Identity
HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
KIAA1598,shootin-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57698
MIM: 611171
HGNC: 29319
Ensembl: ENSG00000187164
Variants:
dbSNP: 57698
ClinVar: 57698
TCGA: ENSG00000187164
COSMIC: SHTN1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Axon guidance | REACTOME | R-HSA-422475 |
| L1CAM interactions | REACTOME | R-HSA-373760 |
| Recycling pathway of L1 | REACTOME | R-HSA-437239 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32371045 | 2020 | Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity. | 2 |
| 32371045 | 2020 | Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity. | 2 |
| 30411541 | 2018 | Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate. | 5 |
| 30411541 | 2018 | Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate. | 5 |
| 26293343 | 2015 | Rnaset2 inhibits melanocyte outgrowth possibly through interacting with shootin1. | 3 |
| 26293343 | 2015 | Rnaset2 inhibits melanocyte outgrowth possibly through interacting with shootin1. | 3 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
Citation
Dessen P
SHTN1 (shootin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/55059
