CLSTN1
| Calsyntenin 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CLSTN1 ; ALC-ALPHA; CDHR12; CSTN1; PIK3CD; XB31alpha; alcalpha1; alcalpha2 | ||||||||||||
| External IDs | OMIM: 611321 MGI: 1929895 HomoloGene: 8814 GeneCards: CLSTN1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 22883 | 65945 | |||||||||||
| Ensembl | ENSG00000171603 | ENSMUSG00000039953 | |||||||||||
| UniProt | O94985 | Q9EPL2 | |||||||||||
| RefSeq (mRNA) | NM_001009566 | NM_001290989 | |||||||||||
| RefSeq (protein) | NP_001009566 | NP_001277918 | |||||||||||
| Location (UCSC) | Chr 1: 9.79 – 9.88 Mb | Chr 4: 149.59 – 149.65 Mb | |||||||||||
| PubMed search | |||||||||||||
Calsyntenin-1 is a protein that in humans is encoded by the CLSTN1 gene.[1][2]
Clinical relevance
Mutations in this gene have been shown associated to pathogenic mechanisms of Alzheimer's disease.[3]
Interactions
CLSTN1 has been shown to interact with APBA2[4][5] and Amyloid precursor protein.[4][5]
References
- ↑ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (May 1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
- ↑ "Entrez Gene: CLSTN1 calsyntenin 1".
- ↑ Vagnoni, A.; Perkinton, M. S.; Gray, E. H.; Francis, P. T.; Noble, W.; Miller, C. C. J. (20 March 2012). "Calsyntenin-1 mediates axonal transport of the amyloid precursor protein and regulates A production". Human Molecular Genetics 21 (13): 2845–2854. doi:10.1093/hmg/dds109.
- ↑ 4.0 4.1 Araki, Yoichi; Tomita Susumu; Yamaguchi Haruyasu; Miyagi Naomi; Sumioka Akio; Kirino Yutaka; Suzuki Toshiharu (Dec 2003). "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism". J. Biol. Chem. (United States) 278 (49): 49448–58. doi:10.1074/jbc.M306024200. ISSN 0021-9258. PMID 12972431.
- ↑ 5.0 5.1 Araki, Yoichi; Miyagi Naomi, Kato Naoko, Yoshida Tomohiro, Wada Sachiyo, Nishimura Masaki, Komano Hiroto, Yamamoto Tohru, De Strooper Bart, Yamamoto Kazuo, Suzuki Toshiharu (Jun 2004). "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation". J. Biol. Chem. (United States) 279 (23): 24343–54. doi:10.1074/jbc.M401925200. ISSN 0021-9258. PMID 15037614.
Further reading
- Konecna A, Frischknecht R, Kinter J et al. (2006). "Calsyntenin-1 docks vesicular cargo to kinesin-1.". Mol. Biol. Cell 17 (8): 3651–63. doi:10.1091/mbc.E06-02-0112. PMC 1525238. PMID 16760430.
- Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Schmitt-Ulms G, Hansen K, Liu J et al. (2005). "Time-controlled transcardiac perfusion cross-linking for the study of protein interactions in complex tissues.". Nat. Biotechnol. 22 (6): 724–31. doi:10.1038/nbt969. PMID 15146195.
- Araki Y, Miyagi N, Kato N et al. (2004). "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation.". J. Biol. Chem. 279 (23): 24343–54. doi:10.1074/jbc.M401925200. PMID 15037614.
- Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Araki Y, Tomita S, Yamaguchi H et al. (2004). "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism.". J. Biol. Chem. 278 (49): 49448–58. doi:10.1074/jbc.M306024200. PMID 12972431.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
- Vogt L, Schrimpf SP, Meskenaite V et al. (2001). "Calsyntenin-1, a proteolytically processed postsynaptic membrane protein with a cytoplasmic calcium-binding domain.". Mol. Cell. Neurosci. 17 (1): 151–66. doi:10.1006/mcne.2000.0937. PMID 11161476.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.