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TGIF1 Gene

protein-coding   GIFtS: 64
GCID: GC18P003411

TGFB-Induced Factor Homeobox 1

(Previous name: TGFB-induced factor (TALE family homeobox))
(Previous symbols: HPE4, TGIF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TGFB-Induced Factor Homeobox 11 2     TGFB-Induced Factor (TALE Family Homeobox)1
TGIF1 2 3 5     Homeobox Protein TGIF12
HPE41 2 5     TALE Homeobox TG-Interacting Factor2
5'-TG-3'-Interacting Factor 12 3     Transforming Growth Factor-Beta-Induced Factor2

External Ids:    HGNC: 117761   Entrez Gene: 70502   Ensembl: ENSG000001774267   OMIM: 6026305   UniProtKB: Q155833   

Export aliases for TGIF1 gene to outside databases

Previous GC identifers: GC18P003404 GC18P003376 GC18P003412


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tgif1-related holoprosencephaly, and midline interhemispheric variant of holoprosencephaly. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MEIS2.

UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583
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 Wiki entry for TGIF1 (Homeobox protein TGIF1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGIF1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGIF1 promoter sequence
   Search Chromatin IP Primers for TGIF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGIF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.3   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.31

TGIF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGIF1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P003411:  view genomic region     (about GC identifiers)

Start:
3,411,606 bp from pter      End:
3,458,409 bp from pter
Size:
46,804 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583 (See protein sequence)
Recommended Name: Homeobox protein TGIF1  
Size: 401 amino acids; 43013 Da
Subunit: Interacts with CTBP, SMAD2, SMAD3 and HDAC1
1 PDB 3D structure from and Proteopedia for TGIF1:
2LK2 (3D)    
Secondary accessions: A6NE42 A6NLU7 F8VZB6 Q6ICR0 Q8N5X9 Q9NRS0
Alternative splicing: 4 isoforms:  Q15583-1   Q15583-2   Q15583-3   Q15583-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TGIF1: NX_Q15583

Explore proteomics data for TGIF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TGIF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (11 alternative transcripts): 
    NP_001265611.1  NP_001265613.1  NP_001265615.1  NP_003235.1  NP_733796.2  NP_775299.1  NP_775300.1  NP_775301.1  
    NP_775302.1  NP_775303.1  NP_777480.1  

    ENSEMBL proteins: 
     ENSP00000449287   ENSP00000449531   ENSP00000447747   ENSP00000448121   ENSP00000449973  
     ENSP00000339631   ENSP00000384133   ENSP00000448934   ENSP00000446944   ENSP00000462285  
     ENSP00000450025   ENSP00000343969   ENSP00000327959   ENSP00000449580   ENSP00000449722  
     ENSP00000446838   ENSP00000449501   ENSP00000385206   ENSP00000384970   ENSP00000383031  
    Reactome Protein details: Q15583

    TGIF1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for TGIF1
    OriGene Protein Over-expression Lysate for TGIF1
    OriGene MassSpec for TGIF1
    OriGene Custom Protein Services for TGIF1
    GenScript Custom Purified and Recombinant Proteins Services for TGIF1
    Novus Biologicals TGIF1 Proteins
    Novus Biologicals TGIF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TGIF1

    TGIF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TGIF1
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    Novus Biologicals TGIF1 Antibodies
    Abcam antibodies for TGIF1
    Cloud-Clone Corp. Antibodies for TGIF1
    ThermoFisher Antibodies for TGIF1
    LSBio Antibodies in human, mouse, rat for TGIF1

    TGIF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TGIF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TGIF1
    Cloud-Clone Corp. CLIAs for TGIF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TALE: Homeoboxes / TALE class

    3 InterPro protein domains:
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like
     IPR008422 Homeobox_KN_domain

    Graphical View of Domain Structure for InterPro Entry Q15583

    ProtoNet protein and cluster: Q15583

    UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583
    Similarity: Belongs to the TALE/TGIF homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    TGIF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGIF1_HUMAN, Q15583
    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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity TAS10764806
    GO:0005515protein binding IPI18511908
         
    TGIF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TGIF1:
     Elongated cells 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Tgif1) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system  limbs/digits/tail 
     mortality/aging  nervous system  normal  other  reproductive system 

    TGIF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGIF1: Tgif1tm1Ychn Tgif1tm1Dwot Tgif1tm1.1Caw Tgif1tm1Pah

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGIF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGIF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGIF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGIF1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for TGIF1 (see all 297):
    ABAT,  ACPT,  ACTG1,  ACTL8,  ADAM30,  AIPL1,  ALPP,  ANGPTL5,  ANKRD20A1,  ANKRD20A2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGIF1:
    hsa-mir-21-5p (MIRT004287)

    Block miRNA regulation of human, mouse, rat TGIF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGIF1 (see all 19):
    hsa-miR-3673 hsa-miR-25 hsa-miR-139-5p hsa-miR-144 hsa-miR-23a hsa-miR-92b hsa-miR-3163 hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidTGIF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGIF1
    Predesigned siRNA for gene silencing in human, mouse, rat TGIF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGIF1

    Clone
    Products:
         
    OriGene clones in human, mouse for TGIF1 (see all 44)
    OriGene ORF clones in mouse, rat for TGIF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): TGIF1 (NM_174886)
    Sino Biological Human cDNA Clone for TGIF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGIF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGIF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGIF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TGIF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGIF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TGIF1_HUMAN, Q15583: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton3
    cytosol2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--

    TGIF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TGIF1 About   (see all 10)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    TGFBR2 Kinase Domain Mutants in Cancer0.60
    SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription0.72
    Signaling by TGF-beta Receptor Complex0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Signaling by GPCR
    Signal Transduction0.58
    4TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    5TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TGIF1
        SMAD Signaling Network

    Selected BioSystems Pathways for TGIF1 (see all 6)
        TGF Beta Signaling Pathway
    EGFR1 Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    Id Signaling Pathway
    Regulation of nuclear SMAD2/3 signaling


    2 Reactome Pathways for TGIF1
        Downregulation of SMAD2/3:SMAD4 transcriptional activity
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription



    TGIF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGIF1: 
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Transcription Factors in human mouse rat
              T Helper Cell Differentiation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGIF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TGIF1 (Q155831, 2, 3 ENSP000003279594) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LGALS8O002141, 2, 3, ENSP000003095764EBI-714215,EBI-740058 MINT-6798878 MINT-6799089 MINT-6799024 MINT-6799071 MINT-6799039 MINT-6799002 MINT-6799057 MINT-6798916 MINT-6798824 MINT-6798990 I2D: score=1 STRING: ENSP00000309576
    PMLP295901, 2, 3, ENSP000002680584EBI-714215,EBI-295890 MINT-6799106 MINT-6799144 MINT-6799161 I2D: score=2 STRING: ENSP00000268058
    MED31Q9Y3C72, 3MINT-64253 I2D: score=5 
    LRIF1Q5T3J32, 3MINT-64252 I2D: score=4 
    CTBP1Q133632, 3, ENSP000002909214MINT-14492 MINT-14493 I2D: score=4 STRING: ENSP00000290921
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS--
    GO:0001843neural tube closure IEA--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    TGIF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TGIF1

    Selected Novoseek inferred chemical compound relationships for TGIF1 gene (see all 55)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 82.9 12 15034302 (1), 18039529 (1), 19242377 (1), 20021962 (1) (see all 12)
    cmdb7 69.7 2 9662260 (1), 9663468 (1)
    vegf 49.9 29 16562680 (7), 10027603 (1), 9808988 (1), 14668934 (1) (see all 22)
    4-hydroxytamoxifen 35.7 2 11530283 (1), 1551100 (1)
    retinoic acid 34.6 21 16192631 (3), 17998248 (2), 16428452 (2), 16534781 (1) (see all 11)
    estrogen 29.5 11 2334912 (1), 18463975 (1), 8831902 (1), 11115535 (1) (see all 10)
    ribonucleic acid 25.5 1 7962292 (1)
    procollagen 24.8 2 7806036 (1), 7538779 (1)
    threonine 24 1 17379087 (1)
    progesterone 15.9 6 8831902 (2), 2334912 (1), 11517968 (1), 15239838 (1)



    TGIF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TGIF1 gene (11 alternative transcripts): 
    NM_001278682.1  NM_001278684.1  NM_001278686.1  NM_003244.3  NM_170695.3  NM_173207.2  NM_173208.2  NM_173209.2  
    NM_173210.2  NM_173211.1  NM_174886.2  

    Unigene Cluster for TGIF1:

    TGFB-induced factor homeobox 1
    Hs.373550  [show with all ESTs]
    Unigene Representative Sequence: NM_170695
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000552383 ENST00000547233 ENST00000550958 ENST00000548489(uc002klv.3)
    ENST00000549780 ENST00000549253 ENST00000551557 ENST00000343820(uc002klw.3 uc002kly.3)
    ENST00000407501 ENST00000546979 ENST00000551402(uc010dkm.1) ENST00000577543
    ENST00000551541 ENST00000345133 ENST00000330513(uc002klz.3 uc002kma.3)
    ENST00000549546 ENST00000549468 ENST00000551333
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TGIF1 (see all 19):
    hsa-miR-3673 hsa-miR-25 hsa-miR-139-5p hsa-miR-144 hsa-miR-23a hsa-miR-92b hsa-miR-3163 hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidTGIF1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TGIF1
    Predesigned siRNA for gene silencing in human, mouse, rat TGIF1
    Clone
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    OriGene ORF clones in mouse, rat for TGIF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): TGIF1 (NM_174886)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGIF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGIF1
    Primer
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    OriGene qPCR primer pairs and template standards for TGIF1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGIF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGIF1
      QuantiTect SYBR Green Assays in human, mouse, rat TGIF1
      QuantiFast Probe-based Assays in human, mouse, rat TGIF1

    Additional mRNA sequence: 

    AF179900.1 AK291112.1 AK307230.1 AK309471.1 BC000814.1 BC031268.1 CR450333.1 X89750.1 

    13 DOTS entries:

    DT.417003  DT.100793116  DT.100793120  DT.91756825  DT.95125380  DT.91756822  DT.95125382  DT.100793124 
    DT.100034650  DT.100037433  DT.121084917  DT.121622287  DT.99952368 

    Selected AceView cDNA sequences (see all 225):

    CD365040 CR614605 CB161219 AI362900 BE296707 AV681706 BQ897232 NM_003244 
    BE939581 AA994293 BC000814 CR606247 NM_174886 BX952985 CA426687 AI332368 
    BM832295 BQ437864 BE699435 BQ677431 AL701784 CD679580 BM680410 BF112087 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TGIF1 (see all 10)    About this scheme

    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:                                -     -     -     -     -     -     -                                                   


    ECgene alternative splicing isoforms for TGIF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TGIF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAACAGGA
    TGIF1 Expression
    About this image


    TGIF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             Midbrain dopaminergic-like neurons
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Neurons
             Midbrain dopaminergic-like neurons
     
     Uterus (Reproductive System)
    TGIF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGIF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.373550
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGIF1: 
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Transcription Factors in human mouse rat
              T Helper Cell Differentiation in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGIF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TGIF1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgif11 , 5 TGFB-induced factor homeobox 11, 5 86.64(n)1
    88.45(a)1
      17 (41.87 cM)5
    218151  NM_001164075.11  NP_001157547.11 
     708442055 
    chicken
    (Gallus gallus)
    Aves TGIF11 TGFB-induced factor homeobox 1 76.46(n)
    79.55(a)
      396339  NM_205379.1  NP_990710.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGIF16
    TGFB-induced factor homeobox 1
    73(a)
    1 ↔ 1
    4(42441104-42459123)
    African clawed frog
    (Xenopus laevis)
    Amphibia tgif-prov2 TGFB-induced factor (TALE family homeobox) 75.88(n)    BC044016.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb33g112 wufb33g11 75.46(n)   321756  AY391467.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta achi6
    vis6
    vismay
    18(a)
    18(a)
    many ↔ many
    many ↔ many
    2R(8399035-8402556)
    2R(8395396-8398311)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CUP9(YPL177C)4 Homeodomain-containing transcriptional repressor of more   --   16(213962-213042) 855926  NP_015148.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGIF1 gene
    MEIS22  TGIF2LY2  PKNOX12  MEIS32  TGIF22  PKNOX22  TGIF2LX2  MEIS12  
    Selected SIMAP similar genes for TGIF1 using alignment to 11 protein entries:     TGIF1_HUMAN (see all proteins) (see all similar genes):
    TGIF2    TGIF2LY    TGIF2LX    PKNOX1    MEIS2    PKNOX2
    MKX    MEIS1    IRX6    MEIS3P1    MEIS3P2    PBX1
    PBX3    MEIS3    IRX4    IRX1    IRX3    IRX5

    TGIF1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TGIF1
    PGOHUM00000261253 PGOHUM00000259344


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TGIF1 (see all 1236)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0238034
    Holoprosencephaly 4 (HPE4)4--see VAR_0238032 Q L mis40--------
    VAR_0099614
    Holoprosencephaly 4 (HPE4)4--see VAR_0099612 S C mis40--------
    VAR_0099644
    Holoprosencephaly 4 (HPE4)4--see VAR_0099642 S F mis40--------
    VAR_0099634
    Holoprosencephaly 4 (HPE4)4--see VAR_0099632 T A mis40--------
    VAR_0099624
    Holoprosencephaly 4 (HPE4)4--see VAR_0099622 P R mis40--------
    rs1219090701,2
    Cpathogenic13441843(+) GCCTAC/GCTTCC 9 Y * int1 stg1 us2k10--------
    rs289396931,2
    Cpathogenic13447129(+) AAATCA/TGTTCA 16 Q L mis10--------
    rs1219090681,2
    C,Fpathogenic13447260(+) ACCCAA/GCCCTA 16 T A mis12Minor allele frequency- G:0.00NA EU 5865
    rs739384791,2
    C,F--3399693(+) TGTTGG/ACAGGC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs47971111,2
    C,F--3399702(+) GCTTGC/TTGCTG 1 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for TGIF1 (3411606 - 3458409 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TGIF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1720477CNV Insertion17803354
    nsv2190CNV Insertion18451855
    nsv527676CNV Loss19592680
    nsv516490CNV Loss19592680

    Human Gene Mutation Database (HGMD): TGIF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGIF1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGIF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602630   
    OMIM disorders: 142946  
    UniProtKB/Swiss-Prot: TGIF1_HUMAN, Q15583
  • 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for TGIF1 (see all 142):    
    About MalaCards
    tgif1-related holoprosencephaly    midline interhemispheric variant of holoprosencephaly    holoprosencephaly-4    acute retinal necrosis syndrome
    septopreoptic holoprosencephaly    lobar holoprosencephaly    camurati-engelmann disease    exencephaly
    prostate cancer 1    chronic venous leg ulcers    basal encephalocele    malaria, severe
    alobar holoprosencephaly    single median maxillary central incisor    pituitary stalk interruption syndrome    lattice corneal dystrophy
    holoprosencephaly    encephalocele    myopia-2    semilobar holoprosencephaly

    1 disease from the University of Copenhagen DISEASES database for TGIF1:
    Holoprosencephaly

    TGIF1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TGIF1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    holoprosencephaly 85.8 36 17158784 (3), 16475235 (2), 11427533 (2), 10995736 (2) (see all 23)
    corneal dystrophy, lattice type i 65.7 1 12586172 (1)
    camurati-engelmann disease 65.5 1 11810278 (1)
    lattice corneal dystrophy 64.4 4 15559315 (2), 19092416 (1), 10328397 (1)
    avellino corneal dystrophy 63 1 17096061 (1)
    corneal dystrophy 60.7 7 15885785 (2), 11692612 (1), 17096061 (1), 19381088 (1) (see all 6)
    necrosis 51.4 69 7998677 (1), 10027603 (1), 10321703 (1), 11316069 (1) (see all 68)
    tumors 49.4 85 16562680 (3), 7998677 (1), 10321703 (1), 15569984 (1) (see all 78)
    liver fibrosis 41.9 2 1900574 (1), 15137003 (1)
    choriocarcinoma 40 1 12606473 (1)

    GeneTests: TGIF1
    GeneReviews: TGIF1
    Genetic Association Database (GAD): TGIF1
    Human Genome Epidemiology (HuGE) Navigator: TGIF1 (5 documents)

    Export disorders for TGIF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TGIF1 gene, integrated from 10 sources (see all 672):
    (articles sorted by number of sources associating them with TGIF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. (PubMed id 10835638)1, 2, 3, 9 Gripp K.W....Elledge S.J. (Nat. Genet. 2000)
    2. A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif. (PubMed id 8537382)1, 2, 3, 9 Bertolino E.... Clerc R.G. (J. Biol. Chem. 1995)
    3. Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription. (PubMed id 10764806)1, 2, 9 Yang Y.... Mouradian M.M. (J. Biol. Chem. 2000)
    4. Assessment of TGIF as a candidate gene for myopia. (PubMed id 18172074)1, 4, 9 Pertile K.K....Baird P.N. (amp 2008)
    5. TGFB-induced factor (TGIF): a candidate gene for psychosis on chromosome 18p. (PubMed id 17440433)1, 4, 9 ChavarrA-a-Siles I....Escamilla M.A. (Mol. Psychiatry 2007)
    6. 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. (PubMed id 17048038)1, 4, 9 Hasumi Y....Mizuki N. (Immunogenetics 2006)
    7. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PubMed id 15221788)1, 2, 9 Dubourg C.... David V. (Hum. Mutat. 2004)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. (PubMed id 19060265)1, 4 Wang P....Zhang Q. (amp 2009)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7050 HGNC: 11776 AceView: TGIF Ensembl:ENSG00000177426 euGenes: HUgn7050
    ECgene: TGIF1 H-InvDB: TGIF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TGIF1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGIF1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGIF1 gene:
    Search GeneIP for patents involving TGIF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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