TGIF1 - TGFB induced factor homeobox 1 Gene

Homo sapiens

Also known as HPE4; TGIF

Gene ID: 7050 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14455	TGIF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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