LOCUS       NM_001111067            3332 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens activin A receptor type 1 (ACVR1), transcript variant
            2, mRNA.
ACCESSION   NM_001111067
VERSION     NM_001111067.4
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 3332)
  AUTHORS   Nagar,G., Gupta,S.R.R., Rustagi,V., Pramod,R.K., Singh,A.,
            Pahuja,M. and Singh,I.K.
  TITLE     Unlocking the Door for Precision Medicine in Rare Conditions:
            Structural and Functional Consequences of Missense ACVR1 Variants
  JOURNAL   OMICS 28 (10), 526-536 (2024)
   PUBMED   39288033
  REMARK    GeneRIF: Unlocking the Door for Precision Medicine in Rare
            Conditions: Structural and Functional Consequences of Missense
            ACVR1 Variants.
REFERENCE   2  (bases 1 to 3332)
  AUTHORS   Shen,H., Gao,Y., Ge,D., Tan,M., Yin,Q., Wei,T.W., He,F., Lee,T.Y.,
            Li,Z., Chen,Y., Yang,Q., Liu,Z., Li,X., Chen,Z., Yang,Y., Zhang,Z.,
            Thistlethwaite,P.A., Wang,J., Malhotra,A., Yuan,J.X., Shyy,J.Y. and
            Gong,K.
  TITLE     BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells:
            Implication in Pulmonary Hypertension
  JOURNAL   Circulation 150 (2), 132-150 (2024)
   PUBMED   38557054
  REMARK    GeneRIF: BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells:
            Implication in Pulmonary Hypertension.
REFERENCE   3  (bases 1 to 3332)
  AUTHORS   Liu,D., Li,Z., Tan,D., An,Y., Chu,L., Chen,T., Li,W., Zhou,A.,
            Xiang,R., Zhang,L., Qu,Y. and Qi,W.
  TITLE     BMP-ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors in
            B-Cell Lymphoma
  JOURNAL   Adv Sci (Weinh) 11 (12), e2306499 (2024)
   PUBMED   38229201
  REMARK    GeneRIF: BMP-ACVR1 Axis is Critical for Efficacy of PRC2 Inhibitors
            in B-Cell Lymphoma.
REFERENCE   4  (bases 1 to 3332)
  AUTHORS   Yang,Y.S., Lin,C., Ma,H., Xie,J., Kaplan,F.S., Gao,G. and Shim,J.H.
  TITLE     AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in
            Fibrodysplasia Ossificans Progressiva
  JOURNAL   Biomolecules 13 (9), 1364 (2023)
   PUBMED   37759764
  REMARK    GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H]
            Signaling in Fibrodysplasia Ossificans Progressiva.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3332)
  AUTHORS   Katagiri,T., Tsukamoto,S., Kuratani,M., Tsuji,S., Nakamura,K.,
            Ohte,S., Kawaguchi,Y. and Takaishi,K.
  TITLE     A blocking monoclonal antibody reveals dimerization of
            intracellular domains of ALK2 associated with genetic disorders
  JOURNAL   Nat Commun 14 (1), 2960 (2023)
   PUBMED   37231012
  REMARK    GeneRIF: A blocking monoclonal antibody reveals dimerization of
            intracellular domains of ALK2 associated with genetic disorders.
            Erratum:[Nat Commun. 2023 Sep 28;14(1):6054. doi:
            10.1038/s41467-023-41873-8.. PMID: 37770526]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3332)
  AUTHORS   ten Dijke,P., Yamashita,H., Sampath,T.K., Reddi,A.H., Estevez,M.,
            Riddle,D.L., Ichijo,H., Heldin,C.H. and Miyazono,K.
  TITLE     Identification of type I receptors for osteogenic protein-1 and
            bone morphogenetic protein-4
  JOURNAL   J Biol Chem 269 (25), 16985-16988 (1994)
   PUBMED   8006002
REFERENCE   7  (bases 1 to 3332)
  AUTHORS   Tsuchida,K., Mathews,L.S. and Vale,W.W.
  TITLE     Cloning and characterization of a transmembrane serine kinase that
            acts as an activin type I receptor
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 11242-11246 (1993)
   PUBMED   8248234
REFERENCE   8  (bases 1 to 3332)
  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   9  (bases 1 to 3332)
  AUTHORS   Matsuzaki,K., Xu,J., Wang,F., McKeehan,W.L., Krummen,L. and Kan,M.
  TITLE     A widely expressed transmembrane serine/threonine kinase that does
            not bind activin, inhibin, transforming growth factor beta, or bone
            morphogenic factor
  JOURNAL   J Biol Chem 268 (17), 12719-12723 (1993)
   PUBMED   8389764
REFERENCE   10 (bases 1 to 3332)
  AUTHORS   Akesson,L.S. and Savarirayan,R.
  TITLE     Fibrodysplasia Ossificans Progressiva
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32525643
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013731.10, AK313630.1,
            L02911.1, KU177885.1 and BC033867.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 28, 2019 this sequence version replaced NM_001111067.3.
            
            Summary: Activins are dimeric growth and differentiation factors
            which belong to the transforming growth factor-beta (TGF-beta)
            superfamily of structurally related signaling proteins. Activins
            signal through a heteromeric complex of receptor serine kinases
            which include at least two type I ( I and IB) and two type II (II
            and IIB) receptors. These receptors are all transmembrane proteins,
            composed of a ligand-binding extracellular domain with
            cysteine-rich region, a transmembrane domain, and a cytoplasmic
            domain with predicted serine/threonine specificity. Type I
            receptors are essential for signaling; and type II receptors are
            required for binding ligands and for expression of type I
            receptors. Type I and II receptors form a stable complex after
            ligand binding, resulting in phosphorylation of type I receptors by
            type II receptors. This gene encodes activin A type I receptor
            which signals a particular transcriptional response in concert with
            activin type II receptors. Mutations in this gene are associated
            with fibrodysplasia ossificans progressive. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) has an alternate 5' UTR
            compared to variant 1. All seven variants encode the same protein.
            
            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 :: SRR14038195.1374765.1,
                                           SRR14038194.2990516.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434821.7/ ENSP00000405004.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-490               AC013731.10        110765-111254       c
            491-817             AK313630.1         1-327
            818-927             L02911.1           441-550
            928-1406            AK313630.1         436-914
            1407-1509           KU177885.1         690-792
            1510-2247           AK313630.1         1018-1755
            2248-3332           BC033867.1         1961-3045
FEATURES             Location/Qualifiers
     source          1..3332
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..3332
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /note="activin A receptor type 1"
                     /db_xref="GeneID:90"
                     /db_xref="HGNC:HGNC:171"
                     /db_xref="MIM:102576"
     exon            1..535
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            536..710
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            711..784
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     CDS             718..2247
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /EC_number="2.7.11.30"
                     /note="hydroxyalkyl-protein kinase; TGF-B superfamily
                     receptor type I; serine/threonine-protein kinase receptor
                     R1; activin A receptor, type II-like kinase 2; activin
                     receptor type I; activin receptor-like kinase 2"
                     /codon_start=1
                     /product="activin receptor type-1 precursor"
                     /protein_id="NP_001104537.1"
                     /db_xref="CCDS:CCDS2206.1"
                     /db_xref="GeneID:90"
                     /db_xref="HGNC:HGNC:171"
                     /db_xref="MIM:102576"
                     /translation="MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGN
                     EDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRN
                     ITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
                     DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGR
                     YGEVWRGSWQGENVAVKIFSSRDEKSWFRETELYNTVMLRHENILGFIASDMTSRHSS
                     TQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAH
                     RDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQ
                     VDCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCV
                     DQQRPNIPNRWFSDPTLTSLAKLMKECWYQNPSARLTALRIKKTLTKIDNSLDKLKTD
                     C"
     exon            785..1048
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1260
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1360
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1507
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1783
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1784..1981
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            1982..2112
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..3332
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3311..3316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /note="hexamer: AATAAA"
     polyA_site      3332
                     /gene="ACVR1"
                     /gene_synonym="ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; SKR1;
                     TSRI"
                     /note="major polyA site"
ORIGIN      
        1 gctctttgca gccgccgccg ccgccgcagc ctccccctcg gcgcaggggg aacttttcta
       61 ctctctgtga cggtctcccc cgccgccccc gggggcaagc ccagctggtc cgcccgcccc
      121 gcccgcggtc gtgctcccag cccgagcctc tgcgcctcgg gaagtttatt ctgcccgccc
      181 tcctcccctt cctcctcctc ttcaccccgc ctccccgccc tcccccggct ctttcccccg
      241 ggtggctgcc gctgccgccg ctgccgctgc cagcctgctc ctcggccagc cgcgccggcc
      301 ccagggccgg gaagctcccg gccccacgca ccgctccgct gcagccaccg cagccgccgc
      361 cgctctgggc cggccctcgg cccccggctc ccggccccgc agagttccgg gctccctcgc
      421 cggctgcacc gccccgcccc gccccgcgcc gccccgcgcc gcgccgacct gcagcgcccg
      481 gctgcctcgc actccgcctc ccccggctca gcccccggcc gcggcgggac ccgagcctgg
      541 agcattggta agcgtcacac tgccaaagtg agagctgctg gagaactcat aatcccagga
      601 acgcctcttc tactctccga gtaccccagt gaccagagtg agagaagctc tgaacgaggg
      661 cacgcggctt gaaggactgt gggcagatgt gaccaagagc ctgcattaag ttgtacaatg
      721 gtagatggag tgatgattct tcctgtgctt atcatgattg ctctcccctc ccctagtatg
      781 gaagatgaga agcccaaggt caaccccaaa ctctacatgt gtgtgtgtga aggtctctcc
      841 tgcggtaatg aggaccactg tgaaggccag cagtgctttt cctcactgag catcaacgat
      901 ggcttccacg tctaccagaa aggctgcttc caggtttatg agcagggaaa gatgacctgt
      961 aagaccccgc cgtcccctgg ccaagccgtg gagtgctgcc aaggggactg gtgtaacagg
     1021 aacatcacgg cccagctgcc cactaaagga aaatccttcc ctggaacaca gaatttccac
     1081 ttggaggttg gcctcattat tctctctgta gtgttcgcag tatgtctttt agcctgcctg
     1141 ctgggagttg ctctccgaaa atttaaaagg cgcaaccaag aacgcctcaa tccccgagac
     1201 gtggagtatg gcactatcga agggctcatc accaccaatg ttggagacag cactttagca
     1261 gatttattgg atcattcgtg tacatcagga agtggctctg gtcttccttt tctggtacaa
     1321 agaacagtgg ctcgccagat tacactgttg gagtgtgtcg ggaaaggcag gtatggtgag
     1381 gtgtggaggg gcagctggca aggggagaat gttgccgtga agatcttctc ctcccgtgat
     1441 gagaagtcat ggttcaggga aacggaattg tacaacactg tgatgctgag gcatgaaaat
     1501 atcttaggtt tcattgcttc agacatgaca tcaagacact ccagtaccca gctgtggtta
     1561 attacacatt atcatgaaat gggatcgttg tacgactatc ttcagcttac tactctggat
     1621 acagttagct gccttcgaat agtgctgtcc atagctagtg gtcttgcaca tttgcacata
     1681 gagatatttg ggacccaagg gaaaccagcc attgcccatc gagatttaaa gagcaaaaat
     1741 attctggtta agaagaatgg acagtgttgc atagcagatt tgggcctggc agtcatgcat
     1801 tcccagagca ccaatcagct tgatgtgggg aacaatcccc gtgtgggcac caagcgctac
     1861 atggcccccg aagttctaga tgaaaccatc caggtggatt gtttcgattc ttataaaagg
     1921 gtcgatattt gggcctttgg acttgttttg tgggaagtgg ccaggcggat ggtgagcaat
     1981 ggtatagtgg aggattacaa gccaccgttc tacgatgtgg ttcccaatga cccaagtttt
     2041 gaagatatga ggaaggtagt ctgtgtggat caacaaaggc caaacatacc caacagatgg
     2101 ttctcagacc cgacattaac ctctctggcc aagctaatga aagaatgctg gtatcaaaat
     2161 ccatccgcaa gactcacagc actgcgtatc aaaaagactt tgaccaaaat tgataattcc
     2221 ctcgacaaat tgaaaactga ctgttgacat tttcatagtg tcaagaagga agatttgacg
     2281 ttgttgtcat tgtccagctg ggacctaatg ctggcctgac tggttgtcag aatggaatcc
     2341 atctgtctcc ctccccaaat ggctgctttg acaaggcaga cgtcgtaccc agccatgtgt
     2401 tggggagaca tcaaaaccac cctaacctcg ctcgatgact gtgaactggg catttcacga
     2461 actgttcaca ctgcagagac taatgttgga cagacactgt tgcaaaggta gggactggag
     2521 gaacacagag aaatcctaaa agagatctgg gcattaagtc agtggctttg catagctttc
     2581 acaagtctcc tagacactcc ccacgggaaa ctcaaggagg tggtgaattt ttaatcagca
     2641 atattgcctg tgcttctctt ctttattgca ctaggaattc tttgcattcc ttacttgcac
     2701 tgttactctt aattttaaag acccaacttg ccaaaatgtt ggctgcgtac tccactggtc
     2761 tgtctttgga taataggaat tcaatttggc aaaacaaaat gtaatgtcag actttgctgc
     2821 attttacaca tgtgctgatg tttacaatga tgccgaacat taggaattgt ttatacacaa
     2881 ctttgcaaat tatttattac ttgtgcactt agtagttttt acaaaactgc tttgtgcata
     2941 tgttaaagct tatttttatg tggtcttatg attttattac agaaatgttt ttaacactat
     3001 actctaaaat ggacattttc ttttattatc agttaaaatc acattttaag tgcttcacat
     3061 ttgtatgtgt gtagactgta actttttttc agttcatatg cagaacgtat ttagccatta
     3121 cccacgtgac accaccgaat atattactga tttagaagca aagatttcag tagaatttta
     3181 gtcctgaacg ctacggggaa aatgcatttt cttcagaatt atccattacg tgcatttaaa
     3241 ctctgccaga aaaaaataac tattttgttt taatctactt tttgtattta gtagttattt
     3301 gtataaatta aataaactgt tttcaagtca aa
//
