Endometriosis Knowledgebase

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Gene id

6935

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (81770437: 81699005) Exons: 20 NC_000007.14

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 endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

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: 1,24,074

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
Pfam:	PF00046 PF05605
CDD:	cd00086
PDB:	2E19
PDBsum:	2E19
MINT:
STRING:	ENSP00000354487;

Other Databases

GeneCards: ZEB1; Malacards: ZEB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0007389	pattern specification pro cess	IEA	biological_process
GO:0007417	central nervous system de velopment	IEA	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010464	regulation of mesenchymal cell proliferation	IEA	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IEA	biological_process
GO:0030857	negative regulation of ep ithelial cell differentia tion	IEA	biological_process
GO:0033081	regulation of T cell diff erentiation in thymus	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological_process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological_process
GO:0048752	semicircular canal morpho genesis	IEA	biological_process
GO:0051150	regulation of smooth musc le cell differentiation	IEA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0070888	E-box binding	ISS	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0090103	cochlea morphogenesis	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IEA	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0007389	pattern specification pro cess	IEA	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007417	central nervous system de velopment	IEA	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010464	regulation of mesenchymal cell proliferation	IEA	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030857	negative regulation of ep ithelial cell differentia tion	IEA	biological_process
GO:0033081	regulation of T cell diff erentiation in thymus	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048513	animal organ development	IEA	biological_process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological_process
GO:0048598	embryonic morphogenesis	IEA	biological_process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological_process
GO:0048752	semicircular canal morpho genesis	IEA	biological_process
GO:0051150	regulation of smooth musc le cell differentiation	IEA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0070888	E-box binding	IEA	molecular_function
GO:0070888	E-box binding	ISS	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0090103	cochlea morphogenesis	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	TAS	molecular_function
GO:0003714	transcription corepressor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0008283	cell proliferation	TAS	biological_process
GO:0045666	positive regulation of ne uron differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0070888	E-box binding	ISS	molecular_function

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16385451
Cardiac stroke	PMID: 18984674
Corneal Dystrophies	PMID: 17935237
Endometriosis	PMID: 28597474
Fuchs' Endothelial Dystrophy	PMID: 18172091
Endometriosis	INFBASE28597474

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28597474	Endometrio sis			23 (13 endometr iosis patients, 10 control wom en without endo metriosis)			Show abstract