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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HEATR1
HEAT repeat containing 1
Chromosome 1 · 1q43
NCBI Gene: 55127Ensembl: ENSG00000119285.12HGNC: HGNC:25517UniProt: A2VDI1
149PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
rRNA metabolic processRNA bindingprotein bindingprotein localization to nucleolusneurodegenerative diseaseAlzheimer diseasemultiple sclerosislysosomal storage disease
✦AI Summary

HEATR1 (HEAT repeat containing 1) is a nucleolar ribosome biogenesis factor essential for small subunit (SSU) processome assembly and pre-ribosomal RNA processing 1. As a component of the SSU processome, HEATR1 facilitates recruitment of ribosomal proteins and RNA chaperones to nascent pre-rRNA, promoting RNA folding, modifications, and coordinated cleavage by the RNA exosome 1. HEATR1 directly regulates ribosomal DNA binding and associates with RNA polymerase I transcription/processing factors to optimize pre-rRNA synthesis 2. Additionally, HEATR1 recruits MYC to nucleoli and is required for MYC-driven ribogenesis 1. Clinically, HEATR1 dysregulation is implicated in multiple cancers. In hepatocellular carcinoma, HEATR1 is upregulated by mTORC1 signaling and promotes tumor growth by dominating ribosome biogenesis and proteome homeostasis; high HEATR1 expression correlates with poor survival 2. In contrast, HEATR1 deficiency in pancreatic cancer promotes proliferation and gemcitabine resistance through Nrf2 pathway activation, with low HEATR1 associated with poor prognosis 3. HEATR1 functions as a negative AKT regulator in pancreatic cancer, sensitizing cells to chemotherapy; downregulation associates with treatment resistance and shorter overall survival 4. In gastric and oral squamous cell carcinomas, HEATR1 promotes proliferation via mTOR activation and Pontin/Reptin stabilization 5 6. Multiomics analysis links HEATR1 to cardiac structure and function regulation 7.

Sources cited
1
HEATR1 (HEAT repeat containing 1) is a nucleolar ribosome biogenesis factor essential for small subunit (SSU) processome assembly and pre-ribosomal RNA processing .
PMID: 38225354
2
HEATR1 directly regulates ribosomal DNA binding and associates with RNA polymerase I transcription/processing factors to optimize pre-rRNA synthesis .
PMID: 37247644
3
In contrast, HEATR1 deficiency in pancreatic cancer promotes proliferation and gemcitabine resistance through Nrf2 pathway activation, with low HEATR1 associated with poor prognosis .
PMID: 31785531
4
HEATR1 functions as a negative AKT regulator in pancreatic cancer, sensitizing cells to chemotherapy; downregulation associates with treatment resistance and shorter overall survival .
PMID: 26676747
5
In gastric and oral squamous cell carcinomas, HEATR1 promotes proliferation via mTOR activation and Pontin/Reptin stabilization .
PMID: 32634230
6
In gastric and oral squamous cell carcinomas, HEATR1 promotes proliferation via mTOR activation and Pontin/Reptin stabilization .
PMID: 33894417
7
Multiomics analysis links HEATR1 to cardiac structure and function regulation .
PMID: 40045424
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.35Weak
musculoskeletal system diseaseOpen Targets
0.24Weak
hypertrophic cardiomyopathyOpen Targets
0.24Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
rheumatic diseaseOpen Targets
0.04Suggestive
hemangiomaOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.03Suggestive
lymphangiomaOpen Targets
0.03Suggestive
Åland Islands eye diseaseOpen Targets
0.03Suggestive
heart failureOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
gliomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCCProtein interaction100%NOP14Protein interaction100%BMS1Protein interaction100%KRR1Protein interaction100%PDCD11Protein interaction100%BOP1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
71%
Lung
53%
Brain
51%
Liver
38%
Heart
38%
Gene Interaction Network
Click a node to explore
HEATR1MCCNOP14BMS1KRR1PDCD11BOP1
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.20–0.31]
RankingsWhere HEATR1 stands among ~20K protein-coding genes
  • #3,040of 20,598
    Most Researched149 · top quartile
  • #1,233of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedHEATR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Nucleolar HEAT Repeat Containing 1 Up-regulated by the Mechanistic Target of Rapamycin Complex 1 Signaling Promotes Hepatocellular Carcinoma Growth by Dominating Ribosome Biogenesis and Proteome Homeostasis.
PMID: 37247644
Gastroenterology · 2023
1.00
2
HEATR1 deficiency promotes pancreatic cancer proliferation and gemcitabine resistance by up-regulating Nrf2 signaling.
PMID: 31785531
Redox Biol · 2020
0.90
3
HEATR1, a novel interactor of Pontin/Reptin, stabilizes Pontin/Reptin and promotes cell proliferation of oral squamous cell carcinoma.
PMID: 33894417
Biochem Biophys Res Commun · 2021
0.80
4
New possible silver lining for pancreatic cancer therapy: Hydrogen sulfide and its donors.
PMID: 34094825
Acta Pharm Sin B · 2021
0.70
5
HEATR1 promotes proliferation in gastric cancer in vitro and in vivo.
PMID: 32634230
Acta Biochim Biophys Sin (Shanghai) · 2020
0.60