1. Gene
  2. STARD4 - StAR related lipid transfer domain containing 4 Gene

STARD4 - StAR related lipid transfer domain containing 4 Gene

中文名称:含 StAR 相关脂质转移结构域 4

种属: Homo sapiens

基因 ID: 134429 | 基因类型: protein coding

关于 STARD4

Cytogenetic location: 5q22.1 Genomic coordinates (GRCh38): 5:111,496,033-111,512,535 (from NCBI)

This gene has 12 transcripts (splice variants), 162 orthologues and 5 paralogues. Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 9.3) and 22 other tissues.

功能概要

胆固醇稳态至少部分受甾醇调节元件 (SRE) 结合蛋白 (例如 SREBP1;MIM 184756) 和肝脏 X 受体 (例如 LXRA;MIM 602423) 的调节。甾醇耗尽后,LXR 失活并且 SREBP 被切割,之后它们结合启动子 SRE 并激活参与胆固醇生物合成和摄取的基因。甾醇转运由囊泡或可溶性蛋白载体介导,例如类固醇生成急性调节蛋白 (STAR; MIM 600617) 。 STAR 与包含 200 至 210 个氨基酸的 STAR 相关脂质转移 (START) 结构域的蛋白质家族同源,包括 STARD4 (Soccio 等人,2002 [PubMed 12011452]) 。[OMIM 提供,2008 年 3 月]

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in Cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD4 基因产物(7)

mRNA Protein Name
NM_001308056.2 NP_001294985.1 stAR-related lipid transfer protein 4 isoform a
NM_001308057.2 NP_001294986.1 stAR-related lipid transfer protein 4 isoform b
NM_001308058.2 NP_001294987.1 stAR-related lipid transfer protein 4 isoform b
NM_001308059.2 NP_001294988.1 stAR-related lipid transfer protein 4 isoform c
NM_001308060.2 NP_001294989.1 stAR-related lipid transfer protein 4 isoform d
NM_001308061.2 NP_001294990.1 stAR-related lipid transfer protein 4 isoform c
NM_139164.3 NP_631903.1 stAR-related lipid transfer protein 4 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
18403318 GOA
enables cholesterol transfer activity IDA
IDA: 通过直接分析推断
18403318 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol import IDA
IDA: 通过直接分析推断
18403318 GOA
involved in cholesterol transport involved in cholesterol storage IDA
IDA: 通过直接分析推断
18403318 GOA
involved in intracellular cholesterol transport IDA
IDA: 通过直接分析推断
18403318 GOA
involved in positive regulation of bile acid biosynthetic process IDA
IDA: 通过直接分析推断
18403318 GOA
involved in positive regulation of cholesterol metabolic process IDA
IDA: 通过直接分析推断
18403318 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21767660 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
21767660 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

STARD4 蛋白结构

START

START: START domain (14 - 204)

  • 0
  • 100
  • 205 a.a.
蛋白主名 其他名称

stAR-related lipid transfer protein 4

START domain containing 4, sterol regulated

STARD4 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
STARD4 Q96DR4 CCHCR1 Homo sapiens Q8TD31-3
Y2H Prey Pooling
32296183
种属内
STARD4 Q96DR4 CCHCR1 Homo sapiens Q8TD31-3
Y2H Array
32296183
种属内
STARD4 Q96DR4 GDAP1 Homo sapiens Q8TB36
Y2H Prey Pooling
32296183
种属内
STARD4 Q96DR4 GDAP1 Homo sapiens Q8TB36
Y2H Array
32296183
种属内
STARD4 Q96DR4 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
种属内
STARD4 Q96DR4 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
种属内
STARD4 Q96DR4 MTIF3 Homo sapiens Q9H2K0
Y2H Prey Pooling
32296183
种属内
STARD4 Q96DR4 MTIF3 Homo sapiens Q9H2K0
Validated Y2H
32296183
种属内
STARD4 Q96DR4 MTIF3 Homo sapiens Q9H2K0
Y2H Array
32296183
种属内
STARD4 Q96DR4 ARL6IP1 Homo sapiens Q15041
Y2H Array
32296183
种属内
STARD4 Q96DR4 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
32296183
种属内
STARD4 Q96DR4 SYP Homo sapiens P08247
Y2H Array
32296183
种属内
STARD4 Q96DR4 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
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
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
Felis catus STARD4 VGNC VGNC:102336
Canis familiaris STARD4 VGNC VGNC:46884
Macaca mulatta STARD4 VGNC VGNC:77947
Rattus norvegicus STARD4 RGD RGD:1309475
Mus musculus STARD4 MGD MGI:2156764
Bos taurus STARD4 VGNC VGNC:35365