General Information of Drug Transporter (DTP) (ID: DTI8AFW)

DTP Name Peroxisomal membrane protein 1-like (ABCD4)
Gene Name ABCD4
UniProt ID
O14678 (ABCD4_HUMAN)
VARIDT ID
DTD0066
3D Structure
Download
2D Sequence (FASTA)
Download
3D Structure (PDB)
Download
Synonyms ABC41; ABCD4; ATP-binding cassette sub-family D member 4; EST352188; MAHCJ; P70R; P79R; PMP69; PMP70-related protein; PXMP1-L; PXMP1L; Peroxisomal membrane protein 69
DTP Family ATP-Binding Cassette (ABC) Superfamily ;
Tissue Specificity Ubiquitous.
Sequence
MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQV
GLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLH
RLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQ
STGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYR
AGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGD
LSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQD
CEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLIT
GNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKE
VYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYL
QPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWEL
MRIKVE
Function This transporter may be involved in intracellular processing of vitamin B12 (cobalamin) and it plays a role in the lysosomal release of vitamin B12 into the cytoplasm.
Endogenous Substrate(s) Cobalamin
TCDB ID
3.A.1.203.9
Gene ID
5826
KEGG Pathway
ABC transporters (hsa02010 )
Peroxisome (hsa04146 )
Reactome Pathway
Uptake of dietary cobalamins into enterocytes (R-HSA-9758881 )
Transport of RCbl within the body (R-HSA-9758890 )
Defective ABCD4 causes MAHCJ (R-HSA-5683329 )

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 1.76E-33 2.57E-01 1.39E+00
Adrenocortical carcinoma 2D11.Z Kidney 5.65E-02 -8.43E-02 -4.93E-01
Alopecia ED70 Skin from scalp 1.56E-01 1.12E-01 3.27E-01
Alzheimer's disease 8A20 Entorhinal cortex 3.49E-10 1.36E-01 6.44E-01
Ankylosing spondylitis FA92.0 Pheripheral blood 7.85E-01 -9.52E-03 -7.12E-02
Aortic stenosis BB70 Calcified aortic valve 5.79E-01 1.02E-01 1.83E-01
Apnea 7A40 Hyperplastic tonsil 2.60E-01 2.33E-01 1.22E+00
Arthropathy FA00-FA5Z Peripheral blood 4.84E-01 -1.06E-01 -7.24E-01
Asthma CA23 Nasal and bronchial airway 4.50E-01 -4.57E-02 -1.13E-01
Atopic dermatitis EA80 Skin 7.36E-03 9.94E-02 9.25E-01
Autism 6A02 Whole blood 6.22E-01 5.44E-02 3.30E-01
Autoimmune uveitis 9A96 Peripheral monocyte 2.49E-01 1.02E-01 1.00E+00
Autosomal dominant monocytopenia 4B04 Whole blood 7.26E-01 4.74E-02 3.36E-01
Bacterial infection of gingival 1C1H Gingival tissue 3.05E-02 5.22E-02 2.34E-01
Batten disease 5C56.1 Whole blood 4.14E-01 3.31E-02 2.31E-01
Behcet's disease 4A62 Peripheral blood 9.39E-01 -5.39E-02 -2.53E-01
Bipolar disorder 6A60-6A6Z Prefrontal cortex 6.91E-01 -1.43E-02 -9.58E-02
Bladder cancer 2C94 Bladder tissue 9.85E-04 2.61E-01 2.12E+00
Breast cancer 2C60-2C6Z Breast tissue 1.41E-45 -2.12E-01 -1.01E+00
Cardioembolic stroke 8B11.20 Whole blood 7.31E-02 -1.35E-01 -4.36E-01
Cervical cancer 2C77 Cervical tissue 3.39E-03 -7.76E-02 -3.31E-01
Childhood onset rheumatic disease FA20.Z Peripheral blood 8.95E-01 1.10E-02 4.59E-02
Chronic hepatitis C 1E51.1 Whole blood 2.30E-01 -4.53E-02 -3.54E-01
Chronic obstructive pulmonary disease CA22 Lung tissue 5.41E-01 -2.53E-02 -1.34E-01
Chronic obstructive pulmonary disease CA22 Small airway epithelium 3.96E-01 1.88E-02 1.34E-01
Chronic rhinosinusitis CA0A Sinus mucosa tissue 2.16E-01 -3.30E-02 -2.42E-01
Colon cancer 2B90 Colon tissue 6.57E-13 -1.20E-01 -6.58E-01
Coronary artery disease BA80-BA8Z Peripheral blood 8.25E-02 9.30E-02 1.24E+00
Diffuse large B-cell lymphoma 2A81 Tonsil tissue 1.08E-01 -2.11E-01 -7.54E-01
Endometriosis GA10 Endometrium tissue 6.44E-01 1.08E-02 6.94E-02
Familial hypercholesterolemia 5C80.00 Peripheral blood 2.48E-01 6.15E-02 5.43E-01
Familial hypercholesterolemia 5C80.00 Whole blood 1.30E-03 1.65E-01 8.28E-01
Gastric cancer 2B72 Gastric tissue 1.78E-01 -9.85E-02 -6.27E-01
Glioblastopma 2A00.00 Nervous tissue 5.69E-99 4.65E-01 1.63E+00
Glioma 2A00.0Y-2A00.0Z White matter tissue 8.09E-02 3.62E-01 6.98E-01
Head and neck cancer 2D42 Head and neck tissue 1.04E-04 -8.87E-02 -5.49E-01
HIV-associated neurocognitive impairment 8A2Y-8A2Z White matter tissue 2.52E-01 7.14E-02 2.90E-01
Huntington's disease 8A01.10 Whole blood 9.12E-01 -2.14E-02 -1.80E-01
Idiopathic pulmonary fibrosis CB03.4 Lung tissue 1.55E-01 2.01E-01 1.27E+00
Immunodeficiency 4A00-4A20 Peripheral blood 5.79E-04 -1.37E-01 -2.18E+00
Influenza 1.00E+30 Whole blood 2.81E-01 6.66E-02 1.40E+00
Interstitial cystitis GC00.3 Bladder tissue 1.74E-01 9.36E-02 1.09E+00
Intracranial aneurysm 8B01.0 Intracranial artery 2.55E-01 2.51E-02 1.39E-01
Irritable bowel syndrome DD91.0 Rectal colon tissue 6.17E-02 -1.11E-01 -3.66E-01
Ischemic stroke 8B11 Peripheral blood 8.00E-01 -2.14E-02 -1.24E-01
Juvenile idiopathic arthritis FA24 Peripheral blood 4.89E-04 -9.09E-02 -3.22E-01
Lateral sclerosis 8B60.4 Cervical spinal cord 9.09E-01 7.87E-02 2.42E-01
Lateral sclerosis 8B60.4 Skin 5.24E-01 2.11E-03 1.15E-02
Liver cancer 2C12.0 Liver tissue 1.41E-06 -2.91E-01 -1.09E+00
Liver failure DB99.7-DB99.8 Liver tissue 1.61E-01 -1.36E-01 -6.09E-01
Lung cancer 2C25 Lung tissue 6.77E-03 -3.59E-02 -2.25E-01
Lupus erythematosus 4A40 Whole blood 3.37E-03 -5.16E-02 -1.74E-01
Major depressive disorder 6A70-6A7Z Whole blood 2.85E-01 -7.12E-02 -2.51E-01
Major depressive disorder 6A70-6A7Z Hippocampus 8.82E-02 -6.75E-02 -4.81E-01
Melanoma 2C30 Skin 9.21E-02 2.73E-01 6.46E-01
Multiple myeloma 2A83.1 Bone marrow 2.06E-01 -3.88E-02 -2.22E-01
Multiple myeloma 2A83.1 Peripheral blood 1.67E-01 1.17E-01 7.07E-01
Multiple sclerosis 8A40 Plasmacytoid dendritic cells 3.01E-01 -6.74E-02 -4.73E-01
Myelodysplastic syndrome 2A36-2A3Z Bone marrow 8.81E-03 -1.16E-01 -6.76E-01
Myelofibrosis 2A20.2 Whole blood 6.17E-01 2.76E-02 3.11E-01
Myocardial infarction BA41-BA50 Peripheral blood 3.37E-01 1.60E-02 2.42E-02
Myopathy 8C70.6 Muscle tissue 2.49E-01 3.74E-02 2.58E-01
Neonatal sepsis KA60 Whole blood 7.12E-01 1.11E-02 5.45E-02
Neuroectodermal tumour 2A00.11 Brain stem tissue 1.73E-01 -1.32E-01 -5.54E-01
Non-alcoholic fatty liver disease DB92 Liver tissue 9.62E-01 1.77E-03 1.57E-02
Obesity related type 2 diabetes 5A11 Omental adipose tissue 8.54E-01 7.80E-02 7.79E-01
Olive pollen allergy CA08.00 Peripheral blood 1.44E-03 -1.54E-01 -3.62E+00
Oral cancer 2B6E Oral tissue 5.04E-02 -1.31E-01 -5.29E-01
Osteoarthritis FA00-FA0Z Synovial tissue 1.40E-01 1.89E-01 9.84E-01
Osteoporosis FB83.1 Bone marrow 1.06E-01 1.83E-01 8.19E-01
Ovarian cancer 2C73 Ovarian tissue 1.61E-02 -3.19E-01 -1.47E+00
Pancreatic cancer 2C10 Pancreas 4.20E-01 6.30E-02 2.64E-01
Parkinson's disease 8A00.0 Substantia nigra tissue 3.80E-02 1.49E-01 8.48E-01
Pediatric respiratory syncytial virus infection CA40.11 Peripheral blood 1.90E-03 -1.79E-01 -1.39E+00
Pituitary cancer 2D12 Pituitary tissue 1.88E-03 -2.88E-01 -1.53E+00
Pituitary gonadotrope tumour 2D12 Pituitary tissue 1.04E-01 -5.21E-02 -3.12E-01
Polycystic ovary syndrome 5A80.1 Vastus lateralis muscle 4.52E-01 -8.95E-03 -1.03E-01
Polycythemia vera 2A20.4 Whole blood 8.46E-02 1.64E-02 1.64E-01
Pompe disease 5C51.3 Biceps muscle 2.75E-01 9.46E-02 6.77E-01
Preterm birth KA21.4Z Myometrium 3.62E-01 1.39E-02 6.48E-02
Prostate cancer 2C82 Prostate 7.26E-07 -6.00E-01 -1.57E+00
Psoriasis EA90 Skin 1.95E-03 -3.86E-02 -1.56E-01
Rectal cancer 2B92 Rectal colon tissue 1.91E-02 -2.50E-01 -1.54E+00
Renal cancer 2C90-2C91 Kidney 3.09E-01 -1.20E-01 -5.58E-01
Retinoblastoma 2D02.2 Uvea 1.64E-05 3.18E-01 1.81E+00
Rheumatoid arthritis FA20 Synovial tissue 8.85E-03 2.73E-01 1.41E+00
Rhinovirus infection CA42.1 Nasal epithelium tissue 4.70E-01 -2.72E-02 -2.64E-01
Schizophrenia 6A20 Prefrontal cortex 5.70E-02 1.38E-01 4.96E-01
Schizophrenia 6A20 Superior temporal cortex 9.95E-01 -2.09E-03 -1.53E-02
Scleroderma 4A42.Z Whole blood 1.08E-04 -2.42E-01 -2.14E+00
Seizure 8A60-8A6Z Whole blood 7.83E-01 1.95E-02 1.24E-01
Sensitive skin EK0Z Skin 6.08E-01 -4.70E-02 -2.99E-01
Sepsis with septic shock 1G41 Whole blood 1.91E-09 -9.10E-02 -4.80E-01
Shwachman-Diamond syndrome 3A70.0 Bone marrow 1.19E-01 -3.39E-02 -2.66E-01
Sickle cell disease 3A51.0-3A51.3 Peripheral blood 6.05E-01 9.54E-02 4.80E-01
Simpson golabi behmel syndrome LD2C Adipose tissue 3.80E-01 -2.47E-01 -8.52E-01
Sjogren's syndrome 4A43.2 Salivary gland tissue 9.00E-01 -5.65E-02 -4.29E-01
Skin cancer 2C30-2C3Z Skin 7.64E-02 9.22E-03 3.34E-02
Thrombocythemia 3B63 Whole blood 7.46E-02 4.34E-02 4.77E-01
Thrombocytopenia 3B64 Whole blood 8.89E-01 7.48E-02 1.44E-01
Thyroid cancer 2D10 Thyroid 8.67E-04 4.38E-02 3.07E-01
Tibial muscular dystrophy 8C75 Muscle tissue 1.52E-04 3.40E-01 1.83E+00
Tuberous sclerosis complex LD2D.2 Perituberal tissue 1.71E-02 3.29E-01 3.68E+00
Type 2 diabetes 5A11 Liver tissue 2.49E-02 -1.36E-01 -1.42E+00
Ureter cancer 2C92 Urothelium 7.91E-01 -1.63E-02 -1.17E-01
Uterine cancer 2C78 Endometrium tissue 1.98E-13 -1.75E-01 -9.68E-01
Vitiligo ED63.0 Skin 7.58E-01 1.23E-02 1.07E-01
------------------------------------------------------------------------------------
⏷ Show the Full List of Expression Under 107 Diseases