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UniProtKB - Q15583 (TGIF1_HUMAN)

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Protein

Homeobox protein TGIF1

Gene

TGIF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi164 – 226Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST63

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
SignaLinkiQ15583
SIGNORiQ15583

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein TGIF1
Alternative name(s):
5'-TG-3'-interacting factor 1
Gene namesi
Name:TGIF1
Synonyms:TGIF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000177426.20
HGNCiHGNC:11776 TGIF1
MIMi602630 gene
neXtProtiNX_Q15583

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

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:142946
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009961157S → C in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909066EnsemblClinVar.1
Natural variantiVAR_009962192P → R in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909067EnsemblClinVar.1
Natural variantiVAR_023803236Q → L in HPE4. 1 PublicationCorresponds to variant dbSNP:rs28939693Ensembl.1
Natural variantiVAR_009963280T → A in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909068EnsemblClinVar.1
Natural variantiVAR_009964291S → F in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909069EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

DisGeNETi7050
GeneReviewsiTGIF1
MalaCardsiTGIF1
MIMi142946 phenotype
OpenTargetsiENSG00000177426
Orphaneti93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA36489

Polymorphism and mutation databases

BioMutaiTGIF1
DMDMi215274200

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000493181 – 401Homeobox protein TGIF1Add BLAST401

Proteomic databases

EPDiQ15583
MaxQBiQ15583
PaxDbiQ15583
PeptideAtlasiQ15583
PRIDEiQ15583

PTM databases

iPTMnetiQ15583
PhosphoSitePlusiQ15583

Expressioni

Gene expression databases

BgeeiENSG00000177426
CleanExiHS_TGIF1
ExpressionAtlasiQ15583 baseline and differential
GenevisibleiQ15583 HS

Organism-specific databases

HPAiHPA062160

Interactioni

Subunit structurei

Interacts with CTBP, SMAD2, SMAD3 and HDAC1.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi112908, 22 interactors
CORUMiQ15583
ELMiQ15583
IntActiQ15583, 14 interactors
MINTiQ15583
STRINGi9606.ENSP00000327959

Structurei

Secondary structure

1401
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi173 – 185Combined sources13
Helixi188 – 190Combined sources3
Helixi194 – 203Combined sources10
Beta strandi204 – 206Combined sources3
Helixi208 – 230Combined sources23

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LK2NMR-A171-248[»]
ProteinModelPortaliQ15583
SMRiQ15583
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15583

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi153 – 157CTBP-binding motif5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi165 – 168Poly-Arg4

Sequence similaritiesi

Belongs to the TALE/TGIF homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0773 Eukaryota
ENOG410XPMQ LUCA
GeneTreeiENSGT00550000074260
HOGENOMiHOG000232039
HOVERGENiHBG001143
InParanoidiQ15583
KOiK19383
OMAiIAANNFT
OrthoDBiEOG091G0GOO
PhylomeDBiQ15583
TreeFamiTF318093

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR008422 Homeobox_KN_domain
PfamiView protein in Pfam
PF05920 Homeobox_KN, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative 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.

« Hide

        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
Length:401
Mass (Da):43,013
Last modified:November 25, 2008 - v3
Checksum:i4D9C76AFB37A29F0
GO
Isoform 2 (identifier: Q15583-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-129: Missing.
     130-133: LETM → MKGK

Show »
Length:272
Mass (Da):29,737
Checksum:i948D1F689996E84E
GO
Isoform 3 (identifier: Q15583-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.
     116-134: PSQGAQGPAPRRRLLETMK → MTCSGKSCALARSSLTSSQ

Show »
Length:286
Mass (Da):31,064
Checksum:i39EA173EECBFD391
GO
Isoform 4 (identifier: Q15583-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-149: Missing.

Note: No experimental confirmation available.
Show »
Length:252
Mass (Da):27,715
Checksum:iA3426BEBB9753C87
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96P → Q in AAH31268 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009961157S → C in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909066EnsemblClinVar.1
Natural variantiVAR_009962192P → R in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909067EnsemblClinVar.1
Natural variantiVAR_023803236Q → L in HPE4. 1 PublicationCorresponds to variant dbSNP:rs28939693Ensembl.1
Natural variantiVAR_009963280T → A in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909068EnsemblClinVar.1
Natural variantiVAR_047363289P → S. Corresponds to variant dbSNP:rs11571512Ensembl.1
Natural variantiVAR_009964291S → F in HPE4. 1 PublicationCorresponds to variant dbSNP:rs121909069EnsemblClinVar.1
Natural variantiVAR_020151292P → L. Corresponds to variant dbSNP:rs2229333Ensembl.1
Natural variantiVAR_061268292P → S2 PublicationsCorresponds to variant dbSNP:rs4468717Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468481 – 149Missing in isoform 4. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_0130201 – 129Missing in isoform 2. 4 PublicationsAdd BLAST129
Alternative sequenceiVSP_0431081 – 115Missing in isoform 3. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_043109116 – 134PSQGA…LETMK → MTCSGKSCALARSSLTSSQ in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_013021130 – 133LETM → MKGK in isoform 2. 4 Publications4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X89750 mRNA Translation: CAA61897.1
AF179900 mRNA Translation: AAF81643.1
CR450333 mRNA Translation: CAG29329.1
AK291112 mRNA Translation: BAF83801.1
AP001025 Genomic DNA No translation available.
CH471113 Genomic DNA Translation: EAX01672.1
BC000814 mRNA Translation: AAH00814.1
BC031268 mRNA Translation: AAH31268.1
BE296707 mRNA No translation available.
CCDSiCCDS11832.1 [Q15583-3]
CCDS11833.1 [Q15583-2]
CCDS11834.1 [Q15583-1]
CCDS11835.1 [Q15583-4]
RefSeqiNP_001265611.1, NM_001278682.1
NP_001265613.1, NM_001278684.1 [Q15583-2]
NP_001265615.1, NM_001278686.1 [Q15583-4]
NP_003235.1, NM_003244.3 [Q15583-2]
NP_733796.2, NM_170695.3 [Q15583-1]
NP_775299.1, NM_173207.2 [Q15583-3]
NP_775300.1, NM_173208.2 [Q15583-2]
NP_775301.1, NM_173209.2 [Q15583-4]
NP_775302.1, NM_173210.2 [Q15583-4]
NP_775303.1, NM_173211.1 [Q15583-4]
NP_777480.1, NM_174886.2 [Q15583-4]
XP_011524037.1, XM_011525735.2 [Q15583-4]
XP_016881447.1, XM_017025958.1 [Q15583-2]
XP_016881448.1, XM_017025959.1 [Q15583-4]
UniGeneiHs.373550

Genome annotation databases

EnsembliENST00000330513; ENSP00000327959; ENSG00000177426 [Q15583-1]
ENST00000343820; ENSP00000339631; ENSG00000177426 [Q15583-2]
ENST00000345133; ENSP00000343969; ENSG00000177426 [Q15583-4]
ENST00000400167; ENSP00000383031; ENSG00000177426 [Q15583-4]
ENST00000401449; ENSP00000385206; ENSG00000177426 [Q15583-4]
ENST00000405385; ENSP00000384970; ENSG00000177426 [Q15583-4]
ENST00000407501; ENSP00000384133; ENSG00000177426 [Q15583-2]
ENST00000472042; ENSP00000449501; ENSG00000177426 [Q15583-4]
ENST00000548489; ENSP00000447747; ENSG00000177426 [Q15583-4]
ENST00000551541; ENSP00000450025; ENSG00000177426 [Q15583-4]
ENST00000618001; ENSP00000483499; ENSG00000177426 [Q15583-3]
GeneIDi7050
KEGGihsa:7050
UCSCiuc002klu.5 human [Q15583-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTGIF1_HUMAN
AccessioniPrimary (citable) accession number: Q15583
Secondary accession number(s): A6NE42
, A6NLU7, F8VZB6, Q6ICR0, Q8N5X9, Q9NRS0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: May 23, 2018
This is version 191 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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