Molecular Target Synopsis
Overview
Domains and Structures
Drugs and Clinical Candidates
Druggability
Chemistry
Ligand Efficiency Plot
Pathways
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
RNAi
Mutations
Germline Genetics

ABCA4 (P78363) - Overview - Molecular Target Synopsis

Protein


ABCA4, Retinal-specific ATP-binding cassette transporter
UniProt P78363

Also Known as ABCA4_HUMAN, ABCA4, ABCR

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.

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: ABCA4 is active in the following subcellular-locations: membrane.
GO terms: ABCA4 is active in the following subcellular-locations: integral component of plasma membrane, intracellular membrane-bounded organelle, membrane, photoreceptor disc membrane.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project ABCA4 has gain in 7 cell-lines, loss in 2 cell-lines and no signal in 996 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are: NCI_H460, OVCAR_3, LOXIMVI

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: NCI-H1623, RPMI 2650, KPL-4

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: SK-N-SH, NHLF, HSMM

(see details)

3D Structures


At greater than 50% identity similarity to ABCA4 there are:
1 structures (1 chains) solved
1 are solved in complex with at least one small molecule ligand



(see details)
Molecular Target 3D Synopsis

Screening and Chemistry


ABCA4 has been screened with compounds ( bioactivities). (see details)