1. Gene
  2. OSBP - oxysterol binding protein Gene

OSBP - oxysterol binding protein Gene

中文名称:氧固醇结合蛋白

种属: Homo sapiens

同用名: OSBP1

基因 ID: 5007 | 基因类型: protein coding

关于 OSBP

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,574,398-59,615,774 (from NCBI)

This gene has 3 transcripts (splice variants), 255 orthologues and 11 paralogues. Ubiquitous expression in adrenal (RPKM 22.9), kidney (RPKM 22.7) and 25 other tissues.

功能概要

氧甾醇结合蛋白是一种细胞内蛋白,据信可将甾醇从溶酶体转运至细胞核,在细胞核中甾醇会下调 LDL 受体、HMG-CoA 还原酶和 HMG 合成酶的基因[RefSeq 提供,2008 年 7 月]

Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]

OSBP 基因产物(1)

mRNA Protein Name
NM_002556.3 NP_002547.1 oxysterol-binding protein 1

OSBP 蛋白结构

PH

PH: PH domain (91 - 178)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (418 - 793)

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

oxysterol-binding protein 1

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67

Nonparalytic Poliomyelitis

Acute Nonparalytic Poliomyelitis

Non-Paralytic Aseptic Meningitis

Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8

ALS8

Sclerosis, Lateral, Amyotrophic, Type Type 8

Acute Flaccid Myelitis
Acute Hemorrhagic Conjunctivitis

Viral Conjunctivitis

Conjunctivitis, Acute Hemorrhagic

Apollo Disease

Epidemic Hemorrhagic Conjunctivitis

Viral Conjunctiva Disorder

Viral Conjunctivitis Nos

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
Bos taurus OSBP VGNC VGNC:32456
Canis familiaris OSBP VGNC VGNC:44149
Rattus norvegicus OSBP RGD RGD:1308069
Felis catus OSBP VGNC VGNC:68656
Mus musculus OSBP MGD MGI:97447
Macaca mulatta OSBP VGNC VGNC:75718