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Aliases for TGIF1 Gene

Aliases for TGIF1 Gene

  • TGFB Induced Factor Homeobox 1 2 3 5
  • 5-TG-3-Interacting Factor 1 3 4
  • TGIF 3 4
  • Transforming Growth Factor-Beta-Induced Factor 3
  • TGFB-Induced Factor (TALE Family Homeobox) 2
  • TALE Homeobox TG-Interacting Factor 3
  • TGFB-Induced Factor Homeobox 1 2
  • Homeobox Protein TGIF1 3
  • HPE4 3

External Ids for TGIF1 Gene

Previous HGNC Symbols for TGIF1 Gene

  • HPE4
  • TGIF

Previous GeneCards Identifiers for TGIF1 Gene

  • GC18P003404
  • GC18P003376
  • GC18P003412

Summaries for TGIF1 Gene

Entrez Gene Summary for TGIF1 Gene

  • 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]

GeneCards Summary for TGIF1 Gene

TGIF1 (TGFB Induced Factor Homeobox 1) is a Protein Coding gene. Diseases associated with TGIF1 include Holoprosencephaly 4 and Tgif1-Related Holoprosencephaly. Among its related pathways are SMAD Signaling Network and TGF-beta Receptor Signaling (WikiPathways). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is TGIF2.

UniProtKB/Swiss-Prot for TGIF1 Gene

  • Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.

Gene Wiki entry for TGIF1 Gene

Additional gene information for TGIF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGIF1 Gene

Genomics for TGIF1 Gene

Regulatory Elements for TGIF1 Gene

Enhancers for TGIF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H003615 2.1 FANTOM5 Ensembl ENCODE dbSUPER 26.3 +209.9 209869 12 MLX DMAP1 YY1 NFYC ZC3H11A MEF2D SSRP1 GLIS1 RCOR2 NBN TGIF1 MYL12A MYL12B DLGAP1-AS1 RPL21P127 SMCHD1 CBX3P2 DLGAP1-AS2 LOC105371967
GH18H003445 2 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +41.4 41394 14 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 METTL4 TGIF1 DLGAP1-AS1 RPL21P127 CBX3P2 MYL12B LOC101927094 GAPLINC
GH18H003658 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +248.7 248700 3 TBP ATF1 TBL1XR1 GATA2 ELK1 POLR3A ATF7 CAVIN1 CEBPB JUNB TGIF1 LOC105371967 PIR46587
GH18H003177 1.6 FANTOM5 Ensembl ENCODE 18.6 -232.3 -232251 3 PKNOX1 ATF1 SIN3A ZNF766 ZNF143 ZNF207 ATF7 RUNX3 JUNB ZNF592 EMILIN2 TGIF1 MYOM1 ENSG00000252258 MYL12B LPIN2 LOC101927044 GC18P003094
GH18H003591 1.8 FANTOM5 ENCODE dbSUPER 16.1 +184.4 184389 9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YY1 ZNF143 FOS DLGAP1-AS2 TGIF1 DLGAP1-AS1 CBX3P2 MYL12B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TGIF1 on UCSC Golden Path with GeneCards custom track

Promoters for TGIF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100034 493 599

Transcription factor binding sites by QIAGEN in the TGIF1 gene promoter:

Genomic Location for TGIF1 Gene

Chromosome:
18
Start:
3,411,608 bp from pter
End:
3,459,978 bp from pter
Size:
48,371 bases
Orientation:
Plus strand

Genomic View for TGIF1 Gene

Genes around TGIF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGIF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGIF1 Gene

Proteins for TGIF1 Gene

  • Protein details for TGIF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15583-TGIF1_HUMAN
    Recommended name:
    Homeobox protein TGIF1
    Protein Accession:
    Q15583
    Secondary Accessions:
    • A6NE42
    • A6NLU7
    • F8VZB6
    • Q6ICR0
    • Q8N5X9
    • Q9NRS0

    Protein attributes for TGIF1 Gene

    Size:
    401 amino acids
    Molecular mass:
    43013 Da
    Quaternary structure:
    • Interacts with CTBP, SMAD2, SMAD3 and HDAC1.

    Three dimensional structures from OCA and Proteopedia for TGIF1 Gene

    Alternative splice isoforms for TGIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGIF1 Gene

Post-translational modifications for TGIF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TGIF1 Gene

Domains & Families for TGIF1 Gene

Gene Families for TGIF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TGIF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15583

UniProtKB/Swiss-Prot:

TGIF1_HUMAN :
  • Belongs to the TALE/TGIF homeobox family.
Family:
  • Belongs to the TALE/TGIF homeobox family.
genes like me logo Genes that share domains with TGIF1: view

Function for TGIF1 Gene

Molecular function for TGIF1 Gene

UniProtKB/Swiss-Prot Function:
Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities.

Phenotypes From GWAS Catalog for TGIF1 Gene

Gene Ontology (GO) - Molecular Function for TGIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 10764806
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 10764806
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8537382
GO:0003714 transcription corepressor activity TAS 10764806
genes like me logo Genes that share ontologies with TGIF1: view
genes like me logo Genes that share phenotypes with TGIF1: view

Human Phenotype Ontology for TGIF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGIF1 Gene

MGI Knock Outs for TGIF1:

Animal Model Products

CRISPR Products

Transcription Factor Targets for TGIF1 Gene

Selected GeneGlobe predicted Target genes for TGIF1
Targeted motifs for TGIF1 Gene
HOMER Transcription Factor Regulatory Elements motif TGIF1
  • Consensus sequence: YTGWCADY Submotif: canonical Cell Type: mES GEO ID: GSE55404

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TGIF1
  • Applied Biological Materials Clones for TGIF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) for TGIF1 Gene

Localization for TGIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGIF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGIF1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TGIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TGIF1: view

Pathways & Interactions for TGIF1 Gene

genes like me logo Genes that share pathways with TGIF1: view

SIGNOR curated interactions for TGIF1 Gene

Activates:

Gene Ontology (GO) - Biological Process for TGIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development TAS 8537382
GO:0010629 negative regulation of gene expression IEA --
genes like me logo Genes that share ontologies with TGIF1: view

Drugs & Compounds for TGIF1 Gene

(33) Drugs for TGIF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) Additional Compounds for TGIF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TGIF1: view

Transcripts for TGIF1 Gene

Unigene Clusters for TGIF1 Gene

TGFB-induced factor homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TGIF1
  • Applied Biological Materials Clones for TGIF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TGIF1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g
SP1: - - - - - - - -
SP2: -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - -
SP8:
SP9: - - - -
SP10: - -

Relevant External Links for TGIF1 Gene

GeneLoc Exon Structure for
TGIF1
ECgene alternative splicing isoforms for
TGIF1

Expression for TGIF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGIF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TGIF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TGIF1 Gene:

TGIF1

SOURCE GeneReport for Unigene cluster for TGIF1 Gene:

Hs.373550

Evidence on tissue expression from TISSUES for TGIF1 Gene

  • Liver(4.3)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGIF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with TGIF1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TGIF1 Gene

Orthologs for TGIF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TGIF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGIF1 33 34
  • 99 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
OneToMany
TGIF1 33
  • 90.93 (n)
-- 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TGIF1 33 34
  • 89.29 (n)
mouse
(Mus musculus)
Mammalia Tgif1 33 16 34
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Tgif1 33
  • 85.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TGIF1 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGIF1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGIF1 33 34
  • 76.46 (n)
lizard
(Anolis carolinensis)
Reptilia TGIF1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgif1 33
  • 72.55 (n)
MGC75852 33
African clawed frog
(Xenopus laevis)
Amphibia tgif-prov 33
zebrafish
(Danio rerio)
Actinopterygii tgif1 33 34
  • 61.63 (n)
wufb33g11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13280 33
fruit fly
(Drosophila melanogaster)
Insecta achi 34
  • 18 (a)
ManyToMany
vis 34
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOS8 34
  • 19 (a)
ManyToMany
CUP9 34 36 36
  • 18 (a)
ManyToMany
Species where no ortholog for TGIF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGIF1 Gene

ENSEMBL:
Gene Tree for TGIF1 (if available)
TreeFam:
Gene Tree for TGIF1 (if available)

Paralogs for TGIF1 Gene

Paralogs for TGIF1 Gene

Pseudogenes.org Pseudogenes for TGIF1 Gene

genes like me logo Genes that share paralogs with TGIF1: view

Variants for TGIF1 Gene

Sequence variations from dbSNP and Humsavar for TGIF1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs121909066 Pathogenic, Holoprosencephaly 4 (HPE4) [MIM:142946] 3,456,420(+) CCTTT(C/G)TTCAT reference, missense
rs121909067 Pathogenic, Holoprosencephaly 4 (HPE4) [MIM:142946] 3,456,525(+) CTATC(C/G)TTCAG reference, missense
rs121909068 Pathogenic, Holoprosencephaly 4 (HPE4) [MIM:142946] 3,457,572(+) ACCCA(A/G)CCCTA reference, missense
rs121909069 Pathogenic, Holoprosencephaly 4 (HPE4) [MIM:142946] 3,457,606(+) GTCAT(C/T)CCCGG reference, missense
rs28939693 Pathogenic, Holoprosencephaly 4 (HPE4) [MIM:142946] 3,457,441(+) AAATC(A/G/T)GTTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TGIF1 Gene

Variant ID Type Subtype PubMed ID
esv1720477 CNV insertion 17803354
esv3641584 CNV loss 21293372
esv3641585 CNV gain 21293372
esv3641597 CNV gain 21293372
nsv1110716 CNV insertion 24896259
nsv2190 CNV insertion 18451855
nsv516490 CNV loss 19592680
nsv527676 CNV loss 19592680

Variation tolerance for TGIF1 Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.46; 91.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGIF1 Gene

Human Gene Mutation Database (HGMD)
TGIF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGIF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGIF1 Gene

Disorders for TGIF1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TGIF1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TGIF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGIF1_HUMAN
  • Holoprosencephaly 4 (HPE4) [MIM:142946]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269 PubMed:10835638, ECO:0000269 PubMed:15221788}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TGIF1

Genetic Association Database (GAD)
TGIF1
Human Genome Epidemiology (HuGE) Navigator
TGIF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGIF1
genes like me logo Genes that share disorders with TGIF1: view

No data available for Genatlas for TGIF1 Gene

Publications for TGIF1 Gene

  1. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. (PMID: 10835638) Gripp KW … Elledge SJ (Nature genetics 2000) 2 3 4 22 60
  2. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. (PMID: 8537382) Bertolino E … Clerc RG (The Journal of biological chemistry 1995) 2 3 4 22 60
  3. Assessment of TGIF as a candidate gene for myopia. (PMID: 18172074) Pertile KK … Baird PN (Investigative ophthalmology & visual science 2008) 3 22 45 60
  4. TGFB-induced factor (TGIF): a candidate gene for psychosis on chromosome 18p. (PMID: 17440433) Chavarría-Siles I … Escamilla MA (Molecular psychiatry 2007) 3 22 45 60
  5. Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects. (PMID: 17048038) Hasumi Y … Mizuki N (Immunogenetics 2006) 3 22 45 60

Products for TGIF1 Gene

  • Addgene plasmids for TGIF1

Sources for TGIF1 Gene

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