Anti-TCTN1 Antibody (CAB14929)
- SKU:
- CAB14929
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-TCTN1 Antibody |
抗体コード: | CAB14929 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB IF |
反応性: | Human, Mouse |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 130-310 of human TCTN1 (NP_001076006.1). |
申し込み: | WB IF |
推奨希釈: | WB 1:500 - 1:2000 IF 1:50 - 1:200 |
反応性: | Human, Mouse |
ポジティブサンプル: | 293T, NCI-H460, Mouse kidney |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 130-310 of human TCTN1 (NP_001076006.1). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | 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 |
遺伝子ID: | 79600 |
Uniprot: | Q2MV58 |
セルラーロケーション: | Cytoplasm, Secreted, cilium basal body, cytoskeleton |
計算された分子量: | 28kDa/52kDa/58kDa/61kDa/63kDa/64kDa |
観察された分子量: | 63kDa |
同義語: | TCTN1, JBTS13, TECT1 |
バックグラウンド: | 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 |
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