Mamld1 Gene Summary [Mouse]
Acts upstream of or within male gonad development; regulation of transcription by RNA polymerase II; and spermatid differentiation. Predicted to be located in Golgi apparatus; centrosome; and nucleoplasm. Predicted to be active in nuclear body. Is expressed in several structures, including diaphragm; nervous system; pancreas; reproductive system; and vertebral axis musculature. Human ortholog(s) of this gene implicated in hypospadias. Orthologous to human MAMLD1 (mastermind like domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mamld1 |
| Official Name | mastermind-like domain containing 1 [Source:MGI Symbol;Acc:MGI:3045303] |
| Ensembl ID | ENSMUSG00000059401 |
| Bio databases IDs | |
| Aliases | mastermind-like domain containing 1 |
| Synonyms | CG1, CXorf6, F18, G630014P10Rik, HYSP2, mastermind-like domain containing 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- refractive error
- X-linked hypospadias 2
- hypospadia
- 46 XY ovotesticular disorder of sex development
- papillary thyroid carcinoma
- papillary thyroid cancer
role in cell
- number
- transactivation in
- nonsense-mediated mRNA decay in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- centrosome
- Golgi Apparatus
- nucleoplasm
- nuclear bodies
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mamld1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- centrosome
- nuclear body
- Golgi apparatus
- nucleoplasm