MEFV O15553

Pyrin (Marenostrin)

功能描述

参与响应IFNG/IFN-gamma的先天免疫调节和炎症反应 (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:26347139, PubMed:27030597, PubMed:28835462)。通过作为ULK1、Beclin 1/BECN1、ATG16L1和ATG8家族成员组装的平台来组织自噬机制，并识别特定的自噬靶标，从而协调靶标识别与自噬装置的组装及自噬的启动 (PubMed:16785446, PubMed:17431422, PubMed:26347139)。作为自噬受体参与几种炎症小体组分的降解，包括CASP1、NLRP1和NLRP3，从而防止过度的IL1B和IL18介导的炎症 (PubMed:16785446, PubMed:17431422, PubMed:26347139)。然而，它在炎症通路中也可能发挥积极作用，作为先天免疫传感器触发PYCARD/ASC斑点形成、caspase-1激活以及IL1B和IL18的产生 (PubMed:16037825, PubMed:27030597, PubMed:28835462)。与AIM2一起，还作为细胞焦亡、坏死性凋亡和凋亡（PANoptosis）的介质，这是宿主防御病原体的重要组成部分，响应细菌感染 (By similarity)。它是PSTPIP1诱导的PYCARD/ASC寡聚化和炎症小体形成所必需的 (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923)。将PSTPIP1募集到炎症小体，并且是PSTPIP1寡聚化所必需的 (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923)。 {ECO:0000250|UniProtKB:Q9JJ26, ECO:0000269|PubMed:10807793, ECO:0000269|PubMed:11468188, ECO:0000269|PubMed:16037825, ECO:0000269|PubMed:16785446, ECO:0000269|PubMed:17431422, ECO:0000269|PubMed:17964261, ECO:0000269|PubMed:18577712, ECO:0000269|PubMed:19109554, ECO:0000269|PubMed:19584923, ECO:0000269|PubMed:26347139, ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:28835462}.

组织特异性

Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines.

亚细胞定位

[Isoform 1]: Cytoplasm, cytoskeleton