Cenpj Gene Summary [Mouse]
Predicted to enable several functions, including gamma-tubulin binding activity; identical protein binding activity; and transcription coactivator activity. Acts upstream of or within organelle assembly; positive regulation of non-motile cilium assembly; and smoothened signaling pathway. Located in centriole and ciliary basal body. Is expressed in several structures, including brain; foregut; sensory organ; submandibular gland primordium; and tooth. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 4; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 6. Orthologous to human CPAP (centrosome assembly and centriole elongation protein). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cenpj |
| Official Name | centromere protein J [Source:MGI Symbol;Acc:MGI:2684927] |
| Ensembl ID | ENSMUSG00000064128 |
| Bio databases IDs | |
| Aliases | centromere protein J |
| Synonyms | 4932437H03, 4932437H03Rik, BM032, CENP-J, centrosome assembly and centriole elongation protein, Gm81, LAP, LIP1, LIP7, MCPH6, Sas-4, SASS4, SCKL4 |
| 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 Cenpj often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- gamma-tubulin binding
- transcription regulator
- transcription co-activator
- protein kinase binding
- tubulin binding
- protein domain specific binding
- protein binding
- T-complex protein 10 C-terminus
- identical 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
- neoplasia
- autosomal recessive primary microcephaly type 6
- growth failure
- hereditary disorder
- Seckel syndrome 4
- autosomal recessive primary microcephaly type 1
- microcephaly type 6 with or without short stature
- autosomal recessive primary microcephaly
- Seckel syndrome 5
phenotypes
- process of degenerative change
- abnormal Descemet membrane
- abnormal behavior
- abnormal caudal vertebrae morphology
- abnormal cell physiology
- abnormal centrosome morphology
- abnormal ciliary process morphology
- abnormal corneal endothelium morphology
- abnormal cranium morphology
- abnormal deltoid tuberosity morphology
- abnormal dentate gyrus morphology
- abnormal double-strand DNA break repair
- abnormal embryo development
- abnormal embryo turning
- abnormal external male genitalia morphology
- abnormal femur morphology
- abnormal glucose tolerance
- abnormal head morphology
- abnormal humerus morphology
- abnormal intramembranous bone ossification
- abnormal iridocorneal angle
- abnormal iris morphology
- abnormal joint morphology
- abnormal mitosis
- abnormal mitotic spindle morphology
- abnormal myocardial fiber morphology
- abnormal occipital bone morphology
- abnormal parietal bone morphology
- abnormal pelvic girdle bone morphology
- abnormal retinal photoreceptor layer morphology
- abnormal social investigation
- abnormal sternocostal joint morphology
- abnormal tail morphology
- abnormal tail movements
- abnormal thoracic cage morphology
- abnormal tibia morphology
- abnormal ulna morphology
- abnormal vertebrae morphology
- absent embryonic cilia
- anophthalmia
- bowed humerus
- caudal vertebral fusion
- chromosomal instability
- decreased body length
- decreased body size
- decreased body weight
- decreased bone mineral content
- decreased brain weight
- decreased circulating calcium level
- decreased circulating serum albumin level
- decreased circulating total protein level
- decreased cranium length
- decreased fetal size
- decreased fetal weight
- decreased inner canthal distance
- decreased lean body mass
- decreased neuron number
- decreased total body fat amount
- delayed sexual maturation
- embryonic growth arrest
- embryonic lethality between somite formation and embryo turning complete penetrance
- embryonic lethality during organogenesis complete penetrance
- eyelids fail to open
- hypoactivity
- increased CD8-positive alpha-beta T cell number
- increased T cell number
- increased embryonic tissue cell apoptosis
- increased sacral vertebrae number
- iris synechia
- lethality throughout fetal growth and development incomplete penetrance
- polysyndactyly
- postnatal growth retardation
- prenatal growth retardation
- retention of the adrenal gland x-zone
- short lumbar vertebrae
- sloping forehead
- small cranium
- small sacral vertebrae
- vertebral fusion
role in cell
- expression in
- proliferation
- apoptosis
- formation
- formation in
- assembly
- loss in
- misalignment
- elongation
- 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.
- Nucleus
- Cytoplasm
- basal bodies
- centrosome
- centriole
- microtubules
- cytosol
- spindle pole
- pro-centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cenpj gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of G1/S transition of mitotic cell cycle
- cilium morphogenesis
- centriole replication
- microtubule nucleation
- smoothened signaling pathway
- positive regulation of centriole replication
- microtubule polymerization
- regulation of centriole replication
- motile cilium assembly
- regulation of mitotic spindle organization
- positive regulation of JAK-STAT cascade
- cell division
- astral microtubule nucleation
- positive regulation of transcription, DNA-dependent
Cellular Component
Where in the cell the gene product is active
- centrosome
- cilium basal body
- centriole
- gamma-tubulin small complex
- cytoplasm
- cytosol
- microtubule
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- protein kinase binding
- protein domain specific binding
- identical protein binding
- protein binding
- transcription coactivator activity
- gamma-tubulin binding