Cell Biology Antibodies 5

Anti-TCTN1 Antibody (CAB14928)

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SKU:
CAB14928
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-TCTN1 Antibody
Antibody SKU:CAB14928
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 130-310 of human TCTN1 (NP_001076006.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:MCF7, HT-29, 293T, NCI-H460
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 130-310 of human TCTN1 (NP_001076006.1).
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:NFTA NPPQ RVFE LVDQ INPS IFCI HITN YKPA LSFI NPEV PDEN NFDT LMKT SDGF TLNA ESYV SFTT KLDI PTAA KYEY GVPL QTSD SFLR FPSS LTSS LCTD NNPA AFLV NQAV KCTR KINL EQCE EIEA LSMA FYSS PEIL RVPD SRKK VPIT VQSI VIQS LNKT LTRR EDTD VLQP T
Gene ID:79600
Uniprot:Q2MV58
Cellular Location:Cytoplasm, Secreted, cilium basal body, cytoskeleton
Calculated MW:28kDa/52kDa/58kDa/61kDa/63kDa/64kDa
Observed MW:63kDa
Synonyms:TCTN1, JBTS13, TECT1
Background:This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants.
UniProt Protein Function:TCTN1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23. Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13). JBTS13 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the tectonic family. 6 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 12q24.11

Cellular Component: extracellular space; cytoskeleton; membrane; cytosol

Biological Process: telencephalon development; central nervous system interneuron axonogenesis; in utero embryonic development; somatic motor neuron differentiation; organelle organization and biogenesis; neural tube formation; dorsoventral neural tube patterning; regulation of smoothened signaling pathway

Disease: Joubert Syndrome 13

NCBI Summary:This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
UniProt Code:Q2MV58
NCBI GenInfo Identifier:130978359
NCBI Gene ID:79600
NCBI Accession:NP_001076007
UniProt Related Accession:Q2MV58
Molecular Weight:28kDa; 52kDa; 58kDa; 61kDa; 63kDa; 64kDa
NCBI Full Name:tectonic-1 isoform 1
NCBI Synonym Full Names:tectonic family member 1
NCBI Official Symbol:TCTN1  
NCBI Official Synonym Symbols:TECT1; JBTS13  
NCBI Protein Information:tectonic-1
UniProt Protein Name:Tectonic-1
Protein Family:Tectonic
UniProt Gene Name:TCTN1  
UniProt Entry Name:TECT1_HUMAN
Anti-TCTN1 Antibody (CAB14928)Western blot analysis of extracts of various cell lines, using TCTN1 antibody (CAB14928) 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: 5s.
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