POLR1D Gene

HGNC Family	RNA polymerase subunits (POLR)
Name	polymerase (RNA) I polypeptide D, 16kDa
Description	The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPOLR1D encodes an essential subunit of RNA polymerases I and III that plays a critical role in ribosome biogenesis. As demonstrated by in vivo kinetic studies of RNA polymerase I assembly on ribosomal genes, its incorporation as a distinct subunit regulates the synthesis of ribosomal RNA precursors and small RNAs, ensuring proper ribosome formation and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in POLR1D have been directly linked to craniofacial developmental disorders, most notably Treacher Collins syndrome (TCS). A series of studies have identified deletions, heterozygous and compound mutations in POLR1D in individuals with TCS and overlapping phenotypes—underscoring its dosage-sensitive role in ribosome biogenesis during craniofacial morphogenesis. These findings, together with reports of overlapping syndromic features in affected families, highlight its vital contribution to proper neural crest cell development and craniofacial patterning."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond developmental anomalies, dysregulation of POLR1D expression has been implicated in tumor progression. Studies in colorectal cancer indicate that overexpression of POLR1D promotes cell proliferation, migration, and tumor growth by accelerating the G1-S cell cycle transition through activation of Wnt/β-catenin signaling and inhibition of p53 activity. Additionally, preliminary evidence points to a potential role in lung cancer prognosis, suggesting that POLR1D may serve both as a biomarker and a promising therapeutic target in oncogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Miroslav Dundr, Urs Hoffmann-Rohrer, Qiyue Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A kinetic framework for a mammalian RNA polymerase in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1076164"}], "href": "https://doi.org/10.1126/science.1076164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12446911"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12446911"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ryan J Palumbo, Alana E Belkevich, Haleigh G Pascual, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A clinically-relevant residue of POLR1D is required for Drosophila development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Dyn (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/dvdy.505"}], "href": "https://doi.org/10.1002/dvdy.505"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35656583"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35656583"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Johannes G Dauwerse, Jill Dixon, Saskia Seland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.724"}], "href": "https://doi.org/10.1038/ng.724"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21131976"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21131976"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Elise Schaefer, Corinne Collet, David Genevieve, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2014.12"}], "href": "https://doi.org/10.1038/gim.2014.12"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24603435"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24603435"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sameep Kadakia, Samuel N Helman, Arvind K Badhey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Treacher Collins Syndrome: the genetics of a craniofacial disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2014.03.006"}], "href": "https://doi.org/10.1016/j.ijporl.2014.03.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24690222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24690222"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Philip F Giampietro, Linlea Armstrong, Alex Stoddard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.36799"}], "href": "https://doi.org/10.1002/ajmg.a.36799"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25348728"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25348728"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Marie Vincent, David Geneviève, Agnès Ostertag, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Treacher Collins syndrome: a clinical and molecular study based on a large series of patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2015.29"}], "href": "https://doi.org/10.1038/gim.2015.29"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25790162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25790162"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al. "}, {"type": "b", "children": [{"type": "t", "text": "POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-019-0669-9"}], "href": "https://doi.org/10.1038/s41436-019-0669-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31649276"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31649276"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mingqing Wang, Wenbo Niu, Rong Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "POLR1D promotes colorectal cancer progression and predicts poor prognosis of patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Carcinog (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mc.22966"}], "href": "https://doi.org/10.1002/mc.22966"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30582221"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30582221"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yong Tian, Fan Sun, Yong Zhong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression and Clinical Significance of POLR1D in Colorectal Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncology (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000504174"}], "href": "https://doi.org/10.1159/000504174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31722331"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31722331"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Zhize Yuan, Yichao Wang, Yong Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "POLR1D silencing suppresses lung cancer cells proliferation and migration via inhibition of PI3K-Akt pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cardiothorac Surg (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13019-024-02791-y"}], "href": "https://doi.org/10.1186/s13019-024-02791-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38844975"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38844975"}]}]}]}
Synonyms	POLR1C, RPO1-3, RPA9, RPC16, RPAC2, RPA16, AC19, TCS2
Proteins	RPAC2_HUMAN
NCBI Gene ID	51082
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POLR1D has 8,256 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 134 datasets.

Click the + buttons to view associations for POLR1D from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

POLR1D Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR1D gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR1D gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of POLR1D gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of POLR1D gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of POLR1D gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of POLR1D gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving POLR1D protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of POLR1D gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of POLR1D gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of POLR1D gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of POLR1D gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of POLR1D gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with POLR1D protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with POLR1D 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 POLR1D gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POLR1D 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 POLR1D gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with POLR1D gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with POLR1D gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing POLR1D protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POLR1D protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POLR1D protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing POLR1D protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing POLR1D protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with POLR1D protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with POLR1D protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing POLR1D protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of POLR1D gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POLR1D gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with POLR1D gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with POLR1D gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with POLR1D gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of POLR1D protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by POLR1D gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving POLR1D gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving POLR1D gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with POLR1D gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with POLR1D 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 POLR1D gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with POLR1D gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.