DMRTA1
Doublesex- and mab-3-related transcription factor A1
Gene Information Card
| Symbol | DMRTA1 |
|---|---|
| Full Name | Doublesex- and mab-3-related transcription factor A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 63951 ncbi.nlm.nih.gov/gene/63951 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q5VZQ5 |
| OMIM ID | 614801 |
| HGNC ID | 13906 |
| Aliases | DMRT5, DMRTA1A |
Description
DMRTA1 (Doublesex- and mab-3-related transcription factor A1) is a protein-coding gene that belongs to the DMRT (doublesex and mab-3 related transcription factor) family. It encodes a transcription factor containing a DM domain, which is involved in sex determination and differentiation. DMRTA1 is expressed in the testis and plays a role in spermatogenesis and male gonad development. The gene is located on chromosome 9p13.3 and is conserved across vertebrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Altered DMRTA1 expression may disrupt spermatogenesis | PMID: 23451118 |
| Testicular germ cell tumors | Potential dysregulation of DMRTA1 in testicular cancer | PMID: 25670082 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 1.2 | Low |
| Prostate | 0.8 | Low |
| Ovary | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.3 | Moderate expression |
| Embryonic kidney (HEK293) | 0.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown functional impact |
| c.763delG (p.Val255fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.763delG) likely lead to truncated protein and loss of DNA-binding activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sex determination pathway (Reactome: R-HSA-1470241)
• Transcriptional regulation by DMRT factors
Protein Summary
DMRTA1 is a 484-amino acid transcription factor containing a single DM domain that binds DNA as a dimer. It is predominantly expressed in the testis and regulates genes involved in male germ cell development. The protein localizes to the nucleus and acts as a transcriptional activator. Structural studies indicate that the DM domain recognizes specific DNA sequences (e.g., 5'-AATTGTAC-3').
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMRTA1 Knockout HEK293 Cell Line | EDJ-KQ13161 | Human | 63951 | Details Get a Quote |
| DMRTA1 Knockout A-549 Cell Line | EDJ-KQ42501 | Human | 63951 | Details Get a Quote |
| DMRTA1 Knockout HeLa Cell Line | EDJ-KQ42502 | Human | 63951 | Details Get a Quote |
| DMRTA1 Knockout HCT 116 Cell Line | EDJ-KQ73946 | Human | 63951 | Details Get a Quote |
