OGFOD1
2-oxoglutarate and iron-dependent oxygenase domain containing 1
Gene Information Card
| Symbol | OGFOD1 |
|---|---|
| Full Name | 2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 55239 ncbi.nlm.nih.gov/gene/55239 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q8N543 |
| OMIM ID | 617254 |
| HGNC ID | 25758 |
| Aliases | FLJ10707, OGFOD1, OGFOD1A |
Description
OGFOD1 encodes a 2-oxoglutarate and iron-dependent oxygenase domain-containing protein. It is involved in the hydroxylation of proline residues in proteins, particularly in the context of translation termination and ribosome-associated quality control. The protein is localized to the cytoplasm and nucleus and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | OGFOD1 mutations and altered expression may contribute to tumorigenesis through dysregulation of protein synthesis and cellular stress responses. | COSMIC database reports somatic mutations in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 11.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect; predicted damaging by in silico tools. |
| c.1246G>A (p.Gly416Arg) | Missense | 0.005% (gnomAD) | Unknown functional effect; predicted benign. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ribosome-associated quality control (RQC)
• Translation termination
Protein Summary
OGFOD1 is a 2-oxoglutarate and iron-dependent oxygenase that hydroxylates proline residues in proteins. It plays a role in translation termination and ribosome-associated quality control by modifying the release factor eRF1. The protein is expressed in multiple tissues and is implicated in cellular stress responses and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OGFOD1 Knockout HEK293 Cell Line | EDJ-KQ14555 | Human | 55239 | Details Get a Quote |
| OGFOD1 Knockout A-549 Cell Line | EDJ-KQ44848 | Human | 55239 | Details Get a Quote |
| OGFOD1 Knockout HeLa Cell Line | EDJ-KQ44849 | Human | 55239 | Details Get a Quote |
| OGFOD1 Knockout HCT 116 Cell Line | EDJ-KQ43598 | Human | 55239 | Details Get a Quote |
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