Centromere protein J is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''CENPJ''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is also known as centrosomal P4.1-associated protein (CPAP). During
cell division
Cell division is the process by which a parent cell (biology), cell divides into two daughter cells. Cell division usually occurs as part of a larger cell cycle in which the cell grows and replicates its chromosome(s) before dividing. In eukar ...
, this protein plays a structural role in the maintenance of
centrosome
In cell biology, the centrosome (Latin centrum 'center' + Greek sōma 'body') (archaically cytocentre) is an organelle that serves as the main microtubule organizing center (MTOC) of the animal cell, as well as a regulator of cell-cycle progre ...
integrity and normal
spindle morphology, and it is involved in
microtubule
Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nanometer, nm and have an inner diameter bet ...
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
CREB-binding protein, also known as CREBBP or CBP or KAT3A, (where CREB is cAMP response element-binding protein) is a coactivator encoded by the ''CREBBP'' gene in humans, located on chromosome 16p13.3. CBP has intrinsic acetyltransferase fun ...
.
The ''
Drosophila
''Drosophila'' (), from Ancient Greek δρόσος (''drósos''), meaning "dew", and φίλος (''phílos''), meaning "loving", is a genus of fly, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or p ...
'' ortholog, sas-4, has been shown to be a
scaffold
Scaffolding, also called scaffold or staging, is a temporary structure used to support a work crew and materials to aid in the construction, maintenance and repair of buildings, bridges and all other human-made structures. Scaffolds are widely u ...
for a
cytoplasm
The cytoplasm describes all the material within a eukaryotic or prokaryotic cell, enclosed by the cell membrane, including the organelles and excluding the nucleus in eukaryotic cells. The material inside the nucleus of a eukaryotic cell a ...
ic complex of
Cnn
Cable News Network (CNN) is a multinational news organization operating, most notably, a website and a TV channel headquartered in Atlanta. Founded in 1980 by American media proprietor Ted Turner and Reese Schonfeld as a 24-hour cable ne ...
,
Asl, CP-190,
tubulin
Tubulin in molecular biology can refer either to the tubulin protein superfamily of globular proteins, or one of the member proteins of that superfamily. α- and β-tubulins polymerize into microtubules, a major component of the eukaryotic cytosk ...
and D-PLP (similar to the human proteins
PCNT
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the ''PCNT'' gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM ...
and
AKAP9
A-kinase anchor protein 9 is a protein that in humans is encoded by the ''AKAP9'' gene. AKAP9 is also known as Centrosome- and Golgi-localized protein kinase N-associated protein (CG-NAP) or AKAP350 or AKAP450
Function
The A-kinase anchor pro ...
). These complexes are then anchored at the
centriole
In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers ( Pinophyta), flowering plants ( angiosperms) and most fungi, an ...
to begin formation of the centrosome.
Clinical significance
Mutations in ''CENPJ'' are associated with
Seckel syndrome
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal r ...
type 4 and primary autosomal recessive
microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it m ...
, a disorder characterized by severely reduced
brain
The brain is an organ (biology), organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head (cephalization), usually near organs for ...
size and
intellectual disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...
.
Interestingly, CENPJ interacts with other microcephaly aossciated proteins such as
WDR62 and both coordinate a regulatory function neocortical development and brain growth.
[ ]
Interactions
CENPJ has been shown to
interact with
EPB41.
See also
* ''
CENPE
Centromere-associated protein E is a protein that in humans is encoded by the ''CENPE'' gene.
Centromere-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centromere-associated ...
''
* ''
CENPF
Centromere protein F is a protein that in humans is encoded by the ''CENPF'' gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.
Function
CENPF is ...
''
* ''
CENPT''
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
*
*
{{Chromosome genetics
Genes mutated in mice