| Name | NEDD8-MDP1 readthrough |
| Description | This locus represents naturally occurring read-through transcription between the neighboring NEDD8 (neural precursor cell expressed, developmentally down-regulated 8) and MDP1 (magnesium-dependent phosphatase 1) genes on chromosome 14. One of the read-through transcripts on this locus encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Jul 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRDH12 is a short‐chain dehydrogenase/reductase that localizes predominantly to photoreceptor inner segments where it plays a nonredundant role in the visual cycle. Acting in concert with the outer segment enzyme RDH8, RDH12 catalyzes the reduction of all‑trans‑retinal—a highly reactive aldehyde—thus preventing its toxic accumulation and safeguarding intracellular organelles from aldehyde‐induced oxidative stress. In mouse models, loss of RDH12 delayed dark adaptation, accelerated 11‑cis‑retinal production, and increased susceptibility to light‑induced photoreceptor apoptosis, underlining its key role in regulating retinoid flow and protecting against light‑mediated damage."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn a distinct study examining genomic imprinting, a fusion involving the Snurf‑Snrpn locus revealed that perturbations in initiation codon usage can lead to marked increases in downstream ORF translation. Although this work focused primarily on imprinting mechanisms within the Prader‑Willi/Angelman domain rather than on RDH12 directly, it underscores the complexity of post‑transcriptional regulatory processes that may also impact the expression and function of retinal enzymes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established role in the retina, emerging evidence from RDH12‑deficient mice indicates systemic implications of its dysfunction. Alterations in RDH12 status not only affect retinoid metabolism but are also associated with disruptions in purine metabolism—manifesting as hyperuricemia and mild renal pathology. These findings suggest that RDH12 activity may extend to modulating metabolic pathways in organs such as the liver and kidney, thereby broadening the scope of its physiological importance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Akiko Maeda, Tadao Maeda, Yoshikazu Imanishi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M608375200"}], "href": "https://doi.org/10.1074/jbc.M608375200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17032653"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17032653"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ingo Kurth, Debra A Thompson, Klaus Rüther, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01486-06"}], "href": "https://doi.org/10.1128/MCB.01486-06"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17130236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17130236"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yogita Kanan, Lea D Wicker, Muayyad R Al-Ubaidi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.07-1207"}], "href": "https://doi.org/10.1167/iovs.07-1207"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18326732"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18326732"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jared D Chrispell, Kecia L Feathers, Maureen A Kane, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rdh12 activity and effects on retinoid processing in the murine retina."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.020966"}], "href": "https://doi.org/10.1074/jbc.M109.020966"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19506076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19506076"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chunhe Chen, Debra A Thompson, Yiannis Koutalos "}, {"type": "b", "children": [{"type": "t", "text": "Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.354514"}], "href": "https://doi.org/10.1074/jbc.M112.354514"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22621924"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22621924"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ting-Fen Tsai, Ken-Shiung Chen, John S Weber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/11.14.1659"}], "href": "https://doi.org/10.1093/hmg/11.14.1659"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12075010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12075010"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jiaxin Bian, Hongyu Chen, Junhui Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Retinol dehydrogenase 12 (RDH12) knock out may cause hyperuricemia phenotype in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2024.149809"}], "href": "https://doi.org/10.1016/j.bbrc.2024.149809"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38552555"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38552555"}]}]}]}
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| NCBI Gene ID | 100528064 |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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NEDD8-MDP1 has 1,397 functional associations with biological entities spanning 6 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 36 datasets.
Click the + buttons to view associations for NEDD8-MDP1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of NEDD8-MDP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of NEDD8-MDP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with NEDD8-MDP1 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEDD8-MDP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of NEDD8-MDP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of NEDD8-MDP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with NEDD8-MDP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of NEDD8-MDP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with NEDD8-MDP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with NEDD8-MDP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at NEDD8-MDP1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEDD8-MDP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of NEDD8-MDP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing NEDD8-MDP1 from the GeneSigDB Published Gene Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with NEDD8-MDP1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of NEDD8-MDP1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of NEDD8-MDP1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of NEDD8-MDP1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of NEDD8-MDP1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of NEDD8-MDP1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of NEDD8-MDP1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of NEDD8-MDP1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of NEDD8-MDP1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with NEDD8-MDP1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of NEDD8-MDP1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of NEDD8-MDP1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of NEDD8-MDP1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at NEDD8-MDP1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of NEDD8-MDP1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of NEDD8-MDP1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of NEDD8-MDP1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of NEDD8-MDP1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of NEDD8-MDP1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of NEDD8-MDP1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of NEDD8-MDP1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with NEDD8-MDP1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
