UniProtKB - Q15583 (TGIF1_HUMAN)
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Protein
Homeobox protein TGIF1
Gene
TGIF1
Organism
Homo sapiens (Human)
Status
Functioni
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.
Caution
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 164 – 226 | Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST | 63 |
GO - Molecular functioni
- co-SMAD binding Source: Ensembl
- DNA binding transcription factor activity Source: ProtInc
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
- transcription corepressor activity Source: ProtInc
GO - Biological processi
- cellular response to growth factor stimulus Source: Ensembl
- multicellular organism development Source: ProtInc
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- response to drug Source: Ensembl
- transcription, DNA-templated Source: UniProtKB-KW
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
SignaLinki | Q15583 |
SIGNORi | Q15583 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein TGIF1Alternative name(s): 5'-TG-3'-interacting factor 1 |
Gene namesi | Name:TGIF1 Synonyms:TGIF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177426.20 |
HGNCi | HGNC:11776 TGIF1 |
MIMi | 602630 gene |
neXtProti | NX_Q15583 |
Pathology & Biotechi
Involvement in diseasei
Holoprosencephaly 4 (HPE4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:142946Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009961 | 157 | S → C in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909066Ensembl. | 1 | |
Natural variantiVAR_009962 | 192 | P → R in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909067Ensembl. | 1 | |
Natural variantiVAR_023803 | 236 | Q → L in HPE4. 1 PublicationCorresponds to variant dbSNP:rs28939693Ensembl. | 1 | |
Natural variantiVAR_009963 | 280 | T → A in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909068Ensembl. | 1 | |
Natural variantiVAR_009964 | 291 | S → F in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909069Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, HoloprosencephalyOrganism-specific databases
DisGeNETi | 7050 |
GeneReviewsi | TGIF1 |
MalaCardsi | TGIF1 |
MIMi | 142946 phenotype |
OpenTargetsi | ENSG00000177426 |
Orphaneti | 93925 Alobar holoprosencephaly 93924 Lobar holoprosencephaly 280200 Microform holoprosencephaly 93926 Midline interhemispheric variant of holoprosencephaly 220386 Semilobar holoprosencephaly 280195 Septopreoptic holoprosencephaly |
PharmGKBi | PA36489 |
Polymorphism and mutation databases
BioMutai | TGIF1 |
DMDMi | 215274200 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049318 | 1 – 401 | Homeobox protein TGIF1Add BLAST | 401 |
Proteomic databases
EPDi | Q15583 |
MaxQBi | Q15583 |
PaxDbi | Q15583 |
PeptideAtlasi | Q15583 |
PRIDEi | Q15583 |
PTM databases
iPTMneti | Q15583 |
PhosphoSitePlusi | Q15583 |
Expressioni
Gene expression databases
Bgeei | ENSG00000177426 |
CleanExi | HS_TGIF1 |
ExpressionAtlasi | Q15583 baseline and differential |
Genevisiblei | Q15583 HS |
Organism-specific databases
HPAi | HPA062160 |
Interactioni
Subunit structurei
Interacts with CTBP, SMAD2, SMAD3 and HDAC1.
Binary interactionsi
GO - Molecular functioni
- co-SMAD binding Source: Ensembl
Protein-protein interaction databases
BioGridi | 11290822 interactors. |
CORUMi | Q15583 |
ELMi | Q15583 |
IntActi | Q15583 17 interactors. |
MINTi | Q15583 |
STRINGi | 9606.ENSP00000327959 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 173 – 185 | Combined sources | 13 | |
Helixi | 188 – 190 | Combined sources | 3 | |
Helixi | 194 – 203 | Combined sources | 10 | |
Beta strandi | 204 – 206 | Combined sources | 3 | |
Helixi | 208 – 230 | Combined sources | 23 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2LK2 | NMR | - | A | 171-248 | [»] | |
ProteinModelPortali | Q15583 | |||||
SMRi | Q15583 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15583 |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 153 – 157 | CTBP-binding motif | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 165 – 168 | Poly-Arg | 4 |
Sequence similaritiesi
Belongs to the TALE/TGIF homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0773 Eukaryota ENOG410XPMQ LUCA |
GeneTreei | ENSGT00550000074260 |
HOGENOMi | HOG000232039 |
HOVERGENi | HBG001143 |
InParanoidi | Q15583 |
KOi | K19383 |
OMAi | IAANNFT |
OrthoDBi | EOG091G0GOO |
PhylomeDBi | Q15583 |
TreeFami | TF318093 |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR001356 Homeobox_dom IPR008422 Homeobox_KN_domain |
Pfami | View protein in Pfam PF05920 Homeobox_KN, 1 hit |
SMARTi | View protein in SMART SM00389 HOX, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS50071 HOMEOBOX_2, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q15583-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MVLAQSRVSA GVGSPHCSGS GGGGSDSFPW PASHPGNPQC SFSTAFLASP
60 70 80 90 100
RLSRGTLAYL PPAPWSSLAT PSALLGSSCA PPPPPARCPQ PRALSPELGT
110 120 130 140 150
KAGPRRPHRW ELPRSPSQGA QGPAPRRRLL ETMKGIVAAS GSETEDEDSM
160 170 180 190 200
DIPLDLSSSA GSGKRRRRGN LPKESVQILR DWLYEHRYNA YPSEQEKALL
210 220 230 240 250
SQQTHLSTLQ VCNWFINARR RLLPDMLRKD GKDPNQFTIS RRGAKISETS
260 270 280 290 300
SVESVMGIKN FMPALEETPF HSCTAGPNPT LGRPLSPKPS SPGSVLARPS
310 320 330 340 350
VICHTTVTAL KDVPFSLCQS VGVGQNTDIQ QIAAKNFTDT SLMYPEDTCK
360 370 380 390 400
SGPSTNTQSG LFNTPPPTPP DLNQDFSGFQ LLVDVALKRA AEMELQAKLT
A
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 96 | P → Q in AAH31268 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009961 | 157 | S → C in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909066Ensembl. | 1 | |
Natural variantiVAR_009962 | 192 | P → R in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909067Ensembl. | 1 | |
Natural variantiVAR_023803 | 236 | Q → L in HPE4. 1 PublicationCorresponds to variant dbSNP:rs28939693Ensembl. | 1 | |
Natural variantiVAR_009963 | 280 | T → A in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909068Ensembl. | 1 | |
Natural variantiVAR_047363 | 289 | P → S. Corresponds to variant dbSNP:rs11571512Ensembl. | 1 | |
Natural variantiVAR_009964 | 291 | S → F in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909069Ensembl. | 1 | |
Natural variantiVAR_020151 | 292 | P → L. Corresponds to variant dbSNP:rs2229333Ensembl. | 1 | |
Natural variantiVAR_061268 | 292 | P → S2 PublicationsCorresponds to variant dbSNP:rs4468717Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046848 | 1 – 149 | Missing in isoform 4. 1 PublicationAdd BLAST | 149 | |
Alternative sequenceiVSP_013020 | 1 – 129 | Missing in isoform 2. 4 PublicationsAdd BLAST | 129 | |
Alternative sequenceiVSP_043108 | 1 – 115 | Missing in isoform 3. 1 PublicationAdd BLAST | 115 | |
Alternative sequenceiVSP_043109 | 116 – 134 | PSQGA…LETMK → MTCSGKSCALARSSLTSSQ in isoform 3. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_013021 | 130 – 133 | LETM → MKGK in isoform 2. 4 Publications | 4 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | TGIF1_HUMAN | |
Accessioni | Q15583Primary (citable) accession number: Q15583 Secondary accession number(s): A6NE42 Q9NRS0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 25, 2008 | |
Last modified: | March 28, 2018 | |
This is version 190 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |