ID   MET27_HUMAN             Reviewed;         245 AA.
AC   Q8N6F8;
DT   21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   27-MAR-2024, entry version 147.
DE   RecName: Full=Methyltransferase-like protein 27 {ECO:0000312|HGNC:HGNC:19068};
DE   AltName: Full=Williams-Beuren syndrome chromosomal region 27 protein {ECO:0000312|HGNC:HGNC:19068};
GN   Name=METTL27 {ECO:0000312|HGNC:HGNC:19068};
GN   Synonyms=WBSCR27 {ECO:0000312|HGNC:HGNC:19068};
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 [MRNA], AND VARIANTS ARG-107 AND TRP-171.
RA   Tassabehji M.;
RT   "Genes deleted in Williams-Beuren Syndrome.";
RL   Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-107 AND TRP-171, AND POSSIBLE
RP   INVOLVEMENT IN WILLIAMS-BEUREN SYNDROME.
RX   PubMed=18398435; DOI=10.1038/ejhg.2008.68;
RA   Micale L., Fusco C., Augello B., Napolitano L.M.R., Dermitzakis E.T.,
RA   Meroni G., Merla G., Reymond A.;
RT   "Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.";
RL   Eur. J. Hum. Genet. 16:1038-1049(2008).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-107 AND TRP-171.
RC   TISSUE=Mammary gland;
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).
CC   -!- INTERACTION:
CC       Q8N6F8; Q9NQ94: A1CF; NbExp=3; IntAct=EBI-8487781, EBI-2809489;
CC       Q8N6F8; P24539: ATP5PB; NbExp=3; IntAct=EBI-8487781, EBI-1044810;
CC       Q8N6F8; P54253: ATXN1; NbExp=9; IntAct=EBI-8487781, EBI-930964;
CC       Q8N6F8; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-8487781, EBI-8624731;
CC       Q8N6F8; P46379-2: BAG6; NbExp=3; IntAct=EBI-8487781, EBI-10988864;
CC       Q8N6F8; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-8487781, EBI-744556;
CC       Q8N6F8; P33240: CSTF2; NbExp=3; IntAct=EBI-8487781, EBI-711360;
CC       Q8N6F8; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-8487781, EBI-12593112;
CC       Q8N6F8; O14645: DNALI1; NbExp=3; IntAct=EBI-8487781, EBI-395638;
CC       Q8N6F8; Q6PKX4: DOK6; NbExp=3; IntAct=EBI-8487781, EBI-2880244;
CC       Q8N6F8; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-8487781, EBI-743105;
CC       Q8N6F8; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-8487781, EBI-744099;
CC       Q8N6F8; Q99958: FOXC2; NbExp=3; IntAct=EBI-8487781, EBI-3956892;
CC       Q8N6F8; P14136: GFAP; NbExp=3; IntAct=EBI-8487781, EBI-744302;
CC       Q8N6F8; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-8487781, EBI-748515;
CC       Q8N6F8; O95872: GPANK1; NbExp=3; IntAct=EBI-8487781, EBI-751540;
CC       Q8N6F8; O14964: HGS; NbExp=3; IntAct=EBI-8487781, EBI-740220;
CC       Q8N6F8; P04792: HSPB1; NbExp=3; IntAct=EBI-8487781, EBI-352682;
CC       Q8N6F8; P42858: HTT; NbExp=9; IntAct=EBI-8487781, EBI-466029;
CC       Q8N6F8; O60333-2: KIF1B; NbExp=3; IntAct=EBI-8487781, EBI-10975473;
CC       Q8N6F8; O14901: KLF11; NbExp=3; IntAct=EBI-8487781, EBI-948266;
CC       Q8N6F8; P61968: LMO4; NbExp=3; IntAct=EBI-8487781, EBI-2798728;
CC       Q8N6F8; Q13449: LSAMP; NbExp=3; IntAct=EBI-8487781, EBI-4314821;
CC       Q8N6F8; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-8487781, EBI-6190702;
CC       Q8N6F8; P19404: NDUFV2; NbExp=3; IntAct=EBI-8487781, EBI-713665;
CC       Q8N6F8; P29474: NOS3; NbExp=3; IntAct=EBI-8487781, EBI-1391623;
CC       Q8N6F8; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-8487781, EBI-12025760;
CC       Q8N6F8; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-8487781, EBI-2811583;
CC       Q8N6F8; Q92569: PIK3R3; NbExp=3; IntAct=EBI-8487781, EBI-79893;
CC       Q8N6F8; P78337: PITX1; NbExp=5; IntAct=EBI-8487781, EBI-748265;
CC       Q8N6F8; O43741: PRKAB2; NbExp=3; IntAct=EBI-8487781, EBI-1053424;
CC       Q8N6F8; O75360: PROP1; NbExp=3; IntAct=EBI-8487781, EBI-9027467;
CC       Q8N6F8; P60891: PRPS1; NbExp=3; IntAct=EBI-8487781, EBI-749195;
CC       Q8N6F8; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-8487781, EBI-396669;
CC       Q8N6F8; Q7Z5V6-2: SAXO4; NbExp=3; IntAct=EBI-8487781, EBI-12000762;
CC       Q8N6F8; P37840: SNCA; NbExp=3; IntAct=EBI-8487781, EBI-985879;
CC       Q8N6F8; P14678-2: SNRPB; NbExp=3; IntAct=EBI-8487781, EBI-372475;
CC       Q8N6F8; P09234: SNRPC; NbExp=3; IntAct=EBI-8487781, EBI-766589;
CC       Q8N6F8; Q13148: TARDBP; NbExp=6; IntAct=EBI-8487781, EBI-372899;
CC       Q8N6F8; O95947: TBX6; NbExp=3; IntAct=EBI-8487781, EBI-2824328;
CC       Q8N6F8; Q9BXF9: TEKT3; NbExp=3; IntAct=EBI-8487781, EBI-8644516;
CC       Q8N6F8; Q92734: TFG; NbExp=3; IntAct=EBI-8487781, EBI-357061;
CC       Q8N6F8; O43711: TLX3; NbExp=3; IntAct=EBI-8487781, EBI-3939165;
CC       Q8N6F8; P02766: TTR; NbExp=3; IntAct=EBI-8487781, EBI-711909;
CC       Q8N6F8; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-8487781, EBI-2559305;
CC       Q8N6F8; O76024: WFS1; NbExp=3; IntAct=EBI-8487781, EBI-720609;
CC       Q8N6F8; Q15915: ZIC1; NbExp=3; IntAct=EBI-8487781, EBI-11963196;
CC       Q8N6F8; Q15935: ZNF77; NbExp=3; IntAct=EBI-8487781, EBI-12840750;
CC   -!- DISEASE: Note=METTL27 is located in the Williams-Beuren syndrome (WBS)
CC       critical region. WBS results from a hemizygous deletion of several
CC       genes on chromosome 7q11.23, thought to arise as a consequence of
CC       unequal crossing over between highly homologous low-copy repeat
CC       sequences flanking the deleted region. Haploinsufficiency of METTL27
CC       may be the cause of certain cardiovascular and musculo-skeletal
CC       abnormalities observed in the disease. {ECO:0000269|Ref.1}.
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DR   EMBL; AF534110; AAN63884.1; -; mRNA.
DR   EMBL; AY354928; AAQ55828.1; -; mRNA.
DR   EMBL; AC093168; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC030295; AAH30295.1; -; mRNA.
DR   CCDS; CCDS5561.1; -.
DR   RefSeq; NP_689772.2; NM_152559.2.
DR   AlphaFoldDB; Q8N6F8; -.
DR   SMR; Q8N6F8; -.
DR   BioGRID; 127581; 53.
DR   IntAct; Q8N6F8; 52.
DR   MINT; Q8N6F8; -.
DR   STRING; 9606.ENSP00000297873; -.
DR   iPTMnet; Q8N6F8; -.
DR   PhosphoSitePlus; Q8N6F8; -.
DR   BioMuta; METTL27; -.
DR   DMDM; 296453033; -.
DR   MassIVE; Q8N6F8; -.
DR   PaxDb; 9606-ENSP00000297873; -.
DR   PeptideAtlas; Q8N6F8; -.
DR   ProteomicsDB; 72165; -.
DR   Antibodypedia; 14461; 82 antibodies from 21 providers.
DR   DNASU; 155368; -.
DR   Ensembl; ENST00000297873.9; ENSP00000297873.4; ENSG00000165171.11.
DR   GeneID; 155368; -.
DR   KEGG; hsa:155368; -.
DR   MANE-Select; ENST00000297873.9; ENSP00000297873.4; NM_152559.3; NP_689772.2.
DR   UCSC; uc003tzj.3; human.
DR   AGR; HGNC:19068; -.
DR   CTD; 155368; -.
DR   GeneCards; METTL27; -.
DR   HGNC; HGNC:19068; METTL27.
DR   HPA; ENSG00000165171; Tissue enhanced (choroid).
DR   MalaCards; METTL27; -.
DR   MIM; 612546; gene.
DR   neXtProt; NX_Q8N6F8; -.
DR   OpenTargets; ENSG00000165171; -.
DR   Orphanet; 904; Williams syndrome.
DR   PharmGKB; PA134905115; -.
DR   VEuPathDB; HostDB:ENSG00000165171; -.
DR   eggNOG; KOG1541; Eukaryota.
DR   GeneTree; ENSGT00530000063975; -.
DR   HOGENOM; CLU_090201_4_0_1; -.
DR   InParanoid; Q8N6F8; -.
DR   OMA; CMALYEK; -.
DR   OrthoDB; 3043434at2759; -.
DR   PhylomeDB; Q8N6F8; -.
DR   TreeFam; TF329435; -.
DR   PathwayCommons; Q8N6F8; -.
DR   SignaLink; Q8N6F8; -.
DR   BioGRID-ORCS; 155368; 13 hits in 1143 CRISPR screens.
DR   GenomeRNAi; 155368; -.
DR   Pharos; Q8N6F8; Tdark.
DR   PRO; PR:Q8N6F8; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q8N6F8; Protein.
DR   Bgee; ENSG00000165171; Expressed in right uterine tube and 91 other cell types or tissues.
DR   ExpressionAtlas; Q8N6F8; baseline and differential.
DR   CDD; cd02440; AdoMet_MTases; 1.
DR   Gene3D; 3.40.50.150; Vaccinia Virus protein VP39; 1.
DR   InterPro; IPR041698; Methyltransf_25.
DR   InterPro; IPR029063; SAM-dependent_MTases_sf.
DR   PANTHER; PTHR43591; METHYLTRANSFERASE; 1.
DR   PANTHER; PTHR43591:SF106; METHYLTRANSFERASE-LIKE PROTEIN 27; 1.
DR   Pfam; PF13649; Methyltransf_25; 1.
DR   SUPFAM; SSF53335; S-adenosyl-L-methionine-dependent methyltransferases; 1.
DR   Genevisible; Q8N6F8; HS.
PE   1: Evidence at protein level;
KW   Reference proteome; Williams-Beuren syndrome.
FT   CHAIN           1..245
FT                   /note="Methyltransferase-like protein 27"
FT                   /id="PRO_0000223961"
FT   VARIANT         107
FT                   /note="Q -> R (in dbSNP:rs13241921)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:18398435, ECO:0000269|Ref.1"
FT                   /id="VAR_060385"
FT   VARIANT         171
FT                   /note="S -> W (in dbSNP:rs13232463)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:18398435, ECO:0000269|Ref.1"
FT                   /id="VAR_060386"
FT   CONFLICT        216
FT                   /note="R -> W (in Ref. 1; AAN63884, 2; AAQ55828 and 4;
FT                   AAH30295)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   245 AA;  26522 MW;  B63EAA80942533F7 CRC64;
     MAQEEGGSLP EVRARVRAAH GIPDLAQKLH FYDRWAPDYD QDVATLLYRA PRLAVDCLTQ
     ALPGPPHSAL ILDVACGTGL VAAELRAPGF LQLHGVDGSP GMLEQAQAPG LYQRLSLCTL
     GQEPLPSPEG TFDAVLIVGA LSDGQVPCNA IPELHVTKPG GLVCLTTRTN SSNLQYKEAL
     EATLDRLEQA GMWEGLVAWP VDRLWTAGSW LPPSWRWYPA SLPRMASSPA LSTCTESGRR
     PRLRK
//