CLSTN1

CLSTN1
Identifiers
Aliases	CLSTN1 , ALC-ALPHA, CDHR12, CSTN1, PIK3CD, XB31alpha, alcalpha1, alcalpha2, CST-1, calsyntenin 1
External IDs	OMIM: 611321; MGI: 1929895; HomoloGene: 8814; GeneCards: CLSTN1; OMA:CLSTN1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22 Start 9,728,926 bp [1] End 9,823,984 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E2 Start 149,670,925 bp [2] End 149,733,356 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in frontal pole postcentral gyrus Brodmann area 10 paraflocculus of cerebellum middle temporal gyrus orbitofrontal cortex superior frontal gyrus Brodmann area 46 cerebellar vermis right hemisphere of cerebellum Top expressed in primary motor cortex cingulate gyrus neural layer of retina prefrontal cortex habenula primary visual cortex superior frontal gyrus medial dorsal nucleus piriform cortex medial geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function X11-like protein binding calcium ion binding amyloid-beta binding protein binding kinesin binding Cellular component integral component of membrane postsynaptic membrane Golgi apparatus cell projection endoplasmic reticulum membrane membrane Golgi membrane plasma membrane synapse extracellular region cell surface cell junction endoplasmic reticulum nucleus postsynaptic density postsynaptic endosome glutamatergic synapse GABA-ergic synapse integral component of postsynaptic density membrane integral component of spine apparatus membrane Biological process cell adhesion positive regulation of synaptic transmission regulation of cell growth homophilic cell adhesion via plasma membrane adhesion molecules positive regulation of synapse assembly regulation of synapse maturation neurotransmitter receptor transport to postsynaptic membrane vesicle-mediated transport in synapse Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22883 65945 Ensembl ENSG00000171603 ENSMUSG00000039953 UniProt O94985 Q9EPL2 RefSeq (mRNA) NM_014944 NM_001009566 NM_001302883 NM_001290989 NM_023051 RefSeq (protein) NP_001009566 NP_001289812 NP_055759 NP_001277918 NP_075538 Location (UCSC) Chr 1: 9.73 – 9.82 Mb Chr 4: 149.67 – 149.73 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Calsyntenin-1 is a protein that in humans is encoded by the CLSTN1 gene. ^{[5] [6]}

Clinical relevance

Mutations in this gene have been shown associated to pathogenic mechanisms of Alzheimer's disease. ^[7]

Interactions

CLSTN1 has been shown to interact with APBA2 ^{[8] [9]} and Amyloid precursor protein. ^{[8] [9]}

References

1. GRCh38: Ensembl release 89: ENSG00000171603 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039953 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "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 Research. 5 (6): 355–64. doi: 10.1093/dnares/5.6.355 . PMID   10048485.
6. "Entrez Gene: CLSTN1 calsyntenin 1".
7. Vagnoni A, Perkinton MS, Gray EH, Francis PT, Noble W, Miller CC (Jul 2012). "Calsyntenin-1 mediates axonal transport of the amyloid precursor protein and regulates Aβ production". Human Molecular Genetics. 21 (13): 2845–54. doi:10.1093/hmg/dds109. PMC   3373235 . PMID   22434822.
8. Araki Y, Tomita S, Yamaguchi H, Miyagi N, Sumioka A, Kirino Y, Suzuki T (Dec 2003). "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism". The Journal of Biological Chemistry. 278 (49): 49448–58. doi: 10.1074/jbc.M306024200 . PMID   12972431.
9. Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H, Yamamoto T, De Strooper B, Yamamoto K, Suzuki T (Jun 2004). "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation". The Journal of Biological Chemistry. 279 (23): 24343–54. doi: 10.1074/jbc.M401925200 . PMID   15037614.

External links

• Human CLSTN1 genome location and CLSTN1 gene details page in the UCSC Genome Browser .
• Human PIK3CD genome location and PIK3CD gene details page in the UCSC Genome Browser .

Further reading

• Konecna A, Frischknecht R, Kinter J, Ludwig A, Steuble M, Meskenaite V, Indermühle M, Engel M, Cen C, Mateos JM, Streit P, Sonderegger P (Aug 2006). "Calsyntenin-1 docks vesicular cargo to kinesin-1" (PDF). Molecular Biology of the Cell. 17 (8): 3651–63. doi:10.1091/mbc.E06-02-0112. PMC   1525238 . PMID   16760430.^{[ permanent dead link ]}
• Schmitt-Ulms G, Hansen K, Liu J, Cowdrey C, Yang J, DeArmond SJ, Cohen FE, Prusiner SB, Baldwin MA (Jun 2004). "Time-controlled transcardiac perfusion cross-linking for the study of protein interactions in complex tissues". Nature Biotechnology. 22 (6): 724–31. doi:10.1038/nbt969. PMID   15146195. S2CID   36630738.
• Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H, Yamamoto T, De Strooper B, Yamamoto K, Suzuki T (Jun 2004). "Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation". The Journal of Biological Chemistry. 279 (23): 24343–54. doi: 10.1074/jbc.M401925200 . PMID   15037614.
• Araki Y, Tomita S, Yamaguchi H, Miyagi N, Sumioka A, Kirino Y, Suzuki T (Dec 2003). "Novel cadherin-related membrane proteins, Alcadeins, enhance the X11-like protein-mediated stabilization of amyloid beta-protein precursor metabolism". The Journal of Biological Chemistry. 278 (49): 49448–58. doi: 10.1074/jbc.M306024200 . PMID   12972431.
• Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC   187542 . PMID   12421765.
• Vogt L, Schrimpf SP, Meskenaite V, Frischknecht R, Kinter J, Leone DP, Ziegler U, Sonderegger P (Jan 2001). "Calsyntenin-1, a proteolytically processed postsynaptic membrane protein with a cytoplasmic calcium-binding domain". Molecular and Cellular Neurosciences. 17 (1): 151–66. doi:10.1006/mcne.2000.0937. PMID   11161476. S2CID   30856590.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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 (Jan 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.