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  2. SKOR1 - SKI family transcriptional corepressor 1 Gene

SKOR1 - SKI family transcriptional corepressor 1 Gene

中文名称:SKI 家族转录辅阻遏物 1

种属: Homo sapiens

同用名: CORL1; LBXCOR1; FUSSEL15

基因 ID: 390598 | 基因类型: protein coding

关于 SKOR1

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,825,509-67,834,582 (from NCBI)

This gene has 4 transcripts (splice variants), 246 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

启用 SMAD 结合活性和序列特异性双链 DNA 结合活性。参与 BMP 信号通路的负调控。位于树突和神经细胞体中。 [由基因组资源联盟提供,2022 年 4 月]

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]

SKOR1 基因产物(1)

mRNA Protein Name
NM_001365915.1 NP_001352844.1 SKI family transcriptional corepressor 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 SMAD binding IPI
IPI: 通过物理相互作用推断
17292623 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of BMP signaling pathway IDA
IDA: 通过直接分析推断
17292623 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in dendrite IDA
IDA: 通过直接分析推断
17292623 GOA
located in neuronal cell body IDA
IDA: 通过直接分析推断
17292623 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

SKOR1 蛋白结构

Ski_Sno

Ski_Sno: SKI/SNO/DAC family (57 - 168)

c-SKI_SMAD_bind

c-SKI_SMAD_bind: c-SKI Smad4 binding domain (180 - 272)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 965 a.a.
蛋白主名 其他名称

SKI family transcriptional corepressor 1

LBX1 corepressor 1

关联疾病

疾病名称 别名
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease

Juvenile Osteochondrosis Of Tibial Tubercle

Osteochondrosis

Osteochondritis Of Tibial Tubercle

Osteochondrosis Of Proximal Tibia

Aseptic Necrosis Of The Tibial Tubercle

Osteochondrosis Of The Tibial Tubercle

Osteochondritis Juvenilis

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis

Congenital Infundibular Stenosis

Infundibular Pulmonic Stenosis

Infundibular Pulmonic Stenosis, Congenital

Subvalvular Pulmonic Stenosis

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
Bos taurus SKOR1 VGNC VGNC:55143
Rattus norvegicus SKOR1 RGD RGD:1307687
Felis catus SKOR1 VGNC VGNC:104718
Mus musculus SKOR1 MGD MGI:2443473
Macaca mulatta SKOR1 VGNC VGNC:77544