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Protein

Endoglin

Gene

ENG

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

Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).By similarity1 Publication5 Publications

<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

Biological processAngiogenesis, Cell adhesion

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P17813

<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:
Endoglin
Alternative name(s):
CD_antigen: CD105
<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:ENG
Synonyms:END
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000106991.13

Human Gene Nomenclature Database

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HGNCi
HGNC:3349 ENG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
131195 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P17813

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 586ExtracellularSequence analysisAdd BLAST561
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei587 – 611HelicalSequence analysisAdd BLAST25
Topological domaini612 – 658CytoplasmicSequence analysisAdd BLAST47

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Telangiectasia, hereditary hemorrhagic, 1 (HHT1)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
See also OMIM:187300
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_0267748L → P in HHT1. 1 Publication1
Natural variantiVAR_07027911A → D in HHT1. 1 Publication1
Natural variantiVAR_02677549V → F in HHT1. 1 Publication1
Natural variantiVAR_00519352G → V in HHT1; impairs protein folding; abolishes expression at the cell surface. 2 Publications1
Natural variantiVAR_00519453C → R in HHT1; impairs protein folding; abolishes expression at the cell surface. 3 Publications1
Natural variantiVAR_070280105V → D in HHT1. 1 Publication1
Natural variantiVAR_026776107L → R in HHT1. 1 Publication1
Natural variantiVAR_005195149W → C in HHT1; impairs protein folding; nearly abolishes expression at the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs878853657EnsemblClinVar.1
Natural variantiVAR_009120160A → D in HHT1. 1 Publication1
Natural variantiVAR_070282175A → E in HHT1. 1 Publication1
Natural variantiVAR_005196192 – 198Missing in HHT1. 1 Publication7
Natural variantiVAR_070283193 – 194TL → VLQ in HHT1. 1 Publication2
Natural variantiVAR_026777207Missing in HHT1. 1 Publication1
Natural variantiVAR_070285220I → T in HHT1. 1 Publication1
Natural variantiVAR_009121221L → P in HHT1; impairs protein folding; strongly reduces expression at the cell surface. 2 Publications1
Natural variantiVAR_070286221L → Q in HHT1. 1 Publication1
Natural variantiVAR_026778232 – 233Missing in HHT1. 2
Natural variantiVAR_070288238V → E in HHT1. 1 PublicationCorresponds to variant dbSNP:rs1060501415Ensembl.1
Natural variantiVAR_070289263I → S in HHT1. 1 Publication1
Natural variantiVAR_026780263I → T in HHT1. 1 Publication1
Natural variantiVAR_026779263Missing in HHT1. 2 Publications1
Natural variantiVAR_070290269M → R in HHT1. 1 Publication1
Natural variantiVAR_005197306L → P in HHT1. 1 Publication1
Natural variantiVAR_070291308A → D in HHT1. 1 Publication1
Natural variantiVAR_070293363C → S in HHT1. 1 Publication1
Natural variantiVAR_070295394C → Y in HHT1. 1 Publication1
Natural variantiVAR_026781412C → S in HHT1. 1 Publication1
Natural variantiVAR_037140413G → V in HHT1. 1 PublicationCorresponds to variant dbSNP:rs121918401EnsemblClinVar.1
Natural variantiVAR_070297437R → W in HHT1. 1 Publication1
Natural variantiVAR_070298490L → S in HHT1. 1 PublicationCorresponds to variant dbSNP:rs763475207EnsemblClinVar.1
Natural variantiVAR_026782504V → M in HHT1. 1 PublicationCorresponds to variant dbSNP:rs116330805EnsemblClinVar.1
Natural variantiVAR_070299529R → H in HHT1. 1 PublicationCorresponds to variant dbSNP:rs863223538EnsemblClinVar.1
Natural variantiVAR_070300529R → P in HHT1. 1 Publication1
Natural variantiVAR_070301545G → D in HHT1. 1 Publication1
Natural variantiVAR_070303547L → P in HHT1. 1 Publication1
Natural variantiVAR_070306603G → R in HHT1. 1 Publication1
Natural variantiVAR_070307604A → D in HHT1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi246D → A: No effect on interaction with GDF2. 1 Publication1
Mutagenesisi269M → A: Impairs protein folding, but does not abolish interaction with GDF2. 1 Publication1
Mutagenesisi270 – 271QI → AA: Loss of interaction with GDF2. 1 Publication2
Mutagenesisi277Y → A: No effect on interaction with GDF2. 1 Publication1
Mutagenesisi278S → P: Loss of interaction with GDF2. 1 Publication1
Mutagenesisi282F → V: Loss of interaction with GDF2. 1 Publication1
Mutagenesisi290F → A: No effect on interaction with GDF2. 1 Publication1
Mutagenesisi350C → S: Impairs protein folding. Impairs protein folding; when associated with C-382. 1 Publication1
Mutagenesisi382C → S: Impairs protein folding. Impairs protein folding; when associated with C-350. 1 Publication1
Mutagenesisi516C → S: Loss of dimerization via ZP domain. 1 Publication1
Mutagenesisi650T → A: Loss of interaction with ARRB2. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2022

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ENG

MalaCards human disease database

More...
MalaCardsi
ENG
MIMi187300 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106991

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

More...
Orphaneti
231160 Familial cerebral saccular aneurysm
329971 Generalized juvenile polyposis/juvenile polyposis coli
774 Hereditary hemorrhagic telangiectasia
275777 Heritable pulmonary arterial hypertension

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27785

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3712885

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2895

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
3041681

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 251 PublicationAdd BLAST25
<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_000002115626 – 658EndoglinAdd BLAST633

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi30 ↔ 207Combined sources1 Publication
Disulfide bondi53 ↔ 182Combined sources1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi88N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi102N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi134N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi242 ↔ 330Combined sources1 Publication
Glycosylationi307N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi350 ↔ 382Combined sources1 Publication
Disulfide bondi363 ↔ 442Combined sources1 Publication
Disulfide bondi394 ↔ 412Combined sources1 Publication
Disulfide bondi493 ↔ 549Combined sources1 Publication
Disulfide bondi516Interchain1 Publication
<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 residuei646Phosphoserine; by TGFBR1By similarity1
Modified residuei649Phosphoserine; by TGFBR1By similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P17813

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

More...
PaxDbi
P17813

PeptideAtlas

More...
PeptideAtlasi
P17813

PRoteomics IDEntifications database

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PRIDEi
P17813

ProteomicsDB human proteome resource

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ProteomicsDBi
53517
53518 [P17813-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P17813

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

More...
PhosphoSitePlusi
P17813

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P17813

<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

Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106991 Expressed in 210 organ(s), highest expression level in right lung

CleanEx database of gene expression profiles

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CleanExi
HS_ENG

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P17813 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P17813 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB000096
CAB072873
HPA011862
HPA067440

<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

Homodimer; disulfide-linked (PubMed:8370410, PubMed:1326540, PubMed:21737454, PubMed:22347366, PubMed:28564608). Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2 (PubMed:1326540). It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3 (PubMed:8370410, PubMed:1326540). Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry (PubMed:21737454, PubMed:22347366, PubMed:28564608). Interacts with ACVRL1 (PubMed:22347366, PubMed:28564608). Can form a heteromeric complex with GDF2 and ACVRL1 (PubMed:28564608). Interacts with BMP10 (PubMed:21737454). Interacts with TCTEX1D4 (PubMed:16982625). Interacts with ARRB2 (PubMed:17540773).7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108337, 12 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P17813

Database of interacting proteins

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DIPi
DIP-6246N

Protein interaction database and analysis system

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IntActi
P17813, 17 interactors

Molecular INTeraction database

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MINTi
P17813

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000362299

<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

1658
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P17813

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

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SMRi
P17813

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini363 – 533ZPPROSITE-ProRule annotation1 PublicationAdd BLAST171

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni26 – 337Required for interaction with GDF23 PublicationsAdd BLAST312
Regioni26 – 46OR1, N-terminal part1 PublicationAdd BLAST21
Regioni47 – 199OR21 PublicationAdd BLAST153
Regioni200 – 330OR1, C-terminal part1 PublicationAdd BLAST131
Regioni270 – 282Essential for interaction with GDF21 PublicationAdd BLAST13

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi399 – 401Cell attachment siteSequence analysis3

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 biasi336 – 576Ser/Thr-richAdd BLAST241

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ZP domain mediates dimerization.1 Publication
The N-terminal OR region is composed of two intertwined domains (OR1 and OR2) with a common, novel fold. Each contains 12 beta-strands that form a parallel beta-helix-like structure, plus a single alpha-helix. The OR1 region mediates interaction with GDF2.1 Publication

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IQ57 Eukaryota
ENOG410YK9H LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063861

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112346

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005573

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P17813

KEGG Orthology (KO)

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KOi
K06526

Identification of Orthologs from Complete Genome Data

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OMAi
MGHTLEW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G030O

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P17813

TreeFam database of animal gene trees

More...
TreeFami
TF337375

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001507 ZP_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00100 Zona_pellucida, 1 hit

<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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform Long (identifier: P17813-1) [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
MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS
60 70 80 90 100
KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS
110 120 130 140 150
VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA
160 170 180 190 200
AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT
210 220 230 240 250
PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV
260 270 280 290 300
LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL
310 320 330 340 350
GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC
360 370 380 390 400
SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG
410 420 430 440 450
DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF
460 470 480 490 500
QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE
510 520 530 540 550
GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT
560 570 580 590 600
VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF
610 620 630 640 650
LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST

PCSTSSMA
Length:658
Mass (Da):70,578
Last modified:July 15, 1998 - 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:i49CA2CE013298D17
GO
Isoform Short (identifier: P17813-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     619-658: SPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA → EYPRPPQ

Show »
Length:625
Mass (Da):67,542
Checksum:i8D8E510E5CB05812
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GX88F5GX88_HUMAN
Endoglin
ENG
476Annotation 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>

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 conflicti14L → G AA sequence (PubMed:1692830).Curated1
Sequence conflicti122 – 130SSLVTFQEP → FQPGHLPRA (PubMed:7894484).Curated9

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0051925T → M1 PublicationCorresponds to variant dbSNP:rs35400405EnsemblClinVar.1
Natural variantiVAR_0267748L → P in HHT1. 1 Publication1
Natural variantiVAR_07027911A → D in HHT1. 1 Publication1
Natural variantiVAR_02677549V → F in HHT1. 1 Publication1
Natural variantiVAR_00519352G → V in HHT1; impairs protein folding; abolishes expression at the cell surface. 2 Publications1
Natural variantiVAR_00519453C → R in HHT1; impairs protein folding; abolishes expression at the cell surface. 3 Publications1
Natural variantiVAR_070280105V → D in HHT1. 1 Publication1
Natural variantiVAR_026776107L → R in HHT1. 1 Publication1
Natural variantiVAR_005195149W → C in HHT1; impairs protein folding; nearly abolishes expression at the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs878853657EnsemblClinVar.1
Natural variantiVAR_070281150A → P Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_009120160A → D in HHT1. 1 Publication1
Natural variantiVAR_070282175A → E in HHT1. 1 Publication1
Natural variantiVAR_005196192 – 198Missing in HHT1. 1 Publication7
Natural variantiVAR_070283193 – 194TL → VLQ in HHT1. 1 Publication2
Natural variantiVAR_070284205R → P1 Publication1
Natural variantiVAR_026777207Missing in HHT1. 1 Publication1
Natural variantiVAR_070285220I → T in HHT1. 1 Publication1
Natural variantiVAR_009121221L → P in HHT1; impairs protein folding; strongly reduces expression at the cell surface. 2 Publications1
Natural variantiVAR_070286221L → Q in HHT1. 1 Publication1
Natural variantiVAR_026778232 – 233Missing in HHT1. 2
Natural variantiVAR_070287236V → M Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs754136153Ensembl.1
Natural variantiVAR_070288238V → E in HHT1. 1 PublicationCorresponds to variant dbSNP:rs1060501415Ensembl.1
Natural variantiVAR_070289263I → S in HHT1. 1 Publication1
Natural variantiVAR_026780263I → T in HHT1. 1 Publication1
Natural variantiVAR_026779263Missing in HHT1. 2 Publications1
Natural variantiVAR_070290269M → R in HHT1. 1 Publication1
Natural variantiVAR_005197306L → P in HHT1. 1 Publication1
Natural variantiVAR_070291308A → D in HHT1. 1 Publication1
Natural variantiVAR_070292315V → M Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763508329Ensembl.1
Natural variantiVAR_070293363C → S in HHT1. 1 Publication1
Natural variantiVAR_014764366D → H. Corresponds to variant dbSNP:rs1800956EnsemblClinVar.1
Natural variantiVAR_070294374K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_070295394C → Y in HHT1. 1 Publication1
Natural variantiVAR_026781412C → S in HHT1. 1 Publication1
Natural variantiVAR_037140413G → V in HHT1. 1 PublicationCorresponds to variant dbSNP:rs121918401EnsemblClinVar.1
Natural variantiVAR_070296414M → R Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_070297437R → W in HHT1. 1 Publication1
Natural variantiVAR_070298490L → S in HHT1. 1 PublicationCorresponds to variant dbSNP:rs763475207EnsemblClinVar.1
Natural variantiVAR_026782504V → M in HHT1. 1 PublicationCorresponds to variant dbSNP:rs116330805EnsemblClinVar.1
Natural variantiVAR_070299529R → H in HHT1. 1 PublicationCorresponds to variant dbSNP:rs863223538EnsemblClinVar.1
Natural variantiVAR_070300529R → P in HHT1. 1 Publication1
Natural variantiVAR_070301545G → D in HHT1. 1 Publication1
Natural variantiVAR_070302545G → S1 PublicationCorresponds to variant dbSNP:rs142896669EnsemblClinVar.1
Natural variantiVAR_070303547L → P in HHT1. 1 Publication1
Natural variantiVAR_070304549C → Y Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060501421Ensembl.1
Natural variantiVAR_070305561D → A1 PublicationCorresponds to variant dbSNP:rs375965489EnsemblClinVar.1
Natural variantiVAR_070306603G → R in HHT1. 1 Publication1
Natural variantiVAR_070307604A → D in HHT1. 1 Publication1
Natural variantiVAR_026783615S → L1 PublicationCorresponds to variant dbSNP:rs148002300EnsemblClinVar.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004233619 – 658SPSKR…TSSMA → EYPRPPQ in isoform Short. 1 PublicationAdd BLAST40

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
X72012 mRNA Translation: CAA50891.1
AL157935 Genomic DNA No translation available.
AL162586 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87702.1
J05481 mRNA Translation: AAA35800.1
U37439
, AF036969, U37447, AF036970, U37446, U37445, AF036971, U37442, U37441 Genomic DNA Translation: AAC63386.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS48029.1 [P17813-1]
CCDS6880.1 [P17813-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S50831

NCBI Reference Sequences

More...
RefSeqi
NP_000109.1, NM_000118.3 [P17813-2]
NP_001108225.1, NM_001114753.2 [P17813-1]
NP_001265067.1, NM_001278138.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.76753

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344849; ENSP00000341917; ENSG00000106991 [P17813-2]
ENST00000373203; ENSP00000362299; ENSG00000106991 [P17813-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2022

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2022

UCSC genome browser

More...
UCSCi
uc004bsj.6 human [P17813-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Hereditary Hemorrhagic Telangiectasia and ENG

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72012 mRNA Translation: CAA50891.1
AL157935 Genomic DNA No translation available.
AL162586 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87702.1
J05481 mRNA Translation: AAA35800.1
U37439
, AF036969, U37447, AF036970, U37446, U37445, AF036971, U37442, U37441 Genomic DNA Translation: AAC63386.1
CCDSiCCDS48029.1 [P17813-1]
CCDS6880.1 [P17813-2]
PIRiS50831
RefSeqiNP_000109.1, NM_000118.3 [P17813-2]
NP_001108225.1, NM_001114753.2 [P17813-1]
NP_001265067.1, NM_001278138.1
UniGeneiHs.76753

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
5HZVX-ray2.70A338-581[»]
5HZWX-ray4.45A26-337[»]
5I04X-ray2.42A26-337[»]
ProteinModelPortaliP17813
SMRiP17813
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108337, 12 interactors
CORUMiP17813
DIPiDIP-6246N
IntActiP17813, 17 interactors
MINTiP17813
STRINGi9606.ENSP00000362299

Chemistry databases

ChEMBLiCHEMBL3712885
GuidetoPHARMACOLOGYi2895

PTM databases

iPTMnetiP17813
PhosphoSitePlusiP17813
SwissPalmiP17813

Polymorphism and mutation databases

DMDMi3041681

Proteomic databases

MaxQBiP17813
PaxDbiP17813
PeptideAtlasiP17813
PRIDEiP17813
ProteomicsDBi53517
53518 [P17813-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2022
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344849; ENSP00000341917; ENSG00000106991 [P17813-2]
ENST00000373203; ENSP00000362299; ENSG00000106991 [P17813-1]
GeneIDi2022
KEGGihsa:2022
UCSCiuc004bsj.6 human [P17813-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2022
DisGeNETi2022
EuPathDBiHostDB:ENSG00000106991.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ENG
GeneReviewsiENG
HGNCiHGNC:3349 ENG
HPAiCAB000096
CAB072873
HPA011862
HPA067440
MalaCardsiENG
MIMi131195 gene
187300 phenotype
neXtProtiNX_P17813
OpenTargetsiENSG00000106991
Orphaneti231160 Familial cerebral saccular aneurysm
329971 Generalized juvenile polyposis/juvenile polyposis coli
774 Hereditary hemorrhagic telangiectasia
275777 Heritable pulmonary arterial hypertension
PharmGKBiPA27785

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQ57 Eukaryota
ENOG410YK9H LUCA
GeneTreeiENSGT00530000063861
HOGENOMiHOG000112346
HOVERGENiHBG005573
InParanoidiP17813
KOiK06526
OMAiMGHTLEW
OrthoDBiEOG091G030O
PhylomeDBiP17813
TreeFamiTF337375

Enzyme and pathway databases

SIGNORiP17813

Miscellaneous databases

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

More...
ChiTaRSi
ENG human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Endoglin

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

More...
GenomeRNAii
2022

Protein Ontology

More...
PROi
PR:P17813

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106991 Expressed in 210 organ(s), highest expression level in right lung
CleanExiHS_ENG
ExpressionAtlasiP17813 baseline and differential
GenevisibleiP17813 HS

Family and domain databases

InterProiView protein in InterPro
IPR001507 ZP_dom
PfamiView protein in Pfam
PF00100 Zona_pellucida, 1 hit

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 nameiEGLN_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: P17813
Secondary accession number(s): Q14248, Q14926, Q5T9C0
<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: August 1, 1990
Last sequence update: July 15, 1998
Last modified: December 5, 2018
This is version 200 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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