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

Gene ID: 11304, updated on 28-May-2024

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
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Genomic context

See Abca4 in Genome Data Viewer
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_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34119 Neighboring gene predicted gene, 46821 Neighboring gene Rho GTPase activating protein 29 Neighboring gene VISTA enhancer mm435 Neighboring gene STARR-positive B cell enhancer ABC_E3466 Neighboring gene predicted gene, 40138 Neighboring gene STARR-seq mESC enhancer starr_08870 Neighboring gene STARR-seq mESC enhancer starr_08871 Neighboring gene lysine (K)-specific demethylase 4D pseudogene Neighboring gene predicted gene, 46822 Neighboring gene predicted gene, 40137

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (6)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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
XP_006500974.1
XP_006500975.1
XP_017174928.1
XP_017174929.1
XP_036018752.1

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)

  1. NM_007378.1NP_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:12271
    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

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    121837547..121973719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    TIGR01257
    Location:12211
    rim_protein; retinal-specific rim ABC transporter
  2. XM_006500912.4XP_006500975.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X3

    Conserved Domains (1) summary
    TIGR01257
    Location:11819
    rim_protein; retinal-specific rim ABC transporter
  3. XM_006500911.4XP_006500974.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X2

    Conserved Domains (1) summary
    TIGR01257
    Location:11988
    rim_protein; retinal-specific rim ABC transporter
  4. XM_017319440.3XP_017174929.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X4

    Conserved Domains (1) summary
    TIGR01257
    Location:11432
    rim_protein; retinal-specific rim ABC transporter
  5. XM_036162859.1XP_036018752.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X5

    UniProtKB/TrEMBL
    A0A0G2JGG8
    Related
    ENSMUSP00000143560.2, ENSMUST00000141135.5
    Conserved Domains (1) summary
    TIGR01257
    Location:151222
    rim_protein; retinal-specific rim ABC transporter

RNA

  1. XR_375477.4 RNA Sequence

  2. XR_003954273.2 RNA Sequence

  3. XR_375478.4 RNA Sequence