Details of the Drug Transporter (DTP)

General Information of Drug Transporter (DTP) (ID: DTM4YG0)

• DTP Name: ATP-binding cassette sub-family A member 4 (ABCA4)
• Gene Name: ABCA4
• UniProt ID: P78363 (ABCA4_HUMAN)
• VARIDT ID: DTD0042
• Synonyms: ABC10; ABCA4; ABCR; ARMD2; CORD3; FFM; RIM ABC transporter; RIM protein; RP19; Retinal-specific ATP-binding cassette transporter; RmP; STGD; STGD1; Stargardt disease protein
• DTP Family:
  ATP-Binding Cassette (ABC) Superfamily
  Cholesterol/Phospholipid/Retinal (CPR) Flippase Family (ABCA)
• Tissue Specificity: Retinal-specific. Seems to be exclusivelyfound in the rims of rod photoreceptor cells.
• Sequence:
  MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA
  MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ
  HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL
  LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI
  EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT
  RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY
  SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE
  LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN
  FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS
  LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED
  FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV
  LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM
  HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF
  AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM
  QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL
  TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA
  FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV
  AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA
  KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC
  SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV
  LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS
  SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC
  SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP
  ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF
  GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP
  ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI
  SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN
  NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA
  VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG
  LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL
  FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR
  FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD
  VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT
  TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR
  GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG
  MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK
  FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ
  LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD
• Function: This transporter may play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. 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.
• Endogenous Substrate(s): N-retinylidene-phosphatidylethanolamine; Retinal
• TCDB ID: 3.A.1.211.2
• Gene ID: 24
• KEGG Pathway: ABC transporters (hsa02010)
• Reactome Pathway:
  The canonical retinoid cycle in rods (twilight vision) (R-HSA-2453902)
  ABC-family proteins mediated transport (R-HSA-382556)
  Retinoid cycle disease events (R-HSA-2453864)

Molecular Interaction Atlas (MIA) of This DTP

1 Investigative Drug(s) Transported by This DTP

Drug Name	Drug ID	Indication	ICD 11	Highest Status	REF
phosphatidylethanolamine	DMOPYWF	Discovery agent	N.A.	Investigative	[2]

Molecular Expression Atlas (MEA) of This DTP

Disease Name	ICD 11	Studied Tissue	p-value	Fold-Change	Z-score
Acute myelocytic leukaemia	2B33.1	Bone marrow	7.94E-01	-6.53E-03	-3.92E-02
Adrenocortical carcinoma	2D11.Z	Kidney	1.85E-01	-7.00E-02	-3.00E-01
Alopecia	ED70	Skin from scalp	1.06E-11	-6.02E-01	-1.62E+00
Alzheimer's disease	8A20	Entorhinal cortex	3.66E-04	-7.81E-02	-2.90E-01
Ankylosing spondylitis	FA92.0	Pheripheral blood	6.58E-01	-7.86E-02	-5.91E-01
Aortic stenosis	BB70	Calcified aortic valve	7.59E-01	1.76E-01	3.32E-01
Apnea	7A40	Hyperplastic tonsil	3.84E-01	-9.99E-03	-5.18E-02
Arthropathy	FA00-FA5Z	Peripheral blood	1.38E-01	2.80E-02	2.05E-01
Asthma	CA23	Nasal and bronchial airway	2.10E-01	1.88E-01	4.71E-01
Atopic dermatitis	EA80	Skin	7.75E-01	-6.37E-03	-3.71E-02
Autism	6A02	Whole blood	4.37E-01	-6.94E-02	-3.48E-01
Autoimmune uveitis	9A96	Peripheral monocyte	2.37E-03	-9.04E-02	-9.36E-01
Autosomal dominant monocytopenia	4B04	Whole blood	3.52E-01	-6.58E-02	-4.29E-01
Bacterial infection of gingival	1C1H	Gingival tissue	4.41E-01	-3.33E-02	-1.08E-01
Batten disease	5C56.1	Whole blood	4.99E-01	4.44E-02	2.97E-01
Behcet's disease	4A62	Peripheral blood	1.24E-01	2.84E-02	1.69E-01
Bipolar disorder	6A60-6A6Z	Prefrontal cortex	6.62E-01	-4.19E-02	-3.09E-01
Bladder cancer	2C94	Bladder tissue	4.81E-07	6.82E-01	5.00E+00
Breast cancer	2C60-2C6Z	Breast tissue	5.60E-06	-1.16E-01	-5.29E-01
Cardioembolic stroke	8B11.20	Whole blood	2.08E-02	1.49E-01	8.17E-01
Cervical cancer	2C77	Cervical tissue	3.24E-01	-1.01E-01	-5.38E-01
Childhood onset rheumatic disease	FA20.Z	Peripheral blood	4.02E-01	-8.01E-04	-3.49E-03
Chronic hepatitis C	1E51.1	Whole blood	5.13E-01	4.59E-02	3.89E-01
Chronic obstructive pulmonary disease	CA22	Lung tissue	1.91E-02	7.97E-02	4.95E-01
Chronic obstructive pulmonary disease	CA22	Small airway epithelium	3.08E-01	-3.30E-02	-1.96E-01
Chronic rhinosinusitis	CA0A	Sinus mucosa tissue	6.49E-01	-5.39E-02	-4.46E-01
Colon cancer	2B90	Colon tissue	2.53E-01	-1.25E-02	-6.24E-02
Coronary artery disease	BA80-BA8Z	Peripheral blood	8.51E-01	6.79E-02	2.84E-01
Diffuse large B-cell lymphoma	2A81	Tonsil tissue	9.18E-01	-2.42E-02	-1.51E-01
Endometriosis	GA10	Endometrium tissue	2.66E-01	5.18E-02	2.77E-01
Familial hypercholesterolemia	5C80.00	Peripheral blood	2.64E-01	1.44E-02	1.34E-01
Familial hypercholesterolemia	5C80.00	Whole blood	1.44E-05	-3.07E-01	-1.52E+00
Gastric cancer	2B72	Gastric tissue	2.05E-01	-2.87E-01	-1.23E+00
Glioblastopma	2A00.00	Nervous tissue	3.43E-02	-4.06E-02	-1.66E-01
Glioma	2A00.0Y-2A00.0Z	White matter tissue	1.22E-04	-4.35E-01	-1.68E+00
Head and neck cancer	2D42	Head and neck tissue	3.95E-03	-1.67E-01	-8.35E-01
HIV-associated neurocognitive impairment	8A2Y-8A2Z	White matter tissue	1.69E-01	-6.45E-02	-4.75E-01
Huntington's disease	8A01.10	Whole blood	4.36E-01	4.07E-02	2.72E-01
Idiopathic pulmonary fibrosis	CB03.4	Lung tissue	4.36E-03	1.47E-01	1.44E+00
Immunodeficiency	4A00-4A20	Peripheral blood	2.26E-01	1.32E-01	1.23E+00
Influenza	1.00E+30	Whole blood	3.47E-01	1.08E-01	5.33E-01
Interstitial cystitis	GC00.3	Bladder tissue	9.11E-01	-2.99E-02	-4.31E-01
Intracranial aneurysm	8B01.0	Intracranial artery	4.61E-01	1.52E-01	6.83E-01
Irritable bowel syndrome	DD91.0	Rectal colon tissue	2.55E-01	3.38E-02	1.66E-01
Ischemic stroke	8B11	Peripheral blood	5.10E-02	9.73E-02	7.45E-01
Juvenile idiopathic arthritis	FA24	Peripheral blood	2.74E-01	6.04E-03	2.60E-02
Lateral sclerosis	8B60.4	Cervical spinal cord	4.75E-02	-5.22E-02	-2.02E-01
Lateral sclerosis	8B60.4	Skin	1.29E-01	1.62E-01	8.32E-01
Liver cancer	2C12.0	Liver tissue	2.40E-05	-1.80E-01	-8.65E-01
Liver failure	DB99.7-DB99.8	Liver tissue	2.80E-01	-1.42E-01	-1.06E+00
Lung cancer	2C25	Lung tissue	2.30E-36	1.10E-01	5.61E-01
Lupus erythematosus	4A40	Whole blood	3.62E-02	-9.99E-02	-2.82E-01
Major depressive disorder	6A70-6A7Z	Whole blood	2.07E-01	5.48E-02	2.28E-01
Major depressive disorder	6A70-6A7Z	Hippocampus	6.13E-01	-7.16E-03	-5.15E-02
Melanoma	2C30	Skin	2.67E-06	-6.69E-01	-1.12E+00
Multiple myeloma	2A83.1	Bone marrow	1.08E-03	-2.36E-01	-1.85E+00
Multiple myeloma	2A83.1	Peripheral blood	8.33E-01	3.45E-02	1.97E-01
Multiple sclerosis	8A40	Plasmacytoid dendritic cells	6.29E-01	-1.97E-02	-6.46E-02
Myelodysplastic syndrome	2A36-2A3Z	Bone marrow	1.75E-01	-3.82E-02	-2.88E-01
Myelofibrosis	2A20.2	Whole blood	3.86E-01	-2.50E-02	-1.86E-01
Myocardial infarction	BA41-BA50	Peripheral blood	7.52E-02	4.56E-02	1.72E-01
Myopathy	8C70.6	Muscle tissue	1.01E-02	-1.16E-01	-7.19E-01
Neonatal sepsis	KA60	Whole blood	1.92E-01	5.15E-02	2.49E-01
Neuroectodermal tumour	2A00.11	Brain stem tissue	6.08E-02	-3.40E-01	-1.39E+00
Non-alcoholic fatty liver disease	DB92	Liver tissue	6.33E-01	-1.06E-01	-1.62E+00
Obesity related type 2 diabetes	5A11	Omental adipose tissue	2.31E-01	9.34E-02	1.00E+00
Olive pollen allergy	CA08.00	Peripheral blood	3.61E-01	1.67E-01	7.81E-01
Oral cancer	2B6E	Oral tissue	9.50E-03	-1.03E-01	-4.42E-01
Osteoarthritis	FA00-FA0Z	Synovial tissue	3.95E-01	1.51E-01	4.71E-01
Osteoporosis	FB83.1	Bone marrow	5.60E-02	2.30E-01	1.83E+00
Ovarian cancer	2C73	Ovarian tissue	8.87E-03	1.33E-01	7.25E-01
Pancreatic cancer	2C10	Pancreas	2.79E-03	-3.23E-01	-1.11E+00
Parkinson's disease	8A00.0	Substantia nigra tissue	7.51E-01	-5.77E-02	-3.94E-01
Pediatric respiratory syncytial virus infection	CA40.11	Peripheral blood	4.11E-01	-4.96E-02	-4.01E-01
Pituitary cancer	2D12	Pituitary tissue	8.08E-01	3.95E-02	1.62E-01
Pituitary gonadotrope tumour	2D12	Pituitary tissue	4.59E-01	-1.30E-02	-1.04E-01
Polycystic ovary syndrome	5A80.1	Vastus lateralis muscle	2.54E-01	4.14E-02	2.95E-01
Polycythemia vera	2A20.4	Whole blood	2.45E-05	8.91E-02	5.78E-01
Pompe disease	5C51.3	Biceps muscle	4.62E-01	-7.12E-02	-5.70E-01
Preterm birth	KA21.4Z	Myometrium	5.13E-01	8.90E-03	5.59E-02
Prostate cancer	2C82	Prostate	1.69E-02	-2.69E-01	-7.61E-01
Psoriasis	EA90	Skin	1.51E-01	-9.47E-02	-2.71E-01
Rectal cancer	2B92	Rectal colon tissue	1.70E-01	1.81E-02	9.36E-02
Renal cancer	2C90-2C91	Kidney	5.68E-05	-5.13E-01	-1.92E+00
Retinoblastoma	2D02.2	Uvea	4.72E-14	-4.30E+00	-1.04E+01
Rheumatoid arthritis	FA20	Synovial tissue	9.67E-01	6.73E-02	3.11E-01
Rhinovirus infection	CA42.1	Nasal epithelium tissue	1.20E-01	-2.84E-02	-2.00E-01
Schizophrenia	6A20	Prefrontal cortex	4.06E-01	4.50E-02	2.36E-01
Schizophrenia	6A20	Superior temporal cortex	4.44E-01	-4.13E-02	-4.11E-01
Scleroderma	4A42.Z	Whole blood	7.98E-03	1.19E-01	1.18E+00
Seizure	8A60-8A6Z	Whole blood	9.45E-01	2.43E-02	1.20E-01
Sensitive skin	EK0Z	Skin	7.24E-01	-3.46E-02	-2.48E-01
Sepsis with septic shock	1G41	Whole blood	1.52E-07	1.29E-01	5.83E-01
Shwachman-Diamond syndrome	3A70.0	Bone marrow	1.36E-01	3.32E-01	9.97E-01
Sickle cell disease	3A51.0-3A51.3	Peripheral blood	5.07E-02	1.27E-01	7.86E-01
Simpson golabi behmel syndrome	LD2C	Adipose tissue	2.72E-01	-8.96E-02	-1.54E+00
Sjogren's syndrome	4A43.2	Salivary gland tissue	3.06E-01	-1.22E-01	-8.13E-01
Skin cancer	2C30-2C3Z	Skin	4.39E-12	-2.78E-01	-7.04E-01
Thrombocythemia	3B63	Whole blood	2.71E-02	1.34E-01	1.01E+00
Thrombocytopenia	3B64	Whole blood	4.97E-01	-1.07E-02	-8.40E-02
Thyroid cancer	2D10	Thyroid	1.27E-01	4.09E-02	1.90E-01
Tibial muscular dystrophy	8C75	Muscle tissue	6.77E-02	-1.08E-01	-5.82E-01
Tuberous sclerosis complex	LD2D.2	Perituberal tissue	2.07E-01	1.30E-01	1.44E+00
Type 2 diabetes	5A11	Liver tissue	1.46E-01	5.33E-02	1.10E+00
Ureter cancer	2C92	Urothelium	7.23E-01	8.39E-02	7.56E-01
Uterine cancer	2C78	Endometrium tissue	5.84E-01	-5.65E-02	-2.83E-01
Vitiligo	ED63.0	Skin	4.87E-01	-2.95E-01	-8.62E-01

The Drug Therapeutic Target (DTT) Role of This DTP

• DTP DTT Name: ATP-binding cassette transporter A4 (ABCA4) DTT Info
• DTP DTT Type: Clinical trial

1 Clinical Trial Drug(s) Targeting This DTP

Drug Name	Drug ID	Indication	ICD 11	Highest Status	REF
StarGen	DMX3CNS	Retinitis pigmentosa	9B70	Phase 1/2	[1]

References

• [1] Clinical pipeline report, company report or official report of Oxford BioMedica.
• [2] The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease. Adv Exp Med Biol. 2010;703:105-25.