KHDC1: KH Domain Containing 1
A gene encoding a protein with a KH RNA-binding domain, involved in RNA metabolism and potentially linked to cancer and developmental processes.
Gene Information Card
| Symbol | KHDC1 |
|---|---|
| Full Name | KH Domain Containing 1 |
| 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 | 617196 |
| HGNC ID | 37246 |
| Aliases | FLJ39660, MGC16384 |
Description
KHDC1 (KH Domain Containing 1) is a protein-coding gene located on chromosome 6q13. The encoded protein contains a KH domain, which is a conserved RNA-binding motif involved in post-transcriptional regulation of gene expression. KHDC1 is expressed in various tissues and has been implicated in RNA metabolism, cell proliferation, and differentiation. Altered expression of KHDC1 has been observed in certain cancers and developmental disorders, suggesting a role in disease pathogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered KHDC1 expression may affect RNA stability and translation, contributing to tumorigenesis. | Expression data from COSMIC and literature. |
| Developmental disorders | Potential role in RNA processing during embryogenesis; mutations may disrupt normal development. | Inferred from gene function and expression patterns. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
| A549 | 6.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Unknown functional impact |
| c.456delA (p.Lys152fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.456delA) likely result in a truncated or non-functional protein, leading to loss of RNA-binding activity.
Gain of Function (GOF)
No gain-of-function mutations reported for KHDC1.
Dominant Negative (DN)
No dominant-negative mutations reported for KHDC1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • nucleus | • cytoplasm |
| • regulation of translation |
Pathways
• RNA metabolism
• Post-transcriptional gene regulation
Protein Summary
The KHDC1 protein (UniProt A6NKD9) contains a single KH domain, a conserved RNA-binding motif. It is predicted to localize to the nucleus and cytoplasm, where it may participate in mRNA processing, stability, or translation. The protein is 267 amino acids long and has no known enzymatic activity. Its precise molecular function remains under investigation, but it is thought to regulate gene expression at the post-transcriptional level.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHDC1 Knockout HEK293 Cell Line | EDJ-KQ9562 | Human | 80759 | Details Get a Quote |
| KHDC1L Knockout HEK293 Cell Line | EDJ-KQ13174 | Human | 100129128 | Details Get a Quote |
| KHDC1 Knockout A-549 Cell Line | EDJ-KQ36363 | Human | 80759 | Details Get a Quote |
| KHDC1 Knockout HCT 116 Cell Line | EDJ-KQ36364 | Human | 80759 | Details Get a Quote |
| KHDC1 Knockout HeLa Cell Line | EDJ-KQ36365 | Human | 80759 | 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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