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Aliases for TGIF1 Gene

Aliases for TGIF1 Gene

  • TGFB-Induced Factor Homeobox 1 2 3
  • TGIF 3 4 6
  • 5-TG-3-Interacting Factor 1 3 4
  • HPE4 3 6
  • Transforming Growth Factor-Beta-Induced Factor 3
  • TGFB-Induced Factor (TALE Family Homeobox) 2
  • TALE Homeobox TG-Interacting Factor 3
  • Homeobox Protein TGIF1 3

External Ids for TGIF1 Gene

Previous Symbols for TGIF1 Gene

  • HPE4
  • TGIF

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 acute retinal necrosis syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is TGIF2LY.

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

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

Genomics for TGIF1 Gene

Genomic Location for TGIF1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGIF1 Gene

Regulatory Elements for TGIF1 Gene

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

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

Proteomics data for TGIF1 Gene at MOPED

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 for TGIF1 Gene

Gene Families for TGIF1 Gene

HGNC:
  • TALE :Homeoboxes / TALE class

Protein Domains for TGIF1 Gene

UniProtKB/Swiss-Prot:

TGIF1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q15583
Family:
  • Belongs to the TALE/TGIF homeobox family.:
    • Q15583
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

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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IMP 10764806
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 8537382
genes like me logo Genes that share ontologies with TGIF1: view
genes like me logo Genes that share phenotypes with TGIF1: view

Animal Models for TGIF1 Gene

MGI Knock Outs for TGIF1:

miRNA for TGIF1 Gene

miRTarBase miRNAs that target TGIF1

Transcription Factor Targeting for TGIF1 Gene

Selected GeneGlobe predicted Target genes for TGIF1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for TGIF1 Gene

Localization for TGIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGIF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGIF1 Gene COMPARTMENTS Subcellular localization image for TGIF1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TGIF1 Gene

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

Pathways for TGIF1 Gene

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

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:0001843 neural tube closure IEA --
GO:0006351 transcription, DNA-templated TAS --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with TGIF1: view

Compounds for TGIF1 Gene

(55) Novoseek inferred chemical compound relationships for TGIF1 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 82.9 12
cmdb7 69.7 2
vegf 49.9 28
4-hydroxytamoxifen 35.7 2
retinoic acid 34.6 15
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:

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 for TGIF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGIF1 Gene

SOURCE GeneReport for Unigene cluster for TGIF1 Gene Hs.373550

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

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 36
  • 99 (n)
  • 98.75 (a)
TGIF1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGIF1 36
  • 89.29 (n)
  • 91.27 (a)
TGIF1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 93 (a)
OneToMany
-- 37
  • 89 (a)
OneToMany
TGIF1 36
  • 90.93 (n)
  • 92.65 (a)
mouse
(Mus musculus)
Mammalia Tgif1 36
  • 86.64 (n)
  • 88.45 (a)
Tgif1 16
Tgif1 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGIF1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGIF1 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgif1 36
  • 85.46 (n)
  • 87.97 (a)
chicken
(Gallus gallus)
Aves TGIF1 36
  • 76.46 (n)
  • 79.55 (a)
TGIF1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGIF1 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia tgif-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75852 36
tgif1 36
  • 72.55 (n)
  • 72.79 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13280 36
zebrafish
(Danio rerio)
Actinopterygii tgif1 36
  • 61.63 (n)
  • 67.05 (a)
tgif1 37
  • 64 (a)
OneToOne
wufb33g11 36
fruit fly
(Drosophila melanogaster)
Insecta achi 37
  • 18 (a)
ManyToMany
vis 37
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CUP9 37
  • 18 (a)
ManyToMany
CUP9 39
CUP9 39
TOS8 37
  • 19 (a)
ManyToMany
Species with no ortholog for TGIF1:
  • 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 MAF
rs4747 -- 3,457,799(+) AGTAC(C/G)AATAC synonymous-codon, reference
rs238132 -- 3,450,457(-) AAGGC(G/T)GGGGT intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs238133 -- 3,449,879(-) GCCTT(C/T)CTTCC intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs238533 -- 3,451,764(-) CGACT(A/G)CCAGT intron-variant, utr-variant-5-prime
rs238534 -- 3,450,934(-) AAGCC(A/G)CGGCG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv2190 CNV Insertion 18451855
esv1720477 CNV Insertion 17803354
nsv527676 CNV Loss 19592680
nsv516490 CNV Loss 19592680

Relevant External Links for TGIF1 Gene

HapMap Linkage Disequilibrium report
TGIF1
Human Gene Mutation Database (HGMD)
TGIF1

Disorders for TGIF1 Gene

(1) OMIM Diseases for TGIF1 Gene (602630)

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.

(1) University of Copenhagen DISEASES for TGIF1 Gene

(95) Novoseek inferred disease relationships for TGIF1 Gene

Disease -log(P) Hits PubMed IDs
holoprosencephaly 85.8 28
corneal dystrophy, lattice type i 65.7 1
camurati-engelmann disease 65.5 1
lattice corneal dystrophy 64.4 4
avellino corneal dystrophy 63 1

Relevant External Links for TGIF1

GeneTests
TGIF1
GeneReviews
TGIF1
Genetic Association Database (GAD)
TGIF1
Human Genome Epidemiology (HuGE) Navigator
TGIF1
genes like me logo Genes that share disorders with TGIF1: view

Publications for TGIF1 Gene

  1. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. (PMID: 8537382) Bertolino E. … Clerc R.G. (J. Biol. Chem. 1995) 2 3 4 23
  2. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. (PMID: 10835638) Gripp K.W. … Elledge S.J. (Nat. Genet. 2000) 2 3 4 23
  3. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PMID: 15221788) Dubourg C. … David V. (Hum. Mutat. 2004) 3 4 23
  4. TGFB-induced factor (TGIF): a candidate gene for psychosis on chromosome 18p. (PMID: 17440433) ChavarrA-a-Siles I. … Escamilla M.A. (Mol. Psychiatry 2007) 3 23 49
  5. Assessment of TGIF as a candidate gene for myopia. (PMID: 18172074) Pertile K.K. … Baird P.N. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23 49

Products for TGIF1 Gene

  • Addgene plasmids for TGIF1

Sources for TGIF1 Gene

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