LOCUS       NM_001389402            3135 bp    mRNA    linear   PRI 17-NOV-2024
DEFINITION  Homo sapiens angiotensin converting enzyme 2 (ACE2), transcript
            variant 6, mRNA.
ACCESSION   NM_001389402
VERSION     NM_001389402.1
KEYWORDS    RefSeq.
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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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 3135)
  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.
            
            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].
            
            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##
            CDS exon combination :: SRR18074969.3774709.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in SARS-CoV-2 infection
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                AC097625.11        186523-186597       c
            76-364              AC097625.11        180112-180400       c
            365-523             AC097625.11        174231-174389       c
            524-617             AC097625.11        171615-171708       c
            618-761             AC097625.11        171099-171242       c
            762-874             AC097625.11        168730-168842       c
            875-980             AC097625.11        167139-167244       c
            981-1078            AC097625.11        164861-164958       c
            1079-1248           AC097625.11        160607-160776       c
            1249-1475           AC097625.11        157475-157701       c
            1476-1620           AC097625.11        155052-155196       c
            1621-1719           AC097625.11        152753-152851       c
            1720-1842           AC097625.11        151587-151709       c
            1843-1959           AC097625.11        145639-145755       c
            1960-2154           AC097625.11        143410-143604       c
            2155-3135           AC097625.11        140419-141399       c
FEATURES             Location/Qualifiers
     source          1..3135
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3135
                     /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..75
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            76..364
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..2263
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /EC_number="3.4.17.23"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 6; ACE-related carboxypeptidase; metalloprotease
                     MPROT15; angiotensin-converting enzyme homolog;
                     angiotensin I converting enzyme (peptidyl-dipeptidase A)
                     2; angiotensin-converting enzyme-related carboxypeptidase;
                     angiotensin I converting enzyme 2"
                     /codon_start=1
                     /product="angiotensin-converting enzyme 2 isoform 3
                     precursor"
                     /protein_id="NP_001376331.1"
                     /db_xref="GeneID:59272"
                     /db_xref="HGNC:HGNC:13557"
                     /db_xref="MIM:300335"
                     /translation="MSSSSWLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSS
                     LASWNYNTNITEENVQNMNNAGDKWSAFLKEQSTLAQMYPLQEIQNLTVKLQLQALQQ
                     NGSSVLSEDKSKRLNTILNTMSTIYSTGKVCNPDNPQECLLLEPGLNEIMANSLDYNE
                     RLWAWESWRSEVGKQLRPLYEEYVVLKNEMARANHYEDYGDYWRGDYEVNGVDGYDYS
                     RGQLIEDVEHTFEEIKPLYEHLHAYVRAKLMNAYPSYISPIGCLPAHLLGDMWGRFWT
                     NLYSLTVPFGQKPNIDVTDAMVDQAWDAQRIFKEAEKFFVSVGLPNMTQGFWENSMLT
                     DPGNVQKAVCHPTAWDLGKGDFRILMCTKVTMDDFLTAHHEMGHIQYDMAYAAQPFLL
                     RNGANEGFHEAVGEIMSLSAATPKHLKSIGLLSPDFQEDNETEINFLLKQALTIVGTL
                     PFTYMLEKWRWMVFKGEIPKDQWMKKWWEMKREIVGVVEPVPHDETYCDPASLFHVSN
                     DYSFIRYYTRTLYQFQFQEALCQAAKHEGPLHKCDISNSTEAGQKLLEEDVRVANLKP
                     RISFNFFVTAPKNVSDIIPRTEVEKAIRMSRSRINDAFRLNDNSLEFLGIQPTLGPPN
                     QPPVSIWLIVFGVVMGVIVVGIVILIFTGIRDRKKKNKARSGENPYASIDISKGENNP
                     GFQNTDDVQTSF"
     exon            365..523
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            524..617
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            618..761
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            762..874
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            875..980
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1078
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1248
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1475
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1620
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1719
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1842
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..1959
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1960..2154
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     exon            2155..3135
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3112..3117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /note="hexamer: AATAAA"
     polyA_site      3135
                     /gene="ACE2"
                     /gene_synonym="ACEH"
                     /note="major polyA site"
ORIGIN      
        1 ttagaacttt ttaaaagagg caaaggcaga ggagaacaaa ggaaggagga agtaacttgt
       61 ggaatgttga gaaagcgccc aacccaagtt caaaggctga taagagagaa aatctcatga
      121 ggaggtttta gtctagggaa agtcattcag tggatgtgat cttggctcac aggggacgat
      181 gtcaagctct tcctggctcc ttctcagcct tgttgctgta actgctgctc agtccaccat
      241 tgaggaacag gccaagacat ttttggacaa gtttaaccac gaagccgaag acctgttcta
      301 tcaaagttca cttgcttctt ggaattataa caccaatatt actgaagaga atgtccaaaa
      361 catgaataat gctggggaca aatggtctgc ctttttaaag gaacagtcca cacttgccca
      421 aatgtatcca ctacaagaaa ttcagaatct cacagtcaag cttcagctgc aggctcttca
      481 gcaaaatggg tcttcagtgc tctcagaaga caagagcaaa cggttgaaca caattctaaa
      541 tacaatgagc accatctaca gtactggaaa agtttgtaac ccagataatc cacaagaatg
      601 cttattactt gaaccaggtt tgaatgaaat aatggcaaac agtttagact acaatgagag
      661 gctctgggct tgggaaagct ggagatctga ggtcggcaag cagctgaggc cattatatga
      721 agagtatgtg gtcttgaaaa atgagatggc aagagcaaat cattatgagg actatgggga
      781 ttattggaga ggagactatg aagtaaatgg ggtagatggc tatgactaca gccgcggcca
      841 gttgattgaa gatgtggaac atacctttga agagattaaa ccattatatg aacatcttca
      901 tgcctatgtg agggcaaagt tgatgaatgc ctatccttcc tatatcagtc caattggatg
      961 cctccctgct catttgcttg gtgatatgtg gggtagattt tggacaaatc tgtactcttt
     1021 gacagttccc tttggacaga aaccaaacat agatgttact gatgcaatgg tggaccaggc
     1081 ctgggatgca cagagaatat tcaaggaggc cgagaagttc tttgtatctg ttggtcttcc
     1141 taatatgact caaggattct gggaaaattc catgctaacg gacccaggaa atgttcagaa
     1201 agcagtctgc catcccacag cttgggacct ggggaagggc gacttcagga tccttatgtg
     1261 cacaaaggtg acaatggacg acttcctgac agctcatcat gagatggggc atatccagta
     1321 tgatatggca tatgctgcac aaccttttct gctaagaaat ggagctaatg aaggattcca
     1381 tgaagctgtt ggggaaatca tgtcactttc tgcagccaca cctaagcatt taaaatccat
     1441 tggtcttctg tcacccgatt ttcaagaaga caatgaaaca gaaataaact tcctgctcaa
     1501 acaagcactc acgattgttg ggactctgcc atttacttac atgttagaga agtggaggtg
     1561 gatggtcttt aaaggggaaa ttcccaaaga ccagtggatg aaaaagtggt gggagatgaa
     1621 gcgagagata gttggggtgg tggaacctgt gccccatgat gaaacatact gtgaccccgc
     1681 atctctgttc catgtttcta atgattactc attcattcga tattacacaa ggacccttta
     1741 ccaattccag tttcaagaag cactttgtca agcagctaaa catgaaggcc ctctgcacaa
     1801 atgtgacatc tcaaactcta cagaagctgg acagaaactg ttggaggagg atgtgcgagt
     1861 ggctaatttg aaaccaagaa tctcctttaa tttctttgtc actgcaccta aaaatgtgtc
     1921 tgatatcatt cctagaactg aagttgaaaa ggccatcagg atgtcccgga gccgtatcaa
     1981 tgatgctttc cgtctgaatg acaacagcct agagtttctg gggatacagc caacacttgg
     2041 acctcctaac cagccccctg tttccatatg gctgattgtt tttggagttg tgatgggagt
     2101 gatagtggtt ggcattgtca tcctgatctt cactgggatc agagatcgga agaagaaaaa
     2161 taaagcaaga agtggagaaa atccttatgc ctccatcgat attagcaaag gagaaaataa
     2221 tccaggattc caaaacactg atgatgttca gacctccttt tagaaaaatc tatgtttttc
     2281 ctcttgaggt gattttgttg tatgtaaatg ttaatttcat ggtatagaaa atataagatg
     2341 ataaagatat cattaaatgt caaaactatg actctgttca gaaaaaaaat tgtccaaaga
     2401 caacatggcc aaggagagag catcttcatt gacattgctt tcagtattta tttctgtctc
     2461 tggatttgac ttctgttctg tttcttaata aggattttgt attagagtat attagggaaa
     2521 gtgtgtattt ggtctcacag gctgttcagg gataatctaa atgtaaatgt ctgttgaatt
     2581 tctgaagttg aaaacaagga tatatcattg gagcaagtgt tggatcttgt atggaatatg
     2641 gatggatcac ttgtaaggac agtgcctggg aactggtgta gctgcaagga ttgagaatgg
     2701 catgcattag ctcactttca tttaatccat tgtcaaggat gacatgcttt cttcacagta
     2761 actcagttca agtactatgg tgatttgcct acagtgatgt ttggaatcga tcatgctttc
     2821 ttcaaggtga caggtctaaa gagagaagaa tccagggaac aggtagagga cattgctttt
     2881 tcacttccaa ggtgcttgat caacatctcc ctgacaacac aaaactagag ccaggggcct
     2941 ccgtgaactc ccagagcatg cctgatagaa actcatttct actgttctct aactgtggag
     3001 tgaatggaaa ttccaactgt atgttcaccc tctgaagtgg gtacccagtc tcttaaatct
     3061 tttgtatttg ctcacagtgt ttgagcagtg ctgagcacaa agcagacact caataaatgc
     3121 tagatttaca cactc
//
