ABCA4

Description		ATP binding cassette subfamily A member 4
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GO Annotations	Cellular Component	Photoreceptor Outer Segment Endoplasmic Reticulum Plasma Membrane Membrane Cytoplasmic Vesicle Cell Projection Intracellular Membrane-bounded Organelle Photoreceptor Disc Membrane Rod Photoreceptor Disc Membrane
	Molecular Function	Nucleotide Binding GTPase Activity Retinoid Binding 11-cis Retinal Binding All-trans Retinal Binding ATP Binding Phospholipid Transporter Activity Hydrolase Activity ATP Hydrolysis Activity Retinol Transmembrane Transporter Activity ATPase-coupled Transmembrane Transporter Activity Phosphatidylethanolamine Flippase Activity ATPase-coupled Intramembrane Lipid Transporter Activity Flippase Activity N-retinylidene-phosphatidylethanolamine Flippase Activity ABC-type Transporter Activity
	Biological Process	Retinoid Metabolic Process Phospholipid Transfer To Membrane Lipid Transport Visual Perception Phototransduction, Visible Light Organic Hydroxy Compound Transport Retinol Transport Retinal Metabolic Process Phospholipid Translocation Photoreceptor Cell Maintenance Transmembrane Transport
Pathways		The canonical retinoid cycle in rods (twilight vision) The canonical retinoid cycle in rods (twilight vision) ABC-family proteins mediated transport Defective visual phototransduction due to ABCA4 loss of function
Drugs
Diseases		Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA) Stargardt disease (STGD); Fundus flavimaculatus Retinitis pigmentosa (RP) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
GWAS		D-dimer levels ( 21502573) Dialysis-related mortality ( 21546767) Nonsyndromic cleft lip with cleft palate ( 28232668) Palmitoleic acid (16:1n-7) levels ( 23362303) Refractive error ( 32231278)
Novel Interacting Genes		2 novel interacting genes: ATP1A3 CNGB1
Interacting Genes		2 interacting genes: ATP1A3 CNGB1
Entrez ID		24
HPRD ID		03408
Ensembl ID		ENSG00000198691
Uniprot IDs		P78363
PDB IDs		7E7I 7E7O 7E7Q 7LKP 7LKZ 7M1P 7M1Q 8F5B
Enriched GO Terms of Interacting Partners?		Sodium Ion Transmembrane Transport Sodium Ion Transport Potassium Ion Transport Cyclic Nucleotide-activated Monoatomic Ion Channel Activity Olfactory Nerve Maturation Non-motile Cilium Membrane P-type Sodium:potassium-exchanging Transporter Activity Response To Glycoside Monoatomic Ion Homeostasis Photoreceptor Inner Segment Membrane Intracellular Monoatomic Ion Homeostasis Monoatomic Cation Homeostasis Regulation Of Membrane Potential Steroid Hormone Binding Intracellular Monoatomic Cation Homeostasis Inorganic Ion Homeostasis P-type Potassium Transmembrane Transporter Activity Nerve Maturation Response To Odorant Intracellularly CGMP-activated Cation Channel Activity Intracellular Cyclic Nucleotide Activated Cation Channel Complex Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Intracellular Chemical Homeostasis Neuron To Neuron Synapse Intracellularly CAMP-activated Cation Channel Activity Rod Photoreceptor Outer Segment Establishment Or Maintenance Of Transmembrane Electrochemical Gradient Sodium:potassium-exchanging ATPase Complex Monoatomic Cation Transmembrane Transport Metal Ion Transport Inorganic Cation Transmembrane Transport Cellular Homeostasis Regulation Of Resting Membrane Potential Neuron Projection Maintenance Inorganic Ion Transmembrane Transport Transmembrane Transporter Complex Photoreceptor Cell Outer Segment Organization Golgi-associated Vesicle Membrane Sodium Ion Export Across Plasma Membrane CGMP Binding Monoatomic Cation Transport Monoatomic Ion Transmembrane Transport Cell Communication By Electrical Coupling Involved In Cardiac Conduction Intracellular Potassium Ion Homeostasis Retina Homeostasis Cell Communication By Electrical Coupling Cell Communication Involved In Cardiac Conduction Intracellular Sodium Ion Homeostasis Chemical Homeostasis CAMP Binding
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