LOCUS       NM_001114753            2946 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens endoglin (ENG), transcript variant 1, mRNA.
ACCESSION   NM_001114753
VERSION     NM_001114753.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2946)
  AUTHORS   Tusseau,M., Eyries,M., Chatron,N., Coulet,F., Guichet,A., Colin,E.,
            Demeer,B., Maillard,H., Thevenon,J., Lavigne,C., Saillour,V.,
            Paris,C., De Sainte Agathe,J.M., Pujalte,M., Guilhem,A.,
            Dupuis-Girod,S. and Lesca,G.
  TITLE     Genome sequencing identify chromosome 9 inversions disrupting ENG
            in 2 unrelated HHT families
  JOURNAL   Eur J Med Genet 68, 104919 (2024)
   PUBMED   38355093
  REMARK    GeneRIF: Genome sequencing identify chromosome 9 inversions
            disrupting ENG in 2 unrelated HHT families.
REFERENCE   2  (bases 1 to 2946)
  AUTHORS   Rajan,R., Hanifah,M., Mariappan,V., Anand,M. and Balakrishna
            Pillai,A.
  TITLE     Soluble Endoglin and Syndecan-1 levels predicts the clinical
            outcome in COVID-19 patients
  JOURNAL   Microb Pathog 188, 106558 (2024)
   PUBMED   38272329
  REMARK    GeneRIF: Soluble Endoglin and Syndecan-1 levels predicts the
            clinical outcome in COVID-19 patients.
REFERENCE   3  (bases 1 to 2946)
  AUTHORS   Gariballa,N., Badawi,S. and Ali,B.R.
  TITLE     Endoglin mutants retained in the endoplasmic reticulum exacerbate
            loss of function in hereditary hemorrhagic telangiectasia type 1
            (HHT1) by exerting dominant negative effects on the wild type
            allele
  JOURNAL   Traffic 25 (1), e12928 (2024)
   PUBMED   38272447
  REMARK    GeneRIF: Endoglin mutants retained in the endoplasmic reticulum
            exacerbate loss of function in hereditary hemorrhagic
            telangiectasia type 1 (HHT1) by exerting dominant negative effects
            on the wild type allele.
REFERENCE   4  (bases 1 to 2946)
  AUTHORS   Rius,C., Smith,J.D., Almendro,N., Langa,C., Botella,L.M.,
            Marchuk,D.A., Vary,C.P. and Bernabeu,C.
  TITLE     Cloning of the promoter region of human endoglin, the target gene
            for hereditary hemorrhagic telangiectasia type 1
  JOURNAL   Blood 92 (12), 4677-4690 (1998)
   PUBMED   9845534
REFERENCE   5  (bases 1 to 2946)
  AUTHORS   Bellon,T., Corbi,A., Lastres,P., Cales,C., Cebrian,M., Vera,S.,
            Cheifetz,S., Massague,J., Letarte,M. and Bernabeu,C.
  TITLE     Identification and expression of two forms of the human
            transforming growth factor-beta-binding protein endoglin with
            distinct cytoplasmic regions
  JOURNAL   Eur J Immunol 23 (9), 2340-2345 (1993)
   PUBMED   8370410
REFERENCE   6  (bases 1 to 2946)
  AUTHORS   Austin,E.D., Phillips,J.A. III and Loyd,J.E.
  TITLE     Heritable Pulmonary Arterial Hypertension Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301658
REFERENCE   7  (bases 1 to 2946)
  AUTHORS   McDonald,J. and Stevenson,D.A.
  TITLE     Hereditary Hemorrhagic Telangiectasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301525
REFERENCE   8  (bases 1 to 2946)
  AUTHORS   Cheifetz,S., Bellon,T., Cales,C., Vera,S., Bernabeu,C., Massague,J.
            and Letarte,M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   9  (bases 1 to 2946)
  AUTHORS   Lastres,P., Bellon,T., Cabanas,C., Sanchez-Madrid,F., Acevedo,A.,
            Gougos,A., Letarte,M. and Bernabeu,C.
  TITLE     Regulated expression on human macrophages of endoglin, an
            Arg-Gly-Asp-containing surface antigen
  JOURNAL   Eur J Immunol 22 (2), 393-397 (1992)
   PUBMED   1537377
REFERENCE   10 (bases 1 to 2946)
  AUTHORS   Gougos,A. and Letarte,M.
  TITLE     Primary structure of endoglin, an RGD-containing glycoprotein of
            human endothelial cells
  JOURNAL   J Biol Chem 265 (15), 8361-8364 (1990)
   PUBMED   1692830
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB079257.1, X72012.1 and
            BC014271.2.
            
            On Feb 24, 2020 this sequence version replaced NM_001114753.2.
            
            Summary: This gene encodes a homodimeric transmembrane protein
            which is a major glycoprotein of the vascular endothelium. This
            protein is a component of the transforming growth factor beta
            receptor complex and it binds to the beta1 and beta3 peptides with
            high affinity. Mutations in this gene cause hereditary hemorrhagic
            telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an
            autosomal dominant multisystemic vascular dysplasia. This gene may
            also be involved in preeclampsia and several types of cancer.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform (1,
            also known as L-endoglin).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC014271.2, J05481.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373203.9/ ENSP00000362299.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-151               DB079257.1         116-266
            152-422             X72012.1           130-400
            423-2946            BC014271.2         272-2795
FEATURES             Location/Qualifiers
     source          1..2946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2946
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /note="endoglin"
                     /db_xref="GeneID:2022"
                     /db_xref="HGNC:HGNC:3349"
                     /db_xref="MIM:131195"
     exon            1..370
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     CDS             304..2280
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; CD105 antigen; soluble endoglin"
                     /codon_start=1
                     /product="endoglin isoform 1 precursor"
                     /protein_id="NP_001108225.1"
                     /db_xref="CCDS:CCDS48029.1"
                     /db_xref="GeneID:2022"
                     /db_xref="HGNC:HGNC:3349"
                     /db_xref="MIM:131195"
                     /translation="MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTY
                     TTSQVSKGCVAQAPNAILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVN
                     SSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAA
                     ELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEA
                     HILRVLPGHSAGPRTVTVKVELSCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGE
                     YSFKIFPEKNIRGFKLPDTPQGLLGEARMLNASIVASFVELPLASIVSLHASSCGGRL
                     QTSPAPIQTTPPKDTCSPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDP
                     SCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSF
                     QLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQ
                     GRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHR
                     TVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKRE
                     PVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA"
     exon            371..522
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            523..663
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            664..826
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            827..992
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1119
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1294
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1437
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1575
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1614
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1731
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1989
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2044
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            2045..2155
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2946
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2925..2930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /note="hexamer: AATAAA"
     polyA_site      2946
                     /gene="ENG"
                     /gene_synonym="END; HHT1; ORW1"
                     /note="major polyA site"
ORIGIN      
        1 ataccacagc cttcatctgc gccctggggc caggactgct gctgtcactg ccatccattg
       61 gagcccagca ccccctcccc gcccatcctt cggacagcaa ctccagccca gccccgcgtc
      121 cctgtgtcca cttctcctga cccctcggcc gccaccccag aaggctggag cagggacgcc
      181 gtcgctccgg ccgcctgctc ccctcgggtc cccgtgcgag cccacgccgg ccccggtgcc
      241 cgcccgcagc cctgccactg gacacaggat aaggcccagc gcacaggccc ccacgtggac
      301 agcatggacc gcggcacgct ccctctggct gttgccctgc tgctggccag ctgcagcctc
      361 agccccacaa gtcttgcaga aacagtccat tgtgaccttc agcctgtggg ccccgagagg
      421 ggcgaggtga catataccac tagccaggtc tcgaagggct gcgtggctca ggcccccaat
      481 gccatccttg aagtccatgt cctcttcctg gagttcccaa cgggcccgtc acagctggag
      541 ctgactctcc aggcatccaa gcaaaatggc acctggcccc gagaggtgct tctggtcctc
      601 agtgtaaaca gcagtgtctt cctgcatctc caggccctgg gaatcccact gcacttggcc
      661 tacaattcca gcctggtcac cttccaagag cccccggggg tcaacaccac agagctgcca
      721 tccttcccca agacccagat ccttgagtgg gcagctgaga ggggccccat cacctctgct
      781 gctgagctga atgaccccca gagcatcctc ctccgactgg gccaagccca ggggtcactg
      841 tccttctgca tgctggaagc cagccaggac atgggccgca cgctcgagtg gcggccgcgt
      901 actccagcct tggtccgggg ctgccacttg gaaggcgtgg ccggccacaa ggaggcgcac
      961 atcctgaggg tcctgccggg ccactcggcc gggccccgga cggtgacggt gaaggtggaa
     1021 ctgagctgcg cacccgggga tctcgatgcc gtcctcatcc tgcagggtcc cccctacgtg
     1081 tcctggctca tcgacgccaa ccacaacatg cagatctgga ccactggaga atactccttc
     1141 aagatctttc cagagaaaaa cattcgtggc ttcaagctcc cagacacacc tcaaggcctc
     1201 ctgggggagg cccggatgct caatgccagc attgtggcat ccttcgtgga gctaccgctg
     1261 gccagcattg tctcacttca tgcctccagc tgcggtggta ggctgcagac ctcacccgca
     1321 ccgatccaga ccactcctcc caaggacact tgtagcccgg agctgctcat gtccttgatc
     1381 cagacaaagt gtgccgacga cgccatgacc ctggtactaa agaaagagct tgttgcgcat
     1441 ttgaagtgca ccatcacggg cctgaccttc tgggacccca gctgtgaggc agaggacagg
     1501 ggtgacaagt ttgtcttgcg cagtgcttac tccagctgtg gcatgcaggt gtcagcaagt
     1561 atgatcagca atgaggcggt ggtcaatatc ctgtcgagct catcaccaca gcggaaaaag
     1621 gtgcactgcc tcaacatgga cagcctctct ttccagctgg gcctctacct cagcccacac
     1681 ttcctccagg cctccaacac catcgagccg gggcagcaga gctttgtgca ggtcagagtg
     1741 tccccatccg tctccgagtt cctgctccag ttagacagct gccacctgga cttggggcct
     1801 gagggaggca ccgtggaact catccagggc cgggcggcca agggcaactg tgtgagcctg
     1861 ctgtccccaa gccccgaggg tgacccgcgc ttcagcttcc tcctccactt ctacacagta
     1921 cccataccca aaaccggcac cctcagctgc acggtagccc tgcgtcccaa gaccgggtct
     1981 caagaccagg aagtccatag gactgtcttc atgcgcttga acatcatcag ccctgacctg
     2041 tctggttgca caagcaaagg cctcgtcctg cccgccgtgc tgggcatcac ctttggtgcc
     2101 ttcctcatcg gggccctgct cactgctgca ctctggtaca tctactcgca cacgcgttcc
     2161 cccagcaagc gggagcccgt ggtggcggtg gctgccccgg cctcctcgga gagcagcagc
     2221 accaaccaca gcatcgggag cacccagagc accccctgct ccaccagcag catggcatag
     2281 ccccggcccc ccgcgctcgc ccagcaggag agactgagca gccgccagct gggagcactg
     2341 gtgtgaactc accctgggag ccagtcctcc actcgaccca gaatggagcc tgctctccgc
     2401 gcctaccctt cccgcctccc tctcagaggc ctgctgccag tgcagccact ggcttggaac
     2461 accttggggt ccctccaccc cacagaacct tcaacccagt gggtctggga tatggctgcc
     2521 caggagacag accacttgcc acgctgttgt aaaaacccaa gtccctgtca tttgaacctg
     2581 gatccagcac tggtgaactg agctgggcag gaagggagaa cttgaaacag attcaggcca
     2641 gcccagccag gccaacagca cctccccgct gggaagagaa gagggcccag cccagagcca
     2701 cctggatcta tccctgcggc ctccacacct gaacttgcct aactaactgg caggggagac
     2761 aggagcctag cggagcccag cctgggagcc cagagggtgg caagaacagt gggcgttggg
     2821 agcctagctc ctgccacatg gagccccctc tgccggtcgg gcagccagca gagggggagt
     2881 agccaagctg cttgtcctgg gcctgcccct gtgtattcac caccaataaa tcagaccatg
     2941 aaacca
//
