• Gene id: 22883

Gene Summary

• Gene Symbol: CLSTN1   Gene   UCSC   Ensembl
• Aliases: ALC-ALPHA, CDHR12, CST-1, CSTN1, PIK3CD, XB31alpha, alcalpha1, alcalpha2
• Gene name: calsyntenin 1
• Alternate names: calsyntenin-1, alcadein-alpha, alzheimer-related cadherin-like protein, cadherin-related family member 12, non-classical cadherin XB31alpha,
• Gene location: 1p36.22 (9824525: 9728925)     Exons: 19     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602920

Protein Summary

• Protein general information: O94985  
  • Name: Calsyntenin 1 (Alcadein alpha) (Alc alpha) (Alzheimer related cadherin like protein) (Non classical cadherin XB31alpha) [Cleaved into: Soluble Alc alpha (SAlc alpha); CTF1 alpha (C terminal fragment 1 alpha)]
  • Length: 981  
  • Mass: 109793
  • 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). {ECO
• Sequence:

  MLRRPAPALAPAARLLLAGLLCGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLIALDKDAPLRFAESFE
  VTVTKEGEICGFKIHGQNVPFDAVVVDKSTGEGVIRSKEKLDCELQKDYSFTIQAYDCGKGPDGTNVKKSHKATV
  HIQVNDVNEYAPVFKEKSYKATVIEGKQYDSILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNTEKL
  NYGKEHQYKLTVTAYDCGKKRATEDVLVKISIKPTCTPGWQGWNNRIEYEPGTGALAVFPNIHLETCDEPVASVQ
  ATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPSPSGSLNWTMGLPTDNGHDSDQVFEFNGTQAVRIPD
  GVVSVSPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSLYVHGCRLIFLFRQDPSEEKKYRPAEFHWKL
  NQVCDEEWHHYVLNVEFPSVTLYVDGTSHEPFSVTEDYPLHPSKIETQLVVGACWQEFSGVENDNETEPVTVASA
  GGDLHMTQFFRGNLAGLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRGVQIQAHPSQLVLTLEGEDLGELDK
  AMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATCISVPPVDGYVMVLQPEEPKISLSGVHHFARAASEFESSEG
  VFLFPELRIISTITREVEPEGDGAEDPTVQESLVSEEIVHDLDTCEVTVEGEELNHEQESLEVDMARLQQKGIEV
  SSSELGMTFTGVDTMASYEEVLHLLRYRNWHARSLLDRKFKLICSELNGRYISNEFKVEVNVIHTANPMEHANHM
  AAQPQFVHPEHRSFVDLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHRRTMRDQDTGKENE
  MDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEDDITSAESESSEEEEGEQGDPQNATRQQQLEWD
  DSTLSY

• Structural information:
  • Protein Domains: (38..16-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (165..26-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043"-)
  • Interpro: IPR002126  IPR015919  IPR026914  IPR013320  
  • Prosite: PS50268
  • DIP: 31694
  • STRING: ENSP00000366513
• Other Databases: GeneCards:  CLSTN1  Malacards:  CLSTN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050806	positive regulation of synaptic transmission	IBA	biological process
GO:0051965	positive regulation of synapse assembly	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0001558	regulation of cell growth	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0090128	regulation of synapse maturation	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0099065	integral component of spine apparatus membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0098845	postsynaptic endosome	IEA	cellular component
GO:0098969	neurotransmitter receptor transport to postsynaptic membrane	IEA	biological process
GO:0099003	vesicle-mediated transport in synapse	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0042988	X11-like protein binding	IPI	molecular function
GO:0007155	cell adhesion	TAS	biological process
GO:0042988	X11-like protein binding	IPI	molecular function
GO:0019894	kinesin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq