Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTS18IZ5)

DOT Name Blood group Rh(CE) polypeptide (RHCE)
Synonyms Rh polypeptide 1; RhPI; Rh30A; RhIXB; Rhesus C/E antigens; CD antigen CD240CE
Gene Name RHCE
Related Disease
Hereditary haemolytic anemia ( )
Atopic dermatitis ( )
Autism spectrum disorder ( )
Cardiac disease ( )
Neoplasm ( )
Pervasive developmental disorder ( )
Polymyalgia rheumatica ( )
Psoriatic arthritis ( )
Rheumatic heart disease ( )
Rheumatoid arthritis ( )
Sickle-cell anaemia ( )
Systemic sclerosis ( )
Skin cancer ( )
Rh deficiency syndrome ( )
Melanocytic nevus ( )
Melanoma ( )
Thalassemia ( )
UniProt ID
RHCE_HUMAN
3D Structure
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2D Sequence (FASTA)
Download
3D Structure (PDB)
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PDB ID
7UZQ; 7V0K; 7V0S; 8CRT; 8CS9; 8CSL; 8CSX; 8CTE
Pfam ID
PF00909
Sequence
MSSKYPRSVRRCLPLCALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAL
GLGFLTSNFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPPGKVVITLFSIRLATMSA
MSVLISAGAVLGKVNLAQLVVMVLVEVTALGTLRMVISNIFNTDYHMNLRHFYVFAAYFG
LTVAWCLPKPLPKGTEDNDQRATIPSLSAMLGALFLWMFWPSVNSALLRSPIQRKNAMFN
TYYALAVSVVTAISGSSLAHPQRKISMTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLV
AGLISIGGAKCLPVCCNRVLGIHHISVMHSIFSLLGLLGEITYIVLLVLHTVWNGNGMIG
FQVLLSIGELSLAIVIALTSGLLTGLLLNLKIWKAPHVAKYFDDQVFWKFPHLAVGF
Function
Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane. Mediates the primary membrane attachment site for ANK1 when associated with RHAG. May participate in the ammonium and carbon dioxide transport through the heterotrimer form (Probable).
Tissue Specificity Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts.
Reactome Pathway
Rhesus blood group biosynthesis (R-HSA-9037628 )

Molecular Interaction Atlas (MIA) of This DOT

17 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Hereditary haemolytic anemia DIS487SI Definitive Biomarker [1]
Atopic dermatitis DISTCP41 Strong Biomarker [2]
Autism spectrum disorder DISXK8NV Strong Genetic Variation [3]
Cardiac disease DISVO1I5 Strong Biomarker [4]
Neoplasm DISZKGEW Strong Altered Expression [5]
Pervasive developmental disorder DIS51975 Strong Genetic Variation [3]
Polymyalgia rheumatica DIS5F36E Strong Genetic Variation [6]
Psoriatic arthritis DISLWTG2 Strong Biomarker [6]
Rheumatic heart disease DISCI8JQ Strong Biomarker [7]
Rheumatoid arthritis DISTSB4J Strong Biomarker [6]
Sickle-cell anaemia DIS5YNZB Strong Genetic Variation [8]
Systemic sclerosis DISF44L6 Strong Biomarker [9]
Skin cancer DISTM18U moderate Genetic Variation [10]
Rh deficiency syndrome DISW2W1R Supportive Autosomal recessive [11]
Melanocytic nevus DISYS32D Limited Genetic Variation [12]
Melanoma DIS1RRCY Limited Genetic Variation [13]
Thalassemia DIS76XZB Limited Genetic Variation [14]
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⏷ Show the Full List of 17 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
4 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Triclosan DMZUR4N Approved Triclosan increases the expression of Blood group Rh(CE) polypeptide (RHCE). [15]
Marinol DM70IK5 Approved Marinol decreases the expression of Blood group Rh(CE) polypeptide (RHCE). [16]
Ethanol DMDRQZU Approved Ethanol decreases the expression of Blood group Rh(CE) polypeptide (RHCE). [17]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene decreases the expression of Blood group Rh(CE) polypeptide (RHCE). [18]
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References

1 Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood. 1998 Jul 15;92(2):664-71.
2 IL-1 induces thymic stromal lymphopoietin and an atopic dermatitis-like phenotype in reconstructed healthy human epidermis.J Pathol. 2017 Jun;242(2):234-245. doi: 10.1002/path.4887. Epub 2017 Apr 6.
3 The genetic basis of hair whorl, handedness, and other phenotypes.Med Hypotheses. 2006;66(4):708-14. doi: 10.1016/j.mehy.2005.10.010. Epub 2005 Dec 5.
4 The contribution of left heart disease in COPD patients with pulmonary hypertension.Hellenic J Cardiol. 2018 May-Jun;59(3):160-165. doi: 10.1016/j.hjc.2018.02.001. Epub 2018 Feb 20.
5 Treatment of a Malignant Soft Tissue Tumor Arising in the Vicinity of the Sciatic Nerve with an In-Situ Preparation Technique and Intensive Multidisciplinary Therapy.Cancers (Basel). 2019 Apr 10;11(4):506. doi: 10.3390/cancers11040506.
6 Incidence of rheumatoid arthritis, psoriatic arthritis and polymyalgia rheumatica in an inland area of central Italy: results of the CAMPO-RHE study.Postgrad Med. 2018 Jan;130(1):137-141. doi: 10.1080/00325481.2018.1399774. Epub 2017 Nov 3.
7 Molecular study of C(w) /C(x) antigens and frequency of Rh phenotypes in southeast Brazilian blood donors.J Clin Lab Anal. 2018 Oct;32(8):e22570. doi: 10.1002/jcla.22570. Epub 2018 Jun 21.
8 How do I incorporate red cell genotyping to improve chronic transfusion therapy?.Transfusion. 2020 Jan;60(1):16-25. doi: 10.1111/trf.15599. Epub 2019 Nov 23.
9 Echocardiographic assessment of regional right ventricular systolic function using two-dimensional strain echocardiography and evaluation of the predictive ability of longitudinal 2D-strain imaging for pulmonary arterial hypertension in systemic sclerosis patients.Int J Cardiovasc Imaging. 2018 Jun;34(6):883-892. doi: 10.1007/s10554-018-1299-z. Epub 2018 Jan 10.
10 Comprehensive evaluation of allele frequency differences of MC1R variants across populations.Hum Mutat. 2007 May;28(5):495-505. doi: 10.1002/humu.20476.
11 Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood. 1998 Jul 15;92(2):639-46.
12 Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.Cancer Epidemiol Biomarkers Prev. 2005 Oct;14(10):2384-90. doi: 10.1158/1055-9965.EPI-04-0777.
13 Palmitoylation-dependent activation of MC1R prevents melanomagenesis.Nature. 2017 Sep 21;549(7672):399-403. doi: 10.1038/nature23887. Epub 2017 Sep 6.
14 Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of 36 blood group alleles among 396 Thai samples reveals region-specific variants.Transfusion. 2018 Jul;58(7):1752-1762. doi: 10.1111/trf.14624. Epub 2018 Apr 15.
15 Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
16 THC exposure of human iPSC neurons impacts genes associated with neuropsychiatric disorders. Transl Psychiatry. 2018 Apr 25;8(1):89. doi: 10.1038/s41398-018-0137-3.
17 Chronic ethanol exposure increases goosecoid (GSC) expression in human embryonic carcinoma cell differentiation. J Appl Toxicol. 2014 Jan;34(1):66-75.
18 Identification of a transcriptomic signature of food-relevant genotoxins in human HepaRG hepatocarcinoma cells. Food Chem Toxicol. 2020 Jun;140:111297. doi: 10.1016/j.fct.2020.111297. Epub 2020 Mar 28.