1. Gene
  2. STARD5 - StAR related lipid transfer domain containing 5 Gene

STARD5 - StAR related lipid transfer domain containing 5 Gene

中文名称:含 StAR 相关脂质转移结构域 5

种属: Homo sapiens

基因 ID: 80765 | 基因类型: protein coding

关于 STARD5

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:81,309,053-81,324,141 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 22.1), spleen (RPKM 14.8) and 23 other tissues.

功能概要

含有类固醇生成急性调节相关脂质转移 (START) 结构域的蛋白质通常参与不同细胞内膜之间的脂质和胆固醇运输。该基因是编码 START 相关脂质转移蛋白的 StarD 亚家族的成员。该基因编码的蛋白质是一种胆固醇转运蛋白,还能够结合和转运其他与胆固醇/胆汁酸生物合成途径相关的甾醇衍生分子,例如 25-羟基胆固醇。其表达在内质网 (ER) 应激期间上调。该蛋白质被认为充当细胞溶质甾醇转运蛋白,可在细胞内膜之间移动胆固醇,例如从细胞质到 ER 以及从 ER 到高尔基体。该基因的可变剪接产生多个转录本变体。[RefSeq 提供,2016 年 1 月]

Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and Cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a Cholesterol transporter and is also able to bind and transport Other sterol-derived molecules related to the Cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves Cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]

STARD5 基因产物(1)

mRNA Protein Name
NM_181900.3 NP_871629.1 stAR-related lipid transfer protein 5

STARD5 蛋白结构

START

START: START domain (9 - 211)

  • 0
  • 100
  • 200
  • 213 a.a.
蛋白主名 其他名称

stAR-related lipid transfer protein 5

START domain containing 5

关联疾病

疾病名称 别名
Blount'S Disease

Blount Disease

Tibia Vara

Osteochondrosis Deformans Tibiae

Osteochondrosis Deformans Tibiae, Familial Infantile Type

Familial Infantile Type Osteochondrosis Deformans Tibiae

Blount-Barber Syndrome

Erlacher-Blount Syndrome

Infantile Tibia Vara

Tibia Vara Blount

Blount Disease, Infantile

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

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
Mus musculus STARD5 MGD MGI:2156765
Macaca mulatta STARD5 VGNC VGNC:77949
Felis catus STARD5 VGNC VGNC:65755
Rattus norvegicus STARD5 RGD RGD:1561783
Canis familiaris STARD5 VGNC VGNC:46885
Bos taurus STARD5 VGNC VGNC:35366