LOCUS       NM_005664               2371 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.
ACCESSION   NM_005664
VERSION     NM_005664.4
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 2371)
  AUTHORS   Aiello,F., Palumbo,S., Cirillo,G., Tornese,G., Fava,D.,
            Wasniewska,M., Faienza,M.F., Bozzola,M., Luongo,C., Festa,A.,
            Miraglia Del Giudice,E. and Grandone,A.
  TITLE     MKRN3 circulating levels in girls with central precocious puberty
            caused by MKRN3 gene mutations
  JOURNAL   J Endocrinol Invest 47 (6), 1477-1485 (2024)
   PUBMED   38112911
  REMARK    GeneRIF: MKRN3 circulating levels in girls with central precocious
            puberty caused by MKRN3 gene mutations.
REFERENCE   2  (bases 1 to 2371)
  AUTHORS   Magnotto,J.C., Mancini,A., Bird,K., Montenegro,L., Tutunculer,F.,
            Pereira,S.A., Simas,V., Garcia,L., Roberts,S.A., Macedo,D.,
            Magnuson,M., Gagliardi,P., Mauras,N., Witchel,S.F., Carroll,R.S.,
            Latronico,A.C., Kaiser,U.B. and Abreu,A.P.
  TITLE     Novel MKRN3 Missense Mutations Associated With Central Precocious
            Puberty Reveal Distinct Effects on Ubiquitination
  JOURNAL   J Clin Endocrinol Metab 108 (7), 1646-1656 (2023)
   PUBMED   36916482
  REMARK    GeneRIF: Novel MKRN3 Missense Mutations Associated With Central
            Precocious Puberty Reveal Distinct Effects on Ubiquitination.
REFERENCE   3  (bases 1 to 2371)
  AUTHORS   Eren,S.E. and Simsek,E.
  TITLE     Comparison of Makorin Ring Finger Protein 3 Levels Between Obese
            and Normal Weight Patients with Central Precocious Puberty
  JOURNAL   J Clin Res Pediatr Endocrinol 15 (2), 182-189 (2023)
   PUBMED   36728292
  REMARK    GeneRIF: Comparison of Makorin Ring Finger Protein 3 Levels Between
            Obese and Normal Weight Patients with Central Precocious Puberty.
REFERENCE   4  (bases 1 to 2371)
  AUTHORS   Naule,L., Mancini,A., Pereira,S.A., Gassaway,B.M., Lydeard,J.R.,
            Magnotto,J.C., Kim,H.K., Liang,J., Matos,C., Gygi,S.P.,
            Merkle,F.T., Carroll,R.S., Abreu,A.P. and Kaiser,U.B.
  TITLE     MKRN3 inhibits puberty onset via interaction with IGF2BP1 and
            regulation of hypothalamic plasticity
  JOURNAL   JCI Insight 8 (8), e164178 (2023)
   PUBMED   37092553
  REMARK    GeneRIF: MKRN3 inhibits puberty onset via interaction with IGF2BP1
            and regulation of hypothalamic plasticity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2371)
  AUTHORS   Kirkgoz,T., Kaygusuz,S.B., Alavanda,C., Helvacioglu,D., Abali,Z.Y.,
            Tosun,B.G., Eltan,M., Menevse,T.S., Guran,T., Arman,A., Turan,S.
            and Bereket,A.
  TITLE     Molecular analysis of MKRN3 gene in Turkish girls with sporadic and
            familial idiopathic central precocious puberty
  JOURNAL   J Pediatr Endocrinol Metab 36 (4), 401-408 (2023)
   PUBMED   36883204
  REMARK    GeneRIF: Molecular analysis of MKRN3 gene in Turkish girls with
            sporadic and familial idiopathic central precocious puberty.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2371)
  AUTHORS   Pfefferle,S., Schopf,J., Kogl,M., Friedel,C.C., Muller,M.A.,
            Carbajo-Lozoya,J., Stellberger,T., von Dall'Armi,E., Herzog,P.,
            Kallies,S., Niemeyer,D., Ditt,V., Kuri,T., Zust,R., Pumpor,K.,
            Hilgenfeld,R., Schwarz,F., Zimmer,R., Steffen,I., Weber,F.,
            Thiel,V., Herrler,G., Thiel,H.J., Schwegmann-Wessels,C.,
            Pohlmann,S., Haas,J., Drosten,C. and von Brunn,A.
  TITLE     The SARS-coronavirus-host interactome: identification of
            cyclophilins as target for pan-coronavirus inhibitors
  JOURNAL   PLoS Pathog 7 (10), e1002331 (2011)
   PUBMED   22046132
REFERENCE   7  (bases 1 to 2371)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (bases 1 to 2371)
  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   9  (bases 1 to 2371)
  AUTHORS   Butler,M.G.
  TITLE     Genomic imprinting disorders in humans: a mini-review
  JOURNAL   J Assist Reprod Genet 26 (9-10), 477-486 (2009)
   PUBMED   19844787
  REMARK    Review article
REFERENCE   10 (bases 1 to 2371)
  AUTHORS   Jong,M.T., Gray,T.A., Ji,Y., Glenn,C.C., Saitoh,S., Driscoll,D.J.
            and Nicholls,R.D.
  TITLE     A novel imprinted gene, encoding a RING zinc-finger protein, and
            overlapping antisense transcript in the Prader-Willi syndrome
            critical region
  JOURNAL   Hum Mol Genet 8 (5), 783-793 (1999)
   PUBMED   10196367
  REMARK    GeneRIF: MKRN3 gene is imprinted, with preferential expression from
            the paternal allele.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA495139.1, BC044639.1 and
            AC126407.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005664.3.
            
            Summary: The protein encoded by this gene contains a RING (C3HC4)
            zinc finger motif and several C3H zinc finger motifs. This gene is
            intronless and imprinted, with expression only from the paternal
            allele. Disruption of the imprinting at this locus may contribute
            to Prader-Willi syndrome. An antisense RNA of unknown function has
            been found overlapping this gene. [provided by RefSeq, Jul 2008].
            
            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 is intronless :: SRR1803616.86777.1, SRR1803611.109736.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene         :: PMID: 10196367
            MANE Ensembl match     :: ENST00000314520.6/ ENSP00000313881.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-540               DA495139.1         13-552
            541-2347            BC044639.1         531-2337
            2348-2371           AC126407.6         54779-54802
FEATURES             Location/Qualifiers
     source          1..2371
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     gene            1..2371
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /note="makorin ring finger protein 3"
                     /db_xref="GeneID:7681"
                     /db_xref="HGNC:HGNC:7114"
                     /db_xref="MIM:603856"
     exon            1..2371
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1633
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /EC_number="2.3.2.27"
                     /note="zinc finger protein 127; probable E3
                     ubiquitin-protein ligase makorin-3; RING finger protein
                     63; RING-type E3 ubiquitin transferase makorin-3"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase makorin-3"
                     /protein_id="NP_005655.1"
                     /db_xref="CCDS:CCDS10013.1"
                     /db_xref="GeneID:7681"
                     /db_xref="HGNC:HGNC:7114"
                     /db_xref="MIM:603856"
                     /translation="MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAP
                     DSALPHAARGWAPFPVAPVPAHLRRGGLRPAPASGGGAWPSPLPSRSSGIWTKQIICR
                     YYIHGQCKEGENCRYSHDLSGRKMATEGGVSPPGASAGGGPSTAAHIEPPTQEVAEAP
                     PAASSLSLPVIGSAAERGFFEAERDNADRGAAGGAGVESWADAIEFVPGQPYRGRWVA
                     SAPEAPLQSSETERKQMAVGSGLRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHP
                     MDAAQREEHMRACIEAHEKDMELSFAVQRGMDKVCGICMEVVYEKANPNDRRFGILSN
                     CNHSFCIRCIRRWRSARQFENRIVKSCPQCRVTSELVIPSEFWVEEEEEKQKLIQQYK
                     EAMSNKACRYFAEGRGNCPFGDTCFYKHEYPEGWGDEPPGPGGGSFSAYWHQLVEPVR
                     MGEGNMLYKSIKKELVVLRLASLLFKRFLSLRDELPFSEDQWDLLHYELEEYFNLIL"
     regulatory      2329..2334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /note="hexamer: AGTAAA"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /note="hexamer: AATACA"
     polyA_site      2347
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
     polyA_site      2371
                     /gene="MKRN3"
                     /gene_synonym="CPPB2; D15S9; RNF63; ZFP127; ZNF127"
                     /note="major polyA site"
ORIGIN      
        1 acacttcccc cagagaagcc tccgagcgcg gccgccattc cgggcctcaa gcccataaag
       61 aaaaaatacc ggagaggttc tggcaccatt tcggggtgcc aaagcagcca tggaagagcc
      121 tgcagctccc tcagaagccc acgaggcagc cggggcccag gcaggtgctg aggcagcaag
      181 ggagggtgtg tctgggccgg accttcccgt ctgtgagccc tccggggaat ctgctgctcc
      241 agattcagcc ctgccacatg cggcaagggg ctgggccccc ttccctgtag ctccagtccc
      301 tgcccacctc cgcagaggag gcctgaggcc tgccccagcc tcaggaggag gagcctggcc
      361 cagtccgttg ccaagccgaa gcagcggcat ttggacaaag cagatcatct gcaggtatta
      421 tatacatggg cagtgcaagg agggggagaa ctgtcgctat tcgcacgacc tttctggtcg
      481 gaagatggcc actgagggtg gcgtttcgcc gcctggggcc tctgcaggtg gaggccctag
      541 cacggctgcg cacatcgagc ccccgactca ggaagtggcg gaagcccccc cggctgcatc
      601 ctccctttcc ttgcctgtga ttggctcggc tgctgaaagg ggtttctttg aagccgagag
      661 agacaatgca gaccgtggag ctgctggagg agcaggtgta gaaagctggg cggatgccat
      721 tgagtttgtt ccagggcagc cctaccgggg ccgctgggtt gcatctgccc ccgaggctcc
      781 tctacagagc tcagagactg agaggaagca gatggctgtg ggcagtgggt tgcggttttg
      841 ctattatgct tccaggggag tttgctttcg tggggagagc tgtatgtacc tccatggaga
      901 catatgcgac atgtgtgggc tgcagacctt gcaccccatg gatgctgccc agagggaaga
      961 acatatgagg gcctgcattg aagcacacga gaaagatatg gaactctcgt ttgctgtgca
     1021 gcgtggtatg gacaaggtgt gtggcatctg catggaggtt gtctatgaga aggccaaccc
     1081 caatgaccgc cgctttggca ttctttccaa ttgcaaccat tccttctgta ttaggtgtat
     1141 ccgcaggtgg agaagtgcca gacagtttga gaacaggatc gtcaagtctt gcccacagtg
     1201 cagggtcacc tctgaattgg tcattcccag tgagttctgg gtggaggagg aggaagagaa
     1261 gcagaaactt attcagcaat acaaggaggc aatgagcaac aaggcctgca ggtattttgc
     1321 ggaaggcagg ggtaactgcc catttggaga cacatgcttt tacaagcatg aataccctga
     1381 gggctgggga gatgagcctc ctgggccagg tggtgggtca ttcagcgcat actggcatca
     1441 acttgtggag cctgtgcgaa tgggagaggg caacatgctc tataaaagca ttaagaagga
     1501 gcttgtcgtg cttcggctgg ccagtctgtt gtttaagcgg tttctttcac tgagagatga
     1561 gttacccttc tctgaggacc agtgggactt gcttcattat gagctggaag aatatttcaa
     1621 tttgattctg tagcatcgtg ctgtggcatg tggtctagtc tgctgaggtt ctgtcgtctg
     1681 ctattgcctg ttttccctgt gttgacactc ttactgcttt caggggctgt tgaggcagtg
     1741 cttctgtttt cttgtctatt ctgcatatct ttccccctag gattatggtg attatctgtg
     1801 ttaaaaaata agtccttaaa gttactgttt tggtgaaatt aatattaatg tcagcttatg
     1861 gctttttttt gtcatctctg ttgtcaacag gattaactca gttctagtgt agtgtttact
     1921 gaatttccac acttattttg aagaccctca agagtaaatg tggcagagtg aaaggagaag
     1981 ttttaattga actagtagct ttgtgctata atagccttaa caaatggacc cttgcagggc
     2041 tttgcagctg ctcatctgtt tgtttacagt ttgttctttc cctccttccc cttcaagtgc
     2101 acttgttaaa ctgtgatgaa cttgtgattt tgtgttttac ttgaccaaaa ccaagtgtat
     2161 atgtttacat gtttttatcc tgtttagctt gacatgaaat aatttatatt tggaaatata
     2221 tatttaagaa ttatatatat aaaaatatat atgtataaga gttatgtatt tgaaaaaaat
     2281 atataaaaga atatacatca caatataata tttatgttta tgtaataaag taaatacaga
     2341 gctgaaagct gaaggtcaaa gcctaacagg a
//
