1. Gene
  2. SAV1 - salvador family WW domain containing protein 1 Gene

SAV1 - salvador family WW domain containing protein 1 Gene

中文名称:含萨尔瓦多家族 WW 结构域的蛋白 1

种属: Homo sapiens

同用名: SAV; WW45; WWP4

基因 ID: 60485 | 基因类型: protein coding

关于 SAV1

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,633,580-50,668,306 (from NCBI)

This gene has 6 transcripts (splice variants), 210 orthologues and 6 paralogues. Ubiquitous expression in thyroid (RPKM 16.7), testis (RPKM 15.2) and 25 other tissues.

功能概要

含有 WW 结构域的蛋白质存在于所有真核生物中,并且在调节多种细胞功能 (例如蛋白质降解、转录和 RNA 剪接) 中发挥重要作用。该基因编码的蛋白质具有两个 WW 结构域、一个 SARAH 结构域和一个卷曲螺旋区域,在成人组织中普遍表达。该蛋白与 MST1 (哺乳动物不育 20 样激酶 1) 结合并促进 MST1 诱导的细胞凋亡。它也被证明可以与 HAX1 (造血细胞特异性蛋白 1 (HS1) 相关蛋白 X-1) 结合并减弱 HAX1 的抗凋亡作用。对人类和小鼠的研究表明,该基因具有肿瘤抑制因子的作用。[RefSeq 提供,2012 年 8 月]

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced Apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]

SAV1 基因产物(1)

mRNA Protein Name
NM_021818.4 NP_068590.1 protein salvador homolog 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
16930133 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16930133 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: 通过直接分析推断
29063833 GOA
enables transcription regulator activator activity IGI
IGI: 通过遗传相互作用推断
22292086 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in hippo signaling IDA
IDA: 通过直接分析推断
35429439 GOA
acts upstream of or within protein stabilization IDA
IDA: 通过直接分析推断
22292086 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytoplasm IDA
IDA: 通过直接分析推断
35429439 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19212654 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19212654 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

SAV1 蛋白结构

WW

WW: WW domain (201 - 230)

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

protein salvador homolog 1

1700040G09Rik

SAV1 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 SAV1 Q9H4B6 STK3 Homo sapiens Q13188
BioID
24255178
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Y2H
20920251
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Anti Tag CoIP
33961781
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Anti Tag CoIP
24255178
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Anti Tag CoIP
28514442
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Y2H Array
32296183
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Protein Kinase Assay
16930133
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Y2H Prey Pooling
32296183
Intra SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Anti Tag CoIP
24366813
Intra SAV1 Q9H4B6 HAX1 Homo sapiens O00165
Confocal
21567072
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Anti Tag CoIP
16930133
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Anti Tag CoIP
33961781
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Anti Tag CoIP
24366813
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
BioID
24255178
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Y2H
23386615
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Y2H
20920251
Intra SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Anti Tag CoIP
24255178
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
Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10

Neurofibromatosis, Type Ii

Neurofibromatosis 2

Neurofibromatosis, Type 2

NF2

Neurofibromatosis Type Ii

Bilateral Acoustic Neurofibromatosis

Banf

Acn

Central Neurofibromatosis

Neurofibromatosis, Central Type

Acoustic Schwannomas, Bilateral

Acoustic Neurinoma, Bilateral

Bilateral Acoustic Neurinoma

Bilateral Acoustic Schwannomas

Familial Acoustic Neuromas

Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson

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
Rattus norvegicus SAV1 RGD RGD:1307253
Bos taurus SAV1 VGNC VGNC:34300
Felis catus SAV1 VGNC VGNC:64882
Macaca mulatta SAV1 VGNC VGNC:77042
Mus musculus SAV1 MGD MGI:1927144
Canis familiaris SAV1 VGNC VGNC:45877
Others SAV1 NCBI