PCNT. Pericentrin
(21q22.3),
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNT&keywords=PCNT
Pericentrin 2 3 4 5 , Kendrin 2 3 4 , Pericentrin-B 3 4 , PCNT2 3 4
Pericentrin 2 (Kendrin)
2
, Seckel Syndrome 4
2
, Pericentrin-380
3
Pericentrin-2 3 KIAA0402 4, MOPD2 3 , PCNTB 3 , PCTN2 3 , SCKL4 3
KEN 3 , PCN 3
Pericentrin-2 3 KIAA0402 4, MOPD2 3 , PCNTB 3 , PCTN2 3 , SCKL4 3
KEN 3 , PCN 3
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]
CENTRL, CP110, Cep110, Centrosoma Coiled-Coil protein kDa 110
(9q33.2) Centriolin
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTRL&keywords=CNTRL
Centriolin
2
3
4
5
,Centrosomal Protein Of 110 KDa
3
4
,Centrosomal Protein 110kDa
2
3
,Centrosomal Protein 1
2
4
,CEP110
3
4
,CEP1
3
4
This gene encodes a centrosomal protein required
for the centrosome to function as a microtubule organizing center. The
gene product is also associated with centrosome maturation. One version
of stem cell myeloproliferative disorder is the result of a reciprocal
translocation between chromosomes 8 and 9, with the breakpoint
associated with fibroblast growth factor receptor 1 and centrosomal
protein 1. [provided by RefSeq, Jul 2008]
Among its related pathways are FGFR1 mutant receptor activation and Regulation of PLK1 Activity at G2/M Transition.
Gene Ontology (GO) annotations related to this gene include nucleotide binding.
CEP250,
(2q11.22) Centrosome-Associated Protein CEP250- , C-Nap1
This gene encodes a core centrosomal protein required for
centriole-centriole cohesion during interphase of the cell cycle. The
encoded protein dissociates from the centrosomes when parental
centrioles separate at the beginning of mitosis. The protein associates
with and is phosphorylated by NIMA-related kinase 2, which is also
associated with the centrosome. Alternative splicing results in multiple
transcript variants encoding different isoforms. [provided by RefSeq,
Dec 2015).
CENPF
(1q41), Centromere protein F
Centromere Protein F
2
3
4
5
This gene encodes a protein that associates with the
centromere-kinetochore complex. The protein is a component of the
nuclear matrix during the G2 phase of interphase. In late G2 the protein
associates with the kinetochore and maintains this association through
early anaphase. It localizes to the spindle midzone and the
intracellular bridge in late anaphase and telophase, respectively, and
is thought to be subsequently degraded. The localization of this protein
suggests that it may play a role in chromosome segregation during
mitotis. It is thought to form either a homodimer or heterodimer.
Autoantibodies against this protein have been found in patients with
cancer or graft versus host disease. [provided by RefSeq, Jul 2008]
CEP68,
(2p14), Centrosomal Protein Of 68 KDa
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP68&keywords=CEP68
(2p14), Centrosomal Protein Of 68 KDa
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP68&keywords=CEP68
Centrosomal Protein 68
2
3
5
KIAA0582
2
3 ,
CEP68 (Centrosomal Protein 68) is a Protein Coding gene. Diseases associated with CEP68 include Retinitis Pigmentosa 28 and Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is AKAP6.
CEP68 (Centrosomal Protein 68) is a Protein Coding gene. Diseases associated with CEP68 include Retinitis Pigmentosa 28 and Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is AKAP6.
Involved in maintenance of centrosome
cohesion, probably as part of a linker structure which prevents
centrosome splitting (PubMed:18042621). Required for localization of
CDK5RAP2 to the centrosome during interphase (PubMed:24554434,
PubMed:25503564).CEP68_HUMAN,Q76N32
Size: 757 amino acids Molecular mass: 81102 Da
Quaternary structure: Interacts with CNTLN; the interaction
recruits CEP68 to the centrosome (PubMed:24554434). Interacts with the
SCF(FBXW11) complex which contains SKP1, CUL1 and FBXW11; the
interaction is probably mediated by FBXW11 and the complex also contains
CDK5RAP2 and PCNT (PubMed:25503564). Also interacts with F-box protein
BTRC (PubMed:25704143, PubMed:25503564). Interacts with
serine/threonine-protein kinase PLK1; the interaction leads to
phosphorylation of CEP68 and its subsequent degradation
(PubMed:25503564). Interacts with NEK2; the interaction leads to
phosphorylation of CEP68 (PubMed:24554434)
NINL,
( 20p11.21), Ninein Like protein.
Ninein Like
2
3
5
,Ninein-Like Protein
2
3
4
,NLP
3
4
,KIAA0980.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NINL&keywords=NINLNINL (Ninein Like) is a Protein Coding gene. Diseases associated with NINL include Trichostrongylosis and Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NIN.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NINL&keywords=NINLNINL (Ninein Like) is a Protein Coding gene. Diseases associated with NINL include Trichostrongylosis and Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NIN.
Involved in the microtubule organization in
interphase cells. Overexpression induces the fragmentation of the Golgi,
and causes lysosomes to disperse toward the cell periphery; it also
interferes with mitotic spindle assembly. May play a role in ovarian
carcinogenesis. NINL_HUMAN,Q9Y2I6. Size: 1382 amino acids.. Molecular mass: 156344 Da . Quaternary structure: Interacts with gamma-tubulin and TUBGCP4.
Interacts with anaphase promoting complex/cyclosome (APC/C). Interacts
with CDC20 and FZR1. Isoform 2 interacts with LCA5 and USH2A.
NIN,(14q22.1) , Ninein. Glycogen Synthase Kinase 3 Beta-Interacting Protein
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NIN&keywords=NINNinein 2 3 4 5,
This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
Names: Glycogen Synthase Kinase 3 Beta-Interacting Protein 3 4Ninein (GSK3B Interacting Protein) 2 3 , HNinein 3 4Ninein Centrosomal Protein 3 , GSK3B-Interacting Protein 4 KIAA1565 4 ,SCKL7.
Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061). NIN_HUMAN,Q8N4C6
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP135&keywords=CEP135Centrosomal Protein 135
2
3
5
Centrosomal Protein 4
2
3
4
,KIAA0635
2
3
4
,Centrosomal Protein Of 135 KDa
3
4
Centrosomal Protein 135kDa
2
3
,CEP4
3
4
,Centrosome Protein Cep135
3
Cep135
4
,MCPH8
3
Involved in early centriole
assembly/duplication/biogenesis/formation/. Required for centriole
elongation. Required for the recruitment of CEP295 to the proximal end
of new-born centrioles at the centriolar microtubule wall during early S
phase in a PLK4-dependent manner.
CP135_HUMAN,Q66GS9
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NIN&keywords=NINNinein 2 3 4 5,
This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
Names: Glycogen Synthase Kinase 3 Beta-Interacting Protein 3 4Ninein (GSK3B Interacting Protein) 2 3 , HNinein 3 4Ninein Centrosomal Protein 3 , GSK3B-Interacting Protein 4 KIAA1565 4 ,SCKL7.
Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061). NIN_HUMAN,Q8N4C6
- CEP350,
- (1q25.2) Centrosome-Associated Protein 350.
- https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350&keywords=CEP350
- The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Names: Centrosomal Protein 350 2 3 5 ,Centrosome-Associated Protein 350 3 4 Centrosomal Protein 350kDa 2 3 ,CAP350 3 4 Centrosome-Associated Protein Of 350 KDa 4 ,Centrosome Associated Protein 350 2 KIAA0480 4 ,Cep350 4 ,GM133 3 . Size:3117 amino acids Molecular mass:350930 Da. Quaternary structure: Part of a ternary complex that contains CEP350, FGFR1OP and MAPRE1. Interacts (via C-terminus) directly with FGFR1OP (via N-terminus) (PubMed:16314388, PubMed:28625565, PubMed:28428259). Interacts with NR1H3, PPARA, PPARD and PPARG (PubMed:15615782). Interacts directly with microtubules (PubMed:17878239). Interacts with the fusion protein FGFR1OP-FGFR1, and by doing so recruits and activates PI3K and PLC-gamma (PubMed:18412956). Interacts with CYLD (PubMed:25134987). Interacts with CFAP157 (By similarity). Interacts with CEP19 (via C-terminus) (PubMed:28659385).
CEP135 (4q12),
Centrosomal Protein Of 135 KDa,
CP135_HUMAN,Q66GS9
Centrosomal protein involved in centriole
biogenesis. Acts as a scaffolding protein during early centriole
biogenesis. Required for the targeting of centriole satellite proteins
to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of
WRAP73 to centrioles. Also required for centriole-centriole cohesion
during interphase by acting as a platform protein for CEP250 at the
centriole. Required for the recruitment of CEP295 to the proximal end of
new-born centrioles at the centriolar microtubule wall during early S
phase in a PLK4-dependent manner. Required for the recruitment of CEP295
to the proximal end of new-born centrioles at the centriolar
microtubule wall during early S phase in a PLK4-dependent manner
(PubMed:27185865) CP135_HUMAN,Q66GS9
CEP112, (17q24.1) Recommended name: Centrosomal protein of 112 kDa
Centrosomal Protein 112
2
3
5
Coiled-Coil Domain-Containing Protein 46 3 4 , Centrosomal Protein Of 112 KDa 3 4 , Centrosomal Protein 112kDa 2 3 , CCDC46 3 4 ,Coiled-Coil Domain Containing 46 2 ,MACOCO
This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A (GABA A) receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Coiled-Coil Domain-Containing Protein 46 3 4 , Centrosomal Protein Of 112 KDa 3 4 , Centrosomal Protein 112kDa 2 3 , CCDC46 3 4 ,Coiled-Coil Domain Containing 46 2 ,MACOCO
This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A (GABA A) receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
CEP43
Interaktioaffiniteettijärjestys:
PCNT,
CNTRL
CEP250
CENPF
CEP68
NINL
AKAP9 (7q26.2), A-Kinase Anchoring Protein 9; CG-Nap. Hyperion
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AKAP9&keywords=AKAP9
A-Kinase Anchoring Protein 9 2 3 5
Centrosome- And Golgi-Localized Protein Kinase N-Associated Protein 2 3
Centrosome- And Golgi-Localized PKN-Associated Protein 3 4
Protein Phosphatase 1, Regulatory Subunit 45 2 3 Protein Kinase A Anchoring Protein 9 2 3 Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AKAP9&keywords=AKAP9
A-Kinase Anchoring Protein 9 2 3 5
Centrosome- And Golgi-Localized Protein Kinase N-Associated Protein 2 3
Centrosome- And Golgi-Localized PKN-Associated Protein 3 4
Protein Phosphatase 1, Regulatory Subunit 45 2 3 Protein Kinase A Anchoring Protein 9 2 3 Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697).
-
[Isoform 4]: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations.
GOLGB1
CDK5RAP2, ( 9q33.2) CEP215,
gamma TuRC, centrosomin, CDK5 regulatory subunit associated protein 2. https://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK5RAP2&keywords=gamma-TuRC
PDE4DIP
GCC2
FYCO
GORASP1
CEP350
GOLGA2
JAKMIP1
PRKAR2B
CEP135
MIPOL1
CLIP4
TBK1
GRIPAP1
PRKAR2A
CEP112
NIN
ERC1
CIT
TBKBP1
HSBD1
(CEP43, FGFR oncogene partner ?, ei löydy)
PRKACA
RDX
TLE1
TLE2
GOLGA3
USP13
C1orf50
HOOK1
TLE3
GCC1
Inga kommentarer:
Skicka en kommentar