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Abca4
Gene Detail
Symbol

Name
ID
Abca4
ATP-binding cassette, sub-family A (ABC1), member 4
MGI:109424
Synonyms
Abc10, D430003I15Rik, Rim protein, RmP
Feature Type
protein coding gene
Genetic Map
Chromosome 3
52.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr3:122044443-122180061 bp, + strand
From VEGA annotation of GRCm38

  135619 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:298  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Abca4

Human
homologs
Human Homolog ABCA4, ATP-binding cassette, sub-family A (ABC1), member 4
NCBI Gene ID 24
neXtProt AC  NX_P78363
Human Synonyms  ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Human Chr (Location)  1p22; chr1:93992837-94121149 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human ABCA4
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(4) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.
 
Human Diseases Modeled Using Mouse Abca4 (3)    Alleles Annotated to Human Diseases(1)   
Interactions
Abca4 interacts with 76 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(30)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(32) cDNA(30) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000029911 (Evidence)
Ensembl Gene ModelENSMUSG00000028125 (Evidence)
Entrez Gene11304 (Evidence)
UniGene3918
DFCITC1583421, TC1613009, TC1681459
DoTSDT.101341890, DT.101722342, DT.55108177, DT.91419758, DT.97359171
NIA Mouse Gene IndexU003800
Consensus CDS ProjectCCDS38617.1
International Mouse Knockout Project StatusAbca4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029911 VEGA Gene Model | MGI Sequence Detail 135619 C57BL/6J ±  kb
transcript OTTMUST00000074208 VEGA | MGI Sequence Detail 7265 Not Applicable 
polypeptide OTTMUSP00000038539 VEGA | MGI Sequence Detail 2310 Not Applicable 

For the selected sequences
All sequences(64) RefSeq(16) UniProt(3)
Polymorphisms
SNPs within 2kb(1763 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR026082 ABC transporter A, ABCA
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR005951 Rim ABC transporter
Protein Ontology PR:000003542 retinal-specific ATP-binding cassette transporter
References
(Earliest) J:38700 Allikmets R, et al., A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [see comments]. Nat Genet. 1997 Mar;15(3):236-46
(Latest) J:210001 Kohno H, et al., CCL3 production by microglial cells modulates disease severity in murine models of retinal degeneration. J Immunol. 2014 Apr 15;192(8):3816-27
All references(79)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-38469, MGI:2139961, MGI:2444181

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory