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CEP290

Official Full Name

centrosomal protein 290kDa
Overview

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.
Synonyms

CEP290; centrosomal protein 290kDa; centrosomal protein of 290 kDa; 3H11Ag; BBS14; cancer/testis antigen 87; CT87; FLJ13615; JBTS5; Joubert syndrome 5; KIAA0373; LCA10; Meckel syndrome; type 4; MKS4; nephrocystin 6; NPHP6; POC3; POC3 centriolar protein homolog (Chlamydomonas); rd16; SLSN6; Bardet-Biedl syndrome 14 protein; CE290_HUMAN; CTCL tumor antigen se2 2; FLJ21979; JBTS6; Meckel syndrome, type 4; Monoclonal 3H11 antigen; Nephrocystin-6; POC3 centriolar protein homolog; Prostate cancer antigen T21; SLSN6 1, 2, 5; Tumor antigen se2-2; nephrocytsin-6; OTTHUMP00000242341; CTCL tumor antigen se2-2;

Species	Cat.#	Product name	Source (Host)	Tag	Protein Length	Price
Human	CEP290-11112H	Recombinant Human CEP290, His-tagged	E.coli	His	869-1103a.a.	$319 / 25ug
Human	CEP290-1134H	Recombinant Human CEP290 Protein, GST-Tagged	Wheat Germ	GST		Inquiry
Human	CEP290-3231HF	Recombinant Full Length Human CEP290 Protein, GST-tagged	In Vitro Cell Free System	GST	164 amino acids	Inquiry
Zebrafish	CEP290-7640Z	Recombinant Zebrafish CEP290	Mammalian Cell	His		Inquiry

Involved Pathway
Protein Function
Interacting Protein

CEP290 involved in several pathways and played different roles in them. We selected most pathways CEP290 participated on our site, such as Anchoring of the basal body to the plasma membrane, Assembly of the primary cilium, Cell Cycle, which may be useful for your reference. Also, other proteins which involved in the same pathway with CEP290 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name	Pathway Related Protein
Anchoring of the basal body to the plasma membrane	NEK2;CEP70;BBS13;CC2D2A;FBF1;TCTN1;DCTN3;CDK5RAP2;CEP78
Assembly of the primary cilium	TUBB4B;ODF2;CEP89;CSNK1D;CEP97;TSGA14;DYNLL2A;MKS1;TTC30A1
Cell Cycle	SKP2;MAD2L2;ACD;CDKN2B;ANAPC5;WEE2;SDCCAG8;RB1;CDKN1BA
Cell Cycle, Mitotic	KNTC1;NEDD1;NEK7;CTDNEP1B;ODF2;NEK9;GORASP2;TUBG1;ARPP19B
Centrosome maturation	NDE1;DCTN1A;NINL;CDK11A;MAPRE1;ODF2;TUBB4B;TUBGCP5;TUBG2
G2/M Transition	DCTN3;DYNC1H1;TUBG2;NEDD1;HAUS2;TUBG1;SSNA1;NINL;MAPRE1A
Loss of Nlp from mitotic centrosomes	OFD1;CEP72;DCTN1A;CEP164;TUBG1;SDCCAG8;CLASP1A;CEP57;CEP70
Loss of proteins required for interphase microtubule organizationfrom the centrosome	NINL;SDCCAG8;PCM1;TUBG1;SSNA1;CEP57;MAPRE1B;HAUS2;ODF2

CEP290 has several biochemical functions, for example, NOT microtubule minus-end binding, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by CEP290 itself. We selected most functions CEP290 had, and list some proteins which have the same functions with CEP290. You can find most of the proteins on our site.

Function	Related Protein
NOT microtubule minus-end binding
protein binding	LYVE1;CDKN2D;DRAM1;IL28RA;TWIST2;VEGFAB;FRAS1;DIS3L2;HILPDA

CEP290 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with CEP290 here. Most of them are supplied by our site. Hope this information will be useful for your research of CEP290.

CCP110; CEP97; CEP76; ZNF423; CEP131; CCDC13