CDY1B
Chromodomain Y-linked 1B
Gene Information Card
| Symbol | CDY1B |
|---|---|
| Full Name | Chromodomain Y-linked 1B |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.222 |
| NCBI Gene ID | 253175 ncbi.nlm.nih.gov/gene/253175 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | Q9Y6F8 |
| OMIM ID | 400016 |
| HGNC ID | 1807 |
| Aliases | CDY1, CDY, CT9, MGC26594 |
Description
CDY1B is a gene on the Y chromosome that encodes a chromodomain-containing protein. The protein functions as a histone acetyltransferase and is involved in chromatin remodeling during spermatogenesis. CDY1B is part of the AZFb (azoospermia factor b) region; deletions of this region are a common genetic cause of male infertility, including azoospermia and severe oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Deletion of AZFb region including CDY1B disrupts spermatogenesis | ClinVar, OMIM |
| Spermatogenic failure | Loss of CDY1B histone acetyltransferase activity impairs chromatin remodeling | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.1 | Not detected |
| Prostate | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.0 | Testicular germ cell tumor model |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| AZFb deletion (including CDY1B) | Copy number loss | ~1-2% of infertile men | Loss of function; causes spermatogenic arrest |
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
AZFb deletions including CDY1B lead to loss of histone acetyltransferase activity and impaired spermatogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • histone acetyltransferase activity |
| • chromatin remodeling | • spermatogenesis |
| • male gamete generation |
Pathways
• Chromatin organization
• Spermatogenesis
Protein Summary
The CDY1B protein contains a chromodomain and a catalytic domain with histone acetyltransferase activity. It localizes to the nucleus and modifies chromatin structure during spermatid elongation, facilitating histone-to-protamine replacement. The protein is testis-specific and essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDY1B Knockout HEK293 Cell Line | EDJ-KQ11730 | Human | 253175 | Details Get a Quote |
| CDY1B Knockout HeLa Cell Line | EDJ-KQ59240 | Human | 253175 | Details Get a Quote |
| CDY1B Knockout A-549 Cell Line | EDJ-KQ67707 | Human | 253175 | Details Get a Quote |
| CDY1B Knockout HCT 116 Cell Line | EDJ-KQ76090 | Human | 253175 | Details Get a Quote |
