Jump to content

CLSTN1

From Wikipedia, the free encyclopedia
CLSTN1
Identifiers
AliasesCLSTN1, ALC-ALPHA, CDHR12, CSTN1, PIK3CD, XB31alpha, alcalpha1, alcalpha2, CST-1, calsyntenin 1
External IDsOMIM: 611321; MGI: 1929895; HomoloGene: 8814; GeneCards: CLSTN1; OMA:CLSTN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 4: 149.67 – 149.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Clinical relevance

[edit]

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

Interactions

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171603Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039953Ensembl, 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. ^ a b 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. ^ a b 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.
[edit]

Further reading

[edit]