POMP Gene

Name	proteasome maturation protein
Description	The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nProteasome maturation protein (POMP) is an essential chaperone that facilitates the correct assembly and maturation of the 20S proteasome core complex. By promoting the incorporation of catalytic subunits, POMP enables efficient proteolysis and supports key cellular processes such as antigen processing and maintenance of protein homeostasis. Moreover, studies have demonstrated that POMP participates in the stepwise recruitment of α‐ and β‐subunits at the endoplasmic reticulum and exists as oligomeric complexes with both cytoplasmic and nuclear localization, underscoring its multifaceted role in proteasome biogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn oncogenic settings, the regulation of POMP levels has emerged as a crucial node controlling proteasome activity. For instance, targeting of POMP by microRNA‐101 impairs proteasome assembly, resulting in the accumulation of tumor suppressor proteins and cell cycle inhibitors while increasing sensitivity to proteasome inhibitors. Conversely, upregulation of POMP via transcription factors—such as NRF3 and the NRF2-mediated axis—enhances the assembly of ubiquitin‐independent 20S proteasomes, thereby promoting degradation of key regulatory proteins and contributing to drug resistance. In addition, genetic variants in POMP have been implicated as modifiers of breast cancer risk, highlighting its relevance in tumor pathobiology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, alterations in POMP function have been associated with a broad spectrum of disorders. Mutations that perturb the normal function of POMP can lead to immunodeficiency and autoinflammatory syndromes by disrupting NF‐κB signaling and impairing protein turnover. In the epidermis, dysregulation of POMP expression—arising from mutations in regulatory regions—has been linked to disorders such as KLICK syndrome, where abnormal transcript initiation and mislocalization contribute to proteasome insufficiency and defective terminal differentiation. Moreover, aberrant expression of POMP is observed in inflammatory skin conditions like psoriasis, and genetic variants in POMP are associated with ocular disorders including exfoliation syndrome and glaucoma, underscoring its clinical and pathophysiological relevance in diverse tissues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.04.010"}], "href": "https://doi.org/10.1016/j.ajhg.2018.04.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29805043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29805043"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Benjamin Fricke, Sylvia Heink, Janos Steffen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.embor.7401091"}], "href": "https://doi.org/10.1038/sj.embor.7401091"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17948026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17948026"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Melanie M Hoefer, Eva-Maria Boneberg, Stefan Grotegut, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Macromol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijbiomac.2006.03.015"}], "href": "https://doi.org/10.1016/j.ijbiomac.2006.03.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16624403"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16624403"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xin Zhang, Ramona Schulz, Shelley Edmunds, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-101 Suppresses Tumor Cell Proliferation by Acting as an Endogenous Proteasome Inhibitor via Targeting the Proteasome Assembly Factor POMP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2015.05.036"}], "href": "https://doi.org/10.1016/j.molcel.2015.05.036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26145175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26145175"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bingzong Li, Jinxiang Fu, Ping Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Nuclear Factor (Erythroid-derived 2)-like 2 and Proteasome Maturation Protein Axis Mediate Bortezomib Resistance in Multiple Myeloma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.664953"}], "href": "https://doi.org/10.1074/jbc.M115.664953"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26483548"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26483548"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tsuyoshi Waku, Nanami Nakamura, Misaki Koji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00597-19"}], "href": "https://doi.org/10.1128/MCB.00597-19"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32123008"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32123008"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anja Rudolph, Rebecca Hein, Sara Lindström, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocr Relat Cancer (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1530/ERC-13-0349"}], "href": "https://doi.org/10.1530/ERC-13-0349"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24080446"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24080446"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Johanna Dahlqvist, Joakim Klar, Neha Tiwari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.02.018"}], "href": "https://doi.org/10.1016/j.ajhg.2010.02.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20226437"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20226437"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Johanna Dahlqvist, Hans Törmä, Jitendra Badhai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0029471"}], "href": "https://doi.org/10.1371/journal.pone.0029471"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22235297"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22235297"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Susanne A Gatz, Daniela Salles, Eva-Maria Jacobsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22939"}], "href": "https://doi.org/10.1002/humu.22939"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26615982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26615982"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Barbara A Zieba, Laurent Henry, Matthieu Lacroix, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The proteasome maturation protein POMP increases proteasome assembly and activity in psoriatic lesional skin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dermatol Sci (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jdermsci.2017.04.009"}], "href": "https://doi.org/10.1016/j.jdermsci.2017.04.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28728908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28728908"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Takuya Takeichi, Masashi Akiyama "}, {"type": "b", "children": [{"type": "t", "text": "KLICK Syndrome Linked to a "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "POMP"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Immunol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fimmu.2020.00641"}], "href": "https://doi.org/10.3389/fimmu.2020.00641"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32425927"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32425927"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "N Kobakhidze, S Tabagari, G Chichua "}, {"type": "b", "children": [{"type": "t", "text": "NEW GENETIC MARKERS ASSOCIATED WITH SUSCEPTIBILITY TO EXFOLIATION SYNDROME AMONG GEORGIAN POPULATION."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Georgian Med News (2019)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31687947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31687947"}]}]}]}
Synonyms	HSPC014, PNAS-110, PRAAS2, C13ORF12, UMP1
Proteins	POMP_HUMAN
NCBI Gene ID	51371
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

POMP has 5,617 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 105 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

POMP 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 POMP gene relative to other tissues from the Allen Brain Atlas Adult Human 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 POMP 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 POMP 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 POMP 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 POMP gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of POMP 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 POMP 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 POMP 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 POMP 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 POMP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of POMP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of POMP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with POMP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing POMP protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of POMP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing POMP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing POMP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing POMP 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 POMP 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 POMP 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 POMP 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 POMP gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with POMP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with POMP gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of POMP protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving POMP gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving POMP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with POMP 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 POMP 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 POMP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with POMP 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 POMP 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 POMP gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of POMP gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing POMP from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with POMP gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of POMP gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with POMP gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing POMP from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of POMP gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.