TOPAZ1 Gene

Name testis and ovary specific PAZ domain containing 1
Description Predicted to be involved in spermatocyte division. Predicted to act upstream of or within apoptotic process; ectopic germ cell programmed cell death; and lncRNA transcription. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe studies provided describe the multifunctional roles of the estrogen receptor coregulator PELP1. In breast cancer cells, PELP1 sensitizes estrogen (E2) signaling, promotes cell cycle progression by facilitating hyperphosphorylation of pRb at specific residues (Ser‑807/Ser‑811) and interacts directly with pRb via its C-terminal pocket domain. Moreover, beyond functioning strictly as a coactivator of estrogen receptor (ER)–mediated transcription, PELP1 has been shown to serve as a corepressor of various nuclear receptors and transcription factors by modulating chromatin acetylation states. This dual capacity relies in part on its interactions with histone modifying enzymes such as HDAC2, whereby it maintains a hypoacetylated state at target gene promoters."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional investigations have identified that PELP1 acts as a crucial scaffold within larger nuclear complexes. For instance, its role as the core of the 5FMC complex demonstrates how arginine methylation by Prmt1 allows recruitment of associated proteins—linking methylation to subsequent SUMOylation events that regulate transcription factor activity. In neural tissues, PELP1 is essential for extranuclear signaling pathways initiated by E2; its interactions with kinases like ERK and Akt, as well as with GSK3β (which directly phosphorylates PELP1), underscore its importance in mediating neuroprotection and preserving cognitive function after ischemic events."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFinally, PELP1 deregulation in vivo has been implicated in altered mammary gland morphogenesis and tumor progression. Its overexpression drives hyperproliferation, precocious side branching, and early preneoplastic changes in mammary tissues, in part via an autocrine CDK‐cyclin D1–dependent mechanism. In this oncogenic context, pharmacological targeting of PELP1’s interactions with histone modifiers such as KDM1 shows promise in reducing tumorigenic features. Although an additional study highlighted miR‑195‑5p in the regulation of pyroptosis during testicular ischemia/reperfusion injury, its connection to PELP1 remains to be defined."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Seetharaman Balasenthil, Ratna K Vadlamudi "}, {"type": "b", "children": [{"type": "t", "text": "Functional interactions between the estrogen receptor coactivator PELP1/MNAR and retinoblastoma protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M212822200"}], "href": "https://doi.org/10.1074/jbc.M212822200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12682072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12682072"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Young Bong Choi, Jin Kyoung Ko, Jaekyoon Shin "}, {"type": "b", "children": [{"type": "t", "text": "The transcriptional corepressor, PELP1, recruits HDAC2 and masks histones using two separate domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M406831200"}], "href": "https://doi.org/10.1074/jbc.M406831200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15456770"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15456770"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Pavlos Fanis, Nynke Gillemans, Ali Aghajanirefah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Proteomics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/mcp.M112.017194"}], "href": "https://doi.org/10.1074/mcp.M112.017194"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22872859"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22872859"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Gangadhara R Sareddy, Quanguang Zhang, Ruimin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proline-, glutamic acid-, and leucine-rich protein 1 mediates estrogen rapid signaling and neuroprotection in the brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1516729112"}], "href": "https://doi.org/10.1073/pnas.1516729112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26627258"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26627258"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Valerie Cortez, Cathy Samayoa, Andrea Zamora, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PELP1 overexpression in the mouse mammary gland results in the development of hyperplasia and carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-14-0993"}], "href": "https://doi.org/10.1158/0008-5472.CAN-14-0993"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25377474"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25377474"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kai-Xiang He, Lizhe Xu, Jin-Zhuo Ning, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-195-5p is involved in testicular ischemia/reperfusion injury by directly targeting PELP1 and regulating spermatogonia pyroptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int Immunopharmacol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.intimp.2023.110427"}], "href": "https://doi.org/10.1016/j.intimp.2023.110427"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37290329"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37290329"}]}]}]}
Synonyms C3ORF77
Proteins TOPZ1_HUMAN
NCBI Gene ID 375337
API
Download Associations
Predicted Functions View TOPAZ1's ARCHS4 Predicted Functions.
Co-expressed Genes View TOPAZ1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View TOPAZ1's ARCHS4 Predicted Functions.

Functional Associations

TOPAZ1 has 1,422 functional associations with biological entities spanning 7 categories (molecular profile, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 50 datasets.

Click the + buttons to view associations for TOPAZ1 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 TOPAZ1 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 TOPAZ1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with TOPAZ1 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of TOPAZ1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of TOPAZ1 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 TOPAZ1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of TOPAZ1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing TOPAZ1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with TOPAZ1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
CTD Gene-Chemical Interactions chemicals interacting with TOPAZ1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
CTD Gene-Disease Associations diseases associated with TOPAZ1 gene/protein from the curated CTD Gene-Disease Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by TOPAZ1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with TOPAZ1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with TOPAZ1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at TOPAZ1 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 TOPAZ1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of TOPAZ1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of TOPAZ1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GO Cellular Component Annotations 2015 cellular components containing TOPAZ1 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by TOPAZ1 gene from the curated GO Molecular Function Annotations 2015 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of TOPAZ1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of TOPAZ1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations phenotypes associated with TOPAZ1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with TOPAZ1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
GWASdb SNP-Disease Associations diseases associated with TOPAZ1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with TOPAZ1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of TOPAZ1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for TOPAZ1 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of TOPAZ1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of TOPAZ1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of TOPAZ1 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 TOPAZ1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain TOPAZ1 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by TOPAZ1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of TOPAZ1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
NURSA Protein Complexes protein complexs containing TOPAZ1 protein recovered by IP-MS from the NURSA Protein Complexes dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for TOPAZ1 from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of TOPAZ1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of TOPAZ1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at TOPAZ1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of TOPAZ1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of TOPAZ1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of TOPAZ1 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of TOPAZ1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of TOPAZ1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of TOPAZ1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of TOPAZ1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of TOPAZ1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with TOPAZ1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with TOPAZ1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.