KHDC1L Gene - KH Domain Containing 1 Like
Comprehensive genomic and functional analysis of KHDC1L
Gene Information Card
| Symbol | KHDC1L |
|---|---|
| Full Name | KH domain containing 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000203782 |
| UniProt ID | A6NKD9 |
| OMIM ID | - |
| HGNC ID | 37260 |
| Aliases | FLJ45831, MGC16384 |
Description
KHDC1L (KH domain containing 1 like) is a protein-coding gene located on chromosome 6q13. The gene encodes a protein containing a KH domain, which is known to be involved in RNA binding and post-transcriptional regulation. The specific function of KHDC1L is not fully characterized, but it is predicted to play a role in RNA metabolism. Expression data suggest low to moderate levels in certain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Thyroid | 1.5 | Low |
| Prostate | 1.2 | Low |
| Adrenal gland | 1.0 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Low expression |
| K562 | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | - | - | - |
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)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
Protein Summary
The KHDC1L protein (UniProt A6NKD9) is 283 amino acids long and contains a single KH domain (type I). The KH domain is a conserved RNA-binding motif. The protein is predicted to localize to the nucleus and may be involved in RNA processing or stability. No enzymatic activity or disease-associated mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHDC1L Knockout HEK293 Cell Line | EDJ-KQ13174 | Human | 100129128 | Details Get a Quote |
| KHDC1L Knockout HCT 116 Cell Line | EDJ-KQ43787 | Human | 100129128 | Details Get a Quote |
| KHDC1L Knockout HeLa Cell Line | EDJ-KQ60792 | Human | 100129128 | Details Get a Quote |
| KHDC1L Knockout A-549 Cell Line | EDJ-KQ69261 | Human | 100129128 | Details Get a Quote |
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