2024年12月25日 · PSTPIP1 (Proline-Serine-Threonine Phosphatase Interacting Protein 1) is a Protein Coding gene. Diseases associated with PSTPIP1 include Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne and Hyperzincemia And Hypercalprotectinemia. Among its related pathways are Inflammasomes and Infectious disease.

Proline-serine-threonine phosphatase-interacting protein 1 is an enzyme that in humans is encoded by the PSTPIP1 gene. [5][6]

该基因编码一种在造血组织中高度表达的细胞骨架蛋白。 这种蛋白质通过与参与细胞骨架组织和炎症过程的几种不同蛋白质的相互作用发挥作用。 它与 CD2 的细胞质尾部结合， CD2 是 T 细胞活化和粘附的效应子，下调 CD2 触发的粘附。 它结合 PEST 型蛋白酪氨酸磷酸酶 (PTP) 并将其引导至 c-Abl 激酶以介导 c-Abl 去磷酸化，从而调节 c-Abl 活性。 它还与 pyrin 相互作用，pyrin 被发现与骨髓/单核细胞中的细胞骨架相关并调节免疫调节功能。 该基因的突变与 PAPA (化脓性无菌 …

Case Report: missense mutation in PSTPIP1, the gene responsible for PAPA syndrome. we have shown that PSTPIP1 regulates T-cell activation upon CD3 and CD28 stimulation, independently of CD2 costimulation. PSTPIP1 acts downstream of proximal TCR signaling, inhibiting several transcription factors.

PSTPIP1 is a regulatory phosphatase that modulates T-cell and phagocyte activation, cytoskeletal organization, and IL1 (see 147760) production (summary by Mejbri et al., 2023). Spencer et al. (1997) identified mouse Pstpip1 as a binding protein of the PEST-type protein tyrosine phosphatases (PTPs, e.g., PTP-PEST; 600079).

Background: Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) is a cytosolic adaptor protein involved with T-cell activation, differentiation, and migration. On cognate T-cell contact, PSTPIP1 is recruited to surface-expressed CD2, where it regulates F-actin remodeling.

2025年2月9日 · Clinical resource with information about PSTPIP1, Hyperzincemia with functional zinc depletion, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2025年1月4日 · Gene target information for PSTPIP1 - proline-serine-threonine phosphatase interacting protein 1 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) is a cytosolic adaptor protein involved with T-cell activation, differentiation, and migration. On cognate T-cell contact, PSTPIP1 is recruited to surface-expressed CD2, where it regulates F-actin remodeling.

Pathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is sometimes challenging, we discuss the genotype-phenotype association in PSTPIP1-associated …