CPXCR1
CPX Chromosome Region Candidate 1
Gene Information Card
| Symbol | CPXCR1 |
|---|---|
| Full Name | CPX chromosome region candidate 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq21.33 |
| NCBI Gene ID | 53336 ncbi.nlm.nih.gov/gene/53336 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q8N123 |
| OMIM ID | 300188 |
| HGNC ID | 2430 |
| Aliases | CPXCR, DKFZp686B2427 |
Description
CPXCR1 (CPX chromosome region candidate 1) is a protein-coding gene located on the X chromosome at Xq21.33. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene encodes a protein of unknown function but is conserved in mammals. Mutations or altered expression of CPXCR1 have been associated with male infertility, particularly azoospermia and oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Reduced or absent CPXCR1 expression may disrupt spermatogenesis | PMID: 15645491, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
| Ovary | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.2 | Testicular germ cell tumor line |
| HEK293 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutation (c.1A>G) likely leads to loss of protein expression.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The CPXCR1 protein is 282 amino acids long with a molecular weight of ~31 kDa. It contains a conserved domain of unknown function (DUF). The protein is predicted to be cytoplasmic and may be involved in cell signaling during spermatogenesis. No enzymatic activity has been characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPXCR1 Knockout HEK293 Cell Line | EDJ-KQ11330 | Human | 53336 | Details Get a Quote |
| CPXCR1 Knockout HeLa Cell Line | EDJ-KQ56366 | Human | 53336 | Details Get a Quote |
| CPXCR1 Knockout A-549 Cell Line | EDJ-KQ64856 | Human | 53336 | Details Get a Quote |
| CPXCR1 Knockout HCT 116 Cell Line | EDJ-KQ73299 | Human | 53336 | Details Get a Quote |
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