PCNT

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]

Description

Pericentrin

Tissue specificity

Tissue enriched (skeletal muscle)

Subcell location

Centriolar satellite, Centrosome, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

21 (46324141 - 46445769)

Ensembl ID

ENSG00000160299  (ver. 103.38)

Orthologs

Mouse Pcnt: ENSMUSG00000001151

UniProt

O95613

neXtProt

NX_O95613

Human splice variants
Mouse splice variants

Protein structure