LOCUS       NM_001371415            3339 bp    mRNA    linear   PRI 17-NOV-2024
DEFINITION  Homo sapiens angiotensin converting enzyme 2 (ACE2), transcript
            variant 1, mRNA.
ACCESSION   NM_001371415
VERSION     NM_001371415.1
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 3339)
  AUTHORS   Do,T.L., Tachibana,K., Yamamoto,N., Ando,K., Isoda,T. and Kihara,T.
  TITLE     Interaction of SARS-CoV-2 Spike protein with ACE2 induces cortical
            actin modulation, including dephosphorylation of ERM proteins and
            reduction of cortical stiffness
  JOURNAL   Hum Cell 38 (1), 3 (2024)
   PUBMED   39436480
  REMARK    GeneRIF: Interaction of SARS-CoV-2 Spike protein with ACE2 induces
            cortical actin modulation, including dephosphorylation of ERM
            proteins and reduction of cortical stiffness.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3339)
  AUTHORS   Thiede,J.M., Dick,J.K., Jarjour,N.N., Krishna,V.D., Qian,L.,
            Sangala,J., Benzow,K., Karanjeet,K., Chin,S., Rainwater,O.,
            Cheeran,M.C., Hogquist,K.A., Jameson,S.C., Hart,G.T., Bold,T.D. and
            Koob,M.D.
  TITLE     Human ACE2 Gene Replacement Mice Support SARS-CoV-2 Viral
            Replication and Nonlethal Disease Progression
  JOURNAL   Immunohorizons 8 (9), 712-720 (2024)
   PUBMED   39287601
  REMARK    GeneRIF: Human ACE2 Gene Replacement Mice Support SARS-CoV-2 Viral
            Replication and Nonlethal Disease Progression.
REFERENCE   3  (bases 1 to 3339)
  AUTHORS   Wang,R., Wang,R., Zhou,S., Liu,T., Dang,J., Chen,Q., Chen,J. and
            Wang,Z.
  TITLE     Ubiquitination of angiotensin-converting enzyme 2 contributes to
            the development of pulmonary arterial hypertension mediated by
            neural precursor cell-expressed developmentally down-regulated gene
            4-Like
  JOURNAL   Respir Res 25 (1), 326 (2024)
   PUBMED   39210401
  REMARK    GeneRIF: Ubiquitination of angiotensin-converting enzyme 2
            contributes to the development of pulmonary arterial hypertension
            mediated by neural precursor cell-expressed developmentally
            down-regulated gene 4-Like.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3339)
  AUTHORS   Yunita,R., Wahyuni,A.S., Sinaga,B.Y., Yamamoto,Z., Soebandrio,A.,
            Kusumawati,R.L., Sembiring,R.J. and Pandia,P.
  TITLE     Role of ACE2 and TMPRSS2 polymorphisms on COVID-19 outcome and
            disease severity in adult patients: A prospective cohort study in a
            tertiary hospital, Indonesia
  JOURNAL   Narra J 4 (2), e919 (2024)
   PUBMED   39280326
  REMARK    GeneRIF: Role of ACE2 and TMPRSS2 polymorphisms on COVID-19 outcome
            and disease severity in adult patients: A prospective cohort study
            in a tertiary hospital, Indonesia.
REFERENCE   5  (bases 1 to 3339)
  AUTHORS   Onabajo,O.O., Banday,A.R., Stanifer,M.L., Yan,W., Obajemu,A.,
            Santer,D.M., Florez-Vargas,O., Piontkivska,H., Vargas,J.M.,
            Ring,T.J., Kee,C., Doldan,P., Tyrrell,D.L., Mendoza,J.L.,
            Boulant,S. and Prokunina-Olsson,L.
  TITLE     Interferons and viruses induce a novel truncated ACE2 isoform and
            not the full-length SARS-CoV-2 receptor
  JOURNAL   Nat Genet 52 (12), 1283-1293 (2020)
   PUBMED   33077916
  REMARK    GeneRIF: Interferons and viruses induce a novel truncated ACE2
            isoform and not the full-length SARS-CoV-2 receptor.
REFERENCE   6  (bases 1 to 3339)
  AUTHORS   Ng,K.W., Attig,J., Bolland,W., Young,G.R., Major,J., Wrobel,A.G.,
            Gamblin,S., Wack,A. and Kassiotis,G.
  TITLE     Tissue-specific and interferon-inducible expression of
            nonfunctional ACE2 through endogenous retroelement co-option
  JOURNAL   Nat Genet 52 (12), 1294-1302 (2020)
   PUBMED   33077915
  REMARK    GeneRIF: Tissue-specific and interferon-inducible expression of
            nonfunctional ACE2 through endogenous retroelement co-option.
REFERENCE   7  (bases 1 to 3339)
  AUTHORS   Vickers,C., Hales,P., Kaushik,V., Dick,L., Gavin,J., Tang,J.,
            Godbout,K., Parsons,T., Baronas,E., Hsieh,F., Acton,S., Patane,M.,
            Nichols,A. and Tummino,P.
  TITLE     Hydrolysis of biological peptides by human angiotensin-converting
            enzyme-related carboxypeptidase
  JOURNAL   J Biol Chem 277 (17), 14838-14843 (2002)
   PUBMED   11815627
  REMARK    GeneRIF: role in hydrolyzing biological peptides
REFERENCE   8  (bases 1 to 3339)
  AUTHORS   Turner,A.J., Tipnis,S.R., Guy,J.L., Rice,G. and Hooper,N.M.
  TITLE     ACEH/ACE2 is a novel mammalian metallocarboxypeptidase and a
            homologue of angiotensin-converting enzyme insensitive to ACE
            inhibitors
  JOURNAL   Can J Physiol Pharmacol 80 (4), 346-353 (2002)
   PUBMED   12025971
  REMARK    Review article
REFERENCE   9  (bases 1 to 3339)
  AUTHORS   Tipnis,S.R., Hooper,N.M., Hyde,R., Karran,E., Christie,G. and
            Turner,A.J.
  TITLE     A human homolog of angiotensin-converting enzyme. Cloning and
            functional expression as a captopril-insensitive carboxypeptidase
  JOURNAL   J Biol Chem 275 (43), 33238-33243 (2000)
   PUBMED   10924499
REFERENCE   10 (bases 1 to 3339)
  AUTHORS   Donoghue,M., Hsieh,F., Baronas,E., Godbout,K., Gosselin,M.,
            Stagliano,N., Donovan,M., Woolf,B., Robison,K., Jeyaseelan,R.,
            Breitbart,R.E. and Acton,S.
  TITLE     A novel angiotensin-converting enzyme-related carboxypeptidase
            (ACE2) converts angiotensin I to angiotensin 1-9
  JOURNAL   Circ Res 87 (5), E1-E9 (2000)
   PUBMED   10969042
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097625.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene belongs to the
            angiotensin-converting enzyme family of dipeptidyl
            carboxydipeptidases and has considerable homology to human
            angiotensin 1 converting enzyme. This secreted protein catalyzes
            the cleavage of angiotensin I into angiotensin 1-9, and angiotensin
            II into the vasodilator angiotensin 1-7. ACE2 is known to be
            expressed in various human organs, and its organ- and cell-specific
            expression suggests that it may play a role in the regulation of
            cardiovascular and renal function, as well as fertility. In
            addition, the encoded protein is a functional receptor for the
            spike glycoprotein of the human coronavirus HCoV-NL63 and the human
            severe acute respiratory syndrome coronaviruses, SARS-CoV and
            SARS-CoV-2, the latter is the causative agent of coronavirus
            disease-2019 (COVID-19). Multiple splice variants have been found
            for this gene and the dACE2 (or MIRb-ACE2) splice variant has been
            found to be interferon inducible. [provided by RefSeq, Nov 2020].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1 and 2 encode the same isoform.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AB193260.1, AF241254.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in SARS-CoV-2 infection
            MANE Ensembl match     :: ENST00000252519.8/ ENSP00000252519.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-235               AC097625.11        180112-180346       c
            236-394             AC097625.11        174231-174389       c
            395-488             AC097625.11        171615-171708       c
            489-632             AC097625.11        171099-171242       c
            633-745             AC097625.11        168730-168842       c
            746-851             AC097625.11        167139-167244       c
            852-949             AC097625.11        164861-164958       c
            950-1119            AC097625.11        160607-160776       c
            1120-1346           AC097625.11        157475-157701       c
            1347-1491           AC097625.11        155052-155196       c
            1492-1590           AC097625.11        152753-152851       c
            1591-1713           AC097625.11        151587-151709       c
            1714-1886           AC097625.11        151010-151182       c
            1887-1945           AC097625.11        149681-149739       c
            1946-2046           AC097625.11        147112-147212       c
            2047-2163           AC097625.11        145639-145755       c
            2164-2358           AC097625.11        143410-143604       c
            2359-3339           AC097625.11        140419-141399       c
FEATURES             Location/Qualifiers
     source          1..3339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3339
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /note="angiotensin converting enzyme 2"
                     /db_xref="GeneID:59272"
                     /db_xref="HGNC:HGNC:13557"
                     /db_xref="MIM:300335"
     exon            1..235
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            236..394
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            395..488
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            489..632
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            633..745
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            746..851
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            852..949
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1119
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1346
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1491
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1590
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1713
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1886
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1887..1945
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..2046
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2163
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            2164..2358
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..3339
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3316..3321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /note="hexamer: AATAAA"
     polyA_site      3339
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /note="major polyA site"
ORIGIN      
        1 agtctaggga aagtcattca gtggatgtga tcttggctca caggggacga tgtcaagctc
       61 ttcctggctc cttctcagcc ttgttgctgt aactgctgct cagtccacca ttgaggaaca
      121 ggccaagaca tttttggaca agtttaacca cgaagccgaa gacctgttct atcaaagttc
      181 acttgcttct tggaattata acaccaatat tactgaagag aatgtccaaa acatgaataa
      241 tgctggggac aaatggtctg cctttttaaa ggaacagtcc acacttgccc aaatgtatcc
      301 actacaagaa attcagaatc tcacagtcaa gcttcagctg caggctcttc agcaaaatgg
      361 gtcttcagtg ctctcagaag acaagagcaa acggttgaac acaattctaa atacaatgag
      421 caccatctac agtactggaa aagtttgtaa cccagataat ccacaagaat gcttattact
      481 tgaaccaggt ttgaatgaaa taatggcaaa cagtttagac tacaatgaga ggctctgggc
      541 ttgggaaagc tggagatctg aggtcggcaa gcagctgagg ccattatatg aagagtatgt
      601 ggtcttgaaa aatgagatgg caagagcaaa tcattatgag gactatgggg attattggag
      661 aggagactat gaagtaaatg gggtagatgg ctatgactac agccgcggcc agttgattga
      721 agatgtggaa catacctttg aagagattaa accattatat gaacatcttc atgcctatgt
      781 gagggcaaag ttgatgaatg cctatccttc ctatatcagt ccaattggat gcctccctgc
      841 tcatttgctt ggtgatatgt ggggtagatt ttggacaaat ctgtactctt tgacagttcc
      901 ctttggacag aaaccaaaca tagatgttac tgatgcaatg gtggaccagg cctgggatgc
      961 acagagaata ttcaaggagg ccgagaagtt ctttgtatct gttggtcttc ctaatatgac
     1021 tcaaggattc tgggaaaatt ccatgctaac ggacccagga aatgttcaga aagcagtctg
     1081 ccatcccaca gcttgggacc tggggaaggg cgacttcagg atccttatgt gcacaaaggt
     1141 gacaatggac gacttcctga cagctcatca tgagatgggg catatccagt atgatatggc
     1201 atatgctgca caaccttttc tgctaagaaa tggagctaat gaaggattcc atgaagctgt
     1261 tggggaaatc atgtcacttt ctgcagccac acctaagcat ttaaaatcca ttggtcttct
     1321 gtcacccgat tttcaagaag acaatgaaac agaaataaac ttcctgctca aacaagcact
     1381 cacgattgtt gggactctgc catttactta catgttagag aagtggaggt ggatggtctt
     1441 taaaggggaa attcccaaag accagtggat gaaaaagtgg tgggagatga agcgagagat
     1501 agttggggtg gtggaacctg tgccccatga tgaaacatac tgtgaccccg catctctgtt
     1561 ccatgtttct aatgattact cattcattcg atattacaca aggacccttt accaattcca
     1621 gtttcaagaa gcactttgtc aagcagctaa acatgaaggc cctctgcaca aatgtgacat
     1681 ctcaaactct acagaagctg gacagaaact gttcaatatg ctgaggcttg gaaaatcaga
     1741 accctggacc ctagcattgg aaaatgttgt aggagcaaag aacatgaatg taaggccact
     1801 gctcaactac tttgagccct tatttacctg gctgaaagac cagaacaaga attcttttgt
     1861 gggatggagt accgactgga gtccatatgc agaccaaagc atcaaagtga ggataagcct
     1921 aaaatcagct cttggagata aagcatatga atggaacgac aatgaaatgt acctgttccg
     1981 atcatctgtt gcatatgcta tgaggcagta ctttttaaaa gtaaaaaatc agatgattct
     2041 ttttggggag gaggatgtgc gagtggctaa tttgaaacca agaatctcct ttaatttctt
     2101 tgtcactgca cctaaaaatg tgtctgatat cattcctaga actgaagttg aaaaggccat
     2161 caggatgtcc cggagccgta tcaatgatgc tttccgtctg aatgacaaca gcctagagtt
     2221 tctggggata cagccaacac ttggacctcc taaccagccc cctgtttcca tatggctgat
     2281 tgtttttgga gttgtgatgg gagtgatagt ggttggcatt gtcatcctga tcttcactgg
     2341 gatcagagat cggaagaaga aaaataaagc aagaagtgga gaaaatcctt atgcctccat
     2401 cgatattagc aaaggagaaa ataatccagg attccaaaac actgatgatg ttcagacctc
     2461 cttttagaaa aatctatgtt tttcctcttg aggtgatttt gttgtatgta aatgttaatt
     2521 tcatggtata gaaaatataa gatgataaag atatcattaa atgtcaaaac tatgactctg
     2581 ttcagaaaaa aaattgtcca aagacaacat ggccaaggag agagcatctt cattgacatt
     2641 gctttcagta tttatttctg tctctggatt tgacttctgt tctgtttctt aataaggatt
     2701 ttgtattaga gtatattagg gaaagtgtgt atttggtctc acaggctgtt cagggataat
     2761 ctaaatgtaa atgtctgttg aatttctgaa gttgaaaaca aggatatatc attggagcaa
     2821 gtgttggatc ttgtatggaa tatggatgga tcacttgtaa ggacagtgcc tgggaactgg
     2881 tgtagctgca aggattgaga atggcatgca ttagctcact ttcatttaat ccattgtcaa
     2941 ggatgacatg ctttcttcac agtaactcag ttcaagtact atggtgattt gcctacagtg
     3001 atgtttggaa tcgatcatgc tttcttcaag gtgacaggtc taaagagaga agaatccagg
     3061 gaacaggtag aggacattgc tttttcactt ccaaggtgct tgatcaacat ctccctgaca
     3121 acacaaaact agagccaggg gcctccgtga actcccagag catgcctgat agaaactcat
     3181 ttctactgtt ctctaactgt ggagtgaatg gaaattccaa ctgtatgttc accctctgaa
     3241 gtgggtaccc agtctcttaa atcttttgta tttgctcaca gtgtttgagc agtgctgagc
     3301 acaaagcaga cactcaataa atgctagatt tacacactc
//
