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Protein

Endoglin

Gene

ENG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signaling through SMAD3.2 Publications

GO - Molecular functioni

  • activin binding Source: BHF-UCL
  • galactose binding Source: BHF-UCL
  • glycosaminoglycan binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • transforming growth factor beta-activated receptor activity Source: BHF-UCL
  • transforming growth factor beta binding Source: BHF-UCL
  • transforming growth factor beta receptor, cytoplasmic mediator activity Source: BHF-UCL
  • transmembrane signaling receptor activity Source: BHF-UCL
  • type II transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL

GO - Biological processi

  • artery morphogenesis Source: BHF-UCL
  • atrial cardiac muscle tissue morphogenesis Source: BHF-UCL
  • atrioventricular canal morphogenesis Source: BHF-UCL
  • BMP signaling pathway Source: BHF-UCL
  • bone development Source: Ensembl
  • cardiac atrium morphogenesis Source: BHF-UCL
  • cardiac ventricle morphogenesis Source: BHF-UCL
  • cell adhesion Source: UniProtKB-KW
  • cell chemotaxis Source: BHF-UCL
  • cell migration Source: BHF-UCL
  • cell migration involved in endocardial cushion formation Source: Ensembl
  • cell motility Source: BHF-UCL
  • cellular response to mechanical stimulus Source: Ensembl
  • central nervous system vasculogenesis Source: BHF-UCL
  • chronological cell aging Source: BHF-UCL
  • detection of hypoxia Source: BHF-UCL
  • dorsal aorta morphogenesis Source: BHF-UCL
  • endocardial cushion morphogenesis Source: BHF-UCL
  • epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
  • extracellular matrix constituent secretion Source: Ensembl
  • extracellular matrix disassembly Source: BHF-UCL
  • heart looping Source: BHF-UCL
  • negative regulation of cell migration Source: BHF-UCL
  • negative regulation of endothelial cell proliferation Source: BHF-UCL
  • negative regulation of gene expression Source: BHF-UCL
  • negative regulation of nitric-oxide synthase activity Source: BHF-UCL
  • negative regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • negative regulation of protein autophosphorylation Source: BHF-UCL
  • negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • negative regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  • outflow tract septum morphogenesis Source: BHF-UCL
  • patterning of blood vessels Source: BHF-UCL
  • positive regulation of angiogenesis Source: Ensembl
  • positive regulation of BMP signaling pathway Source: BHF-UCL
  • positive regulation of collagen biosynthetic process Source: Ensembl
  • positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
  • positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • positive regulation of protein phosphorylation Source: BHF-UCL
  • positive regulation of systemic arterial blood pressure Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • positive regulation of vascular smooth muscle cell differentiation Source: BHF-UCL
  • regulation of cell adhesion Source: BHF-UCL
  • regulation of cell proliferation Source: BHF-UCL
  • regulation of phosphorylation Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: HGNC
  • regulation of transforming growth factor beta receptor signaling pathway Source: HGNC
  • response to corticosteroid Source: Ensembl
  • response to hypoxia Source: BHF-UCL
  • response to transforming growth factor beta Source: Ensembl
  • smooth muscle tissue development Source: BHF-UCL
  • transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  • vascular smooth muscle cell development Source: BHF-UCL
  • vasculogenesis Source: BHF-UCL
  • venous blood vessel morphogenesis Source: BHF-UCL
  • ventricular trabecula myocardium morphogenesis Source: BHF-UCL
  • wound healing Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Angiogenesis, Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106991-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Endoglin
Alternative name(s):
CD_antigen: CD105
Gene namesi
Name:ENG
Synonyms:END
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:3349. ENG.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 586ExtracellularSequence analysisAdd BLAST561
Transmembranei587 – 611HelicalSequence analysisAdd BLAST25
Topological domaini612 – 658CytoplasmicSequence analysisAdd BLAST47

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • cytoplasm Source: HPA
  • endothelial microparticle Source: Ensembl
  • external side of plasma membrane Source: BHF-UCL
  • extracellular space Source: BHF-UCL
  • focal adhesion Source: UniProtKB
  • nucleoplasm Source: HPA
  • receptor complex Source: BHF-UCL
  • transforming growth factor beta receptor homodimeric complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Telangiectasia, hereditary hemorrhagic, 1 (HHT1)11 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
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. 2 Publications1
Natural variantiVAR_00519453C → R in HHT1. 3 Publications1
Natural variantiVAR_070280105V → D in HHT1. 1 Publication1
Natural variantiVAR_026776107L → R in HHT1. 1 Publication1
Natural variantiVAR_005195149W → C in HHT1. 2 Publications1
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. 2 Publications1
Natural variantiVAR_070286221L → Q in HHT1. 1 Publication1
Natural variantiVAR_026778232 – 233Missing in HHT1. 2
Natural variantiVAR_070288238V → E in HHT1. 1 Publication1
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 rs121918401dbSNPEnsembl.1
Natural variantiVAR_070297437R → W in HHT1. 1 Publication1
Natural variantiVAR_070298490L → S in HHT1. 1 PublicationCorresponds to variant rs763475207dbSNPEnsembl.1
Natural variantiVAR_026782504V → M in HHT1. 1 PublicationCorresponds to variant rs116330805dbSNPEnsembl.1
Natural variantiVAR_070299529R → H in HHT1. 1 Publication1
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
Natural variantiVAR_026783615S → L in HHT1. 1 PublicationCorresponds to variant rs148002300dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2022.
MalaCardsiENG.
MIMi187300. phenotype.
OpenTargetsiENSG00000106991.
Orphaneti231160. Familial cerebral saccular aneurysm.
329971. Generalized juvenile polyposis/juvenile polyposis coli.
774. Hereditary hemorrhagic telangiectasia.
PharmGKBiPA27785.

Chemistry databases

GuidetoPHARMACOLOGYi2895.

Polymorphism and mutation databases

DMDMi3041681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Add BLAST25
ChainiPRO_000002115626 – 658EndoglinAdd BLAST633

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi88N-linked (GlcNAc...)Sequence analysis1
Glycosylationi102N-linked (GlcNAc...)Sequence analysis1
Glycosylationi121N-linked (GlcNAc...)Sequence analysis1
Glycosylationi134N-linked (GlcNAc...)1 Publication1
Glycosylationi307N-linked (GlcNAc...)Sequence analysis1
Modified residuei646Phosphoserine; by TGFBR1By similarity1
Modified residuei649Phosphoserine; by TGFBR1By similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP17813.
PaxDbiP17813.
PeptideAtlasiP17813.
PRIDEiP17813.

PTM databases

iPTMnetiP17813.
PhosphoSitePlusiP17813.
SwissPalmiP17813.

Expressioni

Tissue specificityi

Endoglin is restricted to endothelial cells in all tissues except bone marrow.

Gene expression databases

BgeeiENSG00000106991.
CleanExiHS_ENG.
ExpressionAtlasiP17813. baseline and differential.
GenevisibleiP17813. HS.

Organism-specific databases

HPAiCAB000096.
CAB072873.
HPA011862.
HPA067440.

Interactioni

Subunit structurei

Homodimer that forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4. Interacts with ARRB2. Interacts with GDF2.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ITGA5P086484EBI-2834630,EBI-1382311
ITGB1P055563EBI-2834630,EBI-703066
TGFB1P011372EBI-2834630,EBI-779636

GO - Molecular functioni

  • activin binding Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • transforming growth factor beta binding Source: BHF-UCL
  • type II transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108337. 12 interactors.
DIPiDIP-6246N.
IntActiP17813. 12 interactors.
MINTiMINT-4529566.
STRINGi9606.ENSP00000362299.

Structurei

3D structure databases

ProteinModelPortaliP17813.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni26 – 337Required for interaction with EGLAdd BLAST312

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi399 – 401Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi336 – 576Ser/Thr-richAdd BLAST241

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR001507. ZP_dom.
[Graphical view]
PfamiPF00100. Zona_pellucida. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 → M.1 PublicationCorresponds to variant rs35400405dbSNPEnsembl.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. 2 Publications1
Natural variantiVAR_00519453C → R in HHT1. 3 Publications1
Natural variantiVAR_070280105V → D in HHT1. 1 Publication1
Natural variantiVAR_026776107L → R in HHT1. 1 Publication1
Natural variantiVAR_005195149W → C in HHT1. 2 Publications1
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 → P.1 Publication1
Natural variantiVAR_026777207Missing in HHT1. 1 Publication1
Natural variantiVAR_070285220I → T in HHT1. 1 Publication1
Natural variantiVAR_009121221L → P in HHT1. 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 rs754136153dbSNPEnsembl.1
Natural variantiVAR_070288238V → E in HHT1. 1 Publication1
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 rs763508329dbSNPEnsembl.1
Natural variantiVAR_070293363C → S in HHT1. 1 Publication1
Natural variantiVAR_014764366D → H.Corresponds to variant rs1800956dbSNPEnsembl.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 rs121918401dbSNPEnsembl.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 rs763475207dbSNPEnsembl.1
Natural variantiVAR_026782504V → M in HHT1. 1 PublicationCorresponds to variant rs116330805dbSNPEnsembl.1
Natural variantiVAR_070299529R → H in HHT1. 1 Publication1
Natural variantiVAR_070300529R → P in HHT1. 1 Publication1
Natural variantiVAR_070301545G → D in HHT1. 1 Publication1
Natural variantiVAR_070302545G → S.1 PublicationCorresponds to variant rs142896669dbSNPEnsembl.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 Publication1
Natural variantiVAR_070305561D → A.1 PublicationCorresponds to variant rs375965489dbSNPEnsembl.1
Natural variantiVAR_070306603G → R in HHT1. 1 Publication1
Natural variantiVAR_070307604A → D in HHT1. 1 Publication1
Natural variantiVAR_026783615S → L in HHT1. 1 PublicationCorresponds to variant rs148002300dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004233619 – 658SPSKR…TSSMA → EYPRPPQ in isoform Short. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72012 mRNA. Translation: CAA50891.1.
AL157935, AL162586 Genomic DNA. Translation: CAI12604.1.
AL162586, AL157935 Genomic DNA. Translation: CAI39764.1.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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, AL162586 Genomic DNA. Translation: CAI12604.1.
AL162586, AL157935 Genomic DNA. Translation: CAI39764.1.
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

ProteinModelPortaliP17813.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108337. 12 interactors.
DIPiDIP-6246N.
IntActiP17813. 12 interactors.
MINTiMINT-4529566.
STRINGi9606.ENSP00000362299.

Chemistry databases

GuidetoPHARMACOLOGYi2895.

PTM databases

iPTMnetiP17813.
PhosphoSitePlusiP17813.
SwissPalmiP17813.

Polymorphism and mutation databases

DMDMi3041681.

Proteomic databases

MaxQBiP17813.
PaxDbiP17813.
PeptideAtlasiP17813.
PRIDEiP17813.

Protocols and materials databases

DNASUi2022.
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

CTDi2022.
DisGeNETi2022.
GeneCardsiENG.
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.
PharmGKBiPA27785.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106991-MONOMER.

Miscellaneous databases

ChiTaRSiENG. human.
GeneWikiiEndoglin.
GenomeRNAii2022.
PROiP17813.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106991.
CleanExiHS_ENG.
ExpressionAtlasiP17813. baseline and differential.
GenevisibleiP17813. HS.

Family and domain databases

InterProiIPR001507. ZP_dom.
[Graphical view]
PfamiPF00100. Zona_pellucida. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEGLN_HUMAN
AccessioniPrimary (citable) accession number: P17813
Secondary accession number(s): Q14248, Q14926, Q5T9C0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: July 15, 1998
Last modified: November 2, 2016
This is version 181 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.