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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]
TGIF1 (TGFB Induced Factor Homeobox 1) is a Protein Coding gene. Diseases associated with TGIF1 include Holoprosencephaly 4 and Semilobar Holoprosencephaly. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TGIF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 10764806 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IMP | 10764806 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 8537382 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
2 | Gene Expression |
.48
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3 | TGF-beta signaling pathway (KEGG) | ||
4 | SMAD Signaling Network |
SMAD Signaling Network
-
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5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | TAS | 8537382 |
GO:0010629 | negative regulation of gene expression | IEA | -- |
GO:0042493 | response to drug | IEA | -- |
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: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGIF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
TGIF1 30 |
|
||||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | TGIF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgif1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgif1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGIF1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TGIF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TGIF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TGIF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgif1 30 |
|
||
MGC75852 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | tgif-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgif1 30 31 |
|
OneToOne | |
wufb33g11 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13280 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | achi 31 |
|
ManyToMany | |
vis 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOS8 31 |
|
ManyToMany | |
CUP9 31 33 33 33 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
672771 | Benign: not provided | 3,447,963(+) | A/G | INTRON_VARIANT | |
672772 | Benign: not provided | 3,457,187(+) | T/G | INTRON_VARIANT | |
674961 | Benign: not provided | 3,447,873(+) | T/C | INTRON_VARIANT | |
674962 | Benign: not provided | 3,451,541(+) | GA/G | INTRON_VARIANT | |
675019 | Benign: not provided | 3,447,727(+) | C/T | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
holoprosencephaly 4 |
|
|
semilobar holoprosencephaly |
|
|
midline interhemispheric variant of holoprosencephaly |
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|
lobar holoprosencephaly |
|
|
microform holoprosencephaly |
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