AutismKB 2.0

Annotation Details for ABCA4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA4 ( ABC10,ABCR,ARMD2,CORD3,DKFZp781N1972,FFM,FLJ17534,RMP,RP19,STGD,STGD1 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 4
Band: 1p22.1
Quick LinksEntrez ID:24; OMIM: 601691; Uniprot ID:ABCA4_HUMAN; ENSEMBL ID: ENSG00000198691; HGNC ID: 34
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005887IEA-integral component of plasma membrane-
GO:0016020TAS-membrane9054934
GO:0043231IBA-intracellular membrane-bounded organelle-
GO:0097381TAS-photoreceptor disc membrane-
GO ID Evidence Qualifier GO_term References
GO:0005215TAS-transporter activity9054934
GO:0005395TAS-eye pigment precursor transporter activity-
GO:0005524IEA-ATP binding-
GO:0016887IDA-ATPase activity24097981
GO:0042626TAS-ATPase activity, coupled to transmembrane movement of substances9054934
GO:0090555IDA-phosphatidylethanolamine-translocating ATPase activity24097981
GO ID Evidence Qualifier GO_term References
GO:0001523TAS-retinoid metabolic process-
GO:0006649IEA-phospholipid transfer to membrane-
GO:0006810TAS-transport9054934
GO:0007601IEA-visual perception-
GO:0007603TAS-phototransduction, visible light9202155
GO:0045332IDA-phospholipid translocation24097981
GO:0045494IEA-photoreceptor cell maintenance-
GO:0055085TAS-transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CNGB1ABCA410654210466724 Affinity Capture-Western
CNGB1ABCA410765810466724 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109424
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050517-3'