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  2. DEAF1 - DEAF1 transcription factor Gene

DEAF1 - DEAF1 transcription factor Gene

中文名称:DEAF1 转录因子

种属: Homo sapiens

同用名: SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS

基因 ID: 10522 | 基因类型: protein coding

关于 DEAF1

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:644,220-707,083 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 195 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码一种含有锌指结构域的蛋白质,可作为转录调节因子发挥作用。编码的蛋白质与其自身的启动子以及几个靶基因的启动子结合。这种蛋白质的活性在胚胎发育的调节中很重要。在患有常染色体显性认知障碍的个体中发现了该基因的突变。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 6 月]

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DEAF1 基因产物(3)

mRNA Protein Name
NM_001293634.1 NP_001280563.1 deformed epidermal autoregulatory factor 1 homolog isoform b
NM_001367390.1 NP_001354319.1 deformed epidermal autoregulatory factor 1 homolog isoform c
NM_021008.4 NP_066288.2 deformed epidermal autoregulatory factor 1 homolog isoform a
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
24726472 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
24726472 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20368287 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
24726472 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
24726472 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
24726472 GOA
involved in regulation of mammary gland epithelial cell proliferation IDA
IDA: 通过直接分析推断
18826651 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
19668219 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19668219 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

DEAF1 蛋白结构

SAND

SAND: SAND domain (197 - 272)

zf-MYND

zf-MYND: MYND finger (504 - 540)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 565 a.a.
蛋白主名 其他名称

deformed epidermal autoregulatory factor 1 homolog

nuclear DEAF-1-related transcriptional regulator

DEAF1 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
DEAF1 O75398 GSK3A Homo sapiens P49840
Pull Down
20368287
种属内
DEAF1 O75398 MECP2 Homo sapiens P51608
Anti Bait CoIP
29636529
种属内
DEAF1 O75398 MECP2 Homo sapiens P51608
Anti Tag CoIP
29636529
种属内
DEAF1 O75398 MECP2 Homo sapiens P51608
Pull Down
29636529
种属内
DEAF1 O75398 XRCC6 Homo sapiens P12956
Anti Tag CoIP
22442688
种属内
DEAF1 O75398 XRCC6 Homo sapiens P12956
Pull Down
22442688
种属内
DEAF1 O75398 TARDBP Homo sapiens Q13148
Validated Y2H
32814053
种属内
DEAF1 O75398 TARDBP Homo sapiens Q13148
Y2H Array
32814053
种属内
DEAF1 O75398 TARDBP Homo sapiens Q13148
Y2H Pooling
32814053
种属内
DEAF1 O75398 GSK3B Homo sapiens P49841
Pull Down
20368287
种属内
DEAF1 O75398 GSK3B Homo sapiens P49841
Protein Kinase Assay
20368287
种属内
DEAF1 O75398 CDKN2A Homo sapiens P42771
Anti Tag CoIP
21988832
种属内
DEAF1 O75398 CDKN2A Homo sapiens P42771
Y2H
21988832
种属内
DEAF1 O75398 FHL2 Homo sapiens Q14192
Validated Y2H
32296183
种属内
DEAF1 O75398 FHL2 Homo sapiens Q14192
Anti Tag CoIP
33961781
种属内
DEAF1 O75398 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
32296183
种属内
DEAF1 O75398 CEP76 Homo sapiens Q8TAP6
Validated Y2H
32296183
种属内
DEAF1 O75398 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
种属内
DEAF1 O75398 SNCA Homo sapiens P37840
Validated Y2H
32814053
种属内
DEAF1 O75398 SNCA Homo sapiens P37840
Y2H Array
32814053
种属内
DEAF1 O75398 SNCA Homo sapiens P37840
Y2H Pooling
32814053
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 And Impaired Expressive Language And With Or Without Seizures

Dyskinesia, Seizures, And Intellectual Developmental Disorder

Intellectual Disability-Epilepsy-Extrapyramidal Syndrome

NEDHELS

Dyseidd

Neurodevelopmental Disorder With Hypotonia, Impaired Expressive Language, And With Or Without Seizures

Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

Autosomal Dominant Non-Syndromic Intellectual Disability
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

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

Autoimmune Polyendocrine Syndrome Type 1

Whitaker Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome I

Polyglandular Type I Autoimmune Syndrome

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

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Felis catus DEAF1 VGNC VGNC:61422
Mus musculus DEAF1 MGD MGI:1858496
Bos taurus DEAF1 VGNC VGNC:106706
Rattus norvegicus DEAF1 RGD RGD:620671
Canis familiaris DEAF1 VGNC VGNC:39870
Macaca mulatta DEAF1 VGNC VGNC:71624