CENPJ Gene Summary [Human]
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | CENPJ |
| Official Name | centromere protein J [Source:HGNC Symbol;Acc:HGNC:17272] |
| Ensembl ID | ENSG00000151849 |
| Bio databases IDs | |
| Aliases | centromere protein J, centrosomal P4.1-associated protein, Seckel syndrome 4, Spindle assembly abnormal 4, LAG-3-associated protein |
| Synonyms | 4932437H03, 4932437H03Rik, BM032, CENP-J, centrosome assembly and centriole elongation protein, Gm81, LAP, LIP1, LIP7, MCPH6, Sas-4, SASS4, SCKL4 |
| Species | Human, Homo sapiens |
| 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 human 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
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 human 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