OXLD1: Oxidoreductase-Like Domain-Containing Protein 1
A mitochondrial protein with putative oxidoreductase function, implicated in cellular stress responses.
Gene Information Card
| Symbol | OXLD1 |
|---|---|
| Full Name | Oxidoreductase-Like Domain-Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 285220 ncbi.nlm.nih.gov/gene/285220 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N4Q1 |
| OMIM ID | 617020 |
| HGNC ID | 28235 |
| Aliases | FLJ22662, MGC13170, bA371P15.1 |
Description
OXLD1 (oxidoreductase-like domain-containing 1) is a protein-coding gene located on chromosome 17q25.3. The encoded protein contains a predicted oxidoreductase domain and is localized to mitochondria. It is thought to participate in redox regulation and cellular stress responses. Expression data indicate broad but low-level transcription in multiple tissues, with highest levels in the heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | OXLD1 expression is altered in breast cancer tissues; potential role in tumor metabolism via mitochondrial redox modulation. | COSMIC database; PMID: 27107012 |
| Colorectal cancer | Somatic mutations in OXLD1 have been identified in colorectal cancer samples, though functional significance is not fully characterized. | COSMIC database |
| Mitochondrial disorders | OXLD1 is a mitochondrial protein; variants may contribute to mitochondrial dysfunction, but direct disease association is not yet established. | UniProt; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 4.2 | Low |
| Skeletal muscle | 3.8 | Low |
| Liver | 1.5 | Not detected |
| Brain | 0.9 | Not detected |
| Kidney | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| HeLa | 2.5 | Moderate expression |
| MCF7 | 3.1 | Moderate expression |
| HepG2 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Pro66Leu) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools |
| c.304G>A (p.Gly102Arg) | Missense | <0.01% | Unknown; reported in COSMIC for colorectal cancer |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • mitochondrion (GO:0005739) |
| • oxidation-reduction process (GO:0055114) |
Protein Summary
The OXLD1 protein (UniProt Q8N4Q1) is a 152-amino-acid polypeptide with a predicted oxidoreductase domain. It is localized to the mitochondria and may function in redox homeostasis. Structural predictions suggest a flavin-binding site, but enzymatic activity has not been experimentally confirmed. The protein is expressed at low levels across many tissues, with highest abundance in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OXLD1 Knockout HEK293 Cell Line | EDJ-KQ12068 | Human | 339229 | Details Get a Quote |
| OXLD1 Knockout HCT 116 Cell Line | EDJ-KQ39461 | Human | 339229 | Details Get a Quote |
| OXLD1 Knockout A-549 Cell Line | EDJ-KQ40718 | Human | 339229 | Details Get a Quote |
| OXLD1 Knockout HeLa Cell Line | EDJ-KQ40720 | Human | 339229 | Details Get a Quote |
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