2. Gene
  3. CAVIN1 - caveolae associated protein 1 Gene

CAVIN1 - caveolae associated protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞膜穴样内陷相关蛋白 1

种属: Homo sapiens

同用名: CGL4; PTRF; CAVIN; FKSG13; cavin-1

基因 ID: 284119 | 基因类型: protein coding

关于 CAVIN1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,402,449-42,423,256 (from NCBI)

This gene has 1 transcript (splice variant), 271 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 182.5), lung (RPKM 83.2) and 21 other tissues.

功能概要

该基因编码的蛋白质能够使暂停的三元聚合酶 I 转录复合物从 pre-rRNA 转录物的 3' 端解离。该蛋白通过促进转录复合物的解离和聚合酶 I 在新生 rRNA 转录本上的重新启动来调节 rRNA 转录。这种蛋白质也定位于质膜上的细胞膜穴样内陷，并被认为在细胞膜穴样内陷的形成和细胞膜穴样内陷的稳定化中发挥关键作用。这种蛋白质在胰岛素刺激后从细胞膜穴样内陷转移到细胞质。小窝含有这种蛋白质的截短形式，可能是磷酸化依赖性蛋白水解的位点。这种蛋白质也被认为可以改变脂质代谢和胰岛素调节的基因表达。该基因的突变导致以全身性脂肪营养不良和肌肉营养不良为特征的疾病。[RefSeq 提供，2009 年 11 月]

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after Insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

CAVIN1 基因产物(1)

mRNA Protein Name
NM_012232.6 NP_036364.2 caveolae-associated protein 1
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 identical protein binding IPI
IPI: 通过物理相互作用推断
24013648 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17026959 GOA
enables rRNA primary transcript binding IDA
IDA: 通过直接分析推断
9582279 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in termination of RNA polymerase I transcription IDA
IDA: 通过直接分析推断
9582279 GOA
involved in transcription initiation at RNA polymerase I promoter IDA
IDA: 通过直接分析推断
9582279 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in caveola IDA
IDA: 通过直接分析推断
17026959 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17026959 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
25204797 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
15242332 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15242332 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
24013648 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

CAVIN1 蛋白结构

PTRF_SDPR

PTRF_SDPR: PTRF/SDPR family (48 - 321)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
蛋白主名 其他名称

caveolae-associated protein 1

RNA polymerase I and transcript release factor

CAVIN1 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 CAVIN1 Q6NZI2 ZSCAN21 Homo sapiens Q9Y5A6
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 YAF2 Homo sapiens Q8IY57-5
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 MRPL45 Homo sapiens Q9BRJ2
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 ZFP1 Homo sapiens Q6P2D0
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 FBXO28 Homo sapiens Q9NVF7
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 CAVIN3 Homo sapiens Q969G5
Anti Tag CoIP
24013648
Intra CAVIN1 Q6NZI2 CAVIN3 Homo sapiens Q969G5
Anti Tag CoIP
33961781
Intra CAVIN1 Q6NZI2 CAVIN1 Homo sapiens Q6NZI2
Anti Tag CoIP
24013648
Intra CAVIN1 Q6NZI2 CAVIN3 Homo sapiens Q969G5
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 FBXO28 Homo sapiens Q9NVF7
Anti Tag CoIP
33961781
Intra CAVIN1 Q6NZI2 FBXO28 Homo sapiens Q9NVF7
Anti Tag CoIP
28514442
Intra CAVIN1 Q6NZI2 CAVIN1 Homo sapiens Q6NZI2
Y2H Prey Pooling
32296183
Intra CAVIN1 Q6NZI2 CAV3 Homo sapiens P56539
Anti Tag CoIP
19726876
Intra CAVIN1 Q6NZI2 KAT5 Homo sapiens Q92993
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 CDCA7L Homo sapiens Q96GN5
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 ZCCHC10 Homo sapiens Q8TBK6
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 CAV1 Homo sapiens Q03135
Anti Tag CoIP
19726876
Intra CAVIN1 Q6NZI2 CAV1 Homo sapiens Q03135
Anti Tag CoIP
24013648
Intra CAVIN1 Q6NZI2 INO80B Homo sapiens Q9C086
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 CAVIN2 Homo sapiens O95810
Anti Tag CoIP
24013648
Intra CAVIN1 Q6NZI2 TNFAIP8L1 Homo sapiens Q8WVP5
Validated Y2H
32296183
Intra CAVIN1 Q6NZI2 TTC5 Homo sapiens Q8N0Z6
Validated Y2H
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
Lipodystrophy, Congenital Generalized, Type 4

Congenital Generalized Lipodystrophy Type 4

CGL4

Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy

Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy

Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy

Generalized Congenital Lipodystrophy With Myopathy

Congenital Generalised Lipodystrophy Type 4

Generalised Congenital Lipodystrophy Type 4

Generalised Congenital Lipodystrophy With Myopathy

Generalized Congenital Lipodystrophy Type 4

Gcl4

Congenital Generalized Lipodystrophy 4

Berardinelli-Seip Congenital Lipodystrophy Type 4
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Complete Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3

CGL3

Bscl3

Berardinelli-Seip Congenital Lipodystrophy Type 3

Berardinelli-Seip Congenital Lipodystrophy, Type 3

Lipodystrophy, Berardinelli-Seip Congenital, Type 3

Type 3 Berardinelli-Seip Congenital Lipodystrophy

Congenital Generalized Lipodystrophy 3
Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Familial Partial, Type 2

FPLD2

Lipoatrophic Diabetes

Familial Partial Lipodystrophy Type 2

Familial Partial Lipodystrophy, Dunnigan Type

Fpl2

Lipoatrophic Diabetes Mellitus

Lipodystrophy, Familial Partial, Dunnigan Type

Lipodystrophy, Familial, Of Limbs And Lower Trunk

Lipodystrophy, Reverse Partial

Familial Partial Lipodystrophy Dunnigan Type

Dunnigan Syndrome

Familial Lipodystrophy Of Limbs And Lower Trunk

Reverse Partial Lipodystrophy

Lipodystrophy, Familial Partial, 2

Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules

Lipodystrophy Familial Of Limbs And Lower Trunk

Lipodystrophy Reverse Partial

Diabetes Mellitus, Lipoatrophic

Familial Partial Lipodystrophy, Type 2

Familial Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 1

Congenital Generalized Lipodystrophy Type 1

Bscl1

CGL1

Berardinelli-Seip Congenital Lipodystrophy, Type 1

Brunzell Syndrome Agpat2-Related

Berardinelli-Seip Congenital Lipodystrophy Type 1

Lipodystrophy, Berardinelli-Seip Congenital, Type 1

Brunzell Syndrome, Agpat2-Related

Agpat2-Related Brunzell Syndrome

Congenital Generalized Lipodystrophy 1

Berardinelli-Seip Syndrome

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Total Lipodystrophy And Acromegaloid Gigantism

Lipodystrophy, Generalized, Congenital, Type 1

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2
Acquired Generalized Lipodystrophy

Lawrence Syndrome

Acquired Lipoatrophic Diabetes

Lawrence-Seip Syndrome

Familial Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 4

FPLD4

Plin1-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 4

Familial Partial Lipodystrophy Associated With Plin1 Mutations

Plin1-Related Fpld

Lipodystrophy, Familial Partial, Associated With Plin1 Mutations

Lipodystrophy, Familial Partial, 4
Lipodystrophy, Familial Partial, Type 1

FPLD1

Familial Partial Lipodystrophy Type 1

Familial Partial Lipodystrophy, Kobberling Type

Lipodystrophy, Familial Partial, Kobberling Type

Familial Partial Lipodystrophy Kobberling Type

Familial Partial Lipodystrophy Type Köbberling

Familial Partial Lipodystrophy, Köbberling Type

Familial Partial Lipodystrophy, Type 1
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome
Hypertrophic Pyloric Stenosis

Congenital Hypertrophic Pyloric Stenosis

Pyloric Stenosis, Hypertrophic

Congenital Or Infantile Stricture Of Pylorus

Achalasia Of The Pylorus

Congenital Hypertrophy Of The Pylorus

Infantile Hypertrophy Of The Pylorus

Infantile Constriction Of The Pylorus

Congenital Stenosis Of The Pylorus

Congenital Constriction Of The Pylorus

Congenital Stricture Of The Pylorus

Infantile Hypertrophic Pyloric Stenosis

Infantile Stenosis Of The Pylorus

Infantile Stricture Of The Pylorus

Congenital Or Infantile Constriction Of Pylorus

Infantile Pyloric Obstruction

Infantile Pyloric Hypertrophy

Pylorus Achalasia

Pyloric Constriction

Infantile Pyloric Stricture

Infantile Pyloric Stenosis

Congenital Spasm Of Pylorus

Congenital Pylorospasm

Congenital Pyloric Stricture

Congenital Pyloric Spasm

Congenital Or Infantile Spasm Of Pylorus

Congenital Or Infantile Obstruction Of Pylorus

Congenital Pyloric Stenosis
Lipodystrophy, Familial Partial, Type 3

FPLD3

Pparg-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 3

Familial Partial Lipodystrophy Associated With Pparg Mutations

Pparg-Related Fpld

Lipodystrophy, Familial Partial, Associated With Pparg Mutations

Insulin Resistance, Severe, Digenic

Lipodystrophy, Familial Partial, 3

Familial Partial Lipodystrophy, Type 3
Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01989 CAVIN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CAVIN1 MGD MGI:1277968
Canis familiaris CAVIN1 VGNC VGNC:38754
Rattus norvegicus CAVIN1 RGD RGD:1307685
Macaca mulatta CAVIN1 VGNC VGNC:104591
Bos taurus CAVIN1 VGNC VGNC:26802
Felis catus CAVIN1 VGNC VGNC:98771
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