MIA2 Q96PC5

黑色素瘤抑制活性蛋白2 (MIA蛋白2) (CTAGE家族成员5 ER输出因子) (皮肤T细胞淋巴瘤相关抗原5) (脑膜瘤表达抗原6/11)

功能描述

在对于体积过大而无法进入COPII包被囊泡的货物的运输中发挥作用，这些货物需要特定的机制才能被整合到膜结合载体中并从内质网输出 (PubMed:21525241, PubMed:25202031, PubMed:27138255, PubMed:27170179)。通过参与脂蛋白、前乳糜微粒和前极低密度脂蛋白从内质网的输出，在它们的分泌中发挥作用 (PubMed:27138255)。因此，可能在胆固醇和甘油三酯稳态中发挥作用 (By similarity)。胶原蛋白VII (COL7A1) 分泌所必需的，通过将COL7A1装载到运输载体中并在内质网出口位点招募PREB/SEC12来实现 (PubMed:21525241, PubMed:25202031, PubMed:27170179)。 {ECO:0000250|UniProtKB:Q91ZV0, ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:27138255, ECO:0000269|PubMed:27170179}。

组织特异性

Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon, pancreas, kidney, liver and prostate (PubMed:27138255). Isoform 8 is expressed only in testis (at the protein level). Isoform 8 (at protein level) and isoform 9 are expressed in cutaneous T-cell lymphoma (CTCL) cell lines, colorectal carcinomas, breast carcinomas and melanoma. Isoform 9, but not isoform 5A, is expressed in head and neck squamous cell carcinoma (PubMed:12839582).

亚细胞定位

Endoplasmic reticulum membrane