General Information of Drug Off-Target (DOT) (ID: OT65ZGE0)

DOT Name Homeobox protein HMX1 (HMX1)
Synonyms Homeobox protein H6
Gene Name HMX1
Related Disease
Oculoauricular syndrome ( )
Candidemia ( )
Inherited retinal dystrophy ( )
Microphthalmia ( )
Urinary tract infection ( )
Ear malformation ( )
Microphthalmia with limb anomalies ( )
Osteoarthritis ( )
UniProt ID
HMX1_HUMAN
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Pfam ID
PF00046
Sequence
MPDELTEPGRATPARASSFLIENLLAAEAKGAGRATQGDGSREDEEEDDDDPEDEDAEQA
RRRRLQRRRQLLAGTGPGGEARARALLGPGALGLGPRPPPGPGPPFALGCGGAARWYPRA
HGGYGGGLSPDTSDRDSPETGEEMGRAEGAWPRGPGPGAVQREAAELAARGPAAGTEEAS
ELAEVPAAAGETRGGVGVGGGRKKKTRTVFSRSQVFQLESTFDLKRYLSSAERAGLAASL
QLTETQVKIWFQNRRNKWKRQLAAELEAASLSPPGAQRLVRVPVLYHESPPAAAAAGPPA
TLPFPLAPAAPAPPPPLLGFSGALAYPLAAFPAAASVPFLRAQMPGLV
Function
DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.

Molecular Interaction Atlas (MIA) of This DOT

8 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Oculoauricular syndrome DIS7OH04 Definitive Autosomal recessive [1]
Candidemia DISVKFN7 Strong Biomarker [2]
Inherited retinal dystrophy DISGGL77 Strong Genetic Variation [3]
Microphthalmia DISGEBES Strong Biomarker [4]
Urinary tract infection DISMT6UV Strong Biomarker [2]
Ear malformation DISVJGPS moderate Genetic Variation [5]
Microphthalmia with limb anomalies DIS19E4H moderate Genetic Variation [5]
Osteoarthritis DIS05URM moderate Genetic Variation [5]
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⏷ Show the Full List of 8 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
2 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate increases the methylation of Homeobox protein HMX1 (HMX1). [6]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene affects the methylation of Homeobox protein HMX1 (HMX1). [9]
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5 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Selenium DM25CGV Approved Selenium increases the expression of Homeobox protein HMX1 (HMX1). [7]
Irinotecan DMP6SC2 Approved Irinotecan increases the expression of Homeobox protein HMX1 (HMX1). [8]
THAPSIGARGIN DMDMQIE Preclinical THAPSIGARGIN decreases the expression of Homeobox protein HMX1 (HMX1). [10]
Formaldehyde DM7Q6M0 Investigative Formaldehyde decreases the expression of Homeobox protein HMX1 (HMX1). [11]
Acetaldehyde DMJFKG4 Investigative Acetaldehyde increases the expression of Homeobox protein HMX1 (HMX1). [12]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 MiR-204/miR-211 downregulation contributes to candidemia-induced kidney injuries via derepression of Hmx1 expression.Life Sci. 2014 May 2;102(2):139-44. doi: 10.1016/j.lfs.2014.03.010. Epub 2014 Mar 15.
3 Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.Ophthalmic Genet. 2011 Jun;32(2):114-7. doi: 10.3109/13816810.2011.562955. Epub 2011 Mar 18.
4 Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass.BMC Dev Biol. 2009 Apr 20;9:27. doi: 10.1186/1471-213X-9-27.
5 Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Ophthalmic Genet. 2018 Apr;39(2):215-220. doi: 10.1080/13816810.2017.1401089. Epub 2017 Nov 15.
6 Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
7 Selenium and vitamin E: cell type- and intervention-specific tissue effects in prostate cancer. J Natl Cancer Inst. 2009 Mar 4;101(5):306-20.
8 Gene expression profile of colon cancer cell lines treated with SN-38. Chemotherapy. 2010;56(1):17-25. doi: 10.1159/000287353. Epub 2010 Feb 24.
9 Effect of aflatoxin B(1), benzo[a]pyrene, and methapyrilene on transcriptomic and epigenetic alterations in human liver HepaRG cells. Food Chem Toxicol. 2018 Nov;121:214-223. doi: 10.1016/j.fct.2018.08.034. Epub 2018 Aug 26.
10 Endoplasmic reticulum stress impairs insulin signaling through mitochondrial damage in SH-SY5Y cells. Neurosignals. 2012;20(4):265-80.
11 Cellular reactions to long-term volatile organic compound (VOC) exposures. Sci Rep. 2016 Dec 1;6:37842. doi: 10.1038/srep37842.
12 Transcriptome profile analysis of saturated aliphatic aldehydes reveals carbon number-specific molecules involved in pulmonary toxicity. Chem Res Toxicol. 2014 Aug 18;27(8):1362-70.