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P17813

- EGLN_HUMAN

UniProt

P17813 - EGLN_HUMAN

Protein

Endoglin

Gene

ENG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    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 binding Source: IntAct
    5. protein homodimerization activity Source: BHF-UCL
    6. transforming growth factor beta-activated receptor activity Source: BHF-UCL
    7. transforming growth factor beta binding Source: BHF-UCL
    8. transforming growth factor beta receptor, cytoplasmic mediator activity Source: BHF-UCL
    9. transmembrane signaling receptor activity Source: BHF-UCL
    10. type II transforming growth factor beta receptor binding Source: BHF-UCL
    11. 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

    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. nucleus Source: HPA
    7. transforming growth factor beta receptor homodimeric complex Source: BHF-UCL

    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.
    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

    ArrayExpressiP17813.
    BgeeiP17813.
    CleanExiHS_ENG.
    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.
    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

    MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS    50
    KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS 100
    VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA 150
    AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT 200
    PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV 250
    LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 300
    GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC 350
    SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG 400
    DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF 450
    QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE 500
    GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT 550
    VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 600
    LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST 650
    PCSTSSMA 658
    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.
    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.
    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

    ArrayExpressi P17813.
    Bgeei P17813.
    CleanExi HS_ENG.
    Genevestigatori P17813.

    Family and domain databases

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

    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 1, 2014
    This is version 162 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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