HEATR3
HEAT Repeat Containing 3: A regulator of ribosome biogenesis and protein translation
Gene Information Card
| Symbol | HEATR3 |
|---|---|
| Full Name | HEAT Repeat Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 55027 ncbi.nlm.nih.gov/gene/55027 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9Y2I1 |
| OMIM ID | 617572 |
| HGNC ID | 26087 |
| Aliases | DKFZp686B16103, FLJ10330, MGC138499 |
Description
HEATR3 (HEAT Repeat Containing 3) encodes a protein characterized by HEAT repeats, which are helical structures involved in protein-protein interactions. The protein is implicated in ribosome biogenesis, particularly in the assembly and nuclear export of the 60S ribosomal subunit. It may also play a role in translation regulation and cellular stress responses. Expression is ubiquitous but enriched in tissues with high protein synthesis demand.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered HEATR3 expression may disrupt ribosome assembly, affecting cell proliferation and survival. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Potential impact on protein synthesis in neurons, though direct evidence is limited. | ClinVar lists rare variants of uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cell line |
| HeLa | 12.1 | Cervical cancer cell line |
| K562 | 10.3 | Leukemia cell line |
| A549 | 9.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.1576G>A (p.Glu526Lys) | Missense | <0.01% | Unknown; likely benign |
| c.1892_1893insA (p.Asn631Lysfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Asn631Lysfs*2) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • protein binding |
| • nucleus | • cytoplasm |
| • RNA binding |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
The HEATR3 protein contains multiple HEAT repeats, which mediate interactions with other proteins. It localizes to the nucleus and cytoplasm, and is involved in the assembly and nuclear export of the 60S ribosomal subunit. It may also participate in translation initiation and stress granule formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEATR3 Knockout HEK293 Cell Line | EDJ-KQ12991 | Human | 55027 | Details Get a Quote |
| HEATR3 Knockout HCT 116 Cell Line | EDJ-KQ43496 | Human | 55027 | Details Get a Quote |
| HEATR3 Knockout HeLa Cell Line | EDJ-KQ43497 | Human | 55027 | Details Get a Quote |
| HEATR3 Knockout A-549 Cell Line | EDJ-KQ65018 | Human | 55027 | Details Get a Quote |
