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  2. TBR1 - T-box brain transcription factor 1 Gene

TBR1 - T-box brain transcription factor 1 Gene

中文名称:T 盒脑转录因子 1

种属: Homo sapiens

同用名: IDDAS; TBR-1; TES-56

基因 ID: 10716 | 基因类型: protein coding

关于 TBR1

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:161,416,297-161,425,870 (from NCBI)

This gene has 6 transcripts (splice variants), 254 orthologues, 16 paralogues and is associated with 4 phenotypes. Restricted expression toward brain (RPKM 13.1).

功能概要

该基因是一个保守基因家族的成员,该家族共享一个共同的 DNA 结合域,即 T 盒。 T-box 基因编码参与许多发育过程调节的转录因子。在小鼠中,该基因的直系同源物在大脑皮层、海马体、杏仁核和嗅球中表达,并被认为在神经元迁移和轴突投射中发挥重要作用。在小鼠中,发现该蛋白质的 C 末端区域对于与钙/钙调蛋白依赖性丝氨酸蛋白激酶的鸟苷酸激酶结构域相关联是必要且充分的。[RefSeq 提供,2015 年 12 月]

This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]

TBR1 基因产物(1)

mRNA Protein Name
NM_006593.4 NP_006584.1 T-box brain 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
30250039 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
25232744 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25232744 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

TBR1 蛋白结构

T-box

T-box: T-box (205 - 394)

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

T-box brain protein 1

T-box, brain 1

TBR1 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
TBR1 Q16650 APP Homo sapiens P05067-2
Y2H Pooling
32814053
种属内
TBR1 Q16650 APP Homo sapiens P05067-2
Validated Y2H
32814053
种属内
TBR1 Q16650 APP Homo sapiens P05067-2
Y2H Array
32814053
种属内
TBR1 Q16650 ATXN1 Homo sapiens P54253
BioID
35140242
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
Intellectual Developmental Disorder With Autism And Speech Delay

Autism, Susceptibility To, 5

IDDAS

Phrase Speech Delay, Autism-Related

Autism-Related Speech Delay

Autism 5, Formerly

Autism, Susceptibility To, 5, Formerly

Auts5, Formerly

Autism 5

Auts5

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Chromosome 2q24 Microdeletion Syndrome

2q24 Microdeletion Syndrome

Monosomy 2q24

2q24 Deletion

Deletion 2q24

Del(2)(Q24)

Chromosome 2, Monosomy 2q24

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Micpch

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Syndromic Intellectual Disability
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
Canis familiaris TBR1 VGNC VGNC:47166
Felis catus TBR1 VGNC VGNC:107672
Rattus norvegicus TBR1 RGD RGD:1591773
Mus musculus TBR1 MGD MGI:107404
Macaca mulatta TBR1 VGNC VGNC:78111
Bos taurus TBR1 VGNC VGNC:35662