1. Gene
  2. OSBPL8 - oxysterol binding protein like 8 Gene

OSBPL8 - oxysterol binding protein like 8 Gene

中文名称:氧固醇结合蛋白 8

种属: Homo sapiens

同用名: ORP8; MST120; OSBP10; MSTP120

基因 ID: 114882 | 基因类型: protein coding

关于 OSBPL8

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:76,351,797-76,559,771 (from NCBI)

This gene has 18 transcripts (splice variants), 214 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues.

功能概要

该基因编码一个蛋白质家族的成员,该蛋白质家族包含一个 N 末端 pleckstrin 同源结构域和一个高度保守的 C 末端氧固醇结合蛋白样固醇结合结构域。它结合多种含脂质分子,包括磷脂酰丝氨酸、磷脂酰肌醇 4-磷酸 (PI4P) 和氧固醇,并促进它们在内质网和质膜之间的交换。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OSBPL8 基因产物(5)

mRNA Protein Name
NM_001003712.2 NP_001003712.1 oxysterol-binding protein-related protein 8 isoform b
NM_001319652.2 NP_001306581.1 oxysterol-binding protein-related protein 8 isoform b
NM_001319653.2 NP_001306582.1 oxysterol-binding protein-related protein 8 isoform c
NM_001319655.2 NP_001306584.1 oxysterol-binding protein-related protein 8 isoform d
NM_020841.5 NP_065892.1 oxysterol-binding protein-related protein 8 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cholesterol binding IDA
IDA: 通过直接分析推断
17428193 GOA
enables phosphatidylinositol-4-phosphate binding IDA
IDA: 通过直接分析推断
26206935 GOA
enables phosphatidylserine binding IDA
IDA: 通过直接分析推断
26206935 GOA
enables phosphatidylserine transfer activity IDA
IDA: 通过直接分析推断
26206935 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24424245 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fat cell differentiation IDA
IDA: 通过直接分析推断
23028956 GOA
involved in negative regulation of sequestering of triglyceride IDA
IDA: 通过直接分析推断
23028956 GOA
involved in phospholipid transport IDA
IDA: 通过直接分析推断
26206935 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cortical endoplasmic reticulum IDA
IDA: 通过直接分析推断
26206935 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
26206935 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OSBPL8 蛋白结构

PH

PH: PH domain (150 - 264)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (407 - 748)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 889 a.a.
蛋白主名 其他名称

oxysterol-binding protein-related protein 8

OSBP-related protein 8

OSBPL8 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
OSBPL8 Q9BZF1 SPAG5 Homo sapiens Q96R06
Y2H
24424245
种属内
OSBPL8 Q9BZF1 SPAG5 Homo sapiens Q96R06 24424245
种属内
OSBPL8 Q9BZF1 SPAG5 Homo sapiens Q96R06 24424245
种属内
OSBPL8 Q9BZF1 SPAG5 Homo sapiens Q96R06 24424245
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris OSBPL8 VGNC VGNC:44158
Felis catus OSBPL8 VGNC VGNC:63983
Rattus norvegicus OSBPL8 RGD RGD:1561474
Macaca mulatta OSBPL8 VGNC VGNC:75630
Bos taurus OSBPL8 VGNC VGNC:32466
Mus musculus OSBPL8 MGD MGI:2443807