Details of the Drug Transporter (DTP)

General Information of Drug Transporter (DTP) (ID: DT2T6VQ)

• DTP Name: ATP-binding cassette sub-family A member 3 (ABCA3)
• Gene Name: ABCA3
• UniProt ID: Q99758 (ABCA3_HUMAN)
• VARIDT ID: DTD0041
• Synonyms: ABC-C transporter; ATP-binding cassette transporter 3; ATP-binding cassette 3; ABC3
• DTP Family:
  ATP-Binding Cassette (ABC) Superfamily
  Cholesterol/Phospholipid/Retinal (CPR) Flippase Family (ABCA)
• Tissue Specificity: Highly expressed in lung, followed by brain,pancreas, skeletal muscle and heart. Weakly expressed in placenta,kidney and liver. Also expressed in medullary thyroid carcinomacells (MTC) and in C-cell carcinoma.
• Sequence:
  MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQ
  SIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYI
  RYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWH
  TTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTV
  TIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS
  SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISF
  SFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ
  LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGV
  PQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFR
  VGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD
  MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNS
  RSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTT
  HFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHH
  VPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG
  KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG
  LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTL
  GEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFN
  ERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQP
  RSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVAS
  FWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN
  FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA
  VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLIL
  LFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTP
  LIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDA
  FVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR
  GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARA
  RESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQ
  QEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV
  SQISLEQVFLSFAHLQPPTAEEGR
• Function: This transporter plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.
• Endogenous Substrate(s): lipids, proteins
• TCDB ID: 3.A.1.211.5
• Gene ID: 21
• KEGG Pathway: ABC transporters (hsa02010)
• Reactome Pathway:
  Defective ABCA3 causes SMDP3 (R-HSA-5683678)
  Surfactant metabolism (R-HSA-5683826)
  Defective ABCA3 causes SMDP3 (R-HSA-5688399)
  ABC transporters in lipid homeostasis (R-HSA-1369062)

Molecular Interaction Atlas (MIA) of This DTP

1 Approved Drug(s) Transported by This DTP

Drug Name	Drug ID	Indication	ICD 11	Highest Status	REF
Mitoxantrone	DMM39BF	Acute myelogenous leukaemia	2A41	Approved	[1]

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	4.69E-05	9.48E-02	4.17E-01
Adrenocortical carcinoma	2D11.Z	Kidney	1.30E-01	8.44E-02	2.53E-01
Alopecia	ED70	Skin from scalp	8.97E-02	1.39E-01	3.69E-01
Alzheimer's disease	8A20	Entorhinal cortex	6.75E-07	-1.10E-01	-6.01E-01
Ankylosing spondylitis	FA92.0	Pheripheral blood	9.22E-01	4.78E-02	2.67E-01
Aortic stenosis	BB70	Calcified aortic valve	9.09E-02	-2.25E-01	-8.14E-01
Apnea	7A40	Hyperplastic tonsil	3.82E-01	3.34E-01	1.10E+00
Arthropathy	FA00-FA5Z	Peripheral blood	8.04E-01	1.06E-03	6.02E-03
Asthma	CA23	Nasal and bronchial airway	3.64E-01	-3.06E-02	-7.13E-02
Atopic dermatitis	EA80	Skin	2.41E-02	4.23E-01	1.26E+00
Autism	6A02	Whole blood	3.24E-01	-1.01E-01	-3.68E-01
Autoimmune uveitis	9A96	Peripheral monocyte	7.27E-03	-2.51E-01	-1.59E+00
Autosomal dominant monocytopenia	4B04	Whole blood	6.54E-01	5.13E-03	4.59E-02
Bacterial infection of gingival	1C1H	Gingival tissue	5.48E-02	9.87E-02	3.12E-01
Batten disease	5C56.1	Whole blood	9.10E-02	2.38E-01	1.31E+00
Behcet's disease	4A62	Peripheral blood	7.01E-01	1.04E-01	5.67E-01
Bipolar disorder	6A60-6A6Z	Prefrontal cortex	5.83E-01	4.50E-02	2.18E-01
Bladder cancer	2C94	Bladder tissue	6.84E-01	-3.15E-01	-7.08E-01
Breast cancer	2C60-2C6Z	Breast tissue	1.66E-38	4.64E-01	1.02E+00
Cardioembolic stroke	8B11.20	Whole blood	1.43E-02	-1.78E-01	-6.37E-01
Cervical cancer	2C77	Cervical tissue	6.65E-01	-1.02E-02	-2.41E-02
Childhood onset rheumatic disease	FA20.Z	Peripheral blood	5.02E-01	9.73E-03	5.61E-02
Chronic hepatitis C	1E51.1	Whole blood	2.92E-01	3.60E-03	1.68E-02
Chronic obstructive pulmonary disease	CA22	Lung tissue	6.04E-02	-1.26E-01	-2.83E-01
Chronic obstructive pulmonary disease	CA22	Small airway epithelium	9.58E-03	1.30E-01	3.84E-01
Chronic rhinosinusitis	CA0A	Sinus mucosa tissue	5.18E-01	-1.07E-01	-7.39E-01
Colon cancer	2B90	Colon tissue	2.70E-02	-9.65E-02	-3.22E-01
Coronary artery disease	BA80-BA8Z	Peripheral blood	1.71E-01	2.61E-01	1.00E+00
Diffuse large B-cell lymphoma	2A81	Tonsil tissue	7.69E-01	-2.25E-02	-5.00E-02
Endometriosis	GA10	Endometrium tissue	7.99E-01	4.47E-02	1.11E-01
Familial hypercholesterolemia	5C80.00	Peripheral blood	9.53E-01	-1.46E-02	-1.52E-01
Familial hypercholesterolemia	5C80.00	Whole blood	3.73E-04	-3.18E-01	-9.24E-01
Gastric cancer	2B72	Gastric tissue	5.51E-01	-2.11E-01	-6.30E-01
Glioblastopma	2A00.00	Nervous tissue	2.56E-52	-4.71E-01	-1.15E+00
Glioma	2A00.0Y-2A00.0Z	White matter tissue	3.61E-04	5.75E-01	1.35E+00
Head and neck cancer	2D42	Head and neck tissue	2.18E-08	-4.39E-01	-1.59E+00
HIV-associated neurocognitive impairment	8A2Y-8A2Z	White matter tissue	1.05E-01	1.22E-01	2.46E-01
Huntington's disease	8A01.10	Whole blood	4.02E-01	-3.10E-02	-9.93E-02
Idiopathic pulmonary fibrosis	CB03.4	Lung tissue	3.32E-02	-3.50E-01	-9.39E-01
Immunodeficiency	4A00-4A20	Peripheral blood	5.03E-03	-1.84E-01	-1.31E+00
Influenza	1.00E+30	Whole blood	2.54E-01	1.93E-02	2.06E-01
Interstitial cystitis	GC00.3	Bladder tissue	1.91E-02	3.00E-01	1.75E+00
Intracranial aneurysm	8B01.0	Intracranial artery	4.43E-02	-2.89E-01	-6.57E-01
Irritable bowel syndrome	DD91.0	Rectal colon tissue	7.37E-01	-8.10E-04	-5.33E-03
Ischemic stroke	8B11	Peripheral blood	1.36E-01	1.04E-01	4.11E-01
Juvenile idiopathic arthritis	FA24	Peripheral blood	5.64E-01	-2.38E-02	-8.40E-02
Lateral sclerosis	8B60.4	Cervical spinal cord	5.85E-01	7.06E-02	1.06E-01
Lateral sclerosis	8B60.4	Skin	9.49E-01	-3.72E-03	-4.83E-02
Liver cancer	2C12.0	Liver tissue	2.54E-01	2.39E-03	8.92E-03
Liver failure	DB99.7-DB99.8	Liver tissue	3.06E-02	2.25E-01	1.21E+00
Lung cancer	2C25	Lung tissue	6.37E-167	-2.21E+00	-4.19E+00
Lupus erythematosus	4A40	Whole blood	2.05E-01	-8.35E-03	-2.64E-02
Major depressive disorder	6A70-6A7Z	Whole blood	7.49E-01	1.94E-02	9.69E-02
Major depressive disorder	6A70-6A7Z	Hippocampus	2.03E-01	1.00E-01	4.77E-01
Melanoma	2C30	Skin	3.28E-02	-4.70E-01	-5.52E-01
Multiple myeloma	2A83.1	Bone marrow	8.90E-05	3.64E-01	2.37E+00
Multiple myeloma	2A83.1	Peripheral blood	7.89E-01	7.34E-02	3.75E-01
Multiple sclerosis	8A40	Plasmacytoid dendritic cells	5.45E-01	1.70E-01	5.20E-01
Myelodysplastic syndrome	2A36-2A3Z	Bone marrow	1.71E-05	1.49E-01	5.99E-01
Myelofibrosis	2A20.2	Whole blood	5.16E-01	-6.14E-02	-3.54E-01
Myocardial infarction	BA41-BA50	Peripheral blood	5.01E-01	-5.05E-02	-1.04E-01
Myopathy	8C70.6	Muscle tissue	8.24E-02	-1.38E-01	-9.56E-01
Neonatal sepsis	KA60	Whole blood	6.33E-05	-1.45E-01	-5.40E-01
Neuroectodermal tumour	2A00.11	Brain stem tissue	3.38E-01	1.05E-01	3.59E-01
Non-alcoholic fatty liver disease	DB92	Liver tissue	2.20E-01	-2.25E-01	-8.56E-01
Obesity related type 2 diabetes	5A11	Omental adipose tissue	5.06E-01	-8.48E-02	-5.57E-01
Olive pollen allergy	CA08.00	Peripheral blood	4.30E-01	7.18E-02	5.12E-01
Oral cancer	2B6E	Oral tissue	9.46E-06	-4.68E-01	-9.67E-01
Osteoarthritis	FA00-FA0Z	Synovial tissue	4.08E-01	5.42E-02	1.81E-01
Osteoporosis	FB83.1	Bone marrow	7.73E-02	2.86E-01	1.18E+00
Ovarian cancer	2C73	Ovarian tissue	1.59E-01	2.95E-01	4.07E-01
Pancreatic cancer	2C10	Pancreas	4.09E-05	-5.88E-01	-1.53E+00
Parkinson's disease	8A00.0	Substantia nigra tissue	7.48E-01	-9.25E-02	-2.76E-01
Pediatric respiratory syncytial virus infection	CA40.11	Peripheral blood	2.67E-02	-1.15E-01	-8.39E-01
Pituitary cancer	2D12	Pituitary tissue	2.82E-08	7.33E-01	2.58E+00
Pituitary gonadotrope tumour	2D12	Pituitary tissue	8.47E-06	7.02E-01	2.52E+00
Polycystic ovary syndrome	5A80.1	Vastus lateralis muscle	4.66E-03	2.13E-01	1.17E+00
Polycythemia vera	2A20.4	Whole blood	9.81E-01	-3.84E-02	-1.92E-01
Pompe disease	5C51.3	Biceps muscle	9.12E-05	5.41E-01	3.07E+00
Preterm birth	KA21.4Z	Myometrium	6.35E-01	-1.36E-01	-3.07E-01
Prostate cancer	2C82	Prostate	6.87E-06	6.10E-01	1.03E+00
Psoriasis	EA90	Skin	1.87E-21	-4.87E-01	-1.59E+00
Rectal cancer	2B92	Rectal colon tissue	4.45E-03	-2.56E-01	-1.75E+00
Renal cancer	2C90-2C91	Kidney	5.44E-05	6.15E-01	1.79E+00
Retinoblastoma	2D02.2	Uvea	3.97E-08	-1.62E+00	-5.16E+00
Rheumatoid arthritis	FA20	Synovial tissue	1.13E-03	-4.21E-01	-2.01E+00
Rhinovirus infection	CA42.1	Nasal epithelium tissue	2.98E-01	-4.24E-02	-2.79E-01
Schizophrenia	6A20	Prefrontal cortex	9.99E-02	-1.52E-01	-1.70E-01
Schizophrenia	6A20	Superior temporal cortex	5.30E-01	1.16E-02	9.36E-02
Scleroderma	4A42.Z	Whole blood	3.27E-04	4.01E-01	2.21E+00
Seizure	8A60-8A6Z	Whole blood	2.34E-01	-1.72E-01	-7.62E-01
Sensitive skin	EK0Z	Skin	1.89E-01	-1.79E-01	-1.21E+00
Sepsis with septic shock	1G41	Whole blood	1.16E-05	-1.06E-01	-3.97E-01
Shwachman-Diamond syndrome	3A70.0	Bone marrow	8.56E-01	6.62E-02	4.33E-01
Sickle cell disease	3A51.0-3A51.3	Peripheral blood	2.34E-01	7.75E-02	2.51E-01
Simpson golabi behmel syndrome	LD2C	Adipose tissue	5.77E-01	2.96E-02	1.08E-01
Sjogren's syndrome	4A43.2	Salivary gland tissue	7.65E-01	-1.54E-01	-6.63E-01
Skin cancer	2C30-2C3Z	Skin	6.74E-04	-1.83E-01	-4.76E-01
Thrombocythemia	3B63	Whole blood	9.64E-01	-1.49E-02	-8.57E-02
Thrombocytopenia	3B64	Whole blood	8.51E-01	5.50E-02	5.78E-02
Thyroid cancer	2D10	Thyroid	4.08E-07	-3.07E-01	-7.87E-01
Tibial muscular dystrophy	8C75	Muscle tissue	1.91E-03	-3.06E-01	-1.17E+00
Tuberous sclerosis complex	LD2D.2	Perituberal tissue	8.87E-01	-5.91E-02	-1.45E+00
Type 2 diabetes	5A11	Liver tissue	2.72E-01	-8.74E-02	-3.20E-01
Ureter cancer	2C92	Urothelium	3.22E-01	-1.03E-01	-4.65E-01
Uterine cancer	2C78	Endometrium tissue	8.06E-03	-1.79E-01	-3.14E-01
Vitiligo	ED63.0	Skin	6.53E-01	-1.60E-01	-5.23E-01

References

• [1] A distinct "side population" of cells with high drug efflux capacity in human tumor cells. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14228-33.