MET27_HUMAN
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 03-AUG-2022, entry version 138.
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; Q7Z5V6-2: PPP1R32; NbExp=3; IntAct=EBI-8487781, EBI-12000762;
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; 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; 52.
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; Q8N6F8; -.
DR PeptideAtlas; Q8N6F8; -.
DR PRIDE; Q8N6F8; -.
DR Antibodypedia; 14461; 73 antibodies from 20 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 CTD; 155368; -.
DR GeneCards; METTL27; -.
DR HGNC; HGNC:19068; METTL27.
DR HPA; ENSG00000165171; Low tissue specificity.
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; 785883at2759; -.
DR PhylomeDB; Q8N6F8; -.
DR TreeFam; TF329435; -.
DR PathwayCommons; Q8N6F8; -.
DR SignaLink; Q8N6F8; -.
DR BioGRID-ORCS; 155368; 13 hits in 1064 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 90 other tissues.
DR ExpressionAtlas; Q8N6F8; baseline and differential.
DR Genevisible; Q8N6F8; HS.
DR GO; GO:0008168; F:methyltransferase activity; IBA:GO_Central.
DR GO; GO:0008757; F:S-adenosylmethionine-dependent methyltransferase activity; IEA:UniProt.
DR GO; GO:0071704; P:organic substance metabolic process; IEA:UniProt.
DR Gene3D; 3.40.50.150; -; 1.
DR InterPro; IPR041698; Methyltransf_25.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR Pfam; PF13649; Methyltransf_25; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
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
