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Aliases for CLSTN1 Gene

Aliases for CLSTN1 Gene

  • Calsyntenin 1 2 3
  • Alzheimer-Related Cadherin-Like Protein 3 4
  • Cadherin-Related Family Member 12 2 3
  • Non-Classical Cadherin XB31alpha 3 4
  • Alcadein-Alpha 3 4
  • ALC-ALPHA 3 4
  • Calsyntenin-1 3
  • XB31alpha 3
  • Alcalpha1 3
  • Alcalpha2 3
  • KIAA0911 4
  • CDHR12 3
  • PIK3CD 3
  • CST-1 3
  • CSTN1 3
  • CS1 4

External Ids for CLSTN1 Gene

Previous GeneCards Identifiers for CLSTN1 Gene

  • GC01M009751
  • GC01M009632
  • GC01M009398
  • GC01M009498
  • GC01M009723
  • GC01M009711
  • GC01M008945

Summaries for CLSTN1 Gene

Entrez Gene Summary for CLSTN1 Gene

  • This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for CLSTN1 Gene

CLSTN1 (Calsyntenin 1) is a Protein Coding gene. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CLSTN3.

UniProtKB/Swiss-Prot for CLSTN1 Gene

  • Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).

Gene Wiki entry for CLSTN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLSTN1 Gene

Genomics for CLSTN1 Gene

Regulatory Elements for CLSTN1 Gene

Genomic Location for CLSTN1 Gene

Start:
9,729,021 bp from pter
End:
9,824,526 bp from pter
Size:
95,506 bases
Orientation:
Minus strand

Genomic View for CLSTN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLSTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLSTN1 Gene

Proteins for CLSTN1 Gene

  • Protein details for CLSTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94985-CSTN1_HUMAN
    Recommended name:
    Calsyntenin-1
    Protein Accession:
    O94985
    Secondary Accessions:
    • A8K183
    • Q5SR52
    • Q5UE58
    • Q71MN0
    • Q8N4K9

    Protein attributes for CLSTN1 Gene

    Size:
    981 amino acids
    Molecular mass:
    109793 Da
    Quaternary structure:
    • Directly interacts with APBA2. Forms a tripartite complex with APBA2 and APP. The CTF1 chain interacts with PSEN1. The intracellular fragment AlcICD interacts with APBB1; this interaction stabilizes AlcICD metabolism. Interacts with KLC1 and APBB1 (By similarity).
    SequenceCaution:
    • Sequence=BAA74934.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CLSTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLSTN1 Gene

Proteomics data for CLSTN1 Gene at MOPED

Post-translational modifications for CLSTN1 Gene

  • Proteolytically processed under normal cellular conditions. A primary zeta-cleavage generates a large extracellular (soluble) N-terminal domain (sAlc) and a short C-terminal transmembrane fragment (CTF1). A secondary cleavage catalyzed by presenilin gamma-secretase within the transmembrane domain releases the beta-Alc-alpha chain in the extracellular milieu and produces an intracellular fragment (AlcICD). This processing is strongly suppressed in the tripartite complex formed with APBA2 and APP, which seems to prevent the association with PSEN1.
  • Glycosylation at Asn346, Asn366, and Asn515
  • Modification sites at PhosphoSitePlus

Other Protein References for CLSTN1 Gene

No data available for DME Specific Peptides for CLSTN1 Gene

Domains for CLSTN1 Gene

Gene Families for CLSTN1 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

Protein Domains for CLSTN1 Gene

Suggested Antigen Peptide Sequences for CLSTN1 Gene

Graphical View of Domain Structure for InterPro Entry

O94985

UniProtKB/Swiss-Prot:

CSTN1_HUMAN :
  • O94985
Domain:
  • The cytoplasmic domain is involved in interaction with APBA2, as well as the binding of synaptic Ca(2+).
  • Contains 2 cadherin domains.
genes like me logo Genes that share domains with CLSTN1: view

Function for CLSTN1 Gene

Molecular function for CLSTN1 Gene

UniProtKB/Swiss-Prot Function: Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).

Gene Ontology (GO) - Molecular Function for CLSTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IDA 17332754
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17332754
GO:0019894 kinesin binding IPI 17332754
GO:0042988 X11-like protein binding IPI 12972431
genes like me logo Genes that share ontologies with CLSTN1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CLSTN1 Gene

Localization for CLSTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLSTN1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane. Cell projection. Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein. Nucleus. Note=Neurite tips. Localized in the postsynaptic membrane of both excitatory and inhibitory synapses (By similarity). The AlcICD fragment is translocated to the nucleus upon interaction with APBB1. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLSTN1 Gene COMPARTMENTS Subcellular localization image for CLSTN1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
plasma membrane 3
extracellular 2
cytosol 1
endosome 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLSTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region --
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with CLSTN1: view

Pathways for CLSTN1 Gene

SuperPathways for CLSTN1 Gene

Superpath Contained pathways
1 PI-3K cascade
2 Signaling by FGFR
3 IL-9 Signaling Pathways
4 Translation Insulin regulation of translation
5 Development HGF signaling pathway
genes like me logo Genes that share pathways with CLSTN1: view

Gene Ontology (GO) - Biological Process for CLSTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 17332754
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with CLSTN1: view

Compounds for CLSTN1 Gene

(1) HMDB Compounds for CLSTN1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with CLSTN1: view

Transcripts for CLSTN1 Gene

Unigene Clusters for CLSTN1 Gene

Calsyntenin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLSTN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b ^
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - -
SP5: - - -
SP6: - - - - -
SP7: - - -
SP8: - - -
SP9:
SP10: -
SP11:
SP12:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -

Relevant External Links for CLSTN1 Gene

GeneLoc Exon Structure for
CLSTN1
ECgene alternative splicing isoforms for
CLSTN1

Expression for CLSTN1 Gene

mRNA expression in normal human tissues for CLSTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLSTN1 Gene

SOURCE GeneReport for Unigene cluster for CLSTN1 Gene Hs.29665

mRNA Expression by UniProt/SwissProt for CLSTN1 Gene

O94985-CSTN1_HUMAN
Tissue specificity: Expressed in the brain and, a lower level, in the heart, skeletal muscle, kidney and placenta. Accumulates in dystrophic neurites around the amyloid core of Alzheimer disease senile plaques (at protein level).
genes like me logo Genes that share expressions with CLSTN1: view

No data available for mRNA differential expression in normal tissues for CLSTN1 Gene

Orthologs for CLSTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLSTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLSTN1 35
  • 99.29 (n)
  • 99.59 (a)
CLSTN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLSTN1 35
  • 86.04 (n)
  • 91.26 (a)
CLSTN1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLSTN1 35
  • 87.8 (n)
  • 92.05 (a)
CLSTN1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clstn1 35
  • 85.78 (n)
  • 92.56 (a)
Clstn1 16
Clstn1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLSTN1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLSTN1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clstn1 35
  • 85.62 (n)
  • 93.1 (a)
chicken
(Gallus gallus)
Aves CALSYNTENIN-1 36
  • 85 (a)
OneToOne
CLSTN1 35
  • 77.37 (n)
  • 85.68 (a)
lizard
(Anolis carolinensis)
Reptilia CLSTN1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clstn3 35
  • 68.23 (n)
  • 70.88 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
clstn1 35
  • 74.41 (n)
  • 77.86 (a)
clstn1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cals 36
  • 30 (a)
OneToMany
calsyntenin-1 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea casy-1 35
  • 45.71 (n)
  • 34.18 (a)
casy-1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
Species with no ortholog for CLSTN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLSTN1 Gene

ENSEMBL:
Gene Tree for CLSTN1 (if available)
TreeFam:
Gene Tree for CLSTN1 (if available)

Paralogs for CLSTN1 Gene

Paralogs for CLSTN1 Gene

Selected SIMAP similar genes for CLSTN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CLSTN1: view

Variants for CLSTN1 Gene

Sequence variations from dbSNP and Humsavar for CLSTN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs11674 -- 9,751,483(+) TTGTC(A/G)ACAGT synonymous-codon, reference
rs767762 -- 9,802,314(-) attta(A/G)ccagg intron-variant
rs935071 -- 9,814,744(-) TTTGT(A/G)GAGAC intron-variant
rs946277 -- 9,815,575(-) CCATA(A/G)TCACT intron-variant
rs946278 -- 9,815,289(-) ACTCT(A/G)CTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLSTN1 Gene

Variant ID Type Subtype PubMed ID
nsv871610 CNV Gain 21882294
nsv832203 CNV Loss 17160897
esv2662594 CNV Deletion 23128226
esv2656500 CNV Deletion 23128226
nsv827364 CNV Loss 20364138
nsv2298 CNV Loss 18451855
esv2743630 CNV Deletion 23290073
dgv11n67 CNV Loss 20364138
nsv498662 CNV Loss 21111241
esv2669918 CNV Deletion 23128226
esv2669984 CNV Deletion 23128226

Relevant External Links for CLSTN1 Gene

HapMap Linkage Disequilibrium report
CLSTN1
Human Gene Mutation Database (HGMD)
CLSTN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLSTN1 Gene

Disorders for CLSTN1 Gene

No disorders were found for CLSTN1 Gene.

No data available for UniProtKB/Swiss-Prot for CLSTN1 Gene

Publications for CLSTN1 Gene

  1. 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. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  3. Novel cadherin-related membrane proteins, Alcadeins, enhance the X11- like protein-mediated stabilization of amyloid beta-protein precursor metabolism. (PMID: 12972431) Araki Y. … Suzuki T. (J. Biol. Chem. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Coordinated metabolism of Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation. (PMID: 15037614) Araki Y. … Suzuki T. (J. Biol. Chem. 2004) 3 4

Products for CLSTN1 Gene

Sources for CLSTN1 Gene

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