General Information of Drug Transporter (DTP) (ID: DT195NK)

DTP Name ATP-binding cassette sub-family A member 5 (ABCA5)
Gene Name ABCA5
UniProt ID
Q8WWZ7 (ABCA5_HUMAN)
VARIDT ID
DTD0043
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Synonyms ABC13; ABCA5; EST90625; HTC3; KIAA1888
DTP Family ATP-Binding Cassette (ABC) Superfamily
Cholesterol/Phospholipid/Retinal (CPR) Flippase Family (ABCA)
Tissue Specificity Ubiquitously expressed. Highly expressed intestis, skeletal muscle, kidney, liver and placenta.
Sequence
MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEE
VPNIELNPMDKFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSL
SKPSNFVGVVFKDSMSYELRFFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASI
DAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYLVIAFSPFGYFLAIHI
VAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIF
LLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFS
PFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQV
IPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRI
SGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASI
YGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLL
DLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYR
KANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCAT
ESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLGVISYGVSMTT
LEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLW
KQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLY
FLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVM
HSEKDYVFAAVFNSTMVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIE
LYFQAALLGIIVTAMPPYFAMENAENHKIKAYTQLKLSGLLPSAYWIGQAVVDIPLFFII
LILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASFTFKKILNTKEFWSFI
YSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDT
YNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPD
NEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYIS
FCVKKGEILGLLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCP
QINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRK
LCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVC
DRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQ
ESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEED
NSCGTLNSTLWWERTQEDRVVF
Function This transporter may play a role in the processing of autolysosomes.
Endogenous Substrate(s) Lipids
TCDB ID
3.A.1.211.9
Gene ID
23461
KEGG Pathway
ABC transporters (hsa02010 )
Reactome Pathway
ABC transporters in lipid homeostasis (R-HSA-1369062 )

Molecular Interaction Atlas (MIA) of This DTP

Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DTP
1 Investigative Drug(s) Transported by This DTP
Drug Name Drug ID Indication ICD 11 Highest Status REF
Cholesterol DMR3J6S Discovery agent N.A. Investigative [1]
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Molecular Expression Atlas (MEA) of This DTP

Molecular Expression Atlas (MEA) Jump to Detail Molecular Expression Atlas of This DTP
Disease Name ICD 11 Studied Tissue p-value Fold-Change Z-score
Acute myelocytic leukaemia 2B33.1 Bone marrow 4.43E-32 -4.78E-01 -1.24E+00
Adrenocortical carcinoma 2D11.Z Kidney 2.63E-03 3.24E-01 8.70E-01
Alopecia ED70 Skin from scalp 1.22E-02 -1.92E-01 -5.23E-01
Alzheimer's disease 8A20 Entorhinal cortex 1.04E-02 -4.45E-02 -1.49E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 6.65E-01 9.31E-02 3.13E-01
Aortic stenosis BB70 Calcified aortic valve 2.12E-01 -6.72E-01 -7.00E-01
Apnea 7A40 Hyperplastic tonsil 6.42E-02 5.15E-01 1.57E+00
Arthropathy FA00-FA5Z Peripheral blood 2.05E-01 -8.92E-02 -3.40E-01
Asthma CA23 Nasal and bronchial airway 5.44E-02 -1.70E-01 -1.99E-01
Atopic dermatitis EA80 Skin 5.25E-02 2.79E-01 5.49E-01
Autism 6A02 Whole blood 6.15E-01 9.31E-02 1.65E-01
Autoimmune uveitis 9A96 Peripheral monocyte 9.52E-02 3.39E-01 1.17E+00
Autosomal dominant monocytopenia 4B04 Whole blood 1.05E-01 2.59E-01 9.19E-01
Bacterial infection of gingival 1C1H Gingival tissue 7.84E-08 -4.46E-01 -7.19E-01
Batten disease 5C56.1 Whole blood 5.35E-01 -1.57E-02 -6.16E-02
Behcet's disease 4A62 Peripheral blood 6.62E-01 -1.44E-01 -3.64E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 7.26E-01 -6.44E-03 -2.61E-02
Bladder cancer 2C94 Bladder tissue 3.43E-05 -1.16E+00 -2.98E+00
Breast cancer 2C60-2C6Z Breast tissue 2.16E-46 -5.66E-01 -1.09E+00
Cardioembolic stroke 8B11.20 Whole blood 1.26E-02 -1.15E-01 -2.74E-01
Cervical cancer 2C77 Cervical tissue 2.00E-04 -6.86E-01 -9.93E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 1.11E-02 -2.55E-01 -6.11E-01
Chronic hepatitis C 1E51.1 Whole blood 3.43E-01 -1.25E-01 -3.90E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 4.65E-01 1.76E-02 6.53E-02
Chronic obstructive pulmonary disease CA22 Small airway epithelium 5.80E-01 -7.47E-03 -1.40E-02
Chronic rhinosinusitis CA0A Sinus mucosa tissue 2.56E-01 -4.48E-01 -8.47E-01
Colon cancer 2B90 Colon tissue 2.67E-54 -1.18E+00 -1.86E+00
Coronary artery disease BA80-BA8Z Peripheral blood 9.78E-01 -1.01E-01 -4.08E-01
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 5.81E-01 5.61E-02 1.28E-01
Endometriosis GA10 Endometrium tissue 1.58E-01 -1.60E-01 -2.49E-01
Familial hypercholesterolemia 5C80.00 Peripheral blood 9.47E-01 -1.32E-01 -3.62E-01
Familial hypercholesterolemia 5C80.00 Whole blood 2.53E-10 -7.05E-01 -1.53E+00
Gastric cancer 2B72 Gastric tissue 2.80E-01 -1.49E+00 -1.15E+00
Glioblastopma 2A00.00 Nervous tissue 4.30E-61 -6.45E-01 -1.27E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 2.31E-03 -6.55E-01 -9.44E-01
Head and neck cancer 2D42 Head and neck tissue 2.04E-28 -1.37E+00 -1.71E+00
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 6.19E-01 1.23E-02 2.36E-02
Huntington's disease 8A01.10 Whole blood 1.06E-01 -1.24E-01 -5.61E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 1.70E-01 -2.84E-01 -1.25E+00
Immunodeficiency 4A00-4A20 Peripheral blood 4.61E-03 -4.60E-01 -4.45E+00
Influenza 1.00E+30 Whole blood 6.36E-01 -1.29E-01 -3.82E-01
Interstitial cystitis GC00.3 Bladder tissue 1.65E-01 -2.06E-01 -4.67E-01
Intracranial aneurysm 8B01.0 Intracranial artery 7.09E-07 -1.12E+00 -3.15E+00
Irritable bowel syndrome DD91.0 Rectal colon tissue 9.77E-01 9.90E-03 3.78E-02
Ischemic stroke 8B11 Peripheral blood 7.43E-01 -2.81E-02 -9.64E-02
Juvenile idiopathic arthritis FA24 Peripheral blood 9.48E-01 -4.42E-02 -9.60E-02
Lateral sclerosis 8B60.4 Cervical spinal cord 7.04E-01 -5.13E-02 -2.24E-01
Lateral sclerosis 8B60.4 Skin 6.66E-02 -3.45E-01 -9.06E-01
Liver cancer 2C12.0 Liver tissue 2.22E-04 -3.08E-01 -5.85E-01
Liver failure DB99.7-DB99.8 Liver tissue 2.95E-05 -1.68E+00 -3.30E+00
Lung cancer 2C25 Lung tissue 7.90E-01 8.92E-02 1.70E-01
Lupus erythematosus 4A40 Whole blood 1.95E-03 7.09E-01 5.32E-01
Major depressive disorder 6A70-6A7Z Whole blood 5.14E-01 -2.95E-02 -5.97E-02
Major depressive disorder 6A70-6A7Z Hippocampus 4.84E-01 8.44E-03 3.48E-02
Melanoma 2C30 Skin 2.18E-01 -4.82E-01 -3.64E-01
Multiple myeloma 2A83.1 Bone marrow 3.03E-01 1.00E-01 3.50E-01
Multiple myeloma 2A83.1 Peripheral blood 4.48E-01 3.58E-01 5.89E-01
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 3.58E-02 -5.59E-01 -8.80E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 3.15E-01 6.79E-02 2.04E-01
Myelofibrosis 2A20.2 Whole blood 7.22E-01 5.83E-02 2.61E-01
Myocardial infarction BA41-BA50 Peripheral blood 4.62E-02 -6.00E-01 -3.83E-01
Myopathy 8C70.6 Muscle tissue 9.94E-01 -9.26E-02 -2.96E-01
Neonatal sepsis KA60 Whole blood 4.31E-03 -1.02E-01 -1.74E-01
Neuroectodermal tumour 2A00.11 Brain stem tissue 8.94E-01 1.40E-01 2.69E-01
Non-alcoholic fatty liver disease DB92 Liver tissue 3.81E-01 1.82E-01 4.03E-01
Obesity related type 2 diabetes 5A11 Omental adipose tissue 6.62E-01 -3.80E-02 -1.41E-01
Olive pollen allergy CA08.00 Peripheral blood 2.42E-01 -5.01E-01 -5.51E-01
Oral cancer 2B6E Oral tissue 7.47E-03 -1.84E-01 -4.65E-01
Osteoarthritis FA00-FA0Z Synovial tissue 1.22E-02 -6.36E-01 -9.98E-01
Osteoporosis FB83.1 Bone marrow 6.31E-02 -2.89E-01 -6.98E-01
Ovarian cancer 2C73 Ovarian tissue 1.20E-02 -8.94E-01 -1.05E+00
Pancreatic cancer 2C10 Pancreas 1.02E-03 -3.26E-01 -7.00E-01
Parkinson's disease 8A00.0 Substantia nigra tissue 6.27E-01 -3.18E-01 -5.58E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.64E-03 -4.14E-01 -1.18E+00
Pituitary cancer 2D12 Pituitary tissue 4.23E-03 -7.45E-01 -2.15E+00
Pituitary gonadotrope tumour 2D12 Pituitary tissue 1.09E-03 -7.51E-01 -2.23E+00
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 2.15E-01 -2.62E-02 -1.19E-01
Polycythemia vera 2A20.4 Whole blood 5.84E-01 1.29E-02 6.00E-02
Pompe disease 5C51.3 Biceps muscle 6.09E-02 3.85E-01 1.19E+00
Preterm birth KA21.4Z Myometrium 6.99E-01 5.13E-02 2.89E-01
Prostate cancer 2C82 Prostate 5.28E-05 1.06E+00 1.33E+00
Psoriasis EA90 Skin 4.64E-03 3.99E-01 5.52E-01
Rectal cancer 2B92 Rectal colon tissue 5.02E-05 -6.92E-01 -3.52E+00
Renal cancer 2C90-2C91 Kidney 1.57E-02 1.43E-01 4.91E-01
Retinoblastoma 2D02.2 Uvea 9.54E-07 -1.16E+00 -4.25E+00
Rheumatoid arthritis FA20 Synovial tissue 7.28E-04 -1.25E+00 -2.54E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 9.48E-01 -1.68E-03 -5.29E-03
Schizophrenia 6A20 Prefrontal cortex 2.32E-02 -2.66E-01 -5.43E-01
Schizophrenia 6A20 Superior temporal cortex 9.37E-01 -4.56E-03 -2.64E-02
Scleroderma 4A42.Z Whole blood 5.96E-02 -2.69E-01 -1.20E+00
Seizure 8A60-8A6Z Whole blood 3.54E-01 9.50E-02 2.27E-01
Sensitive skin EK0Z Skin 2.76E-01 -2.05E-01 -8.19E-01
Sepsis with septic shock 1G41 Whole blood 6.18E-12 -2.70E-01 -4.90E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 4.25E-02 -4.32E-01 -8.36E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 2.75E-02 -4.98E-01 -1.04E+00
Simpson golabi behmel syndrome LD2C Adipose tissue 6.14E-01 -5.86E-03 -8.84E-03
Sjogren's syndrome 4A43.2 Salivary gland tissue 9.38E-02 2.39E-01 1.78E+00
Skin cancer 2C30-2C3Z Skin 3.95E-03 -2.09E-01 -2.44E-01
Thrombocythemia 3B63 Whole blood 9.85E-01 1.32E-02 6.18E-02
Thrombocytopenia 3B64 Whole blood 8.92E-01 -3.71E-01 -3.96E-01
Thyroid cancer 2D10 Thyroid 1.85E-07 -2.23E-01 -7.00E-01
Tibial muscular dystrophy 8C75 Muscle tissue 1.57E-04 -1.30E+00 -1.71E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 6.57E-02 -6.37E-01 -1.51E+00
Type 2 diabetes 5A11 Liver tissue 8.31E-01 -1.09E-01 -3.89E-01
Ureter cancer 2C92 Urothelium 2.27E-01 -2.84E-02 -1.98E-01
Uterine cancer 2C78 Endometrium tissue 1.97E-03 -2.80E-01 -3.10E-01
Vitiligo ED63.0 Skin 8.58E-01 4.38E-02 1.37E-01
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⏷ Show the Full List of Expression Under 107 Diseases

References

1 Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet. 2014 May 15;10(5):e1004333.