1. Gene
  2. OSBPL5 - oxysterol binding protein like 5 Gene

OSBPL5 - oxysterol binding protein like 5 Gene

中文名称:氧固醇结合蛋白样 5

种属: Homo sapiens

同用名: ORP5; OBPH1

基因 ID: 114879 | 基因类型: protein coding

关于 OSBPL5

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,087,107-3,165,310 (from NCBI)

This gene has 19 transcripts (splice variants), 196 orthologues and 11 paralogues. Ubiquitous expression in spleen (RPKM 7.8), endometrium (RPKM 5.8) and 24 other tissues.

功能概要

该基因编码氧固醇结合蛋白 (OSBP) 家族的一个成员,该家族是一组细胞内脂质受体,在维持体内胆固醇平衡方面发挥着关键作用。大多数成员包含一个 N 端 pleckstrin 同源结构域和一个高度保守的 C 端 OSBP 样甾醇结合结构域。该基因已被证明是印记的,仅在胎盘中优先表达母体等位基因。已经鉴定出编码不同亚型的转录变体。[RefSeq 提供,2010 年 10 月]

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of Cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

OSBPL5 基因产物(3)

mRNA Protein Name
NM_001144063.2 NP_001137535.1 oxysterol-binding protein-related protein 5 isoform b
NM_020896.4 NP_065947.1 oxysterol-binding protein-related protein 5 isoform a
NM_145638.3 NP_663613.1 oxysterol-binding protein-related protein 5 isoform b
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
23934110 GOA
enables phosphatidylserine transfer activity IDA
IDA: 通过直接分析推断
26206935 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
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 endoplasmic reticulum-plasma membrane contact site 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

OSBPL5 蛋白结构

PH

PH: PH domain (129 - 242)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (371 - 711)

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

oxysterol-binding protein-related protein 5

ORP-5

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

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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
Macaca mulatta OSBPL5 VGNC VGNC:75628
Felis catus OSBPL5 VGNC VGNC:63980
Rattus norvegicus OSBPL5 RGD RGD:1308402
Mus musculus OSBPL5 MGD MGI:1930265
Bos taurus OSBPL5 VGNC VGNC:32463
Canis familiaris OSBPL5 VGNC VGNC:58324