ENSG00000177426


Homo sapiens

Features
Gene ID: ENSG00000177426
  
Biological name :TGIF1
  
Synonyms : Q15583 / TGFB induced factor homeobox 1 / TGIF1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: p11.31
Gene start: 3411608
Gene end: 3459978
  
Corresponding Affymetrix probe sets: 1566901_at (Human Genome U133 Plus 2.0 Array)   203313_s_at (Human Genome U133 Plus 2.0 Array)   244858_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483499
Ensembl peptide - ENSP00000450025
Ensembl peptide - ENSP00000462285
Ensembl peptide - ENSP00000327959
Ensembl peptide - ENSP00000339631
Ensembl peptide - ENSP00000343969
Ensembl peptide - ENSP00000383031
Ensembl peptide - ENSP00000384133
Ensembl peptide - ENSP00000384970
Ensembl peptide - ENSP00000385206
Ensembl peptide - ENSP00000446838
Ensembl peptide - ENSP00000446944
Ensembl peptide - ENSP00000447747
Ensembl peptide - ENSP00000448121
Ensembl peptide - ENSP00000448934
Ensembl peptide - ENSP00000449287
Ensembl peptide - ENSP00000449501
Ensembl peptide - ENSP00000449531
Ensembl peptide - ENSP00000449580
Ensembl peptide - ENSP00000449722
Ensembl peptide - ENSP00000449973
NCBI entrez gene - 7050     See in Manteia.
OMIM - 602630
RefSeq - NM_003244
RefSeq - NM_001278682
RefSeq - NM_001278684
RefSeq - NM_001278686
RefSeq - NM_170695
RefSeq - NM_173207
RefSeq - NM_173208
RefSeq - NM_173209
RefSeq - NM_173210
RefSeq - NM_173211
RefSeq - NM_174886
RefSeq - XM_011525735
RefSeq - XM_017025958
RefSeq - XM_017025959
RefSeq Peptide - NP_775303
RefSeq Peptide - NP_777480
RefSeq Peptide - NP_775300
RefSeq Peptide - NP_001265611
RefSeq Peptide - NP_001265613
RefSeq Peptide - NP_775301
RefSeq Peptide - NP_775302
RefSeq Peptide - NP_001265615
RefSeq Peptide - NP_003235
RefSeq Peptide - NP_733796
RefSeq Peptide - NP_775299
swissprot - F8VUY0
swissprot - Q15583
swissprot - F8VVS9
swissprot - F8VW34
swissprot - F8VWK5
swissprot - F8VX54
swissprot - F8VXG3
swissprot - F8VYL4
swissprot - F8VZH2
swissprot - F8W1J9
swissprot - J3KS32
Ensembl - ENSG00000177426
  
Related genetic diseases (OMIM): 142946 - Holoprosencephaly 4, 142946

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tgif1ENSDARG00000059337Danio rerio
 TGIF1ENSGALG00000014795Gallus gallus
 Tgif1ENSMUSG00000047407Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TGIF2 / Q9GZN2 / TGFB induced factor homeobox 2ENSG0000011870729
Q8IUE1 / TGIF2LX / TGFB induced factor homeobox 2 like, X-linkedENSG0000015377920
MEIS2 / O14770 / Meis homeobox 2ENSG0000013413819
MEIS3 / Q99687 / Meis homeobox 3ENSG0000010541917
PKNOX2 / Q96KN3 / PBX/knotted 1 homeobox 2ENSG0000016549517
MEIS1 / O00470 / Meis homeobox 1ENSG0000014399516
P55347 / PKNOX1 / PBX/knotted 1 homeobox 1ENSG0000016019916
Q8IUE0 / TGIF2LY / TGFB induced factor homeobox 2 like, Y-linkedENSG0000017667915


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR008422  Homeobox KN domain
 IPR009057  Homeobox-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0070410 co-SMAD binding IEA


Pathways (from Reactome)
Pathway description
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000161 Median cleft lip "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." [HPO:curators]
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 HP:0000437 Flat nasal tip 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000601 Hypotelorism 
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 HP:0002507 Semilobar holoprosencephaly "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe]
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 HP:0005273 Absent nasal septal cartilage 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0008501 Median cleft lip/palate "Cleft lip or palate affecting the midline region of the palate." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000175387 SMAD2 / Q15796 / SMAD family member 2  / reaction / complex
 ENSG00000141646 SMAD4 / Q13485 / SMAD family member 4  / reaction / complex
 ENSG00000166949 SMAD3 / P84022 / SMAD family member 3  / reaction / complex
 ENSG00000116478 HDAC1 / Q13547 / histone deacetylase 1  / complex / reaction






 

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