4933427D14Rik Gene Summary [Mouse]
Predicted to be involved in cytosolic ciliogenesis and protein localization to centrosome. Predicted to be located in centrosome and cytosol. Predicted to be active in centriolar satellite. Is expressed in several structures, including alimentary system; brain; egg cylinder; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Joubert syndrome; asphyxiating thoracic dystrophy; and orofaciodigital syndrome. Orthologous to human KIAA0753 (KIAA0753). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Processed Transcript |
| Official Symbol | 4933427D14Rik |
| Official Name | RIKEN cDNA 4933427D14 gene [Source:MGI Symbol;Acc:MGI:1921727] |
| Ensembl ID | ENSMUSG00000020807 |
| Bio databases IDs | |
| Aliases | RIKEN cDNA 4933427D14 gene |
| Synonyms | 4933427D14Rik, 4933427D14Rikl, Gm43951, JBTS38, MNR, OFIP, RGD1304728, RIKEN cDNA 4933427D14 gene, RIKEN cDNA 4933427D14 gene like, SRTD21 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse 4933427d14rik often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein moonraker
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 21
- short-rib thoracic dysplasia type 21 without polydactyly
- orofaciodigital syndrome type 15
- Joubert syndrome type 38
- Jeune syndrome
- hereditary disorder
role in cell
- assembly
- duplication
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- basal bodies
- centrosome
- Endoplasmic Reticulum
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse 4933427d14rik gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- centriole replication
- protein localization to centrosome
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- centriolar satellite
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- 2 iron, 2 sulfur cluster binding