1. Gene
  2. OSBPL9 - oxysterol binding protein like 9 Gene

OSBPL9 - oxysterol binding protein like 9 Gene

中文名称:氧固醇结合蛋白 9

种属: Homo sapiens

同用名: ORP9; ORP-9

基因 ID: 114883 | 基因类型: protein coding

关于 OSBPL9

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:51,617,092-51,789,219 (from NCBI)

This gene has 27 transcripts (splice variants), 220 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 20.1), thyroid (RPKM 18.0) and 25 other tissues.

功能概要

该基因编码氧固醇结合蛋白 (OSBP) 家族的成员,该家族是一组细胞内脂质受体。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,尽管一些成员仅包含甾醇结合结构域。该家族成员的功能是调节高尔基体结构和功能的胆固醇转移蛋白。已经确定了多个转录本变体,其中大部分编码不同的亚型。已在 3、11 和 12 号染色体上鉴定出相关的假基因。[RefSeq 提供,2010 年 7 月]

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a Cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]

OSBPL9 基因产物(11)

mRNA Protein Name
NM_001330580.2 NP_001317509.1 oxysterol-binding protein-related protein 9 isoform g
NM_001350208.2 NP_001337137.1 oxysterol-binding protein-related protein 9 isoform h
NM_001350209.2 NP_001337138.1 oxysterol-binding protein-related protein 9 isoform h
NM_001350210.2 NP_001337139.1 oxysterol-binding protein-related protein 9 isoform i
NM_024586.6 NP_078862.4 oxysterol-binding protein-related protein 9 isoform e
NM_148904.4 NP_683702.1 oxysterol-binding protein-related protein 9 isoform a
NM_148905.4 NP_683703.1 oxysterol-binding protein-related protein 9 isoform a
NM_148906.3 NP_683704.2 oxysterol-binding protein-related protein 9 isoform b
NM_148907.3 NP_683705.1 oxysterol-binding protein-related protein 9 isoform c
NM_148908.4 NP_683706.3 oxysterol-binding protein-related protein 9 isoform d
NM_148909.4 NP_683707.3 oxysterol-binding protein-related protein 9 isoform f

OSBPL9 蛋白结构

PH

PH: PH domain (4 - 97)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (375 - 717)

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

oxysterol-binding protein-related protein 9

OSBP-related protein 9

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
Felis catus OSBPL9 VGNC VGNC:63984
Canis familiaris OSBPL9 VGNC VGNC:44159
Bos taurus OSBPL9 VGNC VGNC:32467
Rattus norvegicus OSBPL9 RGD RGD:1311508
Mus musculus OSBPL9 MGD MGI:1923784
Macaca mulatta OSBPL9 VGNC VGNC:75625