ABCA4 [The Human Chemical-Genetic Interaction Map Project]

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======= ABCA4 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ABCA4
  * **<color #00a2e8>Official Name</color>**: ATP binding cassette subfamily A member 4
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=24|24]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P78363|P78363]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ABCA4&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABCA4|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601691|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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 is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. {ECO:0000269|PubMed:10075733}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|ABC2 membrane 3|
|ABC tran|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|phosphatidylethanolamine flippase activity|
|phospholipid transfer to membrane|
|phospholipid transporter activity|
|ATPase-coupled intramembrane lipid transporter activity|
|phototransduction, visible light|
|photoreceptor disc membrane|
|lipid transporter activity|
|photoreceptor cell maintenance|
|transporter activity|
|phospholipid translocation|
|phototransduction|
|lipid translocation|
|detection of visible light|
|regulation of membrane lipid distribution|
|ATPase-coupled transmembrane transporter activity|
|detection of light stimulus|
|retina homeostasis|
|phospholipid transport|
|retinoid metabolic process|
|diterpenoid metabolic process|
|detection of external stimulus|
|terpenoid metabolic process|
|organophosphate ester transport|
|detection of abiotic stimulus|
|isoprenoid metabolic process|
|tissue homeostasis|
|visual perception|
|sensory perception of light stimulus|
|ATPase activity|
|lipid transport|
|response to light stimulus|
|lipid localization|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|response to radiation|
|organic anion transport|
|anion transport|
|intracellular membrane-bounded organelle|
|detection of stimulus|
|membrane organization|
|ion transmembrane transport|
|cellular lipid metabolic process|
|sensory perception|
|endoplasmic reticulum|
|response to abiotic stimulus|
|lipid metabolic process|
|transmembrane transport|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|ATP binding|
|homeostatic process|
|system process|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|1.8|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5340
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.51 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ABCA4 Expression in NALM6 Cells: -2.51'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>