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: 81858
MIM: 611885
HGNC: 25321
Ensembl: ENSG00000179526
Variants:
dbSNP: 81858
ClinVar: 81858
TCGA: ENSG00000179526
COSMIC: SHARPIN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179526 | ENST00000359551 | Q9H0F6 |
| ENSG00000179526 | ENST00000398712 | Q9H0F6 |
| ENSG00000179526 | ENST00000532536 | H0YCU2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38609546 | 2024 | Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency. | 0 |
| 38609546 | 2024 | Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency. | 0 |
| 37976837 | 2023 | Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN. | 1 |
| 37976837 | 2023 | Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN. | 1 |
| 34737388 | 2022 | A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease. | 7 |
| 34965468 | 2022 | Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN. | 0 |
| 35968603 | 2022 | SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling. | 28 |
| 34737388 | 2022 | A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease. | 7 |
| 34965468 | 2022 | Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN. | 0 |
| 35968603 | 2022 | SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling. | 28 |
| 33548083 | 2021 | Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells. | 1 |
| 34339558 | 2021 | SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation. | 7 |
| 34785643 | 2021 | A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages. | 8 |
| 33548083 | 2021 | Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells. | 1 |
| 34339558 | 2021 | SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation. | 7 |
Citation
Dessen P
SHARPIN (SHANK associated RH domain interactor)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51680/sharpin
