KXD1 Gene - KxDL Motif Containing 1
Comprehensive gene information for KXD1, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | KXD1 |
|---|---|
| Full Name | KxDL motif containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 79036 ncbi.nlm.nih.gov/gene/79036 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | Q9BQD3 |
| OMIM ID | 300937 |
| HGNC ID | 28985 |
| Aliases | FLJ22662, MGC13170 |
Description
KXD1 (KxDL motif containing 1) is a protein-coding gene located on chromosome Xq28. The encoded protein contains a KxDL motif of unknown function. KXD1 is ubiquitously expressed in various tissues, with highest levels in the brain and testis. Its biological role remains under investigation, but it may be involved in cellular signaling or structural processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 7.2 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.3 | Moderate expression |
| HeLa | 5.1 | Low expression |
| K562 | 4.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No curated pathways available
Protein Summary
The KXD1 protein (UniProt Q9BQD3) is 183 amino acids long and contains a KxDL motif. Its exact function is unknown, but it is predicted to localize to the cytoplasm and may participate in protein-protein interactions. No enzymatic activity has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KXD1 Knockout HEK293 Cell Line | EDJ-KQ14018 | Human | 79036 | Details Get a Quote |
| KXD1 Knockout A-549 Cell Line | EDJ-KQ43920 | Human | 79036 | Details Get a Quote |
| KXD1 Knockout HCT 116 Cell Line | EDJ-KQ43921 | Human | 79036 | Details Get a Quote |
| KXD1 Knockout HeLa Cell Line | EDJ-KQ43922 | Human | 79036 | Details Get a Quote |
