Tcof1 Gene Summary [Mouse]
Predicted to enable protein heterodimerization activity and scaffold protein binding activity. Acts upstream of or within nucleolar large rRNA transcription by RNA polymerase I. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Predicted to be active in nucleolus. Is expressed in several structures, including appendicular skeleton; branchial arch; facial prominence; genitourinary system; and neural ectoderm. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome and Treacher Collins syndrome 1. Orthologous to human TCOF1 (treacle ribosome biogenesis factor 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tcof1 |
| Official Name | treacle ribosome biogenesis factor 1 [Source:MGI Symbol;Acc:MGI:892003] |
| Ensembl ID | ENSMUSG00000024613 |
| Bio databases IDs | |
| Aliases | treacle ribosome biogenesis factor 1 |
| Synonyms | MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1 |
| 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 Tcof1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- protein binding activity, bridging
- Treacher Collins syndrome protein Treacle
- protein binding
- LisH
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- Treacher-Collins syndrome type 1
- exencephaly
- hypoplasia
- postmenopausal osteoporosis
- anophthalmia
- hereditary disorder
- Treacher Collins-Franceschetti syndrome
- microcephaly
phenotypes
- abnormal Rathke's pouch development
- abnormal cranial ganglia morphology
- abnormal cranial neural crest cell migration
- abnormal craniofacial bone morphology
- abnormal craniofacial development
- abnormal craniofacial morphology
- abnormal cranium morphology
- abnormal digit morphology
- abnormal dorsal root ganglion morphology
- abnormal eye morphology
- abnormal forebrain development
- abnormal forebrain morphology
- abnormal frontal bone morphology
- abnormal lateral nasal prominence morphology
- abnormal maxilla morphology
- abnormal maxillary prominence morphology
- abnormal medial nasal prominence morphology
- abnormal midbrain development
- abnormal middle ear ossicle morphology
- abnormal nasal bone morphology
- abnormal nasal capsule morphology
- abnormal nasal cavity morphology
- abnormal nasal septum morphology
- abnormal neural crest cell migration
- abnormal neural fold formation
- abnormal neural plate morphology
- abnormal neurocranium morphology
- abnormal outer ear morphology
- abnormal palatal shelf fusion at midline
- abnormal palatine bone morphology
- abnormal posture
- abnormal premaxilla morphology
- abnormal temporal bone morphology
- abnormal trigeminal nerve morphology
- abnormal tympanic ring morphology
- abnormal upper lip morphology
- abnormal viscerocranium morphology
- abnormal zygomatic arch morphology
- absent frontal bone
- absent glossopharyngeal nerve
- absent interparietal bone
- absent nasal pit
- absent nasal septum
- absent optic vesicle
- absent parietal bone
- absent turbinates
- acrania
- anophthalmia
- cleft palate
- cup-shaped ears
- decreased cranial neural crest cell proliferation
- decreased embryonic neuroepithelial cell proliferation
- decreased neural crest cell number
- delayed embryo turning
- delayed endochondral bone ossification
- delayed neural tube closure
- disorganized dorsal root ganglion
- distended abdomen
- domed cranium
- embryonic growth retardation
- exencephaly
- exophthalmos
- facial bone hypoplasia
- failure of palatal shelf elevation
- first pharyngeal arch hypoplasia
- frontal bone hypoplasia
- frontonasal prominence hypoplasia
- increased embryonic neuroepithelium apoptosis
- increased neural tube apoptosis
- lowered ear position
- mandible hypoplasia
- maxilla hypoplasia
- microcephaly
- middle ear ossicle hypoplasia
- nasal bone hypoplasia
- neonatal lethality complete penetrance
- open neural tube
- palatine bone hypoplasia
- premaxilla hypoplasia
- prenatal growth retardation
- respiratory distress
- respiratory failure
- retrognathia
- rib fusion
- short mandible
- short maxilla
- short premaxilla
- shortened head
- small mandible
- small orbits
- small otic vesicle
- small trigeminal ganglion
- temporal bone hypoplasia
- tympanic ring hypoplasia
- vertebral fusion
- zygomatic arch hypoplasia
role in cell
- migration
- expression in
- phosphorylation in
- formation
- apoptosis
- proliferation
- number
- development
- quantity
- colony formation
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
- pseudo nucleolar organizer
- fibrillar center
- cytosol
- dense fibrillar component
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tcof1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- skeletal system development
- neural crest cell development
- transcription of nuclear large rRNA transcript from RNA polymerase I promoter
- neural crest formation
Cellular Component
Where in the cell the gene product is active
- cytosol
- nucleolus
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- protein binding
- RNA binding
- protein heterodimerization activity
- protein binding, bridging