TGIF1 - TGFB induced factor homeobox 1 Gene

Also Known as HPE4; TGIF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7050

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	10764806	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	10764806	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10764806	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10764806	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	10764806	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TGIF1 Protein Structure

Homeobox_KN

0
100
200
300
401 a.a.

Protein Preferred Names	Protein Names
homeobox protein TGIF1	5'-TG-3'-interacting factor 1

TGIF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14455	TGIF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20113	Tgif1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26617	Tgif1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TGIF1	NCBI