P17813 (EGLN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Endoglin

Alternative name(s):
CD_antigen=CD105

Gene names

Name:	ENG
Synonyms:	END

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	658 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors.
Subunit structure	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. Ref.6 Ref.7
Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Endoglin is restricted to endothelial cells in all tissues except bone marrow.
Involvement in disease	Hereditary hemorrhagic telangiectasia 1 (HHT1) [MIM:187300]: Autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary (PAVM), cerebral (CAVM) and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Although the first symptom of HHT1 in children is generally nose bleed, there is an important clinical heterogeneity. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Traceable author statement PubMed 11382917. Source: BHF-UCL artery morphogenesis Inferred from sequence or structural similarity PubMed 8194490. Source: BHF-UCL cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW cell chemotaxis Inferred from mutant phenotype PubMed 18223685. Source: BHF-UCL cell migration involved in endocardial cushion formation Inferred from electronic annotation. Source: Compara central nervous system vasculogenesis Inferred from mutant phenotype Ref.5. Source: BHF-UCL chronological cell aging Inferred from electronic annotation. Source: Compara detection of hypoxia Inferred from direct assay PubMed 18156205PubMed 18156205. Source: BHF-UCL extracellular matrix disassembly Inferred from mutant phenotype PubMed 18223685. Source: BHF-UCL heart looping Inferred from sequence or structural similarity PubMed 8194490. Source: BHF-UCL negative regulation of cell migration Inferred from direct assay PubMed 19736306. Source: BHF-UCL negative regulation of endothelial cell proliferation Inferred from mutant phenotype PubMed 18974388. Source: BHF-UCL negative regulation of nitric-oxide synthase activity Inferred from mutant phenotype PubMed 18974388. Source: BHF-UCL negative regulation of pathway-restricted SMAD protein phosphorylation Inferred from mutant phenotype PubMed 18974388. Source: BHF-UCL negative regulation of protein autophosphorylation Inferred from direct assay PubMed 12015308. Source: BHF-UCL negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 18974388PubMed 18974388. Source: BHF-UCL negative regulation of transforming growth factor beta receptor signaling pathway Traceable author statement PubMed 11382917PubMed 11382917. Source: BHF-UCL patterning of blood vessels Inferred from sequence or structural similarity PubMed 8194490. Source: BHF-UCL positive regulation of BMP signaling pathway Inferred from direct assay PubMed 17068149. Source: BHF-UCL positive regulation of pathway-restricted SMAD protein phosphorylation Inferred from direct assay PubMed 12015308. Source: BHF-UCL positive regulation of systemic arterial blood pressure Inferred from mutant phenotype PubMed 18974388. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 18974388PubMed 18974388. Source: BHF-UCL regulation of cell adhesion Traceable author statement PubMed 11382917PubMed 11382917. Source: BHF-UCL regulation of cell proliferation Traceable author statement PubMed 11382917. Source: BHF-UCL regulation of transforming growth factor beta receptor signaling pathway Inferred from direct assay PubMed 15702480. Source: HGNC smooth muscle tissue development Inferred from sequence or structural similarity PubMed 8194490. Source: BHF-UCL transforming growth factor beta receptor signaling pathway Inferred from direct assay PubMed 18223685. Source: BHF-UCL venous blood vessel morphogenesis Inferred from sequence or structural similarity PubMed 8194490. Source: BHF-UCL wound healing Inferred from mutant phenotype PubMed 18223685. Source: BHF-UCL
Cellular_component	cell surface Inferred from direct assay PubMed 18223685PubMed 18223685. Source: BHF-UCL cytoplasm Inferred from direct assay. Source: HPA endothelial microparticle Inferred from electronic annotation. Source: Compara external side of plasma membrane Inferred from direct assay PubMed 1537377. Source: BHF-UCL extracellular space Inferred from direct assay PubMed 19004009. Source: BHF-UCL nucleus Inferred from direct assay. Source: HPA transforming growth factor beta receptor homodimeric complex Inferred by curator PubMed 1326540. Source: BHF-UCL
Molecular_function	activin binding Traceable author statement PubMed 11382917. Source: BHF-UCL galactose binding Inferred from direct assay PubMed 3262645. Source: BHF-UCL glycosaminoglycan binding Inferred from direct assay PubMed 3262645. Source: BHF-UCL transforming growth factor beta receptor, cytoplasmic mediator activity Inferred from direct assay PubMed 12015308. Source: BHF-UCL transforming growth factor beta-activated receptor activity Inferred from direct assay PubMed 18223685. Source: BHF-UCL transmembrane signaling receptor activity Non-traceable author statement PubMed 18974388. Source: BHF-UCL type I transforming growth factor beta receptor binding Inferred from sequence or structural similarity PubMed 8294451. Source: BHF-UCL type II transforming growth factor beta receptor binding Inferred from sequence or structural similarity PubMed 8294451. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TGFB1	P01137	2	EBI-2834630,EBI-779636

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: P17813-1)

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.

Isoform Short (identifier: P17813-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Ref.4
	Chain	26 – 658	633	Endoglin		PRO_0000021156
Regions
	Topological domain	26 – 586	561	Extracellular Potential
	Transmembrane	587 – 611	25	Helical; Potential
	Topological domain	612 – 658	47	Cytoplasmic Potential
	Motif	399 – 401	3	Cell attachment site Potential
	Compositional bias	336 – 576	241	Ser/Thr-rich
Amino acid modifications
	Modified residue	646	1	Phosphoserine; by TGFBR1 By similarity
	Modified residue	649	1	Phosphoserine; by TGFBR1 By similarity
	Glycosylation	88	1	N-linked (GlcNAc...) Potential
	Glycosylation	102	1	N-linked (GlcNAc...) Potential
	Glycosylation	121	1	N-linked (GlcNAc...) Potential
	Glycosylation	134	1	N-linked (GlcNAc...) Ref.8
	Glycosylation	307	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	619 – 658	40	SPSKR…TSSMA → EYPRPPQ in isoform Short.		VSP_004233
	Natural variant	5	1	T → M. Ref.9 Corresponds to variant rs35400405 [ dbSNP | Ensembl ].		VAR_005192
	Natural variant	8	1	L → P in HHT1. Ref.15		VAR_026774
	Natural variant	49	1	V → F in HHT1. Ref.15		VAR_026775
	Natural variant	52	1	G → V in HHT1. Ref.11 Ref.12		VAR_005193
	Natural variant	53	1	C → R in HHT1. Ref.11 Ref.12 Ref.14		VAR_005194
	Natural variant	107	1	L → R in HHT1. Ref.15		VAR_026776
	Natural variant	149	1	W → C in HHT1. Ref.11 Ref.12		VAR_005195
	Natural variant	160	1	A → D in HHT1. Ref.10		VAR_009120
	Natural variant	192 – 198	7	Missing in HHT1.		VAR_005196
	Natural variant	207	1	Missing in HHT1. Ref.15		VAR_026777
	Natural variant	221	1	L → P in HHT1. Ref.12 Ref.16		VAR_009121
	Natural variant	232 – 233	2	Missing in HHT1.		VAR_026778
	Natural variant	263	1	I → T in HHT1. Ref.15		VAR_026780
	Natural variant	263	1	Missing in HHT1. Ref.15 Ref.16		VAR_026779
	Natural variant	306	1	L → P in HHT1. Ref.11		VAR_005197
	Natural variant	366	1	D → H. Corresponds to variant rs1800956 [ dbSNP | Ensembl ].		VAR_014764
	Natural variant	412	1	C → S in HHT1. Ref.15		VAR_026781
	Natural variant	413	1	G → V in HHT1. Ref.13		VAR_037140
	Natural variant	504	1	V → M in HHT1. Ref.15		VAR_026782
	Natural variant	615	1	S → L in HHT1. Ref.16		VAR_026783
Experimental info
	Sequence conflict	14	1	L → G AA sequence Ref.4
	Sequence conflict	122 – 130	9	SSLVTFQEP → FQPGHLPRA Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified July 15, 1998. Version 2. Checksum: 49CA2CE013298D17	FASTA	658	70,578
	10 20 30 40 50 60 MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA 70 80 90 100 110 120 ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY 130 140 150 160 170 180 NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS 190 200 210 220 230 240 FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL 250 260 270 280 290 300 SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 310 320 330 340 350 360 GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ 370 380 390 400 410 420 TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM 430 440 450 460 470 480 ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS 490 500 510 520 530 540 PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP 550 560 570 580 590 600 IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 610 620 630 640 650 LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA
	Isoform Short [UniParc]. Checksum: 8D8E510E5CB05812	FASTA	625	67,542
	10 20 30 40 50 60 MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA 70 80 90 100 110 120 ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY 130 140 150 160 170 180 NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS 190 200 210 220 230 240 FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL 250 260 270 280 290 300 SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL 310 320 330 340 350 360 GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ 370 380 390 400 410 420 TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM 430 440 450 460 470 480 ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS 490 500 510 520 530 540 PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP 550 560 570 580 590 600 IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF 610 620 LIGALLTAAL WYIYSHTREY PRPPQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]	"Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1." McAllister K.A., Grogg K.M., Johnson D.W., Gallione C.J., Baldwin M.A., Jackson C.E., Helmbold E.A., Markel D.S., McKinnon W.C., Murrell J., McCormick M.K., Pericak-Vance M.A., Heutink P., Oostra B.A., Haitjema T., Westerman C.J., Porteous M.E., Guttmacher A.E., Letarte M., Marchuk D.A. Nat. Genet. 8:345-351(1994) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Liver.
[9]	"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.
[10]	"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.
[11]	"Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles." Gallione C.J., Klaus D.J., Yeh E.Y., Stenzel T.T., Xue Y., Anthony K.B., McAllister K.A., Baldwin M.A., Berg J.N., Lux A., Smith J.D., Vary C.P.H., Craigen W.J., Westermann C.J.J., Warner M.L., Miller Y.E., Jackson C.E., Guttmacher A.E., Marchuk D.A. Hum. Mutat. 11:286-294(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HHT1 VAL-52; ARG-53; CYS-149 AND PRO-306.
[12]	"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.
[13]	"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.
[14]	"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.
[15]	"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France." French Rendu-Osler network Lesca G., Plauchu H., Coulet F., Lefebvre S., Plessis G., Odent S., Riviere S., Leheup B., Goizet C., Carette M.-F., Cordier J.-F., Pinson S., Soubrier F., Calender A., Giraud S. Hum. Mutat. 23:289-299(2004) [PubMed] [Europe PMC] [Abstract] 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.
[16]	"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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00017567. IPI00219625.
PIR	S50831.
RefSeq	NP_000109.1. NM_000118.2. NP_001108225.1. NM_001114753.1.
UniGene	Hs.76753.
3D structure databases
ProteinModelPortal	P17813.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-6246N.
IntAct	P17813. 4 interactions.
MINT	MINT-4529566.
STRING	9606.ENSP00000362299.
PTM databases
PhosphoSite	P17813.
Polymorphism databases
DMDM	3041681.
Proteomic databases
PaxDb	P17813.
PRIDE	P17813.
Protocols and materials databases
DNASU	2022.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000344849; ENSP00000341917; ENSG00000106991. ENST00000373203; ENSP00000362299; ENSG00000106991. ENST00000545345; ENSP00000441025; ENSG00000106991.
GeneID	2022.
KEGG	hsa:2022.
UCSC	uc004bsj.4. human.
Organism-specific databases
CTD	2022.
GeneCards	GC09M130577.
HGNC	HGNC:3349. ENG.
HPA	CAB000096. HPA011862.
MIM	131195. gene. 187300. phenotype.
neXtProt	NX_P17813.
Orphanet	2929. Juvenile gastrointestinal polyposis. 774. Rendu-Osler-Weber disease.
PharmGKB	PA27785.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG46276.
HOGENOM	HOG000112346.
HOVERGEN	HBG005573.
InParanoid	P17813.
KO	K06526.
OMA	SWLIDAN.
OrthoDB	EOG4WWRJG.
PhylomeDB	P17813.
Enzyme and pathway databases
Pathway_Interaction_DB	hif1_tfpathway. HIF-1-alpha transcription factor network.
Gene expression databases
ArrayExpress	P17813.
Bgee	P17813.
CleanEx	HS_ENG.
Genevestigator	P17813.
GermOnline	ENSG00000106991. Homo sapiens.
Family and domain databases
InterPro	IPR001507. ZP_dom. [Graphical view]
Pfam	PF00100. Zona_pellucida. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ENG. human.
GenomeRNAi	2022.
NextBio	8193.
SOURCE	Search...

Entry information

Entry name

EGLN_HUMAN

Accession

Primary (citable) accession number: P17813
Secondary accession number(s): Q14248, Q14926, Q5T9C0

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
Last sequence update:	July 15, 1998
Last modified:	May 29, 2013
This is version 149 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.