Reviewed,
UniProtKB/Swiss-Prot P37275 (ZEB1_HUMAN)
Last modified
June 16, 2009.
Version 93.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Zinc finger E-box-binding homeobox 1 Alternative name(s): Transcription factor 8 NIL-2-A zinc finger protein Negative regulator of IL2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1124 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Inhibits interleukin-2 (IL-2) gene expression. May be responsible for transcriptional repression of the IL-2 gene. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. |
| Subcellular location | |
| Tissue specificity | Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas. |
| Involvement in disease | Defects in ZEB1 are the cause of posterior polymorphous corneal dystrophy type 3 (PPCD3) [MIM:609141]. Posterior polymorphous corneal dystrophy (PPCD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Ref.7 |
| Sequence similarities | Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. Contains 7 C2H2-type zinc fingers. Contains 1 homeobox DNA-binding domain. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1124 | 1124 | Zinc finger E-box-binding homeobox 1 | PRO_0000047231 | |||||
Regions | |||||||||
| Zinc finger | 170 – 193 | 24 | C2H2-type 1 | ||||||
| Zinc finger | 200 – 222 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 240 – 262 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 268 – 292 | 25 | C2H2-type 4; atypical | ||||||
| DNA binding | 581 – 640 | 60 | Homeobox; atypical | ||||||
| Zinc finger | 904 – 926 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 932 – 954 | 23 | C2H2-type 6 | ||||||
| Zinc finger | 960 – 981 | 22 | C2H2-type 7; atypical | ||||||
| Compositional bias | 989 – 1124 | 136 | Glu-rich (acidic) | ||||||
Amino acid modifications | |||||||||
| Modified residue | 31 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 33 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 322 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 646 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 679 | 1 | Phosphoserine Ref.6 | ||||||
| Cross-link | 347 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.8 | |||||||
| Cross-link | 774 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.8 | |||||||
Natural variations | |||||||||
| Natural variant | 90 | 1 | G → R: dbSNP rs12217419. | VAR_052731 | |||||
| Natural variant | 553 | 1 | K → R: dbSNP rs35753967. | VAR_031824 | |||||
Experimental info | |||||||||
| Sequence conflict | 420 | 1 | V → I in AAA20602. Ref.2 | ||||||
| Sequence conflict | 609 | 1 | E → Q in M81699. Ref.5 | ||||||
| Sequence conflict | 654 | 1 | I → T in AAA20602. Ref.2 | ||||||
| Sequence conflict | 672 | 1 | D → H in M81699. Ref.5 | ||||||
| Sequence conflict | 681 | 1 | L → S in M81699. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Transcription factors positively and negatively regulating the Na,K-ATPase alpha 1 subunit gene." Watanabe Y., Kawakami K., Hirayama Y., Nagano K. J. Biochem. 114:849-855(1993) [PubMed: 8138542] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "A human zinc finger homeodomain protein homologous to the chicken delta-crystallin enhancer binding protein, delta EF1." Bachman N.J., Scarpulla R.C. Submitted (JUL-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "Identification of a zinc finger protein that inhibits IL-2 gene expression." Williams T.M., Moolten D., Burlein J., Romano J., Bhaerman R., Godillot A., Mellon M., Rauscher F.J. III, Kant J.A. Science 254:1791-1794(1991) [PubMed: 1840704] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 390-1124. |
| [6] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-679, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | "Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells." Krafchak C.M., Pawar H., Moroi S.E., Sugar A., Lichter P.R., Mackey D.A., Mian S., Nairus T., Elner V., Schteingart M.T., Downs C.A., Kijek T.G., Johnson J.M., Trager E.H., Rozsa F.W., Mandal M.N.A., Epstein M.P., Vollrath D. Richards J.E.Am. J. Hum. Genet. 77:694-708(2005) [PubMed: 16252232] [Abstract] Cited for: INVOLVEMENT IN PPCD3. |
| [8] | "Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin." Long J., Zuo D., Park M. J. Biol. Chem. 280:35477-35489(2005) [PubMed: 16061479] [Abstract] Cited for: SUMOYLATION AT LYS-347 AND LYS-774. |
| [9] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31 AND SER-33, MASS SPECTROMETRY. Tissue: Epithelium. |
| [10] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-322 AND SER-646, MASS SPECTROMETRY. |
| [11] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [12] | "Solution structure of the homeobox domain from human NIL-2-A zinc finger protein, transcription factor 8." RIKEN structural genomics initiative (RSGI) Submitted (APR-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 583-642. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D15050 mRNA. Translation: BAA03646.1. U12170 mRNA. Translation: AAA20602.1. AL158080 AL355148 Genomic DNA. Translation: CAI17320.1. AL161935 AL355148 Genomic DNA. Translation: CAH74132.1. AL117340 AL355148 Genomic DNA. Translation: CAI12550.1. AL355148 AL161935 Genomic DNA. Translation: CAI15108.1. CH471072 Genomic DNA. Translation: EAW85989.1. M81699 mRNA. No translation available. | |||||||||||||
| IPI | IPI00375505. | ||||||||||||
| PIR | JX0293. | ||||||||||||
| RefSeq | NP_110378.3. | ||||||||||||
| UniGene | Hs.124503 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P37275. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | P37275. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000148516. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 6935. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC10P031648. | ||||||||||||
| HGNC | HGNC:11642. ZEB1. | ||||||||||||
| MIM | 189909. gene. 609141. phenotype. | ||||||||||||
| Orphanet | 34533. Corneal dystrophy. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | P37275. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P37275. | ||||||||||||
| Bgee | P37275. | ||||||||||||
| CleanEx | HS_ZEB1. | ||||||||||||
| GermOnline | ENSG00000148516. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 2 hits. | ||||||||||||
| Pfam | PF00096. zf-C2H2. 7 hits. [Graphical view] | ||||||||||||
| ProDom | PD000010. Homeobox. 1 hit. PD000003. Znf_C2H2. 2 hits. [Graphical view] [Entries sharing at least one domain] | ||||||||||||
| SMART | SM00389. HOX. 1 hit. SM00355. ZnF_C2H2. 7 hits. [Graphical view] | ||||||||||||
| PROSITE | PS00027. HOMEOBOX_1. False negative. PS50071. HOMEOBOX_2. False negative. PS00028. ZINC_FINGER_C2H2_1. 5 hits. PS50157. ZINC_FINGER_C2H2_2. 6 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 27137. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | ZEB1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P37275 Secondary accession number(s): Q12924, Q13800, Q5T968 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


