2. Gene
  3. ARV1 - ARV1 homolog, fatty acid homeostasis modulator Gene

ARV1 - ARV1 homolog, fatty acid homeostasis modulator Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：ARV1 同系物，脂肪酸稳态调节因子

种属: Homo sapiens

同用名: DEE38; EIEE38

基因 ID: 64801 | 基因类型: protein coding

关于 ARV1

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:230,979,094-231,000,733 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 10.7) and 25 other tissues.

功能概要

该基因编码一种跨膜蛋白，该蛋白在 N 端包含一个保守的锌带基序。小鼠中的一种类似蛋白质被认为在脂肪酸稳态中起作用。该基因的突变与早期婴儿癫痫性脑病 38 有关。[RefSeq 提供，2016 年 11 月]

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

ARV1 基因产物(2)

mRNA Protein Name
NM_001346992.2 NP_001333921.1 protein ARV1 isoform 1
NM_022786.3 NP_073623.1 protein ARV1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cholesterol transport IDA
IDA: 通过直接分析推断
20663892 GOA
involved in regulation of cholesterol metabolic process IMP
IMP: 通过突变表型推断
20663892 GOA
involved in regulation of intracellular cholesterol transport IMP
IMP: 通过突变表型推断
20663892 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
20663892 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

ARV1 蛋白结构

Arv1

Arv1: Arv1-like family (33 - 223)

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

protein ARV1

ARV1 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
Intra ARV1 Q9H2C2 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
Intra ARV1 Q9H2C2 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra ARV1 Q9H2C2 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Validated Y2H
32296183
Intra ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Y2H Array
32296183
Intra ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 MUC1 Homo sapiens P15941-11
Y2H Array
32296183
Intra ARV1 Q9H2C2 MUC1 Homo sapiens P15941-11
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 SLC10A6 Homo sapiens Q3KNW5
Y2H Array
32296183
Intra ARV1 Q9H2C2 SLC10A6 Homo sapiens Q3KNW5
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra ARV1 Q9H2C2 RNASEK Homo sapiens Q6P5S7
Y2H Array
32296183
Intra ARV1 Q9H2C2 RNASEK Homo sapiens Q6P5S7
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 EBP Homo sapiens Q15125
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 EBP Homo sapiens Q15125
Y2H Array
32296183
Intra ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Y2H Array
32296183
Intra ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra ARV1 Q9H2C2 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Y2H Array
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
Developmental And Epileptic Encephalopathy 38

DEE38

Epileptic Encephalopathy, Early Infantile, 38

Eiee38

Developmental And Epileptic Encephalopathy, 38

Glycosylphosphatidylinositol Biosynthesis Defect 23

Gpibd23

Early Infantile Epileptic Encephalopathy 38
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Developmental And Epileptic Encephalopathy 26

DEE26

Epileptic Encephalopathy, Early Infantile, 26

Eiee26

Early Infantile Epileptic Encephalopathy 26

Developmental And Epileptic Encephalopathy, 26

Encephalopathy, Epileptic, Early Infantile, Type 26
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Epilepsy, Idiopathic Generalized 14

EIG14

Epilepsy, Idiopathic Generalized, Susceptibility To, 14

Idiopathic Generalized Epilepsy 14

{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Castration-Resistant Prostate Carcinoma

Prostatic Neoplasms, Castration-Resistant
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P5213 Vasopressin Dimer (parallel) (TFA) Activator 99.55% 否
HY-P5214 Vasopressin Dimer (anti-parallel) (TFA) Activator / 否
HY-RS01049 ARV1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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