Identity
HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
SPANK-1,SSTRIP,synamon
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: 50944
MIM: 604999
HGNC: 15474
Ensembl: ENSG00000161681
Variants:
dbSNP: 50944
ClinVar: 50944
TCGA: ENSG00000161681
COSMIC: SHANK1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35388181 | 2022 | A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. | 7 |
| 35388181 | 2022 | A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. | 7 |
| 34113010 | 2021 | Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. | 4 |
| 34113010 | 2021 | Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. | 4 |
| 32356303 | 2020 | The roles of SHANK1 in the development of colon cancer. | 5 |
| 32564287 | 2020 | Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients. | 2 |
| 32356303 | 2020 | The roles of SHANK1 in the development of colon cancer. | 5 |
| 32564287 | 2020 | Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients. | 2 |
| 30629339 | 2019 | SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. | 5 |
| 30629339 | 2019 | SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. | 5 |
| 28963042 | 2018 | Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective. | 13 |
| 28963042 | 2018 | Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective. | 13 |
| 28263956 | 2017 | SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras. | 59 |
| 28263956 | 2017 | SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras. | 59 |
| 24533096 | 2014 | A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA. | 10 |
Citation
Dessen P
SHANK1 (SH3 and multiple ankyrin repeat domains 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73217/shank1-(sh3-and-multiple-ankyrin-repeat-domains-1)
