LOCUS       NM_000020               4177 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens activin A receptor like type 1 (ACVRL1), transcript
            variant 1, mRNA.
ACCESSION   NM_000020
VERSION     NM_000020.3
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 4177)
  AUTHORS   Al Tabosh,T., Liu,H., Koca,D., Al Tarrass,M., Tu,L., Giraud,S.,
            Delagrange,L., Beaudoin,M., Riviere,S., Grobost,V.,
            Rondeau-Lutz,M., Dupuis,O., Ricard,N., Tillet,E., Machillot,P.,
            Salomon,A., Picart,C., Battail,C., Dupuis-Girod,S., Guignabert,C.,
            Desroches-Castan,A. and Bailly,S.
  TITLE     Impact of heterozygous ALK1 mutations on the transcriptomic
            response to BMP9 and BMP10 in endothelial cells from hereditary
            hemorrhagic telangiectasia and pulmonary arterial hypertension
            donors
  JOURNAL   Angiogenesis 27 (2), 211-227 (2024)
   PUBMED   38294582
  REMARK    GeneRIF: Impact of heterozygous ALK1 mutations on the
            transcriptomic response to BMP9 and BMP10 in endothelial cells from
            hereditary hemorrhagic telangiectasia and pulmonary arterial
            hypertension donors.
REFERENCE   2  (bases 1 to 4177)
  AUTHORS   Kulikauskas,M.R., Oatley,M., Yu,T., Liu,Z., Matsumura,L.,
            Kidder,E., Ruter,D. and Bautch,V.L.
  TITLE     Endothelial cell SMAD6 balances Alk1 function to regulate adherens
            junctions and hepatic vascular development
  JOURNAL   Development 150 (21) (2023)
   PUBMED   37787089
  REMARK    GeneRIF: Endothelial cell SMAD6 balances Alk1 function to regulate
            adherens junctions and hepatic vascular development.
REFERENCE   3  (bases 1 to 4177)
  AUTHORS   Lu,X., Liu,R., Liao,Y., Cui,L., Sun,H., Zhang,D., Wang,B., Fang,L.,
            Guan,X., Yao,Y., Liu,C. and Zhang,Y.
  TITLE     ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors
            in colorectal cancer by promoting USP15-mediated GPX2 stabilization
  JOURNAL   BMC Med 21 (1), 366 (2023)
   PUBMED   37743483
  REMARK    GeneRIF: ACVRL1 drives resistance to multitarget tyrosine kinase
            inhibitors in colorectal cancer by promoting USP15-mediated GPX2
            stabilization.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4177)
  AUTHORS   Sbalchiero,A., Abu Hweij,Y., Mazza,T., Buscarini,E., Scotti,C.,
            Pagella,F., Manfredi,G., Matti,E., Spinozzi,G. and Olivieri,C.
  TITLE     Hereditary hemorrhagic telangiectasia: First demonstration of a
            founder effect in Italy; the ACVRL1 c.289_294del variant originated
            in the country of Bergamo 200 years ago
  JOURNAL   Mol Genet Genomic Med 10 (8), e1972 (2022)
   PUBMED   35620871
  REMARK    GeneRIF: Hereditary hemorrhagic telangiectasia: First demonstration
            of a founder effect in Italy; the ACVRL1 c.289_294del variant
            originated in the country of Bergamo 200 years ago.
REFERENCE   5  (bases 1 to 4177)
  AUTHORS   Johnson,D.W., Berg,J.N., Baldwin,M.A., Gallione,C.J., Marondel,I.,
            Yoon,S.J., Stenzel,T.T., Speer,M., Pericak-Vance,M.A., Diamond,A.,
            Guttmacher,A.E., Jackson,C.E., Attisano,L., Kucherlapati,R.,
            Porteous,M.E. and Marchuk,D.A.
  TITLE     Mutations in the activin receptor-like kinase 1 gene in hereditary
            haemorrhagic telangiectasia type 2
  JOURNAL   Nat Genet 13 (2), 189-195 (1996)
   PUBMED   8640225
REFERENCE   6  (bases 1 to 4177)
  AUTHORS   Johnson,D.W., Berg,J.N., Gallione,C.J., McAllister,K.A.,
            Warner,J.P., Helmbold,E.A., Markel,D.S., Jackson,C.E.,
            Porteous,M.E. and Marchuk,D.A.
  TITLE     A second locus for hereditary hemorrhagic telangiectasia maps to
            chromosome 12
  JOURNAL   Genome Res 5 (1), 21-28 (1995)
   PUBMED   8717052
REFERENCE   7  (bases 1 to 4177)
  AUTHORS   Attisano,L., Carcamo,J., Ventura,F., Weis,F.M., Massague,J. and
            Wrana,J.L.
  TITLE     Identification of human activin and TGF beta type I receptors that
            form heteromeric kinase complexes with type II receptors
  JOURNAL   Cell 75 (4), 671-680 (1993)
   PUBMED   8242742
REFERENCE   8  (bases 1 to 4177)
  AUTHORS   ten Dijke,P., Ichijo,H., Franzen,P., Schulz,P., Saras,J.,
            Toyoshima,H., Heldin,C.H. and Miyazono,K.
  TITLE     Activin receptor-like kinases: a novel subclass of cell-surface
            receptors with predicted serine/threonine kinase activity
  JOURNAL   Oncogene 8 (10), 2879-2887 (1993)
   PUBMED   8397373
REFERENCE   9  (bases 1 to 4177)
  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   10 (bases 1 to 4177)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z22533.1, DN999570.1 and
            AC025259.49.
            
            On Aug 31, 2019 this sequence version replaced NM_000020.2.
            
            Summary: This gene encodes a type I cell-surface receptor for the
            TGF-beta superfamily of ligands. It shares with other type I
            receptors a high degree of similarity in serine-threonine kinase
            subdomains, a glycine- and serine-rich region (called the GS
            domain) preceding the kinase domain, and a short C-terminal tail.
            The encoded protein, sometimes termed ALK1, shares similar domain
            structures with other closely related ALK or activin receptor-like
            kinase proteins that form a subfamily of receptor serine/threonine
            kinases. Mutations in this gene are associated with hemorrhagic
            telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038191.3256212.1,
                                           SRR18074969.2825525.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000388922.9/ ENSP00000373574.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                Z22533.1           87-163
            78-595              DN999570.1         172-689
            596-711             Z22533.1           681-796
            712-722             AC025259.49        169951-169961       c
            723-822             AC025259.49        169648-169747       c
            823-969             AC025259.49        169136-169282       c
            970-1245            AC025259.49        168221-168496       c
            1246-1443           AC025259.49        167488-167685       c
            1444-1574           AC025259.49        164606-164736       c
            1575-4177           AC025259.49        160360-162962       c
FEATURES             Location/Qualifiers
     source          1..4177
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..4177
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /note="activin A receptor like type 1"
                     /db_xref="GeneID:94"
                     /db_xref="HGNC:HGNC:175"
                     /db_xref="MIM:601284"
     exon            1..192
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            193..258
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1709
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /EC_number="2.7.11.30"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; serine/threonine-protein kinase receptor R3;
                     activin A receptor type IL; TGF-B superfamily receptor
                     type I; activin A receptor, type II-like kinase 1; activin
                     A receptor type II-like 1; activin receptor type-1-like"
                     /codon_start=1
                     /product="activin receptor type-1-like isoform 1
                     precursor"
                     /protein_id="NP_000011.2"
                     /db_xref="CCDS:CCDS31804.1"
                     /db_xref="GeneID:94"
                     /db_xref="HGNC:HGNC:175"
                     /db_xref="MIM:601284"
                     /translation="MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGP
                     TCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLV
                     LEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGES
                     SLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWR
                     GLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLI
                     THYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSR
                     NVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFES
                     YKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPT
                     IPNRLAADPVLSGLAQMMRECWYPNPSARLTALRIKKTLQKISNSPEKPKVIQ"
     exon            259..510
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            511..722
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            723..822
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            823..969
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1245
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1443
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1574
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..4177
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1864..1869
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /note="hexamer: AATACA"
     polyA_site      1886
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
     regulatory      4155..4160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /note="hexamer: AATAAA"
     polyA_site      4177
                     /gene="ACVRL1"
                     /gene_synonym="ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2;
                     SKR3; TSR-I"
                     /note="major polyA site"
ORIGIN      
        1 cccagtcccg ggaggctgcc gcgccagctg cgccgagcga gcccctcccc ggctccagcc
       61 cggtccgggg ccgcgcccgg accccagccc gccgtccagc gctggcggtg caactgcggc
      121 cgcgcggtgg aggggaggtg gccccggtcc gccgaaggct agcgccccgc cacccgcaga
      181 gcgggcccag agggaccatg accttgggct cccccaggaa aggccttctg atgctgctga
      241 tggccttggt gacccaggga gaccctgtga agccgtctcg gggcccgctg gtgacctgca
      301 cgtgtgagag cccacattgc aaggggccta cctgccgggg ggcctggtgc acagtagtgc
      361 tggtgcggga ggaggggagg cacccccagg aacatcgggg ctgcgggaac ttgcacaggg
      421 agctctgcag ggggcgcccc accgagttcg tcaaccacta ctgctgcgac agccacctct
      481 gcaaccacaa cgtgtccctg gtgctggagg ccacccaacc tccttcggag cagccgggaa
      541 cagatggcca gctggccctg atcctgggcc ccgtgctggc cttgctggcc ctggtggccc
      601 tgggtgtcct gggcctgtgg catgtccgac ggaggcagga gaagcagcgt ggcctgcaca
      661 gcgagctggg agagtccagt ctcatcctga aagcatctga gcagggcgac agcatgttgg
      721 gggacctcct ggacagtgac tgcaccacag ggagtggctc agggctcccc ttcctggtgc
      781 agaggacagt ggcacggcag gttgccttgg tggagtgtgt gggaaaaggc cgctatggcg
      841 aagtgtggcg gggcttgtgg cacggtgaga gtgtggccgt caagatcttc tcctcgaggg
      901 atgaacagtc ctggttccgg gagactgaga tctataacac agtgttgctc agacacgaca
      961 acatcctagg cttcatcgcc tcagacatga cctcccgcaa ctcgagcacg cagctgtggc
     1021 tcatcacgca ctaccacgag cacggctccc tctacgactt tctgcagaga cagacgctgg
     1081 agccccatct ggctctgagg ctagctgtgt ccgcggcatg cggcctggcg cacctgcacg
     1141 tggagatctt cggtacacag ggcaaaccag ccattgccca ccgcgacttc aagagccgca
     1201 atgtgctggt caagagcaac ctgcagtgtt gcatcgccga cctgggcctg gctgtgatgc
     1261 actcacaggg cagcgattac ctggacatcg gcaacaaccc gagagtgggc accaagcggt
     1321 acatggcacc cgaggtgctg gacgagcaga tccgcacgga ctgctttgag tcctacaagt
     1381 ggactgacat ctgggccttt ggcctggtgc tgtgggagat tgcccgccgg accatcgtga
     1441 atggcatcgt ggaggactat agaccaccct tctatgatgt ggtgcccaat gaccccagct
     1501 ttgaggacat gaagaaggtg gtgtgtgtgg atcagcagac ccccaccatc cctaaccggc
     1561 tggctgcaga cccggtcctc tcaggcctag ctcagatgat gcgggagtgc tggtacccaa
     1621 acccctctgc ccgactcacc gcgctgcgga tcaagaagac actacaaaaa attagcaaca
     1681 gtccagagaa gcctaaagtg attcaatagc ccaggagcac ctgattcctt tctgcctgca
     1741 gggggctggg ggggtggggg gcagtggatg gtgccctatc tgggtagagg tagtgtgagt
     1801 gtggtgtgtg ctggggatgg gcagctgcgc ctgcctgctc ggcccccagc ccacccagcc
     1861 aaaaatacag ctgggctgaa acctgatccc ctgctgtctg gcctgctcaa agcggcaggc
     1921 tccctgacgc ctggctctct ccccacccct atggccagca tggtgcaccc cctaccactc
     1981 ccgggacagg atgcaaaaga ggctccagag tcagagtgcc aagccaggga atcccagtcc
     2041 cagactcaga gcccgggcct gcactttgcc ccctgccctt gatcaacccc actgccccac
     2101 cagagctgcc agggtggcac agggccctgt ccagcccctg gcacacactt ccctgccagg
     2161 cctcagcctc tagcataagc tccagagagc cagggcccat cagtttctct ctgtggattt
     2221 gtatctcagc tccatgatgc cttgggcttt ctgtctcctc aacaagagtg cagcttgctg
     2281 aatgtcagct gcctgagaga gctggggcct gacttactag ggcattaaat cctaagaggt
     2341 cctactgagg tgtggcagga tcacaggcca gtggaaaaag ggcaggtcag atgggcaagg
     2401 cccaggactt tcagattaac tgagaggata tcgaggccaa gcatggcagg gggaaggtca
     2461 gtgggtgtca agagacccag gtctgacccc ggatgtttgc tccatgtgac aaaagcaggc
     2521 ctgtctcagg accttttctt ttcttttttc cttctttttt tttttgacac ggagtttcgc
     2581 tcttgttgtc caggctagag tgcaatggca tgatcccagc tcaccgcaac gtctacctcc
     2641 caggttcaaa tcattctctt gcctcagact cccgagtagc tgggattaca ggcacatgcc
     2701 accatgcctg gctaattttg tatatttagt agaaacaggg tttcaccatg ctggccatgc
     2761 tggtctcgaa ctcctgacct caggtgttcc acctacctca gcctcccaaa gtgctggggt
     2821 tacaggtgtg agccatcgcg cctggccagg acctttgttt cttatctaca tattggaaga
     2881 tttggtcctg atgtcctttg aggcttcttt agctctagtt ctctgacact tcagcctata
     2941 tcacagctaa cttcttcagt ctcatctatt ccttatgctc cagcccctgg caatttgcct
     3001 caagatgggg gtttgaaaat aactttacct gactcaagga gtgtctggag cacctcctag
     3061 tctaagtctg caagctccag ttcttgccta aaaccatgcc agtggccacc cttgggctca
     3121 gacagctctg ggccttttga ccacaagcca gcccctcgcc ctctctgtgg catagtcttc
     3181 tctgccccag gactgcaggg cggcttcctc caaggcttcc aaggctcaaa agaaatttgg
     3241 ctccatccaa gaaggctcca gctcccctac tggcccctgg ctcaggccca cacccctggc
     3301 caggcccaga gagtgtgtct caggagaatt caatggctct agagagacac acagaaagtt
     3361 tggcatttgg aaatttcaag gatgtatgta tgctcacgta tggagcaggt tgtcctggtc
     3421 cctgggtgca gggaagtggg ctgcagggaa gtggattgga ggggagcttg aggaatataa
     3481 ggagcggggg tggagactca ggctatggac aaggacagcc ccaaggttgg gaagacctgg
     3541 ccttagtcgt cctcagccta ggggcagggc agtgaagaaa gctctccccg ctcctgctgt
     3601 aatgacccag agtagcctcc ccaggccggc atcttatgtg tgtcttccac catcctcatg
     3661 gtggcacttt tctaggcctg tctcccagca ttgtgcaagg ctcggaagag aaccaggaag
     3721 tgaaactggg tgaaaacaga aagctcaatg gatgggctag gttcccagat cattagggca
     3781 gagtttgcac gtcctctggt cactggaatc cacccagccc acgaatcatc tccctcttga
     3841 aggattttat ttctactggg ttttggaaca aactcctgct gagaccccac agccagaaac
     3901 tgaaagcagc agctccccaa agcctggaaa atccctaaga gaaggcctgg ggcaggaagt
     3961 ggagtgacag gggacaggta gagagaaggg ggcccaatgg ccagggagtg aaggaggtgg
     4021 cgttgctgag agcagtctgc acatgcttct gtctgagtgc aggaaggtgt tccagggtcg
     4081 aaattacact tctcgtacct ggagacgctg tttgtgggag cactgggctc atgcctggca
     4141 cacaataggt ctgcaataaa ccatggttaa atcctga
//
