Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    TGIF1 TGFB induced factor homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 7050, updated on 8-Nov-2017
    Official Symbol
    TGIF1provided by HGNC
    Official Full Name
    TGFB induced factor homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:11776
    See related
    Ensembl:ENSG00000177426 MIM:602630; Vega:OTTHUMG00000131511
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HPE4; TGIF
    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]
    Orthologs
    Location:
    18p11.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (3411927..3458412)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3411925..3458409)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda joining-constant/OR18 (pseudogene) Neighboring gene uncharacterized LOC101927094 Neighboring gene ribosomal protein L21 pseudogene 127 Neighboring gene uncharacterized LOC105371965 Neighboring gene biorientation of chromosomes in cell division 1 pseudogene 1 Neighboring gene gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA Neighboring gene DLG associated protein 1 Neighboring gene RNA, 7SL, cytoplasmic 39, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Holoprosencephaly 4
    MedGen: C1840528 OMIM: 142946 GeneReviews: Holoprosencephaly Overview
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
    • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
      Coregulation of Androgen receptor activity, organism-specific biosystem
      Coregulation of Androgen receptor activity
    • Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
      Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
      SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Tgif disruption of Shh signaling, organism-specific biosystem (from WikiPathways)
      Tgif disruption of Shh signaling, organism-specific biosystemMutations in the Sonic Hedgehog(SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. HPE is a severe human genetic disease affecting craniofa...
    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
      Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC5066, FLJ97178, MGC39747

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    homeobox protein TGIF1
    Names
    5'-TG-3'-interacting factor 1
    TALE homeobox TG-interacting factor
    transforming growth factor-beta-induced factor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007447.1 RefSeqGene

      Range
      44332..51338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278682.1NP_001265611.1  homeobox protein TGIF1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      BC031268, CB161219
      UniProtKB/Swiss-Prot
      Q15583
      Conserved Domains (1) summary
      pfam05920
      Location:5695
      Homeobox_KN; Homeobox KN domain
    2. NM_001278684.1NP_001265613.1  homeobox protein TGIF1 isoform c

      See identical proteins and their annotated locations for NP_001265613.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) includes two alternate 5' exons, which result in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AP001025, BC000814, BC031268, BF446044
      Consensus CDS
      CCDS11833.1
      UniProtKB/Swiss-Prot
      Q15583
      Conserved Domains (1) summary
      pfam05920
      Location:5392
      Homeobox_KN; Homeobox KN domain
    3. NM_001278686.1NP_001265615.1  homeobox protein TGIF1 isoform d

      See identical proteins and their annotated locations for NP_001265615.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) includes two alternate 5' exons, which result in a different 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8, and 11 encode the same isoform d.
      Source sequence(s)
      AP001025, BC031268, BM849453
      Consensus CDS
      CCDS11835.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000447747.2, ENST00000548489.6
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain
    4. NM_003244.3NP_003235.1  homeobox protein TGIF1 isoform c

      See identical proteins and their annotated locations for NP_003235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) is shorter and has a distinct N-terminus, compared to isoform a. Variants 3, 4 and 10 encode the same isoform c.
      Source sequence(s)
      AU310737, BC031268
      Consensus CDS
      CCDS11833.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000339631.5, OTTHUMP00000162246, ENST00000343820.9, OTTHUMT00000254367
      Conserved Domains (1) summary
      pfam05920
      Location:5392
      Homeobox_KN; Homeobox KN domain
    5. NM_170695.3NP_733796.2  homeobox protein TGIF1 isoform a

      See identical proteins and their annotated locations for NP_733796.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AP001025, BC031268
      Consensus CDS
      CCDS11834.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000327959.5, OTTHUMP00000162247, ENST00000330513.9, OTTHUMT00000254368
      Conserved Domains (1) summary
      pfam05920
      Location:182221
      Homeobox_KN; Homeobox KN domain
    6. NM_173207.2NP_775299.1  homeobox protein TGIF1 isoform b

      See identical proteins and their annotated locations for NP_775299.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK291112, BC031268, HY041619
      Consensus CDS
      CCDS11832.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000483499.1, OTTHUMP00000162245, ENST00000618001.4, OTTHUMT00000254366
      Conserved Domains (1) summary
      pfam05920
      Location:67106
      Homeobox_KN; Homeobox KN domain
    7. NM_173208.2NP_775300.1  homeobox protein TGIF1 isoform c

      See identical proteins and their annotated locations for NP_775300.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes two alternate 5' exons, which result in a different 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (c) is shorter and has a distinct N-terminus, compared to isoform a. Variants 3, 4 and 10 encode the same isoform c.
      Source sequence(s)
      AI813434, AP001025, BC031268, X89750
      Consensus CDS
      CCDS11833.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000384133.2, OTTHUMP00000241897, ENST00000407501.6, OTTHUMT00000405493
      Conserved Domains (1) summary
      pfam05920
      Location:5392
      Homeobox_KN; Homeobox KN domain
    8. NM_173209.2NP_775301.1  homeobox protein TGIF1 isoform d

      See identical proteins and their annotated locations for NP_775301.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' terminal exon, which results in a different 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8, and 11 encode the same isoform d.
      Source sequence(s)
      AP001025, BC031268, DR007147
      Consensus CDS
      CCDS11835.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000384970.2, ENST00000405385.7
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain
    9. NM_173210.2NP_775302.1  homeobox protein TGIF1 isoform d

      See identical proteins and their annotated locations for NP_775302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' region, which results in a shorter 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8 and 11 encode the same isoform d.
      Source sequence(s)
      BC031268, BX952985, CN290028
      Consensus CDS
      CCDS11835.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000450025.1, OTTHUMP00000241900, ENST00000551541.5, OTTHUMT00000405496
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain
    10. NM_173211.1NP_775303.1  homeobox protein TGIF1 isoform d

      See identical proteins and their annotated locations for NP_775303.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate 5' terminal exon, which results in a different 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8 and 11 encode the same isoform d.
      Source sequence(s)
      BC031268, D82120
      Consensus CDS
      CCDS11835.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000383031.2, ENST00000400167.6
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain
    11. NM_174886.2NP_777480.1  homeobox protein TGIF1 isoform d

      See identical proteins and their annotated locations for NP_777480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) includes two alternate 5' exons, which result in a different 5' UTR and a downstream translation start codon, compared to variant 1. The resulting isoform (d) has a shorter N-terminus, compared to isoform a. Variants 5, 6, 7, 8, and 11 encode the same isoform d.
      Source sequence(s)
      AP001025, BC031268, CB996365
      Consensus CDS
      CCDS11835.1
      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000385206.1, ENST00000401449.5
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      3411927..3458412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025959.1XP_016881448.1  homeobox protein TGIF1 isoform X2

      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000448121.1, OTTHUMP00000241894, ENST00000549780.5, OTTHUMT00000405489
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain
    2. XM_017025958.1XP_016881447.1  homeobox protein TGIF1 isoform X1

      UniProtKB/Swiss-Prot
      Q15583
      Conserved Domains (1) summary
      pfam05920
      Location:5392
      Homeobox_KN; Homeobox KN domain
    3. XM_011525735.2XP_011524037.1  homeobox protein TGIF1 isoform X2

      See identical proteins and their annotated locations for XP_011524037.1

      UniProtKB/Swiss-Prot
      Q15583
      Related
      ENSP00000343969.5, OTTHUMP00000241901, ENST00000345133.9, OTTHUMT00000405497
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      3411321..3457803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center