1. Gene
  2. TGIF1 - TGFB induced factor homeobox 1 Gene

TGIF1 - TGFB induced factor homeobox 1 Gene

中文名称:TGFB 诱导因子同源框 1

种属: Homo sapiens

同用名: HPE4; TGIF

基因 ID: 7050 | 基因类型: protein coding

关于 TGIF1

Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:3,412,009-3,459,978 (from NCBI)

This gene has 23 transcripts (splice variants), 221 orthologues, 12 paralogues and is associated with 8 phenotypes. Ubiquitous expression in urinary bladder (RPKM 9.0), gall bladder (RPKM 8.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质是非典型同源结构域的三氨基酸环延伸 (TALE) 超类的成员。 TALE 同源框蛋白是高度保守的转录调节因子。这种特殊的同源结构域与先前表征的来自细胞视黄醇结合蛋白 II 启动子的类视黄醇 X 受体反应元件结合。除了其在抑制视黄酸反应元件的 9-顺式-视黄酸依赖性 RXR α 转录激活中的作用外,该蛋白还是 SMAD2 的活性转录共阻遏物,并且可能参与发育过程中的核信号传递和成人。该基因的突变与 4 型无前脑畸形有关,这是一种大脑结构异常。已在该位点观察到可变剪接,并描述了编码不同亚型的多个剪接变体。[RefSeq 提供,2013 年 7 月]

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]

TGIF1 基因产物(13)

mRNA Protein Name
NM_001278682.2 NP_001265611.1 homeobox protein TGIF1 isoform e
NM_001278684.2 NP_001265613.1 homeobox protein TGIF1 isoform c
NM_001278686.3 NP_001265615.1 homeobox protein TGIF1 isoform d
NM_001374396.1 NP_001361325.1 homeobox protein TGIF1 isoform d
NM_001374397.1 NP_001361326.1 homeobox protein TGIF1 isoform d
NM_003244.4 NP_003235.1 homeobox protein TGIF1 isoform c
NM_170695.5 NP_733796.3 homeobox protein TGIF1 isoform d
NM_173207.4 NP_775299.1 homeobox protein TGIF1 isoform b
NM_173208.3 NP_775300.1 homeobox protein TGIF1 isoform c
NM_173209.3 NP_775301.1 homeobox protein TGIF1 isoform d
NM_173210.4 NP_775302.1 homeobox protein TGIF1 isoform d
NM_173211.2 NP_775303.1 homeobox protein TGIF1 isoform d
NM_174886.3 NP_777480.1 homeobox protein TGIF1 isoform d
基因本体论
  • 分子功能
  • 生物过程
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
10764806 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
10764806 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

TGIF1 蛋白结构

Homeobox_KN

Homeobox_KN: Homeobox KN domain (182 - 221)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
蛋白主名 其他名称

homeobox protein TGIF1

5'-TG-3'-interacting factor 1

TGIF1 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 TGIF1 Q15583 CTBP1 Homo sapiens Q13363-2
Y2H Prey Pooling
25416956
Cross TGIF1 Q15583 Axin1 Mus musculus O35625
Anti Tag CoIP
25873176
Intra TGIF1 Q15583 PML Homo sapiens P29590
Anti Tag CoIP
18511908
Intra TGIF1 Q15583 PML Homo sapiens P29590
Anti Bait CoIP
18511908
Intra TGIF1 Q15583 AXIN2 Homo sapiens Q9Y2T1
Anti Bait CoIP
25873176
Intra TGIF1 Q15583 AXIN2 Homo sapiens Q9Y2T1
Y2H
25873176
Intra TGIF1 Q15583 PLK1 Homo sapiens P53350
Validated Y2H
32814053
Intra TGIF1 Q15583 PLK1 Homo sapiens P53350
Y2H Array
32814053
Intra TGIF1 Q15583 PLK1 Homo sapiens P53350
Y2H Pooling
32814053
Intra TGIF1 Q15583 AXIN1 Homo sapiens O15169
Anti Bait CoIP
25873176
Intra TGIF1 Q15583 PNP Homo sapiens P00491
Y2H Pooling
32814053
Intra TGIF1 Q15583 PNP Homo sapiens P00491
Validated Y2H
32814053
Intra TGIF1 Q15583 PNP Homo sapiens P00491
Y2H Array
32814053
Intra TGIF1 Q15583 MDFI Homo sapiens Q99750
Validated Y2H
25416956
Intra TGIF1 Q15583 MDFI Homo sapiens Q99750
Y2H
21516116
Intra TGIF1 Q15583 LGALS8 Homo sapiens O00214
IF
18511908
Intra TGIF1 Q15583 LGALS8 Homo sapiens O00214
Y2H
18511908
Intra TGIF1 Q15583 LGALS8 Homo sapiens O00214
Anti Bait CoIP
18511908
Intra TGIF1 Q15583 LGALS8 Homo sapiens O00214
Anti Tag CoIP
18511908
Intra TGIF1 Q15583 CTBP2 Homo sapiens P56545
Y2H Prey Pooling
25416956
Intra TGIF1 Q15583 CTBP2 Homo sapiens P56545
Validated Y2H
25416956
Cross TGIF1 Q15583 Axin2 Mus musculus O88566
IF
25873176
Cross TGIF1 Q15583 Axin2 Mus musculus O88566
Anti Tag CoIP
25873176
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
Holoprosencephaly 4

HPE4

Holoprosencephaly-4

Holoprosencephaly, Type 4

Semilobar Holoprosencephaly
Microform Holoprosencephaly

Hpe, Minor Form

Hpe-L

Holoprosencephaly, Minor Form

Holoprosencephaly-Like

Microform Hpe

Midline Interhemispheric Variant Of Holoprosencephaly

Mih

Mih Type Hpe

Mihf

Mihv

Middle Interhemispheric Fusion Variant

Middle Interhemispheric Variant Of Holoprosencephaly

Syntelencephaly

Lobar Holoprosencephaly
Septopreoptic Holoprosencephaly

Septopreoptic Hpe

Alobar Holoprosencephaly
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Otorrhea

Discharging Ear

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia

Ced

Engelmann Disease

Diaphyseal Dysplasia 1, Progressive

Pdd

Diaphyseal Dysplasia

Dpd1

Camurati-Engelmann Syndrome

CAEND

Engelman'S Disease

Diaphyseal Hyperostosis

Diaphyseal Osteosclerosis

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Corneal Dystrophy, Lattice Type I

Lattice Corneal Dystrophy Type I

Lcd1

CDL1

Lcd

Lattice Corneal Dystrophy Type 1

Corneal Dystrophy, Lattice Type 1

Biber-Haab-Dimmer Dystrophy

Lattice Corneal Dystrophy, Type I

Classic Lattice Corneal Dystrophy

Lcdi

Corneal Dystrophy Lattice Type I

Dystrophy, Corneal, Lattice Type I

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy

Holoprosencephaly 11

HPE11

Holoprosencephaly-11

Holoprosencephaly, Type 11

Corneal Dystrophy
Chromosome 18p Deletion Syndrome

18p- Syndrome

De Grouchy Syndrome

Monosomy 18p

18p-

Chromosome 18p Deletion

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Exencephaly
Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media

Solitary Median Maxillary Central Incisor

SMMCI

Fused Incisors

Single Upper Central Incisor

Single Central Maxillary Incisor

Single Median Maxillary Central Incisor

Solitary Median Maxillary Central Incisor Syndrome

Incisors Fused

Incisors, Fused

Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis

Tympanic Membrane Disease

Disorder Of Tympanic Membrane

Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]

Culler-Jones Syndrome

Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome

CJS

Pallister-Hall Syndrome 2, Formerly

Phs2, Formerly

Pallister-Hall Syndrome 2

Phs2

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 TGIF1 VGNC VGNC:66139
Macaca mulatta TGIF1 VGNC VGNC:104251
Rattus norvegicus TGIF1 RGD RGD:1310517
Mus musculus TGIF1 MGD MGI:1194497
Bos taurus TGIF1 VGNC VGNC:35807