2. Gene
  3. SNIP1 - Smad nuclear interacting protein 1 Gene

SNIP1 - Smad nuclear interacting protein 1 Gene

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

中文名称：Smad 核相互作用蛋白 1

种属: Homo sapiens

同用名: PML1; PMRED; NEDHCS

基因 ID: 79753 | 基因类型: protein coding

关于 SNIP1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,534,449-37,554,293 (from NCBI)

This gene has 4 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.1), testis (RPKM 5.1) and 25 other tissues.

功能概要

该基因编码的蛋白质包含卷曲螺旋基序和 C 末端叉头相关 (FHA) 结构域。编码的蛋白质作为转录共激活因子起作用，可增加 c-Myc 活性并抑制转化生长因子 β (TGF-β) 和核因子 kappa-B (NF-kB) 信号传导。编码的蛋白质还调节细胞周期蛋白 D1 mRNA 的稳定性，并可能在细胞增殖和癌症进展中发挥作用。该基因的突变是导致精神运动迟缓、癫痫和颅面畸形 (PMRED) 的原因。[RefSeq 提供，2012 年 3 月]

This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and Cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]

SNIP1 基因产物(1)

mRNA Protein Name
NM_024700.4 NP_078976.2 smad nuclear-interacting 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 protein binding IPI
IPI: 通过物理相互作用推断
17157259 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
involved in miRNA processing IMP
IMP: 通过突变表型推断
18632581 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29360106 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

SNIP1 蛋白结构

FHA

FHA: FHA domain (281 - 361)

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

smad nuclear-interacting protein 1

FHA domain-containing protein SNIP1

SNIP1 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
SNIP1 Q8TAD8 MFAP1 Homo sapiens P55081
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 MFAP1 Homo sapiens P55081
Y2H
22365833
种属内
SNIP1 Q8TAD8 SRRM2 Homo sapiens Q9UQ35
Y2H
22365833
种属内
SNIP1 Q8TAD8 SRRM2 Homo sapiens Q9UQ35
Anti Tag CoIP
33961781
种属内
SNIP1 Q8TAD8 SRRM2 Homo sapiens Q9UQ35
Anti Tag CoIP
28514442
种属内
SNIP1 Q8TAD8 KRTAP10-6 Homo sapiens P60371
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 KRTAP10-6 Homo sapiens P60371
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 TNIP1 Homo sapiens Q15025
Y2H Prey Pooling
25416956
种属内
SNIP1 Q8TAD8 TNIP1 Homo sapiens Q15025
Y2H Array
31515488
种属内
SNIP1 Q8TAD8 TNIP1 Homo sapiens Q15025
Validated Y2H
25416956
种属内
SNIP1 Q8TAD8 SRRM4 Homo sapiens A7MD48
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 SRRM4 Homo sapiens A7MD48
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 ZBTB9 Homo sapiens Q96C00
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 ZBTB9 Homo sapiens Q96C00
Validated Y2H
32296183
种属内
SNIP1 Q8TAD8 ZBTB9 Homo sapiens Q96C00
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 MYC Homo sapiens P01106
Pull Down
17157259
种属内
SNIP1 Q8TAD8 MYC Homo sapiens P01106
Anti Bait CoIP
17157259
种属内
SNIP1 Q8TAD8 MYC Homo sapiens P01106
Anti Tag CoIP
17157259
种属内
SNIP1 Q8TAD8 SNW1 Homo sapiens Q13573
Pull Down
18794151
种属内
SNIP1 Q8TAD8 SNW1 Homo sapiens Q13573
Anti Tag CoIP
18794151
种属内
SNIP1 Q8TAD8 SNW1 Homo sapiens Q13573
IF
18794151
种属内
SNIP1 Q8TAD8 SNW1 Homo sapiens Q13573
Anti Tag CoIP
28514442
种属内
SNIP1 Q8TAD8 SNW1 Homo sapiens Q13573
Anti Bait CoIP
18794151
种属内
SNIP1 Q8TAD8 DVL3 Homo sapiens Q92997
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 DVL3 Homo sapiens Q92997
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 DVL3 Homo sapiens Q92997
Validated Y2H
32296183
种属内
SNIP1 Q8TAD8 CLK3 Homo sapiens P49761
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 CLK3 Homo sapiens P49761
Y2H Prey Pooling
32296183
种属内
SNIP1 Q8TAD8 CLK3 Homo sapiens P49761
Anti Tag CoIP
33961781
种属内
SNIP1 Q8TAD8 CLK3 Homo sapiens P49761
Validated Y2H
32296183
种属内
SNIP1 Q8TAD8 CLK2 Homo sapiens P49760
Anti Tag CoIP
33961781
种属内
SNIP1 Q8TAD8 CLK2 Homo sapiens P49760
Y2H Prey Pooling
25416956
种属内
SNIP1 Q8TAD8 CLK2 Homo sapiens P49760
Y2H
21516116
种属内
SNIP1 Q8TAD8 CLK2 Homo sapiens P49760
Validated Y2H
25416956
种属内
SNIP1 Q8TAD8 SUMO1 Homo sapiens P63165
Anti Bait CoIP
38309408
种属内
SNIP1 Q8TAD8 TSPYL2 Homo sapiens Q9H2G4
Y2H Array
32296183
种属内
SNIP1 Q8TAD8 TSPYL2 Homo sapiens Q9H2G4
Validated Y2H
32296183
种属内
SNIP1 Q8TAD8 TSPYL2 Homo sapiens Q9H2G4
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
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures

Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism

PMRED

NEDHCS
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
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-RS13491 SNIP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SNIP1 VGNC VGNC:46602
Bos taurus SNIP1 VGNC VGNC:35065
Rattus norvegicus SNIP1 RGD RGD:1359268
Mus musculus SNIP1 MGD MGI:2156003
Felis catus SNIP1 VGNC VGNC:65529
Macaca mulatta SNIP1 VGNC VGNC:106499
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