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CLSTN1

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Protein-coding gene in humans
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
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for CLSTN1Genomic location for CLSTN1
Band1p36.22Start9,728,926 bp
End9,823,984 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)Genomic location for CLSTN1Genomic location for CLSTN1
Band4|4 E2Start149,670,925 bp
End149,733,356 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 4: 149.67 – 149.73 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Calsyntenin-1 is a protein that in humans is encoded by the CLSTN1 gene.

Clinical relevance

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

Interactions

CLSTN1 has been shown to interact with APBA2 and Amyloid precursor protein.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000171603Ensembl, May 2017
  2. ^ 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. ^ 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

Further reading


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