KLHDC1
Kelch Domain Containing 1
Gene Information Card
| Symbol | KLHDC1 |
|---|---|
| Full Name | kelch domain containing 1 |
| Gene Type | protein coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 122773 ncbi.nlm.nih.gov/gene/122773 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N2M8 |
| OMIM ID | 617491 |
| HGNC ID | 29377 |
| Aliases | FLJ10707, MGC13170 |
Description
KLHDC1 (kelch domain containing 1) is a protein-coding gene located on chromosome 14q21.3. The encoded protein contains a kelch repeat domain, which is typically involved in protein-protein interactions and substrate recognition. KLHDC1 is part of the BTB-Kelch family and may function as an adaptor for ubiquitin ligase complexes, though its precise biological role remains under investigation. Expression data indicate broad tissue distribution with highest levels in the testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.9 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Embryonic kidney |
| HeLa | 4.5 | Cervical carcinoma |
| K562 | 3.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
No evidence for dominant negative effects
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • kelch repeat domain |
Pathways
• Ubiquitin-proteasome system (predicted)
Protein Summary
KLHDC1 encodes a 597-amino acid protein containing a BTB domain and six kelch repeats. It is predicted to localize to the cytoplasm and may participate in ubiquitin-dependent protein degradation. Structural studies suggest it forms a beta-propeller architecture typical of kelch proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC10 Knockout HEK293 Cell Line | EDJ-KQ7771 | Human | 23008 | Details Get a Quote |
| KLHDC1 Knockout HEK293 Cell Line | EDJ-KQ8165 | Human | 122773 | Details Get a Quote |
| KLHDC10 Knockout A-549 Cell Line | EDJ-KQ33244 | Human | 23008 | Details Get a Quote |
| KLHDC10 Knockout HCT 116 Cell Line | EDJ-KQ33245 | Human | 23008 | Details Get a Quote |
| KLHDC10 Knockout HeLa Cell Line | EDJ-KQ33246 | Human | 23008 | Details Get a Quote |
| KLHDC1 Knockout HeLa Cell Line | EDJ-KQ58109 | Human | 122773 | Details Get a Quote |
| KLHDC1 Knockout A-549 Cell Line | EDJ-KQ66597 | Human | 122773 | Details Get a Quote |
| KLHDC1 Knockout HCT 116 Cell Line | EDJ-KQ75013 | Human | 122773 | Details Get a Quote |
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