LOCUS       NM_022720               4506 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens DGCR8 microprocessor complex subunit (DGCR8),
            transcript variant 1, mRNA.
ACCESSION   NM_022720 NM_022775
VERSION     NM_022720.7
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 4506)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4506)
  AUTHORS   Condello,V., Poma,A.M., Macerola,E., Vignali,P., Paulsson,J.O.,
            Zedenius,J., Basolo,F. and Juhlin,C.C.
  TITLE     Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and
            DGCR8 Mutated Follicular-Patterned Thyroid Nodules
  JOURNAL   J Clin Endocrinol Metab 109 (7), 1733-1744 (2024)
   PUBMED   38252873
  REMARK    GeneRIF: Prevalence, Molecular Landscape, and Clinical Impact of
            DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.
REFERENCE   3  (bases 1 to 4506)
  AUTHORS   Li,Y., Carey,T.S., Feng,C.H., Zhu,H.M., Sun,X.X. and Dai,M.S.
  TITLE     The Ubiquitin-specific Protease USP36 Associates with the
            Microprocessor Complex and Regulates miRNA Biogenesis by
            SUMOylating DGCR8
  JOURNAL   Cancer Res Commun 3 (3), 459-470 (2023)
   PUBMED   36950067
  REMARK    GeneRIF: The Ubiquitin-specific Protease USP36 Associates with the
            Microprocessor Complex and Regulates miRNA Biogenesis by
            SUMOylating DGCR8.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4506)
  AUTHORS   Li,X., Fang,J., Tao,X., Xia,J., Cheng,B. and Wang,Y.
  TITLE     Splice site m6A methylation prevents binding of DGCR8 to suppress
            KRT4 pre-mRNA splicing in oral squamous cell carcinoma
  JOURNAL   PeerJ 11, e14824 (2023)
   PUBMED   36811004
  REMARK    GeneRIF: Splice site m[6]A methylation prevents binding of DGCR8 to
            suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4506)
  AUTHORS   Ree,D., Fothi,A., Varga,N., Kolacsek,O., Orban,T.I. and Apati,A.
  TITLE     Partial Disturbance of Microprocessor Function in Human Stem Cells
            Carrying a Heterozygous Mutation in the DGCR8 Gene
  JOURNAL   Genes (Basel) 13 (11), 1925 (2022)
   PUBMED   36360162
  REMARK    GeneRIF: Partial Disturbance of Microprocessor Function in Human
            Stem Cells Carrying a Heterozygous Mutation in the DGCR8 Gene.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4506)
  AUTHORS   Han,J., Lee,Y., Yeom,K.H., Nam,J.W., Heo,I., Rhee,J.K., Sohn,S.Y.,
            Cho,Y., Zhang,B.T. and Kim,V.N.
  TITLE     Molecular basis for the recognition of primary microRNAs by the
            Drosha-DGCR8 complex
  JOURNAL   Cell 125 (5), 887-901 (2006)
   PUBMED   16751099
  REMARK    GeneRIF: Thus, DGCR8 may function as the molecular anchor that
            measures the distance from the dsRNA-ssRNA junction
REFERENCE   7  (bases 1 to 4506)
  AUTHORS   Han,J., Lee,Y., Yeom,K.H., Kim,Y.K., Jin,H. and Kim,V.N.
  TITLE     The Drosha-DGCR8 complex in primary microRNA processing
  JOURNAL   Genes Dev 18 (24), 3016-3027 (2004)
   PUBMED   15574589
  REMARK    GeneRIF: DGCR8 may be an essential component of the primary miRNA
            processing complex, along with Drosha.
REFERENCE   8  (bases 1 to 4506)
  AUTHORS   Landthaler,M., Yalcin,A. and Tuschl,T.
  TITLE     The human DiGeorge syndrome critical region gene 8 and Its D.
            melanogaster homolog are required for miRNA biogenesis
  JOURNAL   Curr Biol 14 (23), 2162-2167 (2004)
   PUBMED   15589161
  REMARK    GeneRIF: DGCR8 is required for the maturation of miRNA primary
            transcripts.
REFERENCE   9  (bases 1 to 4506)
  AUTHORS   Gregory,R.I., Yan,K.P., Amuthan,G., Chendrimada,T., Doratotaj,B.,
            Cooch,N. and Shiekhattar,R.
  TITLE     The Microprocessor complex mediates the genesis of microRNAs
  JOURNAL   Nature 432 (7014), 235-240 (2004)
   PUBMED   15531877
REFERENCE   10 (bases 1 to 4506)
  AUTHORS   Shiohama,A., Sasaki,T., Noda,S., Minoshima,S. and Shimizu,N.
  TITLE     Molecular cloning and expression analysis of a novel gene DGCR8
            located in the DiGeorge syndrome chromosomal region
  JOURNAL   Biochem Biophys Res Commun 304 (1), 184-190 (2003)
   PUBMED   12705904
  REMARK    GeneRIF: Molecular cloning and expression analysis of DGCR8
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA433651.1, BC037564.1,
            AC006547.9 and BQ001948.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022720.6.
            
            Summary: This gene encodes a subunit of the microprocessor complex
            which mediates the biogenesis of microRNAs from the primary
            microRNA transcript. The encoded protein is a double-stranded RNA
            binding protein that functions as the non-catalytic subunit of the
            microprocessor complex. This protein is required for binding the
            double-stranded RNA substrate and facilitates cleavage of the RNA
            by the ribonuclease III protein, Drosha. Alternate splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC037564.1, SRR1163655.370161.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351989.8/ ENSP00000263209.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                DA433651.1         10-62
            54-4012             BC037564.1         13-3971
            4013-4363           AC006547.9         72410-72760
            4364-4506           BQ001948.1         22-164              c
FEATURES             Location/Qualifiers
     source          1..4506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..4506
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /note="DGCR8 microprocessor complex subunit"
                     /db_xref="GeneID:54487"
                     /db_xref="HGNC:HGNC:2847"
                     /db_xref="MIM:609030"
     exon            1..143
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            144..1140
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     CDS             421..2742
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /note="isoform 1 is encoded by transcript variant 1;
                     microprocessor complex subunit DGCR8; DiGeorge syndrome
                     critical region 8; DiGeorge syndrome critical region gene
                     8"
                     /codon_start=1
                     /product="microprocessor complex subunit DGCR8 isoform 1"
                     /protein_id="NP_073557.3"
                     /db_xref="CCDS:CCDS13773.1"
                     /db_xref="GeneID:54487"
                     /db_xref="HGNC:HGNC:2847"
                     /db_xref="MIM:609030"
                     /translation="METDESPSPLPCGPAGEAVMESRARPFQALPREQSPPPPLQTSS
                     GAEVMDVGSGGDGQSELPAEDPFNFYGASLLSKGSFSKGRLLIDPNCSGHSPRTARHA
                     PAVRKFSPDLKLLKDVKISVSFTESCRSKDRKVLYTGAERDVRAECGLLLSPVSGDVH
                     ACPFGGSVGDGVGIGGESADKKDEENELDQEKRVEYAVLDELEDFTDNLELDEEGAGG
                     FTAKAIVQRDRVDEEALNFPYEDDFDNDVDALLEEGLCAPKKRRTEEKYGGDSDHPSD
                     GETSVQPMMTKIKTVLKSRGRPPTEPLPDGWIMTFHNSGVPVYLHRESRVVTWSRPYF
                     LGTGSIRKHDPPLSSIPCLHYKKMKDNEEREQSSDLTPSGDVSPVKPLSRSAELEFPL
                     DEPDSMGADPGPPDEKDPLGAEAAPGALGQVKAKVEVCKDESVDLEEFRSYLEKRFDF
                     EQVTVKKFRTWAERRQFNREMKRKQAESERPILPANQKLITLSVQDAPTKKEFVINPN
                     GKSEVCILHEYMQRVLKVRPVYNFFECENPSEPFGASVTIDGVTYGSGTASSKKLAKN
                     KAARATLEILIPDFVKQTSEEKPKDSEELEYFNHISIEDSRVYELTSKAGLLSPYQIL
                     HECLKRNHGMGDTSIKFEVVPGKNQKSEYVMACGKHTVRGWCKNKRVGKQLASQKILQ
                     LLHPHVKNWGSLLRMYGRESSKMVKQETSDKSVIELQQYAKKNKPNLHILSKLQEEMK
                     RLAEEREETRKKPKMSIVASAQPGGEPLCTVDV"
     exon            1141..1300
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1443
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1726
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            1727..1924
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2026
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2027..2125
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2208
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2209..2309
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2310..2416
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2544
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2545..2658
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     exon            2659..4506
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4486..4491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /note="hexamer: CATAAA"
     polyA_site      4506
                     /gene="DGCR8"
                     /gene_synonym="C22orf12; DGCRK6; Gy1; pasha"
                     /note="major polyA site"
ORIGIN      
        1 ctccgctcgc ccggcgcggc aggcgggtgc cggcgaccgg agagcctgga caggctttcc
       61 agatggctgc ggcggtcggt cggtgaggct ttcccggctg tggtttggct gcgggcggct
      121 tgggcagccc gcgggcgcct caggtagaag aagaaaggtg ccactccggc atgaagacag
      181 actcgcttag tcgccagtca cttaagctga gtgcattgtg atttccaata attgaggcag
      241 tggttctaaa agctgtctac attaatgaaa agagcaatgt ggccagcttg actaagccgc
      301 cagcgcacag cgcggcagga cgcgcccggg tctcagcgga cttgtgcatg ttagctgtgt
      361 agatttatgt gagggcttgt aaaactctgg tcttgtaaac tagtcttaag cgcttttaat
      421 atggagacag atgagagccc ctctccgctc ccgtgtgggc ccgcaggaga agcggtgatg
      481 gagagccgag ctcgcccctt ccaagcgctg ccccgtgagc agtctccacc acctcccctg
      541 caaacgtcca gtggtgcaga ggtaatggac gttggctctg gtggtgatgg acagtccgaa
      601 ctccctgctg aggacccctt caacttctac ggagcttctc ttctctccaa aggatccttc
      661 tctaagggcc gcctcctcat agacccgaac tgtagtggcc acagcccgcg caccgcccgg
      721 cacgcacctg cggtccggaa gttctcccct gaccttaagt tgcttaagga tgtaaagatt
      781 agcgtgagct ttaccgagag ctgcaggagt aaggacagga aggtgctgta cacaggagca
      841 gagcgcgacg tgcgggcgga gtgcggtctg ctccttagcc ctgtcagtgg ggacgtgcat
      901 gcttgtccct ttggcgggag tgttggtgac ggggtaggca tagggggtga gagtgctgat
      961 aagaaggatg aggagaatga gctggatcag gaaaagagag tggagtatgc agtgctcgat
     1021 gagttagaag attttactga caatttggag ctagatgaag aaggagcagg cgggttcacg
     1081 gctaaagcaa tcgttcagag agacagagtg gatgaagagg ccttgaattt cccctacgag
     1141 gatgactttg acaacgatgt ggatgctctg ctggaagaag gcctttgtgc ccccaaaaag
     1201 aggcgaacag aggaaaaata tggcggagac agcgaccatc cgtccgatgg agagacaagt
     1261 gtgcagccga tgatgaccaa gattaaaaca gtgctcaaaa gtcgtggccg cccacctaca
     1321 gagccgctgc ccgacgggtg gatcatgaca ttccataact ctggagtccc ggtgtaccta
     1381 cacagagagt ctcgggtggt cacctggtcc aggccatact tcttgggaac gggaagcata
     1441 cggaaacacg accctcctct gagtagcatc ccttgtctgc attataagaa aatgaaggac
     1501 aacgaggaac gggagcaaag cagtgacctc acccctagtg gggatgtgtc ccccgtcaag
     1561 cccctgagcc gatctgcaga gctggagttt cccctggatg agcctgactc tatgggtgct
     1621 gacccggggc ccccggacga gaaagaccca ctaggggctg aggcagcccc tggggccctg
     1681 gggcaggtga aggccaaagt cgaggtgtgc aaagatgaat ccgttgatct cgaggaattt
     1741 cgaagctacc tggagaagcg ttttgacttt gagcaagtta ctgtgaaaaa attcaggact
     1801 tgggctgagc ggcggcaatt caatcgggaa atgaagcgga agcaggcgga gtccgagagg
     1861 cccatcttgc cagccaatca gaagctcatt actttatcag tgcaagatgc acccacaaag
     1921 aaagagtttg ttattaaccc caacgggaaa tccgaggtct gcatcctgca cgagtacatg
     1981 cagcgtgtcc tcaaggtccg ccctgtctat aatttctttg aatgtgagaa cccaagtgag
     2041 ccttttggtg cctcggtgac cattgatggt gtgacttacg gatctggaac tgcaagcagc
     2101 aaaaaacttg cgaagaataa agctgcccga gctacactgg aaatcctcat ccctgacttt
     2161 gttaaacaga cctctgaaga gaagcccaaa gacagtgaag aactcgagta ttttaaccac
     2221 atcagcatcg aggactcgcg ggtctacgag ctgaccagca aggctgggct gttgtctcca
     2281 tatcagatcc tccacgagtg ccttaaaaga aaccatggga tgggtgacac gtctatcaag
     2341 tttgaagtgg ttcctgggaa aaaccagaag agtgaatacg tcatggcgtg tggcaagcac
     2401 acagtgcgcg ggtggtgtaa gaacaagaga gttggaaagc agttagcctc acagaagatc
     2461 cttcagctgc tgcacccaca tgtcaagaac tgggggtctt tactgcgcat gtatggccgt
     2521 gagagcagca agatggtcaa gcaggagaca tcggacaaga gtgtgattga gctgcagcag
     2581 tatgccaaga agaacaagcc caacctgcac atcctcagca agctccaaga ggagatgaag
     2641 aggctagctg aggaaaggga ggagactcga aagaagccca agatgtccat tgtggcgtcc
     2701 gcccagcctg gcggtgagcc cctgtgcacc gtggacgtgt gagggaggtg gcacgggcca
     2761 gggcgcgggg gccgccagcc gcacttctga ggagaccagc agtcatgcat cgtgcaccac
     2821 agtgtcaggc ctccaaccca cgctccttcc ctgtggccaa cctgtgggcc cggccttagg
     2881 gtggaggctt tagtgtacag ggacagccat ggccacacag cacacatgtg gagcagcggc
     2941 tctccctgga aagctccagg cctgaatgga tggactcagc gactgcacca gtggcagctg
     3001 gtgactgtgg acagtggtgg accctgcttc tgtgcacctg ctgcaggctc tttttatgaa
     3061 ggctttcatg aattttagta tgtaatacgc actgacgaca catgatgctt ggatgacaga
     3121 tgagagggga tggctgagtc ctgtggctgg cccgtgatgc caggtggccc atgtgcccag
     3181 ggcgcctgca gggctgctac agggacctgg tcaggaggtg cacatggtgc cctgccctca
     3241 cccaccctct gtgtttcccc ttctttgaaa aggtagaaga gaaaggaata ttttaaacct
     3301 ttttggctta aacagaattt tagcatcaga actagctttc tgggattgga ggcaaaccat
     3361 caaggtggtc cctctccagt ctggacacga tgccagcaag gatgacgtcc tgccacctcc
     3421 tggagttacc ctggcctcct agggtccctt tttctgatga agtcttaatt ccctaaaagc
     3481 gcctctttgg acactgaggc cctctctgcc tttcctggcc tccggcaaca gttttttaca
     3541 aagatttttt gcagtcgagt ccatatgtcc acccattgat ttttaaagct tttgtgatat
     3601 tttagcattt tgaaagactt tcacagtgag agtagaaggt agatttggaa tcatgcattt
     3661 tagcaagtgg acttgttgaa acaggaagca agggccttca gtgtagccca ttcttgatcc
     3721 agagctgttg cctgtgacag cggtttctct ggatgtcaaa ggcagctgcc tggtgcccag
     3781 cttgcttctc gactggtggc ccctatgggt gggtgtgcga tggaaatgtg ttcctgccgg
     3841 agtctgaggc accagggtgt gctcaaaggc tggccctggt ggtggactgg cacctgtgca
     3901 gagtgccgtg tgcttgtggt gcgccatctg aagcaagagt ccagcgttct gccgtgtctg
     3961 tcccccacca tgccccctac aggcggtact gatggcgctt tttttttttt ttctgtcagg
     4021 aaaacaatgt tggcctgtgg gccgcccaca acatatcctt ccctcactac ctgtgtgacc
     4081 aaggttggct tctgttgacc tttaaaaaag aaaccctcaa ctcaaattgc tataattaga
     4141 cacttgcttc tgtcttgcct cctgtctgca gctgtgaata gtcatttgac tgtgactgtt
     4201 gcccttagcc agccagatgc gcctgtgaac caaagcttcg tgcacatgtg ttcccctaaa
     4261 ggttggggag cctcgctgtg tcttgctgtt cccaggcacc accacagcag gtgctgccat
     4321 actcttgtgg tctctgtgcg cccccccccc ccccccaccc gtctgccaag catgggtatg
     4381 aatcgtgcac acagccatgc ttcaaggccg gggcagggga gcctgtgctg atgccatcca
     4441 gggcactggg ctgtgcctgg aaggcgagcc ttgattgtct gaacacataa agcaaactgt
     4501 ccagaa
//
