Q63961 · EGLN_MOUSE
- ProteinEndoglin
- GeneEng
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids653 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:10625534).
Required for normal structure and integrity of adult vasculature (By similarity).
Regulates the migration of vascular endothelial cells (PubMed:17540773).
Required for normal extraembryonic angiogenesis and for embryonic heart development (PubMed:10625534).
May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (PubMed:28530658).
May play a role in the binding of endothelial cells to integrins. Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:23300529).
Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (By similarity).
Required for normal structure and integrity of adult vasculature (By similarity).
Regulates the migration of vascular endothelial cells (PubMed:17540773).
Required for normal extraembryonic angiogenesis and for embryonic heart development (PubMed:10625534).
May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (PubMed:28530658).
May play a role in the binding of endothelial cells to integrins. Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:23300529).
Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (By similarity).
Miscellaneous
Lacks a RGD motif, contrary to the human protein.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Names & Taxonomy
Protein names
- Recommended nameEndoglin
- Alternative names
- CD Antigen Name
Gene names
Organism names
- Organism
- Strains
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ63961
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type I membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 27-581 | Extracellular | ||||
Sequence: ERVGCDLQPVDPTRGEVTFTTSQVSEGCVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLCLPEAHKDMGATLEWQPRAQTPVQSCRLEGVSGHKEAYILRILPGSEAGPRTVTVMMELSCTSGDAILILHGPPYVSWFIDINHSMQILTTGEYSVKIFPGSKVKGVELPDTPQGLIAEARKLNASIVTSFVELPLVSNVSLRASSCGGVFQTTPAPVVTTPPKDTCSPVLLMSLIQPKCGNQVMTLALNKKHVQTLQCTITGLTFWDSSCQAEDTDDHLVLSSAYSSCGMKVTAHVVSNEVIISFPSGSPPLRKKVQCIDMDSLSFQLGLYLSPHFLQASNTIELGQQAFVQVSVSPLTSEVTVQLDSCHLDLGPEGDMVELIQSRTAKGSCVTLLSPSPEGDPRFSFLLRVYMVPTPTAGTLSCNLALRPSTLSQEVYKTVSMRLNIVSPDLSGKG | ||||||
Transmembrane | 582-606 | Helical | ||||
Sequence: LVLPSVLGITFGAFLIGALLTAALW | ||||||
Topological domain | 607-653 | Cytoplasmic | ||||
Sequence: YIYSHTRGPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA |
Keywords
- Cellular component
Phenotypes & Variants
Disruption phenotype
Full embryonic lethality at about 10.5 dpc. At 9.5 dpc, embryos display abnormal yolk sac vasculature and yolk sac anemia. Mutant embryos are also anemic, probably due to defective hematopoiesis in the yolk sac. In contrast, the embryonic vasculature appears grossly normal in most cases, but heart development is abnormal, and nearly all mutant embryos had enlarged ventricles and dilated outflow tracts. Besides, many had abnormal cardiac looping and displayed pericardial effusion. Heterozygous mice have occasionally abnormally convoluted and dilated blood vessels with disorganized smooth muscle cells surrounding them; these blood vessels are very fragile and rupture easily.
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 35 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for signal, chain, disulfide bond, glycosylation, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-26 | |||||
Sequence: MDRGVLPLPITLLFVIYSFVPTTGLA | ||||||
Chain | PRO_0000021157 | 27-653 | Endoglin | |||
Sequence: ERVGCDLQPVDPTRGEVTFTTSQVSEGCVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLCLPEAHKDMGATLEWQPRAQTPVQSCRLEGVSGHKEAYILRILPGSEAGPRTVTVMMELSCTSGDAILILHGPPYVSWFIDINHSMQILTTGEYSVKIFPGSKVKGVELPDTPQGLIAEARKLNASIVTSFVELPLVSNVSLRASSCGGVFQTTPAPVVTTPPKDTCSPVLLMSLIQPKCGNQVMTLALNKKHVQTLQCTITGLTFWDSSCQAEDTDDHLVLSSAYSSCGMKVTAHVVSNEVIISFPSGSPPLRKKVQCIDMDSLSFQLGLYLSPHFLQASNTIELGQQAFVQVSVSPLTSEVTVQLDSCHLDLGPEGDMVELIQSRTAKGSCVTLLSPSPEGDPRFSFLLRVYMVPTPTAGTLSCNLALRPSTLSQEVYKTVSMRLNIVSPDLSGKGLVLPSVLGITFGAFLIGALLTAALWYIYSHTRGPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA | ||||||
Disulfide bond | 31↔209 | |||||
Sequence: CDLQPVDPTRGEVTFTTSQVSEGCVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLCLPEAHKDMGATLEWQPRAQTPVQSC | ||||||
Disulfide bond | 54↔184 | |||||
Sequence: CVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLC | ||||||
Glycosylation | 89 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 135 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 244↔330 | |||||
Sequence: CTSGDAILILHGPPYVSWFIDINHSMQILTTGEYSVKIFPGSKVKGVELPDTPQGLIAEARKLNASIVTSFVELPLVSNVSLRASSC | ||||||
Glycosylation | 266 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 307 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 322 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 350↔382 | |||||
Sequence: CSPVLLMSLIQPKCGNQVMTLALNKKHVQTLQC | ||||||
Disulfide bond | 363↔442 | |||||
Sequence: CGNQVMTLALNKKHVQTLQCTITGLTFWDSSCQAEDTDDHLVLSSAYSSCGMKVTAHVVSNEVIISFPSGSPPLRKKVQC | ||||||
Disulfide bond | 394↔412 | |||||
Sequence: CQAEDTDDHLVLSSAYSSC | ||||||
Disulfide bond | 493↔549 | |||||
Sequence: CHLDLGPEGDMVELIQSRTAKGSCVTLLSPSPEGDPRFSFLLRVYMVPTPTAGTLSC | ||||||
Disulfide bond | 516 | Interchain | ||||
Sequence: C | ||||||
Modified residue | 641 | Phosphoserine; by TGFBR1 | ||||
Sequence: S | ||||||
Modified residue | 644 | Phosphoserine; by TGFBR1 | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Detected on blood vessels (at protein level) (PubMed:8194490).
Detected on adult pulmonary artery, capillaries supporting the heart muscle and lung alveolar capillary endothelial cells (PubMed:10625534).
Endoglin is restricted to endothelial cells in all tissues except bone marrow and is also found in stromal cells within the connective tissue of intestine, stomach, heart, skeletal muscle, uterus, ovary, oviduct, testis and thymus (PubMed:8194490).
Detected on adult pulmonary artery, capillaries supporting the heart muscle and lung alveolar capillary endothelial cells (PubMed:10625534).
Endoglin is restricted to endothelial cells in all tissues except bone marrow and is also found in stromal cells within the connective tissue of intestine, stomach, heart, skeletal muscle, uterus, ovary, oviduct, testis and thymus (PubMed:8194490).
Developmental stage
Detected in embryo (at protein level). Detected in endothelium from yolk sac vessels.
Gene expression databases
Interaction
Subunit
Homodimer; disulfide-linked (PubMed:8194490).
Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. Interacts with TGFB1 (PubMed:8194490).
It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3. Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry. Interacts with ACVRL1. Can form a heteromeric complex with GDF2 and ACVRL1. Interacts with BMP10. Interacts with DYNLT4. Interacts with ARRB2
Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. Interacts with TGFB1 (PubMed:8194490).
It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3. Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry. Interacts with ACVRL1. Can form a heteromeric complex with GDF2 and ACVRL1. Interacts with BMP10. Interacts with DYNLT4. Interacts with ARRB2
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 27-47 | OR1, N-terminal part | ||||
Sequence: ERVGCDLQPVDPTRGEVTFTT | ||||||
Region | 27-337 | Required for interaction with GDF2 | ||||
Sequence: ERVGCDLQPVDPTRGEVTFTTSQVSEGCVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLCLPEAHKDMGATLEWQPRAQTPVQSCRLEGVSGHKEAYILRILPGSEAGPRTVTVMMELSCTSGDAILILHGPPYVSWFIDINHSMQILTTGEYSVKIFPGSKVKGVELPDTPQGLIAEARKLNASIVTSFVELPLVSNVSLRASSCGGVFQTT | ||||||
Region | 48-201 | OR2 | ||||
Sequence: SQVSEGCVAQAANAVREVHVLFLDFPGMLSHLELTLQASKQNGTETQEVFLVLVSNKNVFVKFQAPEIPLHLAYDSSLVIFQGQPRVNITVLPSLTSRKQILDWAATKGAITSIAALDDPQSIVLQLGQDPKAPFLCLPEAHKDMGATLEWQPR | ||||||
Region | 202-330 | OR1, C-terminal part | ||||
Sequence: AQTPVQSCRLEGVSGHKEAYILRILPGSEAGPRTVTVMMELSCTSGDAILILHGPPYVSWFIDINHSMQILTTGEYSVKIFPGSKVKGVELPDTPQGLIAEARKLNASIVTSFVELPLVSNVSLRASSC | ||||||
Region | 270-282 | Essential for interaction with GDF2 | ||||
Sequence: QILTTGEYSVKIF | ||||||
Domain | 363-510 | ZP | ||||
Sequence: CGNQVMTLALNKKHVQTLQCTITGLTFWDSSCQAEDTDDHLVLSSAYSSCGMKVTAHVVSNEVIISFPSGSPPLRKKVQCIDMDSLSFQLGLYLSPHFLQASNTIELGQQAFVQVSVSPLTSEVTVQLDSCHLDLGPEGDMVELIQSR | ||||||
Region | 624-653 | Disordered | ||||
Sequence: VAAPASSESSSTNHSIGSTQSTPCSTSSMA | ||||||
Compositional bias | 627-653 | Polar residues | ||||
Sequence: PASSESSSTNHSIGSTQSTPCSTSSMA |
Domain
The ZP domain mediates dimerization.
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.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length653
- Mass (Da)70,021
- Last updated2011-07-27 v2
- ChecksumAD9DD2F823FB06A1
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 94 | in Ref. 2; CAA54917 | ||||
Sequence: Q → R | ||||||
Sequence conflict | 287 | in Ref. 1; AAB30196 | ||||
Sequence: V → D | ||||||
Sequence conflict | 572 | in Ref. 2; CAA54917 | ||||
Sequence: I → V | ||||||
Compositional bias | 627-653 | Polar residues | ||||
Sequence: PASSESSSTNHSIGSTQSTPCSTSSMA |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
S69407 EMBL· GenBank· DDBJ | AAB30196.1 EMBL· GenBank· DDBJ | mRNA | ||
X77952 EMBL· GenBank· DDBJ | CAA54917.1 EMBL· GenBank· DDBJ | mRNA | ||
AL772271 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH466542 EMBL· GenBank· DDBJ | EDL08562.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC029080 EMBL· GenBank· DDBJ | AAH29080.1 EMBL· GenBank· DDBJ | mRNA |