Gene Gene information from NCBI Gene database.
Entrez ID 22883
Gene name Calsyntenin 1
Gene symbol CLSTN1
Synonyms (NCBI Gene)
ALC-ALPHACDHR12CST-1CSTN1PIK3CDXB31alphaalcalpha1alcalpha2
Chromosome 1
Chromosome location 1p36.22
Summary 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
miRNA miRNA information provided by mirtarbase database.
935
miRTarBase ID miRNA Experiments Reference
MIRT016329 hsa-miR-193b-3p Microarray 20304954
MIRT024919 hsa-miR-215-5p Microarray 19074876
MIRT026222 hsa-miR-192-5p Microarray 19074876
MIRT028868 hsa-miR-26b-5p Microarray 19088304
MIRT049924 hsa-miR-30a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001540 Function Amyloid-beta binding IDA 17332754
GO:0001558 Process Regulation of cell growth IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 17332754, 23519214, 29578633, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611321 17447 ENSG00000171603
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94985
Protein 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)]
Protein function Postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation (By similarity). Promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, whic
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00028 Cadherin 169 258 Cadherin domain Domain
PF13385 Laminin_G_3 365 510 Domain
Tissue specificity 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:0000269|PubMed:12498
Sequence
MLRRPAPALAPAARLLLAGLLCGGGVWAARVNKHKPWLEPTYHGIVTENDNTVLLDPPLI
ALDKDAPLRFAESFEVTVTKEGEICGFKIHGQNVPFDAVVVDKSTGEGVIRSKEKLDCEL
QKDYSFTIQAYDCGKGPDGTNVKKSHKATVHIQVNDVNEYAPVFKEKSYKATVIEGKQYD
SILRVEAVDADCSPQFSQICSYEIITPDVPFTVDKDGYIKNTEKLNYGKEHQYKLTVTAY
DCGKKRATEDVLVKISIK
PTCTPGWQGWNNRIEYEPGTGALAVFPNIHLETCDEPVASVQ
ATVELETSHIGKGCDRDTYSEKSLHRLCGAAAGTAELLPSPSGSLNWTMGLPTDNGHDSD
QVFEFNGTQAVRIPDGVVSVSPKEPFTISVWMRHGPFGRKKETILCSSDKTDMNRHHYSL
YVHGCRLIFLFRQDPSEEKKYRPAEFHWKLNQVCDEEWHHYVLNVEFPSVTLYVDGTSHE
PFSVTEDYPLHPSKIETQLVVGACWQEFSG
VENDNETEPVTVASAGGDLHMTQFFRGNLA
GLTLRSGKLADKKVIDCLYTCKEGLDLQVLEDSGRGVQIQAHPSQLVLTLEGEDLGELDK
AMQHISYLNSRQFPTPGIRRLKITSTIKCFNEATCISVPPVDGYVMVLQPEEPKISLSGV
HHFARAASEFESSEGVFLFPELRIISTITREVEPEGDGAEDPTVQESLVSEEIVHDLDTC
EVTVEGEELNHEQESLEVDMARLQQKGIEVSSSELGMTFTGVDTMASYEEVLHLLRYRNW
HARSLLDRKFKLICSELNGRYISNEFKVEVNVIHTANPMEHANHMAAQPQFVHPEHRSFV
DLSGHNLANPHPFAVVPSTATVVIVVCVSFLVFMIILGVFRIRAAHRRTMRDQDTGKENE
MDWDDSALTITVNPMETYEDQHSSEEEEEEEEEEESEDGEEEDDITSAESESSEEEEGEQ
GDPQNATRQQQLEWDDSTLSY
Sequence length 981
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME CLINVAR_DG 16984281, 24136356, 24165795, 24610295, 25352054, 26437962, 26732860
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME BEFREE 24136356, 27116393, 27616589, 28167755, 28842185, 28972011, 29387064, 29535736, 29556229, 29563914, 29675019, 30116245, 30194267, 30245694, 31031754
View all (1 more)
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME GENOMICS_ENGLAND_DG 24136356, 24165795, 29556229
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME UNIPROT_DG 24136356
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME ORPHANET_DG 24136356
★☆☆☆☆
Found in Text Mining only
Activated PI3K-delta syndrome ACTIVATED PI3K-DELTA SYNDROME Orphanet
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 20445019
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12556562, 16115127, 23705826, 24966925, 30639430, 31412710
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18483299, 18665177, 22685175, 23958920, 24244612, 26080839, 27018341, 28125433, 28159681, 28295182, 28891959, 29179029, 29574283, 30022166, 30669372
View all (2 more)
★☆☆☆☆
Found in Text Mining only