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

Gene ID: 7050, updated on 2-Oct-2018

Summary

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]
Expression
Ubiquitous expression in urinary bladder (RPKM 9.0), gall bladder (RPKM 8.7) and 25 other tissues See more
Orthologs

Genomic context

See TGIF1 in Genome Data Viewer
Location:
18p11.31
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

Preferred Names
homeobox protein TGIF1
Names
5'-TG-3'-interacting factor 1
TALE homeobox TG-interacting factor
transforming growth factor-beta-induced factor

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 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
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