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: 9051
MIM: 606347
HGNC: 9580
Ensembl: ENSG00000140368
Variants:
dbSNP: 9051
ClinVar: 9051
TCGA: ENSG00000140368
COSMIC: PSTPIP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36692132 | 2023 | Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype. | 0 |
| 37013170 | 2023 | Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. | 0 |
| 37628706 | 2023 | PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review. | 0 |
| 36692132 | 2023 | Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype. | 0 |
| 37013170 | 2023 | Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. | 0 |
| 37628706 | 2023 | PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review. | 0 |
| 34492165 | 2022 | Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1. | 12 |
| 34767928 | 2022 | A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells. | 3 |
| 36203570 | 2022 | Strong inflammatory signatures in the neutrophils of PAMI syndrome. | 6 |
| 34492165 | 2022 | Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1. | 12 |
| 34767928 | 2022 | A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells. | 3 |
| 36203570 | 2022 | Strong inflammatory signatures in the neutrophils of PAMI syndrome. | 6 |
| 33218716 | 2021 | Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. | 7 |
| 33338535 | 2021 | HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. | 8 |
| 33458872 | 2021 | Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review. | 4 |
Citation
Dessen P
PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-04-01
Online version: http://atlasgeneticsoncology.org/gene/56759/pstpip1-(proline-serine-threonine-phosphatase-interacting-protein-1)
