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Entry version 198 (05 Jun 2019)
Sequence version 2 (15 Jul 1999)
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Protein

Zinc finger E-box-binding homeobox 1

Gene

ZEB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri170 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri200 – 222C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri240 – 262C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri268 – 292C2H2-type 4; atypicalPROSITE-ProRule annotationAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi581 – 640Homeobox; atypicalAdd BLAST60
Zinc fingeri904 – 926C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri932 – 954C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri960 – 981C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST22

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P37275

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P37275

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger E-box-binding homeobox 1
Alternative name(s):
NIL-2-A zinc finger protein
Negative regulator of IL2
Transcription factor 8
Short name:
TCF-8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZEB1
Synonyms:AREB6, TCF8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11642 ZEB1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
189909 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P37275

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Corneal dystrophy, posterior polymorphous, 3 (PPCD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
Related information in OMIM
Corneal dystrophy, Fuchs endothelial, 6 (FECD6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06375978N → T in FECD6; no effect on protein expression; no effect on nuclear localization. 3 PublicationsCorresponds to variant dbSNP:rs80194531EnsemblClinVar.1
Natural variantiVAR_072898640Q → H in FECD6; down-regulation of several collagen genes expression. 1 PublicationCorresponds to variant dbSNP:rs779148597Ensembl.1
Natural variantiVAR_063760649P → A in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs781750314Ensembl.1
Natural variantiVAR_072899696N → S in FECD6; no effect on protein expression; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs567252241Ensembl.1
Natural variantiVAR_063761810Q → P in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs199944415Ensembl.1
Natural variantiVAR_063762840Q → P in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs118020901EnsemblClinVar.1
Natural variantiVAR_072900905A → G in FECD6; no effect on protein expression; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs78449005Ensembl.1
Natural variantiVAR_063763905A → T in FECD6. 1 Publication1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6935

MalaCards human disease database

More...
MalaCardsi
ZEB1
MIMi609141 phenotype
613270 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148516

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98974 Fuchs endothelial corneal dystrophy
98973 Posterior polymorphous corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162409589

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ZEB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6166575

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472311 – 1124Zinc finger E-box-binding homeobox 1Add BLAST1124

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei31PhosphoserineBy similarity1
Modified residuei33PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki186Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki195Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki307Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei313PhosphoserineBy similarity1
Modified residuei322PhosphoserineCombined sources1
Cross-linki331Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki347Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki347Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki439Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki493Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki504Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki515Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki548Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki553Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei642PhosphoserineCombined sources1
Modified residuei679PhosphoserineCombined sources1
Modified residuei686PhosphoserineBy similarity1
Modified residuei693PhosphoserineBy similarity1
Modified residuei700PhosphoserineBy similarity1
Modified residuei702PhosphothreonineCombined sources1
Modified residuei704PhosphoserineBy similarity1
Cross-linki774Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki774Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P37275

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P37275

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P37275

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P37275

PeptideAtlas

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PeptideAtlasi
P37275

PRoteomics IDEntifications database

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PRIDEi
P37275

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55272

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P37275

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P37275

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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 in heart and skeletal muscle, but not in liver, spleen, or pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000148516 Expressed in 238 organ(s), highest expression level in myometrium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P37275 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P37275 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB058686
HPA027524

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via N-terminus) with SMARCA4/BRG1.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112796, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P37275

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P37275

Protein interaction database and analysis system

More...
IntActi
P37275, 5 interactors

Molecular INTeraction database

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MINTi
P37275

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354487

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11124
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P37275

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P37275

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi989 – 1124Glu-rich (acidic)Add BLAST136

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri170 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri200 – 222C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri240 – 262C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri268 – 292C2H2-type 4; atypicalPROSITE-ProRule annotationAdd BLAST25
Zinc fingeri904 – 926C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri932 – 954C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri960 – 981C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST22

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3623 Eukaryota
ENOG410ZFMZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183208

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000264256

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P37275

KEGG Orthology (KO)

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KOi
K09299

Identification of Orthologs from Complete Genome Data

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OMAi
VTNYNNV

Database of Orthologous Groups

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OrthoDBi
890458at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P37275

TreeFam database of animal gene trees

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TreeFami
TF331759

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008598 Di19_Zn_binding_dom
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096 zf-C2H2, 4 hits
PF05605 zf-Di19, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389 HOX, 1 hit
SM00355 ZnF_C2H2, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit
SSF57667 SSF57667, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P37275-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADGPRCKRR KQANPRRNNV TNYNTVVETN SDSDDEDKLH IVEEESVTDA
60 70 80 90 100
ADCEGVPEDD LPTDQTVLPG RSSEREGNAK NCWEDDRKEG QEILGPEAQA
110 120 130 140 150
DEAGCTVKDD ECESDAENEQ NHDPNVEEFL QQQDTAVIFP EAPEEDQRQG
160 170 180 190 200
TPEASGHDEN GTPDAFSQLL TCPYCDRGYK RFTSLKEHIK YRHEKNEDNF
210 220 230 240 250
SCSLCSYTFA YRTQLERHMT SHKSGRDQRH VTQSGCNRKF KCTECGKAFK
260 270 280 290 300
YKHHLKEHLR IHSGEKPYEC PNCKKRFSHS GSYSSHISSK KCISLIPVNG
310 320 330 340 350
RPRTGLKTSQ CSSPSLSASP GSPTRPQIRQ KIENKPLQEQ LSVNQIKTEP
360 370 380 390 400
VDYEFKPIVV ASGINCSTPL QNGVFTGGGP LQATSSPQGM VQAVVLPTVG
410 420 430 440 450
LVSPISINLS DIQNVLKVAV DGNVIRQVLE NNQANLASKE QETINASPIQ
460 470 480 490 500
QGGHSVISAI SLPLVDQDGT TKIIINYSLE QPSQLQVVPQ NLKKENPVAT
510 520 530 540 550
NSCKSEKLPE DLTVKSEKDK SFEGGVNDST CLLCDDCPGD INALPELKHY
560 570 580 590 600
DLKQPTQPPP LPAAEAEKPE SSVSSATGDG NLSPSQPPLK NLLSLLKAYY
610 620 630 640 650
ALNAQPSAEE LSKIADSVNL PLDVVKKWFE KMQAGQISVQ SSEPSSPEPG
660 670 680 690 700
KVNIPAKNND QPQSANANEP QDSTVNLQSP LKMTNSPVLP VGSTTNGSRS
710 720 730 740 750
STPSPSPLNL SSSRNTQGYL YTAEGAQEEP QVEPLDLSLP KQQGELLERS
760 770 780 790 800
TITSVYQNSV YSVQEEPLNL SCAKKEPQKD SCVTDSEPVV NVIPPSANPI
810 820 830 840 850
NIAIPTVTAQ LPTIVAIADQ NSVPCLRALA ANKQTILIPQ VAYTYSTTVS
860 870 880 890 900
PAVQEPPLKV IQPNGNQDER QDTSSEGVSN VEDQNDSDST PPKKKMRKTE
910 920 930 940 950
NGMYACDLCD KIFQKSSSLL RHKYEHTGKR PHECGICKKA FKHKHHLIEH
960 970 980 990 1000
MRLHSGEKPY QCDKCGKRFS HSGSYSQHMN HRYSYCKREA EERDSTEQEE
1010 1020 1030 1040 1050
AGPEILSNEH VGARASPSQG DSDERESLTR EEDEDSEKEE EEEDKEMEEL
1060 1070 1080 1090 1100
QEEKECEKPQ GDEEEEEEEE EVEEEEVEEA ENEGEEAKTE GLMKDDRAES
1110 1120
QASSLGQKVG ESSEQVSEEK TNEA
Length:1,124
Mass (Da):124,074
Last modified:July 15, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0A2714CC37C848D1
GO
Isoform 2 (identifier: P37275-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-87: R → TG

Note: No experimental confirmation available.
Show »
Length:1,125
Mass (Da):124,076
Checksum:i3C327EEBBA18D19B
GO
Isoform 3 (identifier: P37275-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-87: VTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAKNCWEDDR → G

Show »
Length:1,057
Mass (Da):116,593
Checksum:i7C683713C6562DC8
GO
Isoform 4 (identifier: P37275-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     87-107: RKEGQEILGPEAQADEAGCTV → I

Show »
Length:1,104
Mass (Da):122,003
Checksum:i3F8DAA9A05DFA6E4
GO
Isoform 5 (identifier: P37275-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MADGPRCKRRKQANPRRNN → MK
     87-87: R → TG

Show »
Length:1,108
Mass (Da):122,084
Checksum:i33855F3B478635C8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YMN2H0YMN2_HUMAN
Zinc finger E-box-binding homeobox ...
ZEB1
277Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6TDF5F6TDF5_HUMAN
Zinc finger E-box-binding homeobox ...
ZEB1
289Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YND9H0YND9_HUMAN
Zinc finger E-box-binding homeobox ...
ZEB1
288Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YMD3H0YMD3_HUMAN
Zinc finger E-box-binding homeobox ...
ZEB1
274Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6U0D0F6U0D0_HUMAN
Zinc finger E-box-binding homeobox ...
ZEB1
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG62481 differs from that shown. Reason: Frameshift at position 177.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti12Q → R in BAC03673 (PubMed:14702039).Curated1
Sequence conflicti81N → S in BAC03673 (PubMed:14702039).Curated1
Sequence conflicti84E → K in BAC03673 (PubMed:14702039).Curated1
Sequence conflicti220T → A in BAG62481 (PubMed:14702039).Curated1
Sequence conflicti390M → T in BAG62481 (PubMed:14702039).Curated1
Sequence conflicti420V → I in AAA20602 (Ref. 2) Curated1
Sequence conflicti472K → R in BAG58962 (PubMed:14702039).Curated1
Sequence conflicti609E → Q in M81699 (PubMed:1840704).Curated1
Sequence conflicti654I → T in AAA20602 (Ref. 2) Curated1
Sequence conflicti672D → H in M81699 (PubMed:1840704).Curated1
Sequence conflicti681L → S in M81699 (PubMed:1840704).Curated1
Sequence conflicti775K → T in BAG62481 (PubMed:14702039).Curated1
Sequence conflicti793 – 794IP → KY in BAG58962 (PubMed:14702039).Curated2
Sequence conflicti797A → N in BAG58962 (PubMed:14702039).Curated1
Sequence conflicti818A → V in BAG62481 (PubMed:14702039).Curated1
Sequence conflicti838I → T in BAC03673 (PubMed:14702039).Curated1
Sequence conflicti1066E → G in BAC03673 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06375978N → T in FECD6; no effect on protein expression; no effect on nuclear localization. 3 PublicationsCorresponds to variant dbSNP:rs80194531EnsemblClinVar.1
Natural variantiVAR_05273190G → R. Corresponds to variant dbSNP:rs12217419Ensembl.1
Natural variantiVAR_072897525G → E Found in a patient with FECD6. 1 Publication1
Natural variantiVAR_031824553K → R. Corresponds to variant dbSNP:rs35753967Ensembl.1
Natural variantiVAR_072898640Q → H in FECD6; down-regulation of several collagen genes expression. 1 PublicationCorresponds to variant dbSNP:rs779148597Ensembl.1
Natural variantiVAR_063760649P → A in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs781750314Ensembl.1
Natural variantiVAR_072899696N → S in FECD6; no effect on protein expression; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs567252241Ensembl.1
Natural variantiVAR_063761810Q → P in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs199944415Ensembl.1
Natural variantiVAR_063762840Q → P in FECD6; no effect on protein expression; no effect on nuclear localization. 2 PublicationsCorresponds to variant dbSNP:rs118020901EnsemblClinVar.1
Natural variantiVAR_072900905A → G in FECD6; no effect on protein expression; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs78449005Ensembl.1
Natural variantiVAR_063763905A → T in FECD6. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0472791 – 19MADGP…PRRNN → MK in isoform 5. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_04728020 – 87VTNYN…WEDDR → G in isoform 3. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_04728187 – 107RKEGQ…AGCTV → I in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_04518487R → TG in isoform 2 and isoform 5. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D15050 mRNA Translation: BAA03646.1
U12170 mRNA Translation: AAA20602.1
AK091478 mRNA Translation: BAC03673.1
AK296244 mRNA Translation: BAG58962.1
AK300830 mRNA Translation: BAG62481.1 Frameshift.
AL158080 Genomic DNA No translation available.
AL161935 Genomic DNA No translation available.
AL117340 Genomic DNA No translation available.
AL355148 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW85989.1
BC112392 mRNA Translation: AAI12393.1
M81699 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44370.1 [P37275-5]
CCDS53505.1 [P37275-2]
CCDS53506.1 [P37275-4]
CCDS53507.1 [P37275-3]
CCDS7169.1 [P37275-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
JX0293

NCBI Reference Sequences

More...
RefSeqi
NP_001121600.1, NM_001128128.2 [P37275-5]
NP_001167564.1, NM_001174093.1 [P37275-4]
NP_001167565.1, NM_001174094.1
NP_001167566.1, NM_001174095.1 [P37275-3]
NP_001167567.1, NM_001174096.1 [P37275-2]
NP_110378.3, NM_030751.5 [P37275-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000320985; ENSP00000319248; ENSG00000148516 [P37275-1]
ENST00000361642; ENSP00000354487; ENSG00000148516 [P37275-2]
ENST00000446923; ENSP00000391612; ENSG00000148516 [P37275-5]
ENST00000542815; ENSP00000444891; ENSG00000148516 [P37275-3]
ENST00000560721; ENSP00000452787; ENSG00000148516 [P37275-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6935

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6935

UCSC genome browser

More...
UCSCi
uc001ivs.5 human [P37275-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D15050 mRNA Translation: BAA03646.1
U12170 mRNA Translation: AAA20602.1
AK091478 mRNA Translation: BAC03673.1
AK296244 mRNA Translation: BAG58962.1
AK300830 mRNA Translation: BAG62481.1 Frameshift.
AL158080 Genomic DNA No translation available.
AL161935 Genomic DNA No translation available.
AL117340 Genomic DNA No translation available.
AL355148 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW85989.1
BC112392 mRNA Translation: AAI12393.1
M81699 mRNA No translation available.
CCDSiCCDS44370.1 [P37275-5]
CCDS53505.1 [P37275-2]
CCDS53506.1 [P37275-4]
CCDS53507.1 [P37275-3]
CCDS7169.1 [P37275-1]
PIRiJX0293
RefSeqiNP_001121600.1, NM_001128128.2 [P37275-5]
NP_001167564.1, NM_001174093.1 [P37275-4]
NP_001167565.1, NM_001174094.1
NP_001167566.1, NM_001174095.1 [P37275-3]
NP_001167567.1, NM_001174096.1 [P37275-2]
NP_110378.3, NM_030751.5 [P37275-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E19NMR-A586-642[»]
SMRiP37275
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112796, 39 interactors
CORUMiP37275
ELMiP37275
IntActiP37275, 5 interactors
MINTiP37275
STRINGi9606.ENSP00000354487

PTM databases

iPTMnetiP37275
PhosphoSitePlusiP37275

Polymorphism and mutation databases

BioMutaiZEB1
DMDMi6166575

Proteomic databases

EPDiP37275
jPOSTiP37275
MaxQBiP37275
PaxDbiP37275
PeptideAtlasiP37275
PRIDEiP37275
ProteomicsDBi55272

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320985; ENSP00000319248; ENSG00000148516 [P37275-1]
ENST00000361642; ENSP00000354487; ENSG00000148516 [P37275-2]
ENST00000446923; ENSP00000391612; ENSG00000148516 [P37275-5]
ENST00000542815; ENSP00000444891; ENSG00000148516 [P37275-3]
ENST00000560721; ENSP00000452787; ENSG00000148516 [P37275-4]
GeneIDi6935
KEGGihsa:6935
UCSCiuc001ivs.5 human [P37275-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6935
DisGeNETi6935

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ZEB1
HGNCiHGNC:11642 ZEB1
HPAiCAB058686
HPA027524
MalaCardsiZEB1
MIMi189909 gene
609141 phenotype
613270 phenotype
neXtProtiNX_P37275
OpenTargetsiENSG00000148516
Orphaneti98974 Fuchs endothelial corneal dystrophy
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA162409589

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3623 Eukaryota
ENOG410ZFMZ LUCA
GeneTreeiENSGT00950000183208
HOGENOMiHOG000264256
InParanoidiP37275
KOiK09299
OMAiVTNYNNV
OrthoDBi890458at2759
PhylomeDBiP37275
TreeFamiTF331759

Enzyme and pathway databases

ReactomeiR-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
SignaLinkiP37275
SIGNORiP37275

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ZEB1 human
EvolutionaryTraceiP37275

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ZEB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6935

Protein Ontology

More...
PROi
PR:P37275

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148516 Expressed in 238 organ(s), highest expression level in myometrium
ExpressionAtlasiP37275 baseline and differential
GenevisibleiP37275 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR008598 Di19_Zn_binding_dom
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 4 hits
PF05605 zf-Di19, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF46689 SSF46689, 1 hit
SSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZEB1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P37275
Secondary accession number(s): B4DJV0
, B4DUW9, E9PCM7, F5H4I8, Q12924, Q13800, Q2KJ05, Q5T968, Q5VZ84, Q8NB68
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: July 15, 1999
Last modified: June 5, 2019
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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