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P17813

- EGLN_HUMAN

UniProt

P17813 - EGLN_HUMAN

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Protein

Endoglin

Gene

ENG

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. activin binding Source: BHF-UCL
  2. galactose binding Source: BHF-UCL
  3. glycosaminoglycan binding Source: BHF-UCL
  4. protein homodimerization activity Source: BHF-UCL
  5. transforming growth factor beta-activated receptor activity Source: BHF-UCL
  6. transforming growth factor beta binding Source: BHF-UCL
  7. transforming growth factor beta receptor, cytoplasmic mediator activity Source: BHF-UCL
  8. transmembrane signaling receptor activity Source: BHF-UCL
  9. type II transforming growth factor beta receptor binding Source: BHF-UCL
  10. type I transforming growth factor beta receptor binding Source: BHF-UCL

GO - Biological processi

  1. artery morphogenesis Source: BHF-UCL
  2. BMP signaling pathway Source: BHF-UCL
  3. bone development Source: Ensembl
  4. cell adhesion Source: UniProtKB-KW
  5. cell chemotaxis Source: BHF-UCL
  6. cell migration Source: BHF-UCL
  7. cell migration involved in endocardial cushion formation Source: Ensembl
  8. cell motility Source: BHF-UCL
  9. cellular response to mechanical stimulus Source: Ensembl
  10. central nervous system vasculogenesis Source: BHF-UCL
  11. chronological cell aging Source: Ensembl
  12. detection of hypoxia Source: BHF-UCL
  13. extracellular matrix constituent secretion Source: Ensembl
  14. extracellular matrix disassembly Source: BHF-UCL
  15. heart looping Source: BHF-UCL
  16. intracellular signal transduction Source: GOC
  17. negative regulation of cell migration Source: BHF-UCL
  18. negative regulation of endothelial cell proliferation Source: BHF-UCL
  19. negative regulation of nitric-oxide synthase activity Source: BHF-UCL
  20. negative regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  21. negative regulation of protein autophosphorylation Source: BHF-UCL
  22. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  23. negative regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  24. patterning of blood vessels Source: BHF-UCL
  25. positive regulation of BMP signaling pathway Source: BHF-UCL
  26. positive regulation of collagen biosynthetic process Source: Ensembl
  27. positive regulation of gene expression Source: Ensembl
  28. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  29. positive regulation of protein phosphorylation Source: BHF-UCL
  30. positive regulation of systemic arterial blood pressure Source: BHF-UCL
  31. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  32. regulation of cell adhesion Source: BHF-UCL
  33. regulation of cell proliferation Source: BHF-UCL
  34. regulation of phosphorylation Source: BHF-UCL
  35. regulation of transcription, DNA-templated Source: HGNC
  36. regulation of transforming growth factor beta receptor signaling pathway Source: HGNC
  37. response to corticosteroid Source: Ensembl
  38. response to hypoxia Source: BHF-UCL
  39. response to statin Source: Ensembl
  40. response to transforming growth factor beta Source: Ensembl
  41. smooth muscle tissue development Source: BHF-UCL
  42. transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  43. vasculogenesis Source: BHF-UCL
  44. venous blood vessel morphogenesis Source: BHF-UCL
  45. wound healing Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Angiogenesis, Cell adhesion

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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:3349. ENG.

Subcellular locationi

GO - Cellular componenti

  1. cell surface Source: BHF-UCL
  2. cytoplasm Source: HPA
  3. endothelial microparticle Source: Ensembl
  4. external side of plasma membrane Source: BHF-UCL
  5. extracellular space Source: BHF-UCL
  6. focal adhesion Source: UniProtKB
  7. nucleus Source: HPA
  8. 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) [MIM:187300]: A 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.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81L → P in HHT1. 1 Publication
VAR_026774
Natural varianti11 – 111A → D in HHT1. 1 Publication
VAR_070279
Natural varianti49 – 491V → F in HHT1. 1 Publication
VAR_026775
Natural varianti52 – 521G → V in HHT1. 2 Publications
VAR_005193
Natural varianti53 – 531C → R in HHT1. 3 Publications
VAR_005194
Natural varianti105 – 1051V → D in HHT1. 1 Publication
VAR_070280
Natural varianti107 – 1071L → R in HHT1. 1 Publication
VAR_026776
Natural varianti149 – 1491W → C in HHT1. 2 Publications
VAR_005195
Natural varianti160 – 1601A → D in HHT1. 1 Publication
VAR_009120
Natural varianti175 – 1751A → E in HHT1. 1 Publication
VAR_070282
Natural varianti192 – 1987Missing in HHT1. 1 Publication
VAR_005196
Natural varianti193 – 1942TL → VLQ in HHT1. 1 Publication
VAR_070283
Natural varianti207 – 2071Missing in HHT1. 1 Publication
VAR_026777
Natural varianti220 – 2201I → T in HHT1. 1 Publication
VAR_070285
Natural varianti221 – 2211L → P in HHT1. 2 Publications
VAR_009121
Natural varianti221 – 2211L → Q in HHT1. 1 Publication
VAR_070286
Natural varianti232 – 2332Missing in HHT1.
VAR_026778
Natural varianti238 – 2381V → E in HHT1. 1 Publication
VAR_070288
Natural varianti263 – 2631I → S in HHT1. 1 Publication
VAR_070289
Natural varianti263 – 2631I → T in HHT1. 1 Publication
VAR_026780
Natural varianti263 – 2631Missing in HHT1. 2 Publications
VAR_026779
Natural varianti269 – 2691M → R in HHT1. 1 Publication
VAR_070290
Natural varianti306 – 3061L → P in HHT1. 1 Publication
VAR_005197
Natural varianti308 – 3081A → D in HHT1. 1 Publication
VAR_070291
Natural varianti363 – 3631C → S in HHT1. 1 Publication
VAR_070293
Natural varianti394 – 3941C → Y in HHT1. 1 Publication
VAR_070295
Natural varianti412 – 4121C → S in HHT1. 1 Publication
VAR_026781
Natural varianti413 – 4131G → V in HHT1. 1 Publication
VAR_037140
Natural varianti437 – 4371R → W in HHT1. 1 Publication
VAR_070297
Natural varianti490 – 4901L → S in HHT1. 1 Publication
VAR_070298
Natural varianti504 – 5041V → M in HHT1. 1 Publication
Corresponds to variant rs116330805 [ dbSNP | Ensembl ].
VAR_026782
Natural varianti529 – 5291R → H in HHT1. 1 Publication
VAR_070299
Natural varianti529 – 5291R → P in HHT1. 1 Publication
VAR_070300
Natural varianti545 – 5451G → D in HHT1. 1 Publication
VAR_070301
Natural varianti547 – 5471L → P in HHT1. 1 Publication
VAR_070303
Natural varianti603 – 6031G → R in HHT1. 1 Publication
VAR_070306
Natural varianti604 – 6041A → D in HHT1. 1 Publication
VAR_070307
Natural varianti615 – 6151S → L in HHT1. 1 Publication
VAR_026783

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Add
BLAST
Chaini26 – 658633EndoglinPRO_0000021156Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi88 – 881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi102 – 1021N-linked (GlcNAc...)Sequence Analysis
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi134 – 1341N-linked (GlcNAc...)1 Publication
Glycosylationi307 – 3071N-linked (GlcNAc...)Sequence Analysis
Modified residuei646 – 6461Phosphoserine; by TGFBR1By similarity
Modified residuei649 – 6491Phosphoserine; by TGFBR1By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP17813.
PaxDbiP17813.
PRIDEiP17813.

PTM databases

PhosphoSiteiP17813.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP17813.
CleanExiHS_ENG.
ExpressionAtlasiP17813. baseline and differential.
GenevestigatoriP17813.

Organism-specific databases

HPAiCAB000096.
HPA011862.

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

Protein-protein interaction databases

BioGridi108337. 12 interactions.
DIPiDIP-6246N.
IntActiP17813. 8 interactions.
MINTiMINT-4529566.
STRINGi9606.ENSP00000362299.

Structurei

3D structure databases

ProteinModelPortaliP17813.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 586561ExtracellularSequence AnalysisAdd
BLAST
Topological domaini612 – 65847CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei587 – 61125HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni26 – 337312Required for interaction with EGLAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi399 – 4013Cell attachment siteSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi336 – 576241Ser/Thr-richAdd
BLAST

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46276.
GeneTreeiENSGT00530000063861.
HOGENOMiHOG000112346.
HOVERGENiHBG005573.
InParanoidiP17813.
KOiK06526.
OMAiHCDLQPV.
OrthoDBiEOG70S754.
PhylomeDBiP17813.
TreeFamiTF337375.

Family and domain databases

InterProiIPR001507. ZP_dom.
[Graphical view]
PfamiPF00100. Zona_pellucida. 2 hits.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141L → G AA sequence (PubMed:1692830)Curated
Sequence conflicti122 – 1309SSLVTFQEP → FQPGHLPRA(PubMed:7894484)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → M.1 Publication
Corresponds to variant rs35400405 [ dbSNP | Ensembl ].
VAR_005192
Natural varianti8 – 81L → P in HHT1. 1 Publication
VAR_026774
Natural varianti11 – 111A → D in HHT1. 1 Publication
VAR_070279
Natural varianti49 – 491V → F in HHT1. 1 Publication
VAR_026775
Natural varianti52 – 521G → V in HHT1. 2 Publications
VAR_005193
Natural varianti53 – 531C → R in HHT1. 3 Publications
VAR_005194
Natural varianti105 – 1051V → D in HHT1. 1 Publication
VAR_070280
Natural varianti107 – 1071L → R in HHT1. 1 Publication
VAR_026776
Natural varianti149 – 1491W → C in HHT1. 2 Publications
VAR_005195
Natural varianti150 – 1501A → P Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070281
Natural varianti160 – 1601A → D in HHT1. 1 Publication
VAR_009120
Natural varianti175 – 1751A → E in HHT1. 1 Publication
VAR_070282
Natural varianti192 – 1987Missing in HHT1. 1 Publication
VAR_005196
Natural varianti193 – 1942TL → VLQ in HHT1. 1 Publication
VAR_070283
Natural varianti205 – 2051R → P.1 Publication
VAR_070284
Natural varianti207 – 2071Missing in HHT1. 1 Publication
VAR_026777
Natural varianti220 – 2201I → T in HHT1. 1 Publication
VAR_070285
Natural varianti221 – 2211L → P in HHT1. 2 Publications
VAR_009121
Natural varianti221 – 2211L → Q in HHT1. 1 Publication
VAR_070286
Natural varianti232 – 2332Missing in HHT1.
VAR_026778
Natural varianti236 – 2361V → M Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070287
Natural varianti238 – 2381V → E in HHT1. 1 Publication
VAR_070288
Natural varianti263 – 2631I → S in HHT1. 1 Publication
VAR_070289
Natural varianti263 – 2631I → T in HHT1. 1 Publication
VAR_026780
Natural varianti263 – 2631Missing in HHT1. 2 Publications
VAR_026779
Natural varianti269 – 2691M → R in HHT1. 1 Publication
VAR_070290
Natural varianti306 – 3061L → P in HHT1. 1 Publication
VAR_005197
Natural varianti308 – 3081A → D in HHT1. 1 Publication
VAR_070291
Natural varianti315 – 3151V → M Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070292
Natural varianti363 – 3631C → S in HHT1. 1 Publication
VAR_070293
Natural varianti366 – 3661D → H.
Corresponds to variant rs1800956 [ dbSNP | Ensembl ].
VAR_014764
Natural varianti374 – 3741K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070294
Natural varianti394 – 3941C → Y in HHT1. 1 Publication
VAR_070295
Natural varianti412 – 4121C → S in HHT1. 1 Publication
VAR_026781
Natural varianti413 – 4131G → V in HHT1. 1 Publication
VAR_037140
Natural varianti414 – 4141M → R Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070296
Natural varianti437 – 4371R → W in HHT1. 1 Publication
VAR_070297
Natural varianti490 – 4901L → S in HHT1. 1 Publication
VAR_070298
Natural varianti504 – 5041V → M in HHT1. 1 Publication
Corresponds to variant rs116330805 [ dbSNP | Ensembl ].
VAR_026782
Natural varianti529 – 5291R → H in HHT1. 1 Publication
VAR_070299
Natural varianti529 – 5291R → P in HHT1. 1 Publication
VAR_070300
Natural varianti545 – 5451G → D in HHT1. 1 Publication
VAR_070301
Natural varianti545 – 5451G → S.1 Publication
VAR_070302
Natural varianti547 – 5471L → P in HHT1. 1 Publication
VAR_070303
Natural varianti549 – 5491C → Y Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
VAR_070304
Natural varianti561 – 5611D → A.1 Publication
VAR_070305
Natural varianti603 – 6031G → R in HHT1. 1 Publication
VAR_070306
Natural varianti604 – 6041A → D in HHT1. 1 Publication
VAR_070307
Natural varianti615 – 6151S → L in HHT1. 1 Publication
VAR_026783

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei619 – 65840SPSKR…TSSMA → EYPRPPQ in isoform Short. 1 PublicationVSP_004233Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.5. human. [P17813-1]

Polymorphism databases

DMDMi3041681.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS48029.1. [P17813-1 ]
CCDS6880.1. [P17813-2 ]
PIRi S50831.
RefSeqi NP_000109.1. NM_000118.3. [P17813-2 ]
NP_001108225.1. NM_001114753.2. [P17813-1 ]
NP_001265067.1. NM_001278138.1.
UniGenei Hs.76753.

3D structure databases

ProteinModelPortali P17813.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108337. 12 interactions.
DIPi DIP-6246N.
IntActi P17813. 8 interactions.
MINTi MINT-4529566.
STRINGi 9606.ENSP00000362299.

PTM databases

PhosphoSitei P17813.

Polymorphism databases

DMDMi 3041681.

Proteomic databases

MaxQBi P17813.
PaxDbi P17813.
PRIDEi P17813.

Protocols and materials databases

DNASUi 2022.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344849 ; ENSP00000341917 ; ENSG00000106991 . [P17813-2 ]
ENST00000373203 ; ENSP00000362299 ; ENSG00000106991 . [P17813-1 ]
GeneIDi 2022.
KEGGi hsa:2022.
UCSCi uc004bsj.5. human. [P17813-1 ]

Organism-specific databases

CTDi 2022.
GeneCardsi GC09M130577.
GeneReviewsi ENG.
HGNCi HGNC:3349. ENG.
HPAi CAB000096.
HPA011862.
MIMi 131195. gene.
187300. phenotype.
neXtProti NX_P17813.
Orphaneti 231160. Familial cerebral saccular aneurysm.
329971. Generalized juvenile polyposis/juvenile polyposis coli.
774. Hereditary hemorrhagic telangiectasia.
PharmGKBi PA27785.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46276.
GeneTreei ENSGT00530000063861.
HOGENOMi HOG000112346.
HOVERGENi HBG005573.
InParanoidi P17813.
KOi K06526.
OMAi HCDLQPV.
OrthoDBi EOG70S754.
PhylomeDBi P17813.
TreeFami TF337375.

Miscellaneous databases

ChiTaRSi ENG. human.
GeneWikii Endoglin.
GenomeRNAii 2022.
NextBioi 8193.
PROi P17813.
SOURCEi Search...

Gene expression databases

Bgeei P17813.
CleanExi HS_ENG.
ExpressionAtlasi P17813. baseline and differential.
Genevestigatori P17813.

Family and domain databases

InterProi IPR001507. ZP_dom.
[Graphical view ]
Pfami PF00100. Zona_pellucida. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions."
    Bellon T., Corbi A., Lastres P., Cales C., Cebrian M., Vera S., Cheifetz S., Massague J., Letarte M., Bernabeu C.
    Eur. J. Immunol. 23:2340-2345(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells."
    Gougos A., Letarte M.
    J. Biol. Chem. 265:8361-8364(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 14-658, PROTEIN SEQUENCE OF 26-36 (ISOFORM LONG).
    Tissue: Umbilical vein.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 122-378.
  6. "Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors."
    Meng Q.-J., Lux A., Holloschi A., Li J., Hughes J.M.X., Foerg T., McCarthy J.E.G., Heagerty A.M., Kioschis P., Hafner M., Garland J.M.
    J. Biol. Chem. 281:37069-37080(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TCTEX1D4.
  7. "The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells."
    Lee N.Y., Blobe G.C.
    J. Biol. Chem. 282:21507-21517(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ARRB2.
  8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-134.
    Tissue: Liver.
  9. "Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth."
    Castonguay R., Werner E.D., Matthews R.G., Presman E., Mulivor A.W., Solban N., Sako D., Pearsall R.S., Underwood K.W., Seehra J., Kumar R., Grinberg A.V.
    J. Biol. Chem. 286:30034-30046(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH GDF2.
  10. "Structural and functional insights into endoglin ligand recognition and binding."
    Alt A., Miguel-Romero L., Donderis J., Aristorena M., Blanco F.J., Round A., Rubio V., Bernabeu C., Marina A.
    PLoS ONE 7:E29948-E29948(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GDF2.
  11. "Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies."
    Nolan-Stevaux O., Zhong W., Culp S., Shaffer K., Hoover J., Wickramasinghe D., Ruefli-Brasse A.
    PLoS ONE 7:E50920-E50920(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia."
    Shovlin C.L., Hughes J.M.B., Scott J., Seidman C.E., Seidman J.G.
    Am. J. Hum. Genet. 61:68-79(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHT1 192-ARG--PRO-198 DEL, VARIANT MET-5.
  13. "A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia."
    Yamaguchi H., Azuma H., Shigekiyo T., Inoue H., Saito S.
    Thromb. Haemost. 77:243-247(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHT1 ASP-160.
  14. Cited for: VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-306.
  15. "Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1."
    Pece-Barbara N., Cymerman U., Vera S., Marchuk D.A., Letarte M.
    Hum. Mol. Genet. 8:2171-2181(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-221.
  16. "Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect."
    Gallione C.J., Scheessele E.A., Reinhardt D., Duits A.J., Berg J.N., Westermann C.J.J., Marchuk D.A.
    Hum. Genet. 107:40-44(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHT1 VAL-413.
  17. "Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin."
    Cymerman U., Vera S., Pece-Barbara N., Bourdeau A., White R.I. Jr., Dunn J., Letarte M.
    Pediatr. Res. 47:24-35(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHT1 ARG-53.
  18. Cited for: VARIANTS HHT1 PRO-8; PHE-49; ARG-107; CYS-207 DEL; THR-263; ARG-232-233-THR DEL; ILE-263 DEL; SER-412 AND MET-504.
  19. "Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
    Kuehl H.K.A., Caselitz M., Hasenkamp S., Wagner S., El-Harith E.-H.A., Manns M.P., Stuhrmann M.
    Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT1 PRO-221; ILE-263 DEL AND LEU-615.
  20. "Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
    Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
    Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT1 ASP-11; ASP-105; GLU-175; THR-220; ASP-308; SER-363; TRP-437; SER-490; HIS-529; PRO-547 AND ASP-604.
  21. "Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
    Argyriou L., Twelkemeyer S., Panchulidze I., Wehner L.E., Teske U., Engel W., Nayernia K.
    Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHT1 193-THR-LEU-194 DELINS VAL-LEU-GLN AND ASP-545.
  22. "Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
    Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A.
    Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PRO-150; PRO-205; MET-236; MET-315; GLU-374; ARG-414; SER-545; TYR-549 AND ALA-561, VARIANTS HHT1 GLN-221; GLU-238; SER-263; ARG-269; TYR-394; PRO-529 AND ARG-603.

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: October 29, 2014
This is version 163 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

External Data

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