Cell Biology Antibodies 6

Anti-CEP290 Antibody (CAB16147)

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SKU:
CAB16147
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-CEP290 Antibody
Antibody SKU:CAB16147
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 950-1050 of human CEP290 (NP_079390.3).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:U-87MG, DU145
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 950-1050 of human CEP290 (NP_079390.3).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:QKVV DNSV SLSE LELA NKQY NELT AKYR DILQ KDNM LVQR TSNL EHLE CENI SLKE QVES INKE LEIT KEKL HTIE QAWE QETK LGNE SSMD KAKK SITN S
Gene ID:80184
Uniprot:O15078
Cellular Location:Cell projection, Cytoplasm, Nucleus, centriolar satellite, centriole, centrosome, cilium, cilium basal body, cytoskeleton, microtubule organizing center
Calculated MW:180kDa/290kDa
Observed MW:290kDa
Synonyms:CEP290, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
Background: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.
UniProt Protein Function:CEP290: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5). Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6). Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4). MKS4 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14). A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Cancer Testis Antigen (CTA)

Chromosomal Location of Human Ortholog: 12q21.32

Cellular Component: centrosome; protein complex; membrane; cytoplasm; nucleus; cytosol; photoreceptor connecting cilium; gamma-tubulin complex

Molecular Function:protein binding; microtubule minus-end binding

Biological Process: regulation of cAMP metabolic process; positive regulation of transcription, DNA-dependent; organelle organization and biogenesis; establishment and/or maintenance of cell polarity; pronephros development; protein transport; eye photoreceptor cell development; retina development in camera-type eye; cilium biogenesis; mitotic cell cycle; otic vesicle formation; G2/M transition of mitotic cell cycle; hindbrain development

Disease: Bardet-biedl Syndrome 14; Meckel Syndrome, Type 4; Leber Congenital Amaurosis 10; Joubert Syndrome 5; Senior-loken Syndrome 6

NCBI Summary: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. [provided by RefSeq, Jul 2008]
UniProt Code:O15078
NCBI GenInfo Identifier:109255234
NCBI Gene ID:80184
NCBI Accession:NP_079390.3
UniProt Secondary Accession:O15078,Q1PSK5, Q66GS8, Q9H2G6, Q9H6Q7, Q9H8I0,
UniProt Related Accession:O15078
Molecular Weight:180,067 Da
NCBI Full Name:centrosomal protein of 290 kDa
NCBI Synonym Full Names:centrosomal protein 290kDa
NCBI Official Symbol:CEP290  
NCBI Official Synonym Symbols:CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag  
NCBI Protein Information:centrosomal protein of 290 kDa; nephrocytsin-6; tumor antigen se2-2; Meckel syndrome, type 4; CTCL tumor antigen se2-2; cancer/testis antigen 87; prostate cancer antigen T21; POC3 centriolar protein homolog; Bardet-Biedl syndrome 14 protein; monoclonal antibody 3H11 antigen
UniProt Protein Name:Centrosomal protein of 290 kDa
UniProt Synonym Protein Names:Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2
Protein Family:Centrosomal protein
UniProt Gene Name:CEP290  
UniProt Entry Name:CE290_HUMAN
Anti-CEP290 Antibody (CAB16147)Western blot analysis of extracts of various cell lines, using CEP290 antibody (CAB16147) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s.
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