ENSG00000148516


Homo sapiens

Features
Gene ID: ENSG00000148516
  
Biological name :ZEB1
  
Synonyms : P37275 / ZEB1 / zinc finger E-box binding homeobox 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: p11.22
Gene start: 31318495
Gene end: 31529814
  
Corresponding Affymetrix probe sets: 210875_s_at (Human Genome U133 Plus 2.0 Array)   212758_s_at (Human Genome U133 Plus 2.0 Array)   212764_at (Human Genome U133 Plus 2.0 Array)   239952_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453970
Ensembl peptide - ENSP00000453559
Ensembl peptide - ENSP00000453674
Ensembl peptide - ENSP00000319248
Ensembl peptide - ENSP00000354487
Ensembl peptide - ENSP00000391612
Ensembl peptide - ENSP00000405958
Ensembl peptide - ENSP00000415961
Ensembl peptide - ENSP00000444891
Ensembl peptide - ENSP00000452787
NCBI entrez gene - 6935     See in Manteia.
OMIM - 189909
RefSeq - NM_001323645
RefSeq - NM_001128128
RefSeq - NM_001174093
RefSeq - NM_001174094
RefSeq - NM_001174095
RefSeq - NM_001174096
RefSeq - NM_001323641
RefSeq - NM_001323642
RefSeq - NM_001323643
RefSeq - NM_001323644
RefSeq - NM_001323646
RefSeq - NM_001323647
RefSeq - NM_001323648
RefSeq - NM_001323649
RefSeq - NM_001323650
RefSeq - NM_001323651
RefSeq - NM_001323652
RefSeq - NM_001323653
RefSeq - NM_001323654
RefSeq - NM_001323655
RefSeq - NM_001323656
RefSeq - NM_001323657
RefSeq - NM_001323658
RefSeq - NM_001323659
RefSeq - NM_001323660
RefSeq - NM_001323661
RefSeq - NM_001323662
RefSeq - NM_001323663
RefSeq - NM_001323664
RefSeq - NM_001323665
RefSeq - NM_001323666
RefSeq - NM_001323671
RefSeq - NM_001323672
RefSeq - NM_001323673
RefSeq - NM_001323674
RefSeq - NM_001323675
RefSeq - NM_001323676
RefSeq - NM_001323677
RefSeq - NM_001323678
RefSeq - NM_030751
RefSeq - XM_006717498
RefSeq - XM_011519643
RefSeq - XM_017016597
RefSeq - XM_017016598
RefSeq - XM_017016599
RefSeq - XM_017016601
RefSeq - XM_017016603
RefSeq Peptide - NP_001167564
RefSeq Peptide - NP_001310604
RefSeq Peptide - NP_001310605
RefSeq Peptide - NP_001310606
RefSeq Peptide - NP_001310607
RefSeq Peptide - NP_110378
RefSeq Peptide - NP_001121600
RefSeq Peptide - NP_001167565
RefSeq Peptide - NP_001167566
RefSeq Peptide - NP_001167567
RefSeq Peptide - NP_001310570
RefSeq Peptide - NP_001310571
RefSeq Peptide - NP_001310572
RefSeq Peptide - NP_001310573
RefSeq Peptide - NP_001310574
RefSeq Peptide - NP_001310575
RefSeq Peptide - NP_001310576
RefSeq Peptide - NP_001310577
RefSeq Peptide - NP_001310578
RefSeq Peptide - NP_001310579
RefSeq Peptide - NP_001310580
RefSeq Peptide - NP_001310581
RefSeq Peptide - NP_001310582
RefSeq Peptide - NP_001310583
RefSeq Peptide - NP_001310584
RefSeq Peptide - NP_001310585
RefSeq Peptide - NP_001310586
RefSeq Peptide - NP_001310587
RefSeq Peptide - NP_001310588
RefSeq Peptide - NP_001310589
RefSeq Peptide - NP_001310590
RefSeq Peptide - NP_001310591
RefSeq Peptide - NP_001310592
RefSeq Peptide - NP_001310593
RefSeq Peptide - NP_001310594
RefSeq Peptide - NP_001310595
RefSeq Peptide - NP_001310600
RefSeq Peptide - NP_001310601
RefSeq Peptide - NP_001310602
RefSeq Peptide - NP_001310603
swissprot - H0YMD3
swissprot - H0YMN2
swissprot - H0YND9
swissprot - F6TDF5
swissprot - F6U0D0
swissprot - P37275
Ensembl - ENSG00000148516
  
Related genetic diseases (OMIM): 609141 - Corneal dystrophy, posterior polymorphous, 3, 609141
  613270 - Corneal dystrophy, Fuchs endothelial, 6, 613270

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
 zeb1aENSDARG00000016788Danio rerio
 zeb1bENSDARG00000013207Danio rerio
 ZEB1ENSGALG00000007260Gallus gallus
 Zeb1ENSMUSG00000024238Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ZEB2 / O60315 / zinc finger E-box binding homeobox 2ENSG0000016955446
Q6AW86 / ZNF324B / zinc finger protein 324BENSG000002494719
O75467 / ZNF324 / zinc finger protein 324ENSG000000838129


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR008598  Drought induced 19 protein type, zinc-binding domain
 IPR009057  Homeobox-like domain superfamily
 IPR013087  Zinc finger C2H2-type
 IPR026939  At2g23090-like
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006955 immune response TAS
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007417 central nervous system development IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010464 regulation of mesenchymal cell proliferation IEA
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030857 negative regulation of epithelial cell differentiation IEA
 biological_processGO:0033081 regulation of T cell differentiation in thymus IEA
 biological_processGO:0045602 negative regulation of endothelial cell differentiation IMP
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048513 animal organ development IEA
 biological_processGO:0048596 embryonic camera-type eye morphogenesis IEA
 biological_processGO:0048598 embryonic morphogenesis IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0048752 semicircular canal morphogenesis IEA
 biological_processGO:0051150 regulation of smooth muscle cell differentiation IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IEA
 biological_processGO:0090103 cochlea morphogenesis IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
Interleukin-4 and Interleukin-13 signaling


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:0000023 Inguinal hernia 
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 HP:0001131 Corneal dystrophy 
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 HP:0012038 Corneal guttata "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet s membrane. The presence of focal thickenings of Descemet s membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, pmid:10611102, pmid:11222329]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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