RBMY1C (RNA Binding Motif Protein, Y-Linked, Family 1 Member C)
A Y-chromosome-specific RNA-binding protein implicated in male germ cell development and spermatogenesis.
Gene Information Card
| Symbol | RBMY1C |
|---|---|
| Full Name | RNA binding motif protein, Y-linked, family 1 member C |
| Gene Type | protein-coding |
| Chromosomal Location | Yq11.23 |
| NCBI Gene ID | 5940 ncbi.nlm.nih.gov/gene/5940 |
| Ensembl ID | ENSG00000213402 |
| UniProt ID | Q9Y559 |
| OMIM ID | 400026 |
| HGNC ID | 9932 |
| Aliases | RBMY1A1, RBMY1A2, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1G, RBMY1H, RBMY1J, RBMY1K, RBMY1L, RBMY1M, RBMY1N, RBMY1P, RBMY1Q, RBMY1R, RBMY1S, RBMY1T, RBMY1U, RBMY1V, RBMY1W, RBMY1X, RBMY1Y, RBMY1Z |
Description
RBMY1C is a member of the RBMY gene family located on the Y chromosome. It encodes an RNA-binding protein that is predominantly expressed in the testis, specifically in germ cells. The protein contains an RNA recognition motif (RRM) and is involved in spermatogenesis, likely playing a role in RNA processing and regulation during male germ cell development. Deletions or alterations in RBMY genes have been associated with male infertility, particularly with azoospermia or severe oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Deletion or reduced expression of RBMY genes, including RBMY1C, may impair spermatogenesis. | Case-control studies and Y-chromosome microdeletion analyses (e.g., in AZFb/c regions) have linked RBMY deletions to infertility. |
| Spermatogenic failure | Altered RNA-binding function may disrupt germ cell differentiation. | Functional studies in animal models and expression analyses in infertile men. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM from GTEx not applicable for Y-linked genes) | High (testis-specific) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data available | N/A | RBMY1C is not expressed in common cell lines; expression is testis-specific. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants curated in ClinVar for RBMY1C | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Loss of RBMY1C function due to Y-chromosome microdeletions may lead to impaired spermatogenesis and male infertility.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not applicable; RBMY1C is Y-linked and hemizygous in males.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA processing (GO:0006397) |
| • spermatogenesis (GO:0007283) |
Pathways
• Spermatogenesis
• mRNA surveillance
Protein Summary
The RBMY1C protein is a testis-specific RNA-binding protein containing an RNA recognition motif. It is localized to the nucleus and is thought to participate in pre-mRNA splicing or transport during spermatogenesis. Its expression is restricted to germ cells, and it is part of the RBMY family that arose from retroposition of the RBMX gene on the X chromosome. The protein is essential for normal sperm production, and its absence is linked to male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBMY1C Knockout HEK293 Cell Line | EDJ-KQ5650 | Human | 5942 | Details Get a Quote |
| RBMY1C Knockout A-549 Cell Line | EDJ-KQ28985 | Human | 5942 | Details Get a Quote |
| RBMY1C Knockout HCT 116 Cell Line | EDJ-KQ28986 | Human | 5942 | Details Get a Quote |
| RBMY1C Knockout HeLa Cell Line | EDJ-KQ28987 | Human | 5942 | Details Get a Quote |
