LOCUS       NM_018150               3042 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ring finger protein 220 (RNF220), transcript variant
            1, mRNA.
ACCESSION   NM_018150
VERSION     NM_018150.4
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 3042)
  AUTHORS   Li,Y., Wang,H., Sun,B., Su,G., Cang,Y., Zhao,L., Zhao,S., Li,Y.,
            Mao,B. and Ma,P.
  TITLE     Smurf1 and Smurf2 mediated polyubiquitination and degradation of
            RNF220 suppresses Shh-group medulloblastoma
  JOURNAL   Cell Death Dis 14 (8), 494 (2023)
   PUBMED   37537194
  REMARK    GeneRIF: Smurf1 and Smurf2 mediated polyubiquitination and
            degradation of RNF220 suppresses Shh-group medulloblastoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3042)
  AUTHORS   Li,Y., Yang,C., Wang,H., Zhao,L., Kong,Q., Cang,Y., Zhao,S., Lv,L.,
            Li,Y., Mao,B. and Ma,P.
  TITLE     Sequential stabilization of RNF220 by RLIM and ZC4H2 during
            cerebellum development and Shh-group medulloblastoma progression
  JOURNAL   J Mol Cell Biol 14 (1) (2022)
   PUBMED   35040952
  REMARK    GeneRIF: Sequential stabilization of RNF220 by RLIM and ZC4H2
            during cerebellum development and Shh-group medulloblastoma
            progression.
            Erratum:[J Mol Cell Biol. 2022 May 25;14(2):mjac030. doi:
            10.1093/jmcb/mjac030.. PMID: 35639540]
REFERENCE   3  (bases 1 to 3042)
  AUTHORS   Yan,J., Tan,M., Yu,L., Jin,X. and Li,Y.
  TITLE     Ring finger 220 promotes the stemness and progression of colon
            cancer cells via Ubiquitin specific peptidase 22-BMI1 axis
  JOURNAL   Bioengineered 12 (2), 12060-12069 (2021)
   PUBMED   34753387
  REMARK    GeneRIF: Ring finger 220 promotes the stemness and progression of
            colon cancer cells via Ubiquitin specific peptidase 22-BMI1 axis.
REFERENCE   4  (bases 1 to 3042)
  AUTHORS   Sferra,A., Fortugno,P., Motta,M., Aiello,C., Petrini,S., Ciolfi,A.,
            Cipressa,F., Moroni,I., Leuzzi,V., Pieroni,L., Marini,F., Boespflug
            Tanguy,O., Eymard-Pierre,E., Danti,F.R., Compagnucci,C.,
            Zambruno,G., Brusco,A., Santorelli,F.M., Chiapparini,L.,
            Francalanci,P., Loizzo,A.L., Tartaglia,M., Cestra,G. and Bertini,E.
  TITLE     Biallelic mutations in RNF220 cause laminopathies featuring
            leukodystrophy, ataxia and deafness
  JOURNAL   Brain 144 (10), 3020-3035 (2021)
   PUBMED   33964137
  REMARK    GeneRIF: Biallelic mutations in RNF220 cause laminopathies
            featuring leukodystrophy, ataxia and deafness.
REFERENCE   5  (bases 1 to 3042)
  AUTHORS   Liu,X., Liu,X., Cai,M., Luo,A., He,Y., Liu,S., Zhang,X., Yang,X.,
            Xu,L. and Jiang,H.
  TITLE     CircRNF220, not its linear cognate gene RNF220, regulates cell
            growth and is associated with relapse in pediatric acute myeloid
            leukemia
  JOURNAL   Mol Cancer 20 (1), 139 (2021)
   PUBMED   34702297
  REMARK    GeneRIF: CircRNF220, not its linear cognate gene RNF220, regulates
            cell growth and is associated with relapse in pediatric acute
            myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3042)
  AUTHORS   Ma,P., Yang,X., Kong,Q., Li,C., Yang,S., Li,Y. and Mao,B.
  TITLE     The ubiquitin ligase RNF220 enhances canonical Wnt signaling
            through USP7-mediated deubiquitination of beta-catenin
  JOURNAL   Mol Cell Biol 34 (23), 4355-4366 (2014)
   PUBMED   25266658
  REMARK    GeneRIF: RNF220 interacts with USP7, a ubiquitin-specific
            peptidase, which is required for RNF220 to stabilize beta-catenin.
REFERENCE   7  (bases 1 to 3042)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3042)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3042)
  AUTHORS   Markson,G., Kiel,C., Hyde,R., Brown,S., Charalabous,P., Bremm,A.,
            Semple,J., Woodsmith,J., Duley,S., Salehi-Ashtiani,K., Vidal,M.,
            Komander,D., Serrano,L., Lehner,P. and Sanderson,C.M.
  TITLE     Analysis of the human E2 ubiquitin conjugating enzyme protein
            interaction network
  JOURNAL   Genome Res 19 (10), 1905-1911 (2009)
   PUBMED   19549727
REFERENCE   10 (bases 1 to 3042)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN285725.1, BC034221.1 and AK025744.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018150.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform (1).
            
            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 :: BC034221.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361799.7/ ENSP00000354872.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-33                CN285725.1         96-128
            34-2395             BC034221.1         1-2362
            2396-3029           AK025744.1         1580-2213
            3030-3042           BC034221.1         2997-3009
FEATURES             Location/Qualifiers
     source          1..3042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..3042
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /note="ring finger protein 220"
                     /db_xref="GeneID:55182"
                     /db_xref="HGNC:HGNC:25552"
                     /db_xref="MIM:616136"
     exon            1..276
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            277..1018
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     CDS             394..2094
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1; E3
                     ubiquitin-protein ligase RNF220; RING-type E3 ubiquitin
                     transferase RNF220"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase RNF220 isoform 1"
                     /protein_id="NP_060620.2"
                     /db_xref="CCDS:CCDS510.1"
                     /db_xref="GeneID:55182"
                     /db_xref="HGNC:HGNC:25552"
                     /db_xref="MIM:616136"
                     /translation="MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQ
                     PRPFGVPVSVDKDVHIPFTNGSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPP
                     NLDCTPISMLNHSGVGAFRPFASTEDRESYQSAFTPAKRLKNCHDTESPHLRFSDADG
                     KEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGLISDREASSSPEDRNDRCKKKAAALFD
                     SQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNSLLKDAMAPGTPKSLLLSASI
                     KREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIGKMKRRKQDEGQREG
                     SCMAEDDAVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDA
                     DLDVDGDDTLEYGKPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPEFS
                     KWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSR
                     GDRYKCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL
                     "
     exon            1019..1151
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1197
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1299
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1342
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1386
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1519
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1616
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1703
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1759
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..1838
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..1947
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2022
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..3042
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3022..3027
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /note="hexamer: ATTAAA"
     polyA_site      3042
                     /gene="RNF220"
                     /gene_synonym="C1orf164; HLD23"
                     /note="major polyA site"
ORIGIN      
        1 attcactgat tagatccagc gctgagaggc agcactgctc cttctctcac gccaactgag
       61 tctcttgatc tgtacatgca atcccaggca gctcgcgaac acaaacccgg ggccagccgc
      121 ctactgctgc tgctgctgct gccgctgccg ccgccgccgc cgccgctgcc tccgccggct
      181 ctgcgaaccc gggacttttc atgcaccaca ctctccgcct gcttccctcc gtgtcctgaa
      241 aagtgcgacc gttctcccaa ggaatttcca cggcaagtct taggagggaa tgattcccca
      301 gtaatattcc ctgccctgac ccaaagtgct ggttggcctc cctcccaggg aagactgctt
      361 cttgcgtaac gccggccaca gaaagagact ccgatggact tacaccgggc agccttcaag
      421 atggagaact catcctacct tcccaaccct ctggcatccc cagcactgat ggtcctggca
      481 tccacggctg aggccagccg tgatgcttcc atcccttgtc agcagccacg accctttggt
      541 gtacctgtct cagttgacaa ggacgtgcat attcctttca ccaacggttc ctataccttt
      601 gcctctatgt accatcggca aggtggggtg ccaggcactt ttgccaatcg tgatttcccc
      661 ccttctctac tacacctcca ccctcaattt gctcccccaa atctagattg caccccaatc
      721 agtatgctga atcatagtgg tgtgggggct ttccggccct ttgcctccac cgaggaccgg
      781 gagagctatc agtcagcctt tacgccggcc aagcgactta agaactgcca tgacacagag
      841 tctccccact tgcgcttctc agatgcagat ggcaaggaat atgactttgg gacacagctg
      901 ccatctagct cccccggttc actaaaggtt gatgacactg ggaagaagat ttttgctgtc
      961 tctggcctca tttctgatcg ggaagcctca tctagcccag aggatcggaa tgacagatgt
     1021 aagaagaaag cagcggcatt gttcgacagc caggccccaa tttgccccat ctgccaggtc
     1081 ctgctgaggc ccagtgagct gcaggagcat atggagcagg aactggagca gctagcccaa
     1141 ctgccctcga gcaagaattc ccttctgaag gatgccatgg ctccaggcac cccaaagtcc
     1201 ctcctgttgt ctgcttccat caagagggaa ggagagtctc caacggcatc accccactca
     1261 tctgccaccg atgacctcca ccattcagac agataccaga cctttctgcg agtacgagcc
     1321 aaccggcaga cccgactgaa tgctcggatt gggaaaatga aacggaggaa gcaagatgaa
     1381 gggcagaggg aaggctcctg catggctgag gatgatgctg tggacatcga gcatgagaac
     1441 aacaaccgct ttgaggagta tgagtggtgt ggacagaagc ggatacgggc caccactctc
     1501 ctggaaggtg gcttccgagg ctctggcttc atcatgtgca gcggcaaaga gaacccggac
     1561 agtgatgctg acttggatgt ggatggggat gacactctgg agtatgggaa gccacaatac
     1621 acagaggctg atgtcatccc ctgcacaggc gaggagcctg gtgaagccaa ggagagagag
     1681 gcacttcggg gcgcagtcct aaatggcggc cctcccagca cgcgcatcac acctgagttc
     1741 tctaaatggg ccagtgatga gatgccatcc accagcaatg gtgaaagcag caagcaggag
     1801 gccatgcaga agacctgcaa gaacagcgac atcgagaaaa tcaccgaaga ttcagctgtg
     1861 accacgtttg aggctctgaa ggctcgggtc agagaacttg aacggcagct atctcgtggg
     1921 gaccgttaca aatgcctcat ctgcatggac tcgtactcga tgcccctaac gtccatccag
     1981 tgttggcacg tgcactgcga ggagtgctgg ctgcggaccc tgggtgccaa gaagctctgc
     2041 cctcagtgca acacgatcac agcgcccgga gacctgcgga ggatctactt gtgagctatc
     2101 tgccccaggc aggcctcgcc tccagcagcc ccacctgccc ccagcctctg tgacagtgac
     2161 cgtctccctt tgtacatact tgcacacagg ttccccatgt acatacatgc acatactcaa
     2221 acatgcgtac acacacacac atttacacac gcaggactct ggagccagag tagaggctgt
     2281 ggcccaggca ctacctgctg gctcccacct atggtttggg ggccatacct gttccagctc
     2341 tgttcccagg gtggggcagg gaggtggggg ttgggggagt agtggggcac ggctcctaag
     2401 atccagcccc catactgaca gacggacaga cagacatgca aacaccagac tgaagcacat
     2461 gtaatataga ccgtgtatgt ttacaatgtt gtgtataaat gggacaactc ctcgccctct
     2521 acctgtcccc tccccctttg gttgtatgat tttcttcttt tttaagaacc cctggaagca
     2581 gcgcctcctt cagggttggc tgggagctcg gcccatccac ctcttggggt acctgcctct
     2641 ctctctcctg tggtgtccct tccctctccc atgtgctcgg tgttcagtgg tgtatatttc
     2701 ttctcccaga catggggcac acgccccaag ggacatgatc ctctccttag tcttagctca
     2761 tggggctctt tataaggagt tggggggtag aggcaggaaa tgggaaccga gctgaagcag
     2821 aggctgagtt agggggctag aggacagtgc tcctggccac ccagcctctg ctgagaacca
     2881 ttcctgggat tagagctgcc tttcccaggg aaaaagtgtc gtctccccga ccctcccgtg
     2941 ggccctgtgg tgtgatgctg tgtctgtata ttctatacaa aggtacttgt cctttccctt
     3001 tgtaaactac atttgacatg gattaaacca gtataaacag tt
//
