Exposure.
Data indicate that knocking out the ATP-binding cassette transporter Abca4 gene correlated with an increase in all orange pigments.
Title: Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization.
The viral oncoprotein HBx of Hepatitis B virus promotes the growth of hepatocellular carcinoma through cooperating with the cellular oncoprotein RMP.
Title: The viral oncoprotein HBx of Hepatitis B virus promotes the growth of hepatocellular carcinoma through cooperating with the cellular oncoprotein RMP.
Despite pronounced lipofuscin accumulation in the retinal pigment epithelium of Abca4(-/-) mice, ERG and histology showed a slow age-related thinning of the photoreceptor layer similar to wild type controls up to 12 months.
Title: Fundus autofluorescence in the Abca4(-/-) mouse model of Stargardt disease--correlation with accumulation of A2E, retinal function, and histology.
Abca4-deficient mice accumulate more of the toxic bisretinoid A2E than their ABCA4-competent counterparts which contribute to primary cone toxicity and may be associated with macular vision loss
Title: Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Abca4 (e-PCR), detects polymorphism
- UniSTS:546611

Abca4 (e-PCR), detects polymorphism
- UniSTS:140994

AF000149 (e-PCR)
- UniSTS:159184

30.MMHAP14FLB6.seq (e-PCR)
- UniSTS:123891

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 11-cis retinal binding	ISO Inferred from Sequence Orthology more info
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 ATPase-coupled intramembrane lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled intramembrane lipid transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables N-retinylidene-phosphatidylethanolamine flippase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables all-trans retinal binding	ISO Inferred from Sequence Orthology more info
enables flippase activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylethanolamine flippase activity	ISO Inferred from Sequence Orthology more info
enables phospholipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phospholipid transfer to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in retinal metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transmembrane transport	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: retinal-specific phospholipid-transporting ATPase ABCA4

Names: ATP-binding cassette 10; ATP-binding cassette, sub-family A (ABC1), member 4; RIM ABC transporter; Rim protein; retinal-specific ATP-binding cassette transporter

NP_031404.1

EC 7.6.2.1

XP_006500974.1

EC 7.6.2.1

XP_006500975.1

EC 7.6.2.1

XP_017174928.1

EC 7.6.2.1

XP_017174929.1

EC 7.6.2.1

XP_036018752.1

EC 7.6.2.1

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_007378.1 → NP_031404.1 retinal-specific phospholipid-transporting ATPase ABCA4

See identical proteins and their annotated locations for NP_031404.1

Status: REVIEWED

Source sequence(s)

AF000149

Consensus CDS

CCDS38617.1

UniProtKB/Swiss-Prot

O35600

Related

ENSMUSP00000013995.9, ENSMUST00000013995.13

Conserved Domains (1) summary

TIGR01257
Location:1 → 2271

rim_protein; retinal-specific rim ABC transporter

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_000069.7 Reference GRCm39 C57BL/6J

Range

121837547..121973719

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319439.2 → XP_017174928.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1

Conserved Domains (1) summary

TIGR01257
Location:1 → 2211

rim_protein; retinal-specific rim ABC transporter
XM_006500912.4 → XP_006500975.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X3

Conserved Domains (1) summary

TIGR01257
Location:1 → 1819

rim_protein; retinal-specific rim ABC transporter
XM_006500911.4 → XP_006500974.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X2

Conserved Domains (1) summary

TIGR01257
Location:1 → 1988

rim_protein; retinal-specific rim ABC transporter
XM_017319440.3 → XP_017174929.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X4

Conserved Domains (1) summary

TIGR01257
Location:1 → 1432

rim_protein; retinal-specific rim ABC transporter
XM_036162859.1 → XP_036018752.1 retinal-specific phospholipid-transporting ATPase ABCA4 isoform X5

UniProtKB/TrEMBL

A0A0G2JGG8

Related

ENSMUSP00000143560.2, ENSMUST00000141135.5

Conserved Domains (1) summary

TIGR01257
Location:15 → 1222

rim_protein; retinal-specific rim ABC transporter