PCNT Gene Summary [Human]
The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | PCNT |
| Official Name | pericentrin [Source:HGNC Symbol;Acc:HGNC:16068] |
| Ensembl ID | ENSG00000160299 |
| Bio databases IDs | |
| Aliases | pericentrin, kendrin, Seckel syndrome 4 |
| Synonyms | C86676, KEN, Kendrin, LOC687681, m239Asp, m275Asp, MOPD2, PCN, PCNT2, PCNTB, PCTN2, pericentrin, pericentrin (kendrin), 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 PCNT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Crescentin protein
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Synaptonemal complex protein 1 (SCP-1)
- coiled-coil domain
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Pericentrin-AKAP-450 domain of centrosomal targeting protein
- Laminin Domain I
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- cardiovascular disorder
- microcephalic osteodysplastic primordial dwarfism, type 2
- colorectal cancer
- schizophrenia
- hereditary disorder
- Seckel syndrome
- breast carcinoma
- asthma
- microcephaly
role in cell
- migration
- proliferation
- phosphorylation in
- apoptosis
- expression in
- formation
- organization
- assembly
- misorientation
- nucleation
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
- detergent resistant lipid raft fraction
- motile cilia
- pericentriolar matrix
- cilia
- basal bodies
- centrosome
- centriole
- midbody
- cytoplasmic bridges
- asters
- microtubule organizing centers
- cytosol
- cis Golgi networks
- inner nuclear membrane
- spindle pole
- nuclear scaffolds
- centrosomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCNT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of intracellular protein transport
- cilium morphogenesis
- signal transduction
- mitotic spindle organization
- microtubule cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- centriolar satellite
- membrane
- cytosol
- microtubule
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- binding, bridging