GenomeNet

Database: UniProt
Entry: Q8TBK2
LinkDB: Q8TBK2
Original site: Q8TBK2 
ID   SETD6_HUMAN             Reviewed;         473 AA.
AC   Q8TBK2; A8K380; B5ME38; Q9H787;
DT   03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT   05-OCT-2010, sequence version 2.
DT   13-FEB-2019, entry version 127.
DE   RecName: Full=N-lysine methyltransferase SETD6;
DE            EC=2.1.1.-;
DE   AltName: Full=SET domain-containing protein 6;
GN   Name=SETD6;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15616553; DOI=10.1038/nature03187;
RA   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X.,
RA   Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A.,
RA   Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.,
RA   Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L.,
RA   Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A.,
RA   Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D.,
RA   Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J.,
RA   Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA   Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I.,
RA   Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W.,
RA   Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A.,
RA   Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S.,
RA   Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA   Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA   Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L.,
RA   Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A.,
RA   Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L.,
RA   Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N.,
RA   Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M.,
RA   Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L.,
RA   Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D.,
RA   Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P.,
RA   Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M.,
RA   Rubin E.M., Pennacchio L.A.;
RT   "The sequence and analysis of duplication-rich human chromosome 16.";
RL   Nature 432:988-994(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP   SER-185 AND GLY-206.
RC   TISSUE=Brain;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   FUNCTION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF TYR-285.
RX   PubMed=21131967; DOI=10.1038/ni.1968;
RA   Levy D., Kuo A.J., Chang Y., Schaefer U., Kitson C., Cheung P.,
RA   Espejo A., Zee B.M., Liu C.L., Tangsombatvisit S., Tennen R.I.,
RA   Kuo A.Y., Tanjing S., Cheung R., Chua K.F., Utz P.J., Shi X.,
RA   Prinjha R.K., Lee K., Garcia B.A., Bedford M.T., Tarakhovsky A.,
RA   Cheng X., Gozani O.;
RT   "Lysine methylation of the NF-kappaB subunit RelA by SETD6 couples
RT   activity of the histone methyltransferase GLP at chromatin to tonic
RT   repression of NF-kappaB signaling.";
RL   Nat. Immunol. 12:29-36(2011).
RN   [5]
RP   FUNCTION.
RX   PubMed=23324626; DOI=10.4161/epi.23416;
RA   Binda O., Sevilla A., LeRoy G., Lemischka I.R., Garcia B.A.,
RA   Richard S.;
RT   "SETD6 monomethylates H2AZ on lysine 7 and is required for the
RT   maintenance of embryonic stem cell self-renewal.";
RL   Epigenetics 8:177-183(2013).
CC   -!- FUNCTION: Protein-lysine N-methyltransferase. Monomethylates 'Lys-
CC       310' of the RELA subunit of NF-kappa-B complex, leading to down-
CC       regulate NF-kappa-B transcription factor activity
CC       (PubMed:21131967). Monomethylates 'Lys-8' of H2AZ (H2AZK8me1)
CC       (PubMed:23324626). Required for the maintenance of embryonic stem
CC       cell self-renewal (By similarity). {ECO:0000250|UniProtKB:Q9CWY3,
CC       ECO:0000269|PubMed:21131967, ECO:0000269|PubMed:23324626}.
CC   -!- INTERACTION:
CC       Q04207:Rela (xeno); NbExp=4; IntAct=EBI-3863032, EBI-644400;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21131967}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8TBK2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TBK2-2; Sequence=VSP_024093;
CC         Note=No experimental confirmation available.;
CC   -!- SIMILARITY: Belongs to the class V-like SAM-binding
CC       methyltransferase superfamily. Histone-lysine methyltransferase
CC       family. SETD6 subfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}.
DR   EMBL; AK024801; BAB15011.1; -; mRNA.
DR   EMBL; AK290495; BAF83184.1; -; mRNA.
DR   EMBL; AC009118; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC022451; AAH22451.1; -; mRNA.
DR   CCDS; CCDS10798.1; -. [Q8TBK2-2]
DR   CCDS; CCDS54013.1; -. [Q8TBK2-1]
DR   RefSeq; NP_001153777.1; NM_001160305.2. [Q8TBK2-1]
DR   RefSeq; NP_079136.2; NM_024860.3. [Q8TBK2-2]
DR   UniGene; Hs.731691; -.
DR   PDB; 3QXY; X-ray; 2.09 A; A/B=1-473.
DR   PDB; 3RC0; X-ray; 2.19 A; A/B=1-473.
DR   PDBsum; 3QXY; -.
DR   PDBsum; 3RC0; -.
DR   ProteinModelPortal; Q8TBK2; -.
DR   SMR; Q8TBK2; -.
DR   BioGrid; 122996; 2.
DR   IntAct; Q8TBK2; 4.
DR   STRING; 9606.ENSP00000219315; -.
DR   BindingDB; Q8TBK2; -.
DR   iPTMnet; Q8TBK2; -.
DR   PhosphoSitePlus; Q8TBK2; -.
DR   BioMuta; SETD6; -.
DR   DMDM; 308153495; -.
DR   EPD; Q8TBK2; -.
DR   jPOST; Q8TBK2; -.
DR   MaxQB; Q8TBK2; -.
DR   PaxDb; Q8TBK2; -.
DR   PeptideAtlas; Q8TBK2; -.
DR   PRIDE; Q8TBK2; -.
DR   ProteomicsDB; 74022; -.
DR   ProteomicsDB; 74023; -. [Q8TBK2-2]
DR   Ensembl; ENST00000219315; ENSP00000219315; ENSG00000103037. [Q8TBK2-1]
DR   Ensembl; ENST00000310682; ENSP00000310082; ENSG00000103037. [Q8TBK2-2]
DR   GeneID; 79918; -.
DR   KEGG; hsa:79918; -.
DR   UCSC; uc002enr.4; human. [Q8TBK2-1]
DR   CTD; 79918; -.
DR   DisGeNET; 79918; -.
DR   EuPathDB; HostDB:ENSG00000103037.11; -.
DR   GeneCards; SETD6; -.
DR   H-InvDB; HIX0013092; -.
DR   HGNC; HGNC:26116; SETD6.
DR   HPA; HPA041481; -.
DR   HPA; HPA053546; -.
DR   MIM; 616424; gene.
DR   neXtProt; NX_Q8TBK2; -.
DR   OpenTargets; ENSG00000103037; -.
DR   PharmGKB; PA143485614; -.
DR   eggNOG; KOG1338; Eukaryota.
DR   eggNOG; ENOG410ZN0H; LUCA.
DR   GeneTree; ENSGT00940000153577; -.
DR   HOGENOM; HOG000264234; -.
DR   HOVERGEN; HBG108475; -.
DR   InParanoid; Q8TBK2; -.
DR   KO; K05302; -.
DR   OMA; TCSIGGL; -.
DR   OrthoDB; 490654at2759; -.
DR   PhylomeDB; Q8TBK2; -.
DR   TreeFam; TF106399; -.
DR   Reactome; R-HSA-3214841; PKMTs methylate histone lysines.
DR   ChiTaRS; SETD6; human.
DR   GenomeRNAi; 79918; -.
DR   PRO; PR:Q8TBK2; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   Bgee; ENSG00000103037; Expressed in 216 organ(s), highest expression level in secondary oocyte.
DR   ExpressionAtlas; Q8TBK2; baseline and differential.
DR   Genevisible; Q8TBK2; HS.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0051059; F:NF-kappaB binding; IPI:UniProtKB.
DR   GO; GO:0016279; F:protein-lysine N-methyltransferase activity; IDA:UniProtKB.
DR   GO; GO:0034968; P:histone lysine methylation; IDA:UniProtKB.
DR   GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; IMP:UniProtKB.
DR   GO; GO:0018026; P:peptidyl-lysine monomethylation; IDA:UniProtKB.
DR   GO; GO:0050727; P:regulation of inflammatory response; IMP:UniProtKB.
DR   GO; GO:0048863; P:stem cell differentiation; ISS:UniProtKB.
DR   GO; GO:0019827; P:stem cell population maintenance; ISS:UniProtKB.
DR   Gene3D; 3.90.1420.10; -; 1.
DR   InterPro; IPR011383; N-lys_methylase_SETD6.
DR   InterPro; IPR015353; Rubisco_LSMT_subst-bd.
DR   InterPro; IPR036464; Rubisco_LSMT_subst-bd_sf.
DR   InterPro; IPR001214; SET_dom.
DR   Pfam; PF09273; Rubis-subs-bind; 1.
DR   Pfam; PF00856; SET; 1.
DR   PIRSF; PIRSF011771; RMS1_SET; 1.
DR   SUPFAM; SSF81822; SSF81822; 1.
DR   PROSITE; PS50280; SET; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Complete proteome;
KW   Methyltransferase; Nucleus; Polymorphism; Reference proteome;
KW   S-adenosyl-L-methionine; Transferase.
FT   CHAIN         1    473       N-lysine methyltransferase SETD6.
FT                                /FTId=PRO_0000281889.
FT   DOMAIN       60    286       SET. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00190}.
FT   VAR_SEQ      40     63       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_024093.
FT   VARIANT     185    185       R -> S (in dbSNP:rs17852020).
FT                                {ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_064590.
FT   VARIANT     206    206       R -> G (in dbSNP:rs17852021).
FT                                {ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_064591.
FT   VARIANT     340    340       D -> N (in dbSNP:rs11865588).
FT                                /FTId=VAR_064592.
FT   VARIANT     426    426       T -> A (in dbSNP:rs34965375).
FT                                /FTId=VAR_064593.
FT   VARIANT     445    445       A -> V (in dbSNP:rs36085499).
FT                                /FTId=VAR_064594.
FT   MUTAGEN     285    285       Y->A: Abolishes methyltransferase
FT                                activity. {ECO:0000269|PubMed:21131967}.
FT   CONFLICT    102    102       T -> A (in Ref. 1; BAF83184).
FT                                {ECO:0000305}.
FT   CONFLICT    118    118       S -> G (in Ref. 1; BAB15011).
FT                                {ECO:0000305}.
FT   CONFLICT    227    227       E -> V (in Ref. 1; BAB15011).
FT                                {ECO:0000305}.
FT   HELIX        20     32       {ECO:0000244|PDB:3QXY}.
FT   STRAND       65     70       {ECO:0000244|PDB:3QXY}.
FT   STRAND       72     81       {ECO:0000244|PDB:3QXY}.
FT   STRAND       88     93       {ECO:0000244|PDB:3QXY}.
FT   HELIX        94     96       {ECO:0000244|PDB:3QXY}.
FT   STRAND       97     99       {ECO:0000244|PDB:3RC0}.
FT   TURN        100    102       {ECO:0000244|PDB:3QXY}.
FT   HELIX       106    111       {ECO:0000244|PDB:3QXY}.
FT   HELIX       114    116       {ECO:0000244|PDB:3QXY}.
FT   STRAND      119    121       {ECO:0000244|PDB:3QXY}.
FT   HELIX       123    134       {ECO:0000244|PDB:3QXY}.
FT   HELIX       141    144       {ECO:0000244|PDB:3QXY}.
FT   HELIX       150    152       {ECO:0000244|PDB:3QXY}.
FT   HELIX       156    158       {ECO:0000244|PDB:3QXY}.
FT   HELIX       161    168       {ECO:0000244|PDB:3QXY}.
FT   HELIX       173    190       {ECO:0000244|PDB:3QXY}.
FT   HELIX       192    198       {ECO:0000244|PDB:3QXY}.
FT   TURN        200    202       {ECO:0000244|PDB:3QXY}.
FT   HELIX       205    207       {ECO:0000244|PDB:3QXY}.
FT   HELIX       210    223       {ECO:0000244|PDB:3QXY}.
FT   HELIX       247    249       {ECO:0000244|PDB:3QXY}.
FT   STRAND      257    262       {ECO:0000244|PDB:3QXY}.
FT   STRAND      264    273       {ECO:0000244|PDB:3QXY}.
FT   STRAND      280    283       {ECO:0000244|PDB:3QXY}.
FT   HELIX       290    297       {ECO:0000244|PDB:3QXY}.
FT   STRAND      310    314       {ECO:0000244|PDB:3QXY}.
FT   HELIX       315    324       {ECO:0000244|PDB:3QXY}.
FT   HELIX       329    344       {ECO:0000244|PDB:3QXY}.
FT   STRAND      353    363       {ECO:0000244|PDB:3QXY}.
FT   HELIX       364    375       {ECO:0000244|PDB:3QXY}.
FT   HELIX       378    386       {ECO:0000244|PDB:3QXY}.
FT   TURN        402    404       {ECO:0000244|PDB:3QXY}.
FT   HELIX       405    407       {ECO:0000244|PDB:3QXY}.
FT   HELIX       410    424       {ECO:0000244|PDB:3QXY}.
FT   STRAND      427    429       {ECO:0000244|PDB:3QXY}.
FT   HELIX       431    439       {ECO:0000244|PDB:3QXY}.
FT   HELIX       441    446       {ECO:0000244|PDB:3QXY}.
FT   HELIX       449    471       {ECO:0000244|PDB:3QXY}.
SQ   SEQUENCE   473 AA;  53189 MW;  3BFC08F0FACEAACC CRC64;
     MATQAKRPRV AGPVDGGDLD PVACFLSWCR RVGLELSPKV SERAGGRRTR GGARAALTSP
     PAQVAVSRQG TVAGYGMVAR ESVQAGELLF VVPRAALLSQ HTCSIGGLLE RERVALQSQS
     GWVPLLLALL HELQAPASRW RPYFALWPEL GRLEHPMFWP EEERRCLLQG TGVPEAVEKD
     LANIRSEYQS IVLPFMEAHP DLFSLRVRSL ELYHQLVALV MAYSFQEPLE EEEDEKEPNS
     PVMVPAADIL NHLANHNANL EYSANCLRMV ATQPIPKGHE IFNTYGQMAN WQLIHMYGFV
     EPYPDNTDDT ADIQMVTVRE AALQGTKTEA ERHLVYERWD FLCKLEMVGE EGAFVIGREE
     VLTEEELTTT LKVLCMPAEE FRELKDQDGG GDDKREEGSL TITNIPKLKA SWRQLLQNSV
     LLTLQTYATD LKTDQGLLSN KEVYAKLSWR EQQALQVRYG QKMILHQLLE LTS
//
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