MKRN3_HUMAN
ID MKRN3_HUMAN Reviewed; 507 AA.
AC Q13064;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 183.
DE RecName: Full=Probable E3 ubiquitin-protein ligase makorin-3;
DE EC=2.3.2.27;
DE AltName: Full=RING finger protein 63;
DE AltName: Full=RING-type E3 ubiquitin transferase makorin-3 {ECO:0000305};
DE AltName: Full=Zinc finger protein 127;
GN Name=MKRN3; Synonyms=D15S9, RNF63, ZNF127;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=10196367; DOI=10.1093/hmg/8.5.783;
RA Jong M.T.C., Gray T.A., Ji Y., Glenn C.C., Saitoh S., Driscoll D.J.,
RA Nicholls R.D.;
RT "A novel imprinted gene, encoding a RING zinc-finger protein, and
RT overlapping antisense transcript in the Prader-Willi syndrome critical
RT region.";
RL Hum. Mol. Genet. 8:783-793(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION.
RX PubMed=19066619; DOI=10.1038/ejhg.2008.232;
RA Kanber D., Giltay J., Wieczorek D., Zogel C., Hochstenbach R., Caliebe A.,
RA Kuechler A., Horsthemke B., Buiting K.;
RT "A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-
RT Willi syndrome.";
RL Eur. J. Hum. Genet. 17:582-590(2009).
RN [4]
RP VARIANTS [LARGE SCALE ANALYSIS] MET-145 AND THR-239.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [5]
RP VARIANT CPPB2 SER-365.
RX PubMed=23738509; DOI=10.1056/nejmoa1302160;
RA Abreu A.P., Dauber A., Macedo D.B., Noel S.D., Brito V.N., Gill J.C.,
RA Cukier P., Thompson I.R., Navarro V.M., Gagliardi P.C., Rodrigues T.,
RA Kochi C., Longui C.A., Beckers D., de Zegher F., Montenegro L.R.,
RA Mendonca B.B., Carroll R.S., Hirschhorn J.N., Latronico A.C., Kaiser U.B.;
RT "Central precocious puberty caused by mutations in the imprinted gene
RT MKRN3.";
RL N. Engl. J. Med. 368:2467-2475(2013).
RN [6]
RP INVOLVEMENT IN CPPB2.
RX PubMed=25011910; DOI=10.1159/000362815;
RA Schreiner F., Gohlke B., Hamm M., Korsch E., Woelfle J.;
RT "MKRN3 mutations in familial central precocious puberty.";
RL Horm. Res. Paediatr. 82:122-126(2014).
RN [7]
RP VARIANT CPPB2 GLN-420.
RX PubMed=25316453; DOI=10.1093/humrep/deu256;
RA de Vries L., Gat-Yablonski G., Dror N., Singer A., Phillip M.;
RT "A novel MKRN3 missense mutation causing familial precocious puberty.";
RL Hum. Reprod. 29:2838-2843(2014).
RN [8]
RP VARIANT CPPB2 GLY-340.
RX PubMed=24438377; DOI=10.1210/jc.2013-4084;
RA Settas N., Dacou-Voutetakis C., Karantza M., Kanaka-Gantenbein C.,
RA Chrousos G.P., Voutetakis A.;
RT "Central precocious puberty in a girl and early puberty in her brother
RT caused by a novel mutation in the MKRN3 gene.";
RL J. Clin. Endocrinol. Metab. 99:E647-651(2014).
RN [9]
RP VARIANT CPPB2 ILE-417.
RX PubMed=24628548; DOI=10.1210/jc.2013-3126;
RA Macedo D.B., Abreu A.P., Reis A.C., Montenegro L.R., Dauber A.,
RA Beneduzzi D., Cukier P., Silveira L.F., Teles M.G., Carroll R.S.,
RA Junior G.G., Filho G.G., Gucev Z., Arnhold I.J., de Castro M.,
RA Moreira A.C., Martinelli C.E. Jr., Hirschhorn J.N., Mendonca B.B.,
RA Brito V.N., Antonini S.R., Kaiser U.B., Latronico A.C.;
RT "Central precocious puberty that appears to be sporadic caused by
RT paternally inherited mutations in the imprinted gene makorin ring finger
RT 3.";
RL J. Clin. Endocrinol. Metab. 99:E1097-1103(2014).
CC -!- FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of
CC ubiquitin moieties onto substrate proteins. {ECO:0000250,
CC ECO:0000269|PubMed:19066619}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine +
CC [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-
CC cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.;
CC EC=2.3.2.27;
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- INTERACTION:
CC Q13064; Q8WXI4-2: ACOT11; NbExp=3; IntAct=EBI-2340269, EBI-17721098;
CC Q13064; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-2340269, EBI-10173507;
CC Q13064; P18825: ADRA2C; NbExp=3; IntAct=EBI-2340269, EBI-12015266;
CC Q13064; X5D778: ANKRD11; NbExp=4; IntAct=EBI-2340269, EBI-17183751;
CC Q13064; Q9BQD7: ANTKMT; NbExp=3; IntAct=EBI-2340269, EBI-713602;
CC Q13064; Q92870-2: APBB2; NbExp=3; IntAct=EBI-2340269, EBI-21535880;
CC Q13064; Q9UBZ4: APEX2; NbExp=3; IntAct=EBI-2340269, EBI-742588;
CC Q13064; P29972: AQP1; NbExp=3; IntAct=EBI-2340269, EBI-745213;
CC Q13064; Q03989: ARID5A; NbExp=3; IntAct=EBI-2340269, EBI-948603;
CC Q13064; Q96C12: ARMC5; NbExp=3; IntAct=EBI-2340269, EBI-6425121;
CC Q13064; P54252: ATXN3; NbExp=3; IntAct=EBI-2340269, EBI-946046;
CC Q13064; Q5T686: AVPI1; NbExp=3; IntAct=EBI-2340269, EBI-8640233;
CC Q13064; Q8N1L9: BATF2; NbExp=3; IntAct=EBI-2340269, EBI-742695;
CC Q13064; O43521: BCL2L11; NbExp=3; IntAct=EBI-2340269, EBI-526406;
CC Q13064; Q9BXY8: BEX2; NbExp=6; IntAct=EBI-2340269, EBI-745073;
CC Q13064; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-2340269, EBI-2548012;
CC Q13064; Q9NP55: BPIFA1; NbExp=3; IntAct=EBI-2340269, EBI-953896;
CC Q13064; Q8WW14-2: C10orf82; NbExp=3; IntAct=EBI-2340269, EBI-12831628;
CC Q13064; Q0VAL7: C21orf58; NbExp=3; IntAct=EBI-2340269, EBI-10226774;
CC Q13064; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-2340269, EBI-744556;
CC Q13064; Q8N715: CCDC185; NbExp=3; IntAct=EBI-2340269, EBI-740814;
CC Q13064; Q9BXL8: CDCA4; NbExp=3; IntAct=EBI-2340269, EBI-1773949;
CC Q13064; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-2340269, EBI-739624;
CC Q13064; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-2340269, EBI-12261896;
CC Q13064; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-2340269, EBI-739773;
CC Q13064; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2340269, EBI-3867333;
CC Q13064; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-2340269, EBI-742054;
CC Q13064; Q16610: ECM1; NbExp=3; IntAct=EBI-2340269, EBI-947964;
CC Q13064; Q9BQ95: ECSIT; NbExp=3; IntAct=EBI-2340269, EBI-712452;
CC Q13064; Q12805: EFEMP1; NbExp=3; IntAct=EBI-2340269, EBI-536772;
CC Q13064; Q9H0I2: ENKD1; NbExp=4; IntAct=EBI-2340269, EBI-744099;
CC Q13064; P07992: ERCC1; NbExp=3; IntAct=EBI-2340269, EBI-750962;
CC Q13064; Q9BQ89: FAM110A; NbExp=6; IntAct=EBI-2340269, EBI-1752811;
CC Q13064; Q9H5Z6: FAM124B; NbExp=3; IntAct=EBI-2340269, EBI-741626;
CC Q13064; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-2340269, EBI-745689;
CC Q13064; O95363: FARS2; NbExp=3; IntAct=EBI-2340269, EBI-2513774;
CC Q13064; Q8TAE8: GADD45GIP1; NbExp=3; IntAct=EBI-2340269, EBI-372506;
CC Q13064; P15976-2: GATA1; NbExp=3; IntAct=EBI-2340269, EBI-9090198;
CC Q13064; P55040: GEM; NbExp=3; IntAct=EBI-2340269, EBI-744104;
CC Q13064; Q9NYA3: GOLGA6A; NbExp=3; IntAct=EBI-2340269, EBI-11163335;
CC Q13064; P08631-2: HCK; NbExp=3; IntAct=EBI-2340269, EBI-9834454;
CC Q13064; P07686: HEXB; NbExp=3; IntAct=EBI-2340269, EBI-7133736;
CC Q13064; O14964: HGS; NbExp=3; IntAct=EBI-2340269, EBI-740220;
CC Q13064; P49639: HOXA1; NbExp=3; IntAct=EBI-2340269, EBI-740785;
CC Q13064; P35452-2: HOXD12; NbExp=3; IntAct=EBI-2340269, EBI-17244356;
CC Q13064; O75031: HSF2BP; NbExp=3; IntAct=EBI-2340269, EBI-7116203;
CC Q13064; Q9ULV5-2: HSF4; NbExp=3; IntAct=EBI-2340269, EBI-12056251;
CC Q13064; P05019-2: IGF1; NbExp=3; IntAct=EBI-2340269, EBI-12837046;
CC Q13064; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-2340269, EBI-747204;
CC Q13064; Q9C086: INO80B; NbExp=3; IntAct=EBI-2340269, EBI-715611;
CC Q13064; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-2340269, EBI-2556193;
CC Q13064; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-2340269, EBI-14069005;
CC Q13064; Q13351: KLF1; NbExp=3; IntAct=EBI-2340269, EBI-8284732;
CC Q13064; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-2340269, EBI-6426443;
CC Q13064; O76011: KRT34; NbExp=3; IntAct=EBI-2340269, EBI-1047093;
CC Q13064; O95678: KRT75; NbExp=3; IntAct=EBI-2340269, EBI-2949715;
CC Q13064; O43790: KRT86; NbExp=3; IntAct=EBI-2340269, EBI-9996498;
CC Q13064; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-2340269, EBI-12196745;
CC Q13064; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-2340269, EBI-12805508;
CC Q13064; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-2340269, EBI-10241353;
CC Q13064; Q3LI59: KRTAP21-2; NbExp=3; IntAct=EBI-2340269, EBI-18395721;
CC Q13064; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-2340269, EBI-11962084;
CC Q13064; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-2340269, EBI-18394498;
CC Q13064; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-2340269, EBI-10261141;
CC Q13064; Q14657: LAGE3; NbExp=3; IntAct=EBI-2340269, EBI-1052105;
CC Q13064; Q14847-2: LASP1; NbExp=3; IntAct=EBI-2340269, EBI-9088686;
CC Q13064; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-2340269, EBI-716006;
CC Q13064; O95983-2: MBD3; NbExp=3; IntAct=EBI-2340269, EBI-11978579;
CC Q13064; P59942: MCCD1; NbExp=3; IntAct=EBI-2340269, EBI-11987923;
CC Q13064; O15151: MDM4; NbExp=9; IntAct=EBI-2340269, EBI-398437;
CC Q13064; P50221: MEOX1; NbExp=3; IntAct=EBI-2340269, EBI-2864512;
CC Q13064; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-2340269, EBI-14086479;
CC Q13064; A9UHW6-2: MIF4GD; NbExp=3; IntAct=EBI-2340269, EBI-9118295;
CC Q13064; Q13064: MKRN3; NbExp=7; IntAct=EBI-2340269, EBI-2340269;
CC Q13064; Q6PF18: MORN3; NbExp=3; IntAct=EBI-2340269, EBI-9675802;
CC Q13064; Q96DV4: MRPL38; NbExp=3; IntAct=EBI-2340269, EBI-720441;
CC Q13064; P82932: MRPS6; NbExp=3; IntAct=EBI-2340269, EBI-716172;
CC Q13064; Q9NPC6: MYOZ2; NbExp=3; IntAct=EBI-2340269, EBI-746712;
CC Q13064; Q96AH0: NABP1; NbExp=3; IntAct=EBI-2340269, EBI-2889252;
CC Q13064; P17568: NDUFB7; NbExp=3; IntAct=EBI-2340269, EBI-1246238;
CC Q13064; O00746: NME4; NbExp=3; IntAct=EBI-2340269, EBI-744871;
CC Q13064; Q96NG3: ODAD4; NbExp=3; IntAct=EBI-2340269, EBI-1046387;
CC Q13064; A8MYP8: ODF3B; NbExp=3; IntAct=EBI-2340269, EBI-12010090;
CC Q13064; Q7Z412: PEX26; NbExp=3; IntAct=EBI-2340269, EBI-752057;
CC Q13064; Q16512: PKN1; NbExp=3; IntAct=EBI-2340269, EBI-602382;
CC Q13064; D3DTS7: PMP22; NbExp=3; IntAct=EBI-2340269, EBI-25882629;
CC Q13064; O15160: POLR1C; NbExp=5; IntAct=EBI-2340269, EBI-1055079;
CC Q13064; P01189: POMC; NbExp=3; IntAct=EBI-2340269, EBI-12219503;
CC Q13064; P54646: PRKAA2; NbExp=3; IntAct=EBI-2340269, EBI-1383852;
CC Q13064; Q8WWY3: PRPF31; NbExp=11; IntAct=EBI-2340269, EBI-1567797;
CC Q13064; P0CG20: PRR35; NbExp=3; IntAct=EBI-2340269, EBI-11986293;
CC Q13064; P25786: PSMA1; NbExp=6; IntAct=EBI-2340269, EBI-359352;
CC Q13064; P20618: PSMB1; NbExp=3; IntAct=EBI-2340269, EBI-372273;
CC Q13064; Q03431: PTH1R; NbExp=3; IntAct=EBI-2340269, EBI-2860297;
CC Q13064; Q13882: PTK6; NbExp=3; IntAct=EBI-2340269, EBI-1383632;
CC Q13064; Q9Y272: RASD1; NbExp=3; IntAct=EBI-2340269, EBI-740818;
CC Q13064; Q96IZ5: RBM41; NbExp=3; IntAct=EBI-2340269, EBI-740773;
CC Q13064; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-2340269, EBI-11987469;
CC Q13064; Q8N443: RIBC1; NbExp=3; IntAct=EBI-2340269, EBI-10265323;
CC Q13064; Q2I0M5: RSPO4; NbExp=3; IntAct=EBI-2340269, EBI-12821217;
CC Q13064; Q14D33: RTP5; NbExp=5; IntAct=EBI-2340269, EBI-10217913;
CC Q13064; Q9BWG6: SCNM1; NbExp=8; IntAct=EBI-2340269, EBI-748391;
CC Q13064; Q15637: SF1; NbExp=3; IntAct=EBI-2340269, EBI-744603;
CC Q13064; P31947: SFN; NbExp=3; IntAct=EBI-2340269, EBI-476295;
CC Q13064; P03973: SLPI; NbExp=3; IntAct=EBI-2340269, EBI-355293;
CC Q13064; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-2340269, EBI-358489;
CC Q13064; Q9H7B4: SMYD3; NbExp=3; IntAct=EBI-2340269, EBI-347919;
CC Q13064; P09234: SNRPC; NbExp=3; IntAct=EBI-2340269, EBI-766589;
CC Q13064; O60504: SORBS3; NbExp=3; IntAct=EBI-2340269, EBI-741237;
CC Q13064; Q6RVD6: SPATA8; NbExp=3; IntAct=EBI-2340269, EBI-8635958;
CC Q13064; Q8IWL8: STH; NbExp=3; IntAct=EBI-2340269, EBI-12843506;
CC Q13064; Q9NZ72: STMN3; NbExp=3; IntAct=EBI-2340269, EBI-725557;
CC Q13064; Q9H668: STN1; NbExp=3; IntAct=EBI-2340269, EBI-746930;
CC Q13064; Q96PV0: SYNGAP1; NbExp=3; IntAct=EBI-2340269, EBI-2682386;
CC Q13064; O75478: TADA2A; NbExp=3; IntAct=EBI-2340269, EBI-742268;
CC Q13064; Q13148: TARDBP; NbExp=3; IntAct=EBI-2340269, EBI-372899;
CC Q13064; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-2340269, EBI-745958;
CC Q13064; Q15560: TCEA2; NbExp=3; IntAct=EBI-2340269, EBI-710310;
CC Q13064; Q9BT92: TCHP; NbExp=9; IntAct=EBI-2340269, EBI-740781;
CC Q13064; O95988: TCL1B; NbExp=6; IntAct=EBI-2340269, EBI-727338;
CC Q13064; Q96A09: TENT5B; NbExp=3; IntAct=EBI-2340269, EBI-752030;
CC Q13064; P05549: TFAP2A; NbExp=3; IntAct=EBI-2340269, EBI-347351;
CC Q13064; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-2340269, EBI-1105213;
CC Q13064; Q08117-2: TLE5; NbExp=5; IntAct=EBI-2340269, EBI-11741437;
CC Q13064; Q8N7U7-2: TPRX1; NbExp=3; IntAct=EBI-2340269, EBI-14115717;
CC Q13064; Q12933: TRAF2; NbExp=3; IntAct=EBI-2340269, EBI-355744;
CC Q13064; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-2340269, EBI-10241197;
CC Q13064; O14817: TSPAN4; NbExp=3; IntAct=EBI-2340269, EBI-8652667;
CC Q13064; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-2340269, EBI-9090990;
CC Q13064; Q6PKC3: TXNDC11; NbExp=3; IntAct=EBI-2340269, EBI-749812;
CC Q13064; P51668: UBE2D1; NbExp=4; IntAct=EBI-2340269, EBI-743540;
CC Q13064; P61086: UBE2K; NbExp=3; IntAct=EBI-2340269, EBI-473850;
CC Q13064; Q9BRT2: UQCC2; NbExp=3; IntAct=EBI-2340269, EBI-1054584;
CC Q13064; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-2340269, EBI-739895;
CC Q13064; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-2340269, EBI-9031083;
CC Q13064; Q64LD2-2: WDR25; NbExp=3; IntAct=EBI-2340269, EBI-12032042;
CC Q13064; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-2340269, EBI-12040603;
CC Q13064; B2RXF5: ZBTB42; NbExp=3; IntAct=EBI-2340269, EBI-12287587;
CC Q13064; G3V1X1: ZFC3H1; NbExp=3; IntAct=EBI-2340269, EBI-6448783;
CC Q13064; Q9NU63-3: ZFP57; NbExp=3; IntAct=EBI-2340269, EBI-12879708;
CC Q13064; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-2340269, EBI-11962760;
CC Q13064; Q96IQ9: ZNF414; NbExp=3; IntAct=EBI-2340269, EBI-744257;
CC Q13064; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-2340269, EBI-6427977;
CC Q13064; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-2340269, EBI-16429014;
CC Q13064; P0C7X2: ZNF688; NbExp=3; IntAct=EBI-2340269, EBI-4395732;
CC Q13064; Q9Y2P0: ZNF835; NbExp=3; IntAct=EBI-2340269, EBI-5667516;
CC Q13064; PRO_0000037311 [P0C6X7]: rep; Xeno; NbExp=2; IntAct=EBI-2340269, EBI-25474079;
CC Q13064; PRO_0000449621 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-2340269, EBI-25492388;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10196367}.
CC -!- DISEASE: Precocious puberty, central 2 (CPPB2) [MIM:615346]: A
CC condition defined as the development of secondary sexual
CC characteristics in boys and girls at a chronological age that is 2.5
CC standard deviations below the mean age at onset of puberty in the
CC population. Central precocious puberty results from premature
CC activation of the hypothalamic-pituitary-gonadal axis.
CC {ECO:0000269|PubMed:23738509, ECO:0000269|PubMed:24438377,
CC ECO:0000269|PubMed:24628548, ECO:0000269|PubMed:25011910,
CC ECO:0000269|PubMed:25316453}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: Imprinted, expressed from the paternal chromosome only.
CC A deficiency of MKRN3 is not sufficient to cause Prader-Willi syndrome
CC (PWS).
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DR EMBL; U19107; AAC13989.1; -; Genomic_DNA.
DR EMBL; BC044639; AAH44639.1; -; mRNA.
DR CCDS; CCDS10013.1; -.
DR PIR; G01614; G01614.
DR RefSeq; NP_005655.1; NM_005664.3.
DR AlphaFoldDB; Q13064; -.
DR BioGRID; 113479; 214.
DR IntAct; Q13064; 182.
DR MINT; Q13064; -.
DR STRING; 9606.ENSP00000313881; -.
DR MoonDB; Q13064; Predicted.
DR iPTMnet; Q13064; -.
DR PhosphoSitePlus; Q13064; -.
DR BioMuta; MKRN3; -.
DR DMDM; 17368438; -.
DR EPD; Q13064; -.
DR jPOST; Q13064; -.
DR MassIVE; Q13064; -.
DR MaxQB; Q13064; -.
DR PaxDb; Q13064; -.
DR PeptideAtlas; Q13064; -.
DR PRIDE; Q13064; -.
DR ProteomicsDB; 59127; -.
DR Antibodypedia; 22273; 94 antibodies from 18 providers.
DR DNASU; 7681; -.
DR Ensembl; ENST00000314520.6; ENSP00000313881.3; ENSG00000179455.10.
DR GeneID; 7681; -.
DR KEGG; hsa:7681; -.
DR MANE-Select; ENST00000314520.6; ENSP00000313881.3; NM_005664.4; NP_005655.1.
DR UCSC; uc001ywh.5; human.
DR CTD; 7681; -.
DR DisGeNET; 7681; -.
DR GeneCards; MKRN3; -.
DR GeneReviews; MKRN3; -.
DR HGNC; HGNC:7114; MKRN3.
DR HPA; ENSG00000179455; Tissue enhanced (brain, retina).
DR MalaCards; MKRN3; -.
DR MIM; 603856; gene.
DR MIM; 615346; phenotype.
DR neXtProt; NX_Q13064; -.
DR OpenTargets; ENSG00000179455; -.
DR Orphanet; 169615; Idiopathic central precocious puberty.
DR PharmGKB; PA30833; -.
DR VEuPathDB; HostDB:ENSG00000179455; -.
DR eggNOG; KOG1039; Eukaryota.
DR GeneTree; ENSGT00950000183077; -.
DR HOGENOM; CLU_040815_4_1_1; -.
DR InParanoid; Q13064; -.
DR OMA; SEDQWDL; -.
DR OrthoDB; 1388677at2759; -.
DR PhylomeDB; Q13064; -.
DR TreeFam; TF315108; -.
DR PathwayCommons; Q13064; -.
DR SignaLink; Q13064; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 7681; 13 hits in 1112 CRISPR screens.
DR ChiTaRS; MKRN3; human.
DR GenomeRNAi; 7681; -.
DR Pharos; Q13064; Tbio.
DR PRO; PR:Q13064; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q13064; protein.
DR Bgee; ENSG00000179455; Expressed in ganglionic eminence and 109 other tissues.
DR ExpressionAtlas; Q13064; baseline and differential.
DR Genevisible; Q13064; HS.
DR GO; GO:1990904; C:ribonucleoprotein complex; ISS:FlyBase.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; ISS:FlyBase.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; ISS:FlyBase.
DR GO; GO:0000209; P:protein polyubiquitination; ISS:FlyBase.
DR GO; GO:0016567; P:protein ubiquitination; IBA:GO_Central.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR026294; Makorin_3.
DR InterPro; IPR045072; MKRN-like.
DR InterPro; IPR031644; MKRN1_C.
DR InterPro; IPR041367; Znf-CCCH_4.
DR InterPro; IPR018957; Znf_C3HC4_RING-type.
DR InterPro; IPR000571; Znf_CCCH.
DR InterPro; IPR036855; Znf_CCCH_sf.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR PANTHER; PTHR11224; PTHR11224; 1.
DR PANTHER; PTHR11224:SF38; PTHR11224:SF38; 1.
DR Pfam; PF15815; MKRN1_C; 1.
DR Pfam; PF00097; zf-C3HC4; 1.
DR Pfam; PF18044; zf-CCCH_4; 1.
DR SMART; SM00184; RING; 1.
DR SMART; SM00356; ZnF_C3H1; 3.
DR SUPFAM; SSF90229; SSF90229; 1.
DR PROSITE; PS50103; ZF_C3H1; 3.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Disease variant; Metal-binding; Reference proteome; Repeat; Transferase;
KW Ubl conjugation pathway; Zinc; Zinc-finger.
FT CHAIN 1..507
FT /note="Probable E3 ubiquitin-protein ligase makorin-3"
FT /id="PRO_0000055959"
FT ZN_FING 95..122
FT /note="C3H1-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 238..265
FT /note="C3H1-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT ZN_FING 311..365
FT /note="RING-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT ZN_FING 394..423
FT /note="C3H1-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00723"
FT REGION 1..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 69..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 126..149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 266..293
FT /note="Makorin-type Cys-His"
FT VARIANT 145
FT /note="T -> M (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs371642799)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035955"
FT VARIANT 239
FT /note="S -> T (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035956"
FT VARIANT 340
FT /note="C -> G (in CPPB2)"
FT /evidence="ECO:0000269|PubMed:24438377"
FT /id="VAR_073023"
FT VARIANT 365
FT /note="R -> S (in CPPB2; dbSNP:rs879255240)"
FT /evidence="ECO:0000269|PubMed:23738509"
FT /id="VAR_070103"
FT VARIANT 417
FT /note="F -> I (in CPPB2)"
FT /evidence="ECO:0000269|PubMed:24628548"
FT /id="VAR_073024"
FT VARIANT 420
FT /note="H -> Q (in CPPB2; dbSNP:rs755791221)"
FT /evidence="ECO:0000269|PubMed:25316453"
FT /id="VAR_073025"
SQ SEQUENCE 507 AA; 55645 MW; 2EDBA91190F3A292 CRC64;
MEEPAAPSEA HEAAGAQAGA EAAREGVSGP DLPVCEPSGE SAAPDSALPH AARGWAPFPV
APVPAHLRRG GLRPAPASGG GAWPSPLPSR SSGIWTKQII CRYYIHGQCK EGENCRYSHD
LSGRKMATEG GVSPPGASAG GGPSTAAHIE PPTQEVAEAP PAASSLSLPV IGSAAERGFF
EAERDNADRG AAGGAGVESW ADAIEFVPGQ PYRGRWVASA PEAPLQSSET ERKQMAVGSG
LRFCYYASRG VCFRGESCMY LHGDICDMCG LQTLHPMDAA QREEHMRACI EAHEKDMELS
FAVQRGMDKV CGICMEVVYE KANPNDRRFG ILSNCNHSFC IRCIRRWRSA RQFENRIVKS
CPQCRVTSEL VIPSEFWVEE EEEKQKLIQQ YKEAMSNKAC RYFAEGRGNC PFGDTCFYKH
EYPEGWGDEP PGPGGGSFSA YWHQLVEPVR MGEGNMLYKS IKKELVVLRL ASLLFKRFLS
LRDELPFSED QWDLLHYELE EYFNLIL
