1. Gene
  2. SPEN - spen family transcriptional repressor Gene

SPEN - spen family transcriptional repressor Gene

中文名称:spen 家族转录抑制因子

种属: Homo sapiens

同用名: MINT; SHARP; RATARS; RBM15C; HIAA0929

基因 ID: 23013 | 基因类型: protein coding

关于 SPEN

Cytogenetic location: 1p36.21-p36.13 Genomic coordinates (GRCh38): 1:15,847,707-15,940,456 (from NCBI)

This gene has 7 transcripts (splice variants), 290 orthologues, 7 paralogues and is associated with 131 phenotypes. Ubiquitous expression in ovary (RPKM 13.5), bone marrow (RPKM 9.9) and 25 other tissues.

功能概要

该基因编码一种激素诱导型转录抑制因子。这种基因产物对转录的抑制可以通过与其他阻遏物的相互作用、通过募集参与组蛋白去乙酰化的蛋白质或通过转录激活因子的隔离来实现。该基因的产物包含一个羧基末端结构域,可以与其他辅抑制蛋白结合。该域还允许与 NuRD 复合物的成员相互作用,NuRD 复合物是一种含有脱乙酰酶活性的核小体重塑蛋白复合物。此外,该阻遏物包含几个 RNA 识别基序,这些基序赋予与类固醇受体 RNA 共激活因子的结合;这种结合可以调节配体和非配体类固醇受体的活性。[RefSeq 提供,2008 年 7 月]

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with Other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to Other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]

SPEN 基因产物(1)

mRNA Protein Name
NM_015001.3 NP_055816.2 msx2-interacting protein
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 RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
16287852 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16129689 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
16287852 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
16129689 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16287852 GOA
involved in positive regulation of neurogenesis IMP
IMP: 通过突变表型推断
16287852 GOA
involved in random inactivation of X chromosome IDA
IDA: 通过直接分析推断
25843628 GOA
involved in regulatory ncRNA-mediated heterochromatin formation IMP
IMP: 通过突变表型推断
25843628 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription repressor complex IDA
IDA: 通过直接分析推断
16287852 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

SPEN 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (8 - 68)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (339 - 406)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (440 - 507)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (535 - 587)

SPOC

SPOC: SPOC domain (3509 - 3630)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3664 a.a.
蛋白主名 其他名称

msx2-interacting protein

Msx2 interacting nuclear target (MINT) homolog

SPEN 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
SPEN Q96T58 NCK1 Homo sapiens P16333
Peptide Array
17474147
种属内
SPEN Q96T58 RBPJ Homo sapiens Q06330
Pull Down
21102556
种属内
SPEN Q96T58 NCOR2 Homo sapiens Q9Y618
SPR
24268649
种属内
SPEN Q96T58 NCOR2 Homo sapiens Q9Y618
ITC
24268649
种属内
SPEN Q96T58 NCOR2 Homo sapiens Q9Y618
NMR
24268649
种属内
SPEN Q96T58 CRK Homo sapiens P46108
Peptide Array
17474147
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
Radio-Tartaglia Syndrome

RATARS

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Mullegama-Klein-Martinez Syndrome

MKMS

Nedxcf

Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities

X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities

Paranasal Sinus Lymphoma

Lymphoma Of Accessory Sinus

Lymphoma Of Paranasal Sinus

Wolfram Syndrome 2

WFS2

Ezb Diffuse Large B-Cell Lymphoma

Ezb Dlbcl

Doid:0081065

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D

Mcc2 Deficiency

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Ii

Methylcrotonylglycinuria, Type Ii

3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Type Ii

Mcgii

Methylcrotonylglycinuria Type Ii

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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 SPEN VGNC VGNC:35204
Felis catus SPEN VGNC VGNC:82337
Mus musculus SPEN MGD MGI:1891706
Macaca mulatta SPEN VGNC VGNC:77940
Rattus norvegicus SPEN RGD RGD:1589867
Others SPEN NCBI