2. Gene
  3. SATB1 - SATB homeobox 1 Gene

SATB1 - SATB homeobox 1 Gene

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

中文名称：SATB 同源框 1

种属: Homo sapiens

同用名: DEFDA; KTZSL

基因 ID: 6304 | 基因类型: protein coding

关于 SATB1

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:18,345,377-18,445,592 (from NCBI)

This gene has 23 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 7.3) and 25 other tissues.

功能概要

该基因编码一种基质蛋白，该蛋白通过独特的核结构结合核基质和支架相关 DNA。该蛋白质募集染色质重塑因子以调节染色质结构和基因表达。[RefSeq 提供，2016 年 4 月]

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]

SATB1 基因产物(9)

mRNA Protein Name
NM_001131010.4 NP_001124482.1 DNA-binding protein SATB1 isoform 1
NM_001195470.3 NP_001182399.1 DNA-binding protein SATB1 isoform 2
NM_001322871.2 NP_001309800.1 DNA-binding protein SATB1 isoform 2
NM_001322872.2 NP_001309801.1 DNA-binding protein SATB1 isoform 1
NM_001322873.2 NP_001309802.1 DNA-binding protein SATB1 isoform 1
NM_001322874.2 NP_001309803.1 DNA-binding protein SATB1 isoform 1
NM_001322875.2 NP_001309804.1 DNA-binding protein SATB1 isoform 1
NM_001322876.2 NP_001309805.1 DNA-binding protein SATB1 isoform 3
NM_002971.6 NP_002962.1 DNA-binding protein SATB1 isoform 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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
15851481 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
15851481 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18408014 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
15851481 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15851481 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
15851481 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
18408014 GOA
located in nuclear body IDA
IDA: 通过直接分析推断
33513338 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18408014 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

SATB1 蛋白结构

CUT

CUT: CUT domain (364 - 448)

CUT

CUT: CUT domain (487 - 570)

Homeobox

Homeobox: Homeobox domain (646 - 701)

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

DNA-binding protein SATB1

special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)

SATB1 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 SATB1 Q01826 SUMO1P1 Homo sapiens G2XKQ0
Validated Y2H
25416956
Intra SATB1 Q01826 SUMO1P1 Homo sapiens G2XKQ0
Y2H Prey Pooling
25416956
Intra SATB1 Q01826 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra SATB1 Q01826 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra SATB1 Q01826 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra SATB1 Q01826 CTNNB1 Homo sapiens P35222
Anti Tag CoIP
20126258
Intra SATB1 Q01826 CTNNB1 Homo sapiens P35222
Pull Down
20126258
Intra SATB1 Q01826 SPG21 Homo sapiens Q9NZD8
Validated Y2H
32296183
Intra SATB1 Q01826 SPG21 Homo sapiens Q9NZD8
Y2H Array
32296183
Intra SATB1 Q01826 SPG21 Homo sapiens Q9NZD8
Y2H Prey Pooling
32296183
Intra SATB1 Q01826 SUMO1 Homo sapiens P63165
Y2H
18408014
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
Kohlschutter-Tonz Syndrome-Like

KTZSL
Developmental Delay With Dysmorphic Facies And Dental Anomalies

DEFDA
Hyperaldosteronism, Familial, Type Ii

Familial Hyperaldosteronism Type Ii

Familial Hyperaldosteronism Type 2

HALD2

Fh Ii

Fh2

Familial Adrenal Adenoma

Fh-Ii

Fhii

Hyperaldosteronism Familial Type 2

Hyperaldosteronism, Familial, 2
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome

KTZS

Epilepsy And Yellow Teeth

Kohlschutter Tonz Syndrome

Kohlschutter Syndrome

Epilepsy Dementia Amelogenesis Imperfecta

Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome

Epilepsy, Dementia, And Amelogenesis Imperfecta

Kohlschutter'S Syndrome

Kohlschütter-Tönz Syndrome

Kohlschuetter-Toenz Syndrome

Presenile Dementia

Dementia
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder
Noonan Syndrome 13

NS13
Breast Implant-Associated Anaplastic Large Cell Lymphoma
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD
Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory
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-RS12457 SATB1 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 SATB1 VGNC VGNC:45875
Bos taurus SATB1 VGNC VGNC:34298
Macaca mulatta SATB1 VGNC VGNC:84086
Rattus norvegicus SATB1 RGD RGD:1305561
Mus musculus SATB1 MGD MGI:105084
Felis catus SATB1 VGNC VGNC:64881
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