PHYHD1
Phytanoyl-CoA Dioxygenase Domain Containing 1
Gene Information Card
| Symbol | PHYHD1 |
|---|---|
| Full Name | Phytanoyl-CoA Dioxygenase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 254122 ncbi.nlm.nih.gov/gene/254122 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q5VY80 |
| OMIM ID | 616812 |
| HGNC ID | 28470 |
| Aliases | FLJ32743, MGC131911 |
Description
PHYHD1 encodes a protein containing a phytanoyl-CoA dioxygenase domain, which is predicted to be involved in the alpha-oxidation of branched-chain fatty acids. The gene is located on chromosome 9q34.3 and is expressed in various tissues. Its exact biological function and clinical significance are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.0 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • iron ion binding |
| • dioxygenase activity |
Pathways
• Alpha-oxidation of phytanic acid (predicted)
Protein Summary
The PHYHD1 protein is a predicted dioxygenase that may participate in the alpha-oxidation of branched-chain fatty acids. It contains a conserved phytanoyl-CoA dioxygenase domain and is localized to the cytoplasm. Its precise enzymatic function and physiological role remain to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHYHD1 Knockout HEK293 Cell Line | EDJ-KQ11765 | Human | 254295 | Details Get a Quote |
| PHYHD1 Knockout HeLa Cell Line | EDJ-KQ40156 | Human | 254295 | Details Get a Quote |
| PHYHD1 Knockout A-549 Cell Line | EDJ-KQ67724 | Human | 254295 | Details Get a Quote |
| PHYHD1 Knockout HCT 116 Cell Line | EDJ-KQ76107 | Human | 254295 | Details Get a Quote |
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