HGH1 Homolog
A gene encoding a protein involved in ribosome biogenesis and cellular stress response.
Gene Information Card
| Symbol | HGH1 |
|---|---|
| Full Name | HGH1 homolog |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 391267 ncbi.nlm.nih.gov/gene/391267 |
| Ensembl ID | ENSG00000178462 |
| UniProt ID | Q9H3Z4 |
| OMIM ID | 617573 |
| HGNC ID | 26716 |
| Aliases | FLJ11273, MGC13170 |
Description
HGH1 (HGH1 homolog) is a protein-coding gene located on chromosome 8q24.3. The encoded protein is involved in ribosome biogenesis and cellular stress response. It is conserved across eukaryotes and plays a role in maintaining genomic stability. Expression is observed in various tissues, with highest levels in testis and lymphoid organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Moderate expression |
| K562 | 10.7 | Moderate expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
Protein Summary
The HGH1 protein (UniProt Q9H3Z4) is a 267-amino acid protein localized to the nucleolus. It is involved in rRNA processing and ribosome assembly. The protein contains a conserved domain of unknown function (DUF1772) and is predicted to have RNA-binding properties. It interacts with ribosomal proteins and may play a role in stress-induced translational regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HGH1 Knockout HEK293 Cell Line | EDJ-KQ10991 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout A-549 Cell Line | EDJ-KQ38833 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout HCT 116 Cell Line | EDJ-KQ38834 | Human | 51236 | Details Get a Quote |
| HGH1 Knockout HeLa Cell Line | EDJ-KQ38835 | Human | 51236 | Details Get a Quote |
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