CLSTN1

CLSTN1
Identifiers
Aliases CLSTN1, ALC-ALPHA, CDHR12, CSTN1, PIK3CD, XB31alpha, alcalpha1, alcalpha2, CST-1, calsyntenin 1
External IDs MGI: 1929895 HomoloGene: 8814 GeneCards: CLSTN1
RNA expression pattern
More reference expression data
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_001009566.1
NP_001289812.1
NP_055759.3

NP_001277918.1
NP_075538.1

Location (UCSC) Chr 1: 9.73 – 9.82 Mb Chr 4: 149.59 – 149.65 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Calsyntenin-1 is a protein that in humans is encoded by the CLSTN1 gene.[3][4]

Clinical relevance

Mutations in this gene have been shown associated to pathogenic mechanisms of Alzheimer's disease.[5]

Interactions

CLSTN1 has been shown to interact with APBA2[6][7] and Amyloid precursor protein.[6][7]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. "Entrez Gene: CLSTN1 calsyntenin 1".
  5. 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. PMID 22434822.
  6. 1 2 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.
  7. 1 2 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.

Further reading


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