VPS13B Q7Z7G8

膜间隙脂质转运蛋白 VPS13B (Cohen综合征蛋白1) (液泡蛋白分选相关蛋白13B)

功能描述

在细胞器接触位点介导膜之间的脂质转移 (By similarity)。结合磷脂酰肌醇3-磷酸 (By similarity)。在慢速内体循环途径中作为系留因子发挥作用，协助早期内体和循环内体之间的运输 (PubMed:24334764, PubMed:30962439, PubMed:32375900)。参与精子细胞发育过程中前顶体囊泡向核致密层 (NDL) 的运输 (By similarity)。在高尔基体组装中发挥作用，可能通过介导向高尔基体膜的运输 (PubMed:21865173)。在神经系统发育中发挥作用，可能为神经元突起发育所必需 (PubMed:25492866, PubMed:32560273)。也可能在脂肪组织发育过程中发挥作用 (PubMed:26358774)。眼晶状体的维持所必需 (By similarity)。 {ECO:0000250|UniProtKB:Q07878, ECO:0000250|UniProtKB:Q80TY5, ECO:0000269|PubMed:21865173, ECO:0000269|PubMed:24334764, ECO:0000269|PubMed:26358774, ECO:0000269|PubMed:30962439, ECO:0000269|PubMed:32375900, ECO:0000269|PubMed:32560273, ECO:0000305|PubMed:25492866, ECO:0000305|PubMed:32560273}.

组织特异性

Widely expressed (PubMed:12730828). There is apparent differential expression of different transcripts (PubMed:12730828, PubMed:19006247). In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified (PubMed:12730828). These transcripts are also seen in all adult tissues analyzed (PubMed:12730828). A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult (PubMed:12730828). Expression is very low in adult brain tissue (PubMed:12730828). Expressed in peripheral blood lymphocytes (PubMed:33025479). Isoform 1 and isoform 2 are expressed in brain and retina (PubMed:12730828, PubMed:19006247). Isoform 2 is expressed ubiquitously (PubMed:12730828, PubMed:19006247).

亚细胞定位

Recycling endosome membrane