ZEB1
Zinc finger E-box-binding homeobox 1
Also known as: AREB6, BZP, FECD6, NIL-2-A, PPCD3, TCF8, ZEB, ZEB1_HUMAN, Zfhep, Zfhx1a
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P37275
- Gene
- ZEB1
- Ensembl
- ENSG00000148516
- Chromosome
- 10
- Canonical length
- 1124 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1124 residues, UniProt reviewed canonical sequence.
>P37275|ZEB1
1 MADGPRCKRR KQANPRRNNV TNYNTVVETN SDSDDEDKLH IVEEESVTDA ADCEGVPEDD
61 LPTDQTVLPG RSSEREGNAK NCWEDDRKEG QEILGPEAQA DEAGCTVKDD ECESDAENEQ
121 NHDPNVEEFL QQQDTAVIFP EAPEEDQRQG TPEASGHDEN GTPDAFSQLL TCPYCDRGYK
181 RFTSLKEHIK YRHEKNEDNF SCSLCSYTFA YRTQLERHMT SHKSGRDQRH VTQSGCNRKF
241 KCTECGKAFK YKHHLKEHLR IHSGEKPYEC PNCKKRFSHS GSYSSHISSK KCISLIPVNG
301 RPRTGLKTSQ CSSPSLSASP GSPTRPQIRQ KIENKPLQEQ LSVNQIKTEP VDYEFKPIVV
361 ASGINCSTPL QNGVFTGGGP LQATSSPQGM VQAVVLPTVG LVSPISINLS DIQNVLKVAV
421 DGNVIRQVLE NNQANLASKE QETINASPIQ QGGHSVISAI SLPLVDQDGT TKIIINYSLE
481 QPSQLQVVPQ NLKKENPVAT NSCKSEKLPE DLTVKSEKDK SFEGGVNDST CLLCDDCPGD
541 INALPELKHY DLKQPTQPPP LPAAEAEKPE SSVSSATGDG NLSPSQPPLK NLLSLLKAYY
601 ALNAQPSAEE LSKIADSVNL PLDVVKKWFE KMQAGQISVQ SSEPSSPEPG KVNIPAKNND
661 QPQSANANEP QDSTVNLQSP LKMTNSPVLP VGSTTNGSRS STPSPSPLNL SSSRNTQGYL
721 YTAEGAQEEP QVEPLDLSLP KQQGELLERS TITSVYQNSV YSVQEEPLNL SCAKKEPQKD
781 SCVTDSEPVV NVIPPSANPI NIAIPTVTAQ LPTIVAIADQ NSVPCLRALA ANKQTILIPQ
841 VAYTYSTTVS PAVQEPPLKV IQPNGNQDER QDTSSEGVSN VEDQNDSDST PPKKKMRKTE
901 NGMYACDLCD KIFQKSSSLL RHKYEHTGKR PHECGICKKA FKHKHHLIEH MRLHSGEKPY
961 QCDKCGKRFS HSGSYSQHMN HRYSYCKREA EERDSTEQEE AGPEILSNEH VGARASPSQG
1021 DSDERESLTR EEDEDSEKEE EEEDKEMEEL QEEKECEKPQ GDEEEEEEEE EVEEEEVEEA
1081 ENEGEEAKTE GLMKDDRAES QASSLGQKVG ESSEQVSEEK TNEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against ZEB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 57 nTPM
Expression across tissuesHPA
Tissue
- tongue: 57 nTPM
- skeletal muscle: 51 nTPM
- colon: 47 nTPM
- blood vessel: 38 nTPM
- smooth muscle: 37 nTPM
- endometrium: 36 nTPM
Single-cell type
- endometrial stromal cells: 1,976 nCPM
- fibro-adipogenic progenitors: 1,444 nCPM
- oligodendrocyte progenitor cells: 1,229 nCPM
- thyrotrophs: 714 nCPM
- myonuclei: 637 nCPM
- somatotrophs: 636 nCPM
Immune cell
- neutrophil: 8.5 nTPM
- naive CD4 T-cell: 6.8 nTPM
- NK-cell: 6.6 nTPM
- eosinophil: 5.4 nTPM
- T-reg: 5 nTPM
- basophil: 4.9 nTPM
Brain region
- hypothalamus: 47 nTPM
- medulla oblongata: 43 nTPM
- midbrain: 39 nTPM
- thalamus: 37 nTPM
- white matter: 36 nTPM
- cerebral cortex: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ZEB1.
Disease | AllUniProt
Conditions ZEB1 is implicated in, by any mechanism.
- Corneal dystrophy, posterior polymorphous, 3 (PPCD3) MIM:609141
- Corneal dystrophy, Fuchs endothelial, 6 (FECD6) MIM:613270
Disease | GeneticClinVar
34 pathogenic / likely-pathogenic of 212 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Posterior polymorphous corneal dystrophy 3
- Corneal dystrophy, Fuchs endothelial, 6
- Corneal dystrophy
- Inborn genetic diseases
- Posterior polymorphous corneal dystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 1.6
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cartilage development
- cell differentiation
- cellular response to amino acid stimulus
- central nervous system development
- cochlea morphogenesis
- embryonic camera-type eye morphogenesis
- embryonic skeletal system morphogenesis
- keratinocyte proliferation
- negative regulation of DNA-templated transcription
- negative regulation of endothelial cell differentiation
- negative regulation of keratinocyte proliferation
- negative regulation of transcription by RNA polymerase II
- pattern specification process
- positive regulation of neuron differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of smooth muscle cell differentiation
- regulation of T cell differentiation in thymus
- regulation of transcription by RNA polymerase II
- regulation of transforming growth factor beta receptor signaling pathway
- semicircular canal morphogenesis
- regulation of mesenchymal cell proliferation
Molecular functions
- chromatin binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ZEB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ZEB1 as an antibody target. Whether an autoantibody or antibody against ZEB1 could matter depends on whether native ZEB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ZEB1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ZEB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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