• Gene id: 6935

Gene Summary

• Gene Symbol: ZEB1   Gene   UCSC   Ensembl
• Aliases: AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP, ZFHX1A
• Gene name: zinc finger E-box binding homeobox 1
• Alternate names: zinc finger E-box-binding homeobox 1, delta-crystallin enhancer binding factor 1, negative regulator of IL2, posterior polymorphous corneal dystrophy 3, transcription factor 8 (represses interleukin 2 expression), zinc finger homeodomain enhancer-binding prote,
• Gene location: 10p11.22 (31318416: 31529813)     Exons: 20     NC_000010.11
• Gene summary(Entrez): This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs
• OMIM: 189909

Protein Summary

• Protein general information: P37275  
  • Name: Zinc finger E box binding homeobox 1 (NIL 2 A zinc finger protein) (Negative regulator of IL2) (Transcription factor 8) (TCF 8)
  • Length: 1124  
  • Mass: 124074
  • Tissue specificity: Colocalizes with SMARCA4/BRG1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed
• Sequence:

  MADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSER
  EGNAKNCWEDDRKEGQEILGPEAQADEAGCTVKDDECESDAENEQNHDPNVEEFLQQQDTAVIFPEAPEEDQRQG
  TPEASGHDENGTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSG
  RDQRHVTQSGCNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNG
  RPRTGLKTSQCSSPSLSASPGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVF
  TGGGPLQATSSPQGMVQAVVLPTVGLVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANLASKEQETINASPIQ
  QGGHSVISAISLPLVDQDGTTKIIINYSLEQPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGG
  VNDSTCLLCDDCPGDINALPELKHYDLKQPTQPPPLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYY
  ALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISVQSSEPSSPEPGKVNIPAKNNDQPQSANANEPQDSTV
  NLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGYLYTAEGAQEEPQVEPLDLSLPKQQGELLERS
  TITSVYQNSVYSVQEEPLNLSCAKKEPQKDSCVTDSEPVVNVIPPSANPINIAIPTVTAQLPTIVAIADQNSVPC
  LRALAANKQTILIPQVAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVSNVEDQNDSDSTPPKKKMRKTE
  NGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKPYQCDKCGKRFSHSGSY
  SQHMNHRYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQGDSDERESLTREEDEDSEKEEEEEDKEMEEL
  QEEKECEKPQGDEEEEEEEEEVEEEEVEEAENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEEKTNEA

• Structural information:
  • Interpro: IPR008598  IPR009057  IPR001356  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • CDD: cd00086
  • PDB: 2000 0000 0000 0000 0000
  • PDBsum: 2000 0000 0000 0000 0000
  • STRING: ENSP00000354487
• Other Databases: GeneCards:  ZEB1  Malacards:  ZEB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0070888	E-box binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0048513	animal organ development	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0010464	regulation of mesenchymal cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0051150	regulation of smooth muscle cell differentiation	IEA	biological process
GO:0048752	semicircular canal morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0033081	regulation of T cell differentiation in thymus	IEA	biological process
GO:0030857	negative regulation of epithelial cell differentiation	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045602	negative regulation of endothelial cell differentiation	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05215	Prostate cancer

Diseases

Associated diseases	References
Fuchs corneal dystrophy	KEGG:H00960
Posterior polymorphous corneal dystrophy	KEGG:H00961
Fuchs corneal dystrophy	KEGG:H00960
Posterior polymorphous corneal dystrophy	KEGG:H00961
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq