GenomeNet

Database: UniProt
Entry: Q8IYR2
LinkDB: Q8IYR2
Original site: Q8IYR2 
ID   SMYD4_HUMAN             Reviewed;         804 AA.
AC   Q8IYR2; Q8N1P2; Q8NAT0; Q96LV4; Q96PV2;
DT   21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 3.
DT   13-FEB-2019, entry version 128.
DE   RecName: Full=SET and MYND domain-containing protein 4;
DE            EC=2.1.1.-;
GN   Name=SMYD4; Synonyms=KIAA1936;
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], AND VARIANTS ILE-131 AND
RP   CYS-727.
RC   TISSUE=Cerebellum, and Tongue;
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 MRNA], AND VARIANTS ILE-131 AND
RP   CYS-727.
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 197-754, AND VARIANTS
RP   TRP-562 AND CYS-727.
RC   TISSUE=Brain;
RX   PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA   Nagase T., Kikuno R., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XXI.
RT   The complete sequences of 60 new cDNA clones from brain which code for
RT   large proteins.";
RL   DNA Res. 8:179-187(2001).
RN   [4]
RP   VARIANT PRO-601.
RX   PubMed=21248752; DOI=10.1038/nature09639;
RA   Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P.,
RA   Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A.,
RA   Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C.,
RA   Jia M., Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A.,
RA   Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S.,
RA   Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A.,
RA   Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C.,
RA   Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R.,
RA   Futreal P.A.;
RT   "Exome sequencing identifies frequent mutation of the SWI/SNF complex
RT   gene PBRM1 in renal carcinoma.";
RL   Nature 469:539-542(2011).
CC   -!- SIMILARITY: Belongs to the class V-like SAM-binding
CC       methyltransferase superfamily. {ECO:0000255|PROSITE-
CC       ProRule:PRU00190}.
DR   EMBL; AK057769; BAB71564.1; -; mRNA.
DR   EMBL; AK095369; BAC04538.1; -; mRNA.
DR   EMBL; BC035077; AAH35077.1; -; mRNA.
DR   EMBL; AB067523; BAB67829.1; -; mRNA.
DR   CCDS; CCDS11013.1; -.
DR   RefSeq; NP_443160.2; NM_052928.2.
DR   UniGene; Hs.514602; -.
DR   ProteinModelPortal; Q8IYR2; -.
DR   SMR; Q8IYR2; -.
DR   BioGrid; 125376; 4.
DR   IntAct; Q8IYR2; 3.
DR   STRING; 9606.ENSP00000304360; -.
DR   iPTMnet; Q8IYR2; -.
DR   PhosphoSitePlus; Q8IYR2; -.
DR   BioMuta; SMYD4; -.
DR   DMDM; 296452956; -.
DR   EPD; Q8IYR2; -.
DR   jPOST; Q8IYR2; -.
DR   MaxQB; Q8IYR2; -.
DR   PaxDb; Q8IYR2; -.
DR   PeptideAtlas; Q8IYR2; -.
DR   PRIDE; Q8IYR2; -.
DR   ProteomicsDB; 71215; -.
DR   Ensembl; ENST00000305513; ENSP00000304360; ENSG00000186532.
DR   GeneID; 114826; -.
DR   KEGG; hsa:114826; -.
DR   UCSC; uc002ftm.5; human.
DR   CTD; 114826; -.
DR   DisGeNET; 114826; -.
DR   EuPathDB; HostDB:ENSG00000186532.11; -.
DR   GeneCards; SMYD4; -.
DR   H-InvDB; HIX0017748; -.
DR   HGNC; HGNC:21067; SMYD4.
DR   HPA; HPA030059; -.
DR   neXtProt; NX_Q8IYR2; -.
DR   OpenTargets; ENSG00000186532; -.
DR   PharmGKB; PA134925431; -.
DR   eggNOG; KOG2084; Eukaryota.
DR   eggNOG; COG2940; LUCA.
DR   GeneTree; ENSGT00730000111079; -.
DR   HOGENOM; HOG000118355; -.
DR   HOVERGEN; HBG082493; -.
DR   InParanoid; Q8IYR2; -.
DR   OMA; GQEILHC; -.
DR   OrthoDB; 1278034at2759; -.
DR   PhylomeDB; Q8IYR2; -.
DR   TreeFam; TF106441; -.
DR   ChiTaRS; SMYD4; human.
DR   GeneWiki; SMYD4; -.
DR   GenomeRNAi; 114826; -.
DR   PRO; PR:Q8IYR2; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000186532; Expressed in 149 organ(s), highest expression level in gastrocnemius.
DR   ExpressionAtlas; Q8IYR2; baseline and differential.
DR   Genevisible; Q8IYR2; HS.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0008168; F:methyltransferase activity; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.40.10; -; 2.
DR   InterPro; IPR001214; SET_dom.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR002893; Znf_MYND.
DR   Pfam; PF00856; SET; 1.
DR   Pfam; PF01753; zf-MYND; 1.
DR   SUPFAM; SSF48452; SSF48452; 1.
DR   PROSITE; PS50280; SET; 1.
DR   PROSITE; PS01360; ZF_MYND_1; 1.
DR   PROSITE; PS50865; ZF_MYND_2; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; Metal-binding; Methyltransferase; Polymorphism;
KW   Reference proteome; S-adenosyl-L-methionine; Transferase; Zinc;
KW   Zinc-finger.
FT   CHAIN         1    804       SET and MYND domain-containing protein 4.
FT                                /FTId=PRO_0000227784.
FT   DOMAIN      233    574       SET. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00190}.
FT   ZN_FING     296    335       MYND-type. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00134}.
FT   REGION      112    114       S-adenosyl-L-methionine binding.
FT                                {ECO:0000250}.
FT   REGION      539    540       S-adenosyl-L-methionine binding.
FT                                {ECO:0000250}.
FT   BINDING     427    427       S-adenosyl-L-methionine.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00190}.
FT   BINDING     573    573       S-adenosyl-L-methionine.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00190}.
FT   BINDING     595    595       S-adenosyl-L-methionine.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00190}.
FT   VARIANT     101    101       N -> D (in dbSNP:rs9907701).
FT                                /FTId=VAR_057495.
FT   VARIANT     131    131       R -> I (in dbSNP:rs7224496).
FT                                {ECO:0000269|PubMed:14702039,
FT                                ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_025626.
FT   VARIANT     236    236       G -> S (in dbSNP:rs9913923).
FT                                /FTId=VAR_057496.
FT   VARIANT     374    374       I -> M (in dbSNP:rs9890631).
FT                                /FTId=VAR_057497.
FT   VARIANT     382    382       P -> R (in dbSNP:rs3809875).
FT                                /FTId=VAR_057498.
FT   VARIANT     562    562       R -> W (in dbSNP:rs11549830).
FT                                {ECO:0000269|PubMed:11572484}.
FT                                /FTId=VAR_025628.
FT   VARIANT     601    601       A -> P (found in a renal cell carcinoma
FT                                sample; somatic mutation).
FT                                {ECO:0000269|PubMed:21248752}.
FT                                /FTId=VAR_064755.
FT   VARIANT     727    727       Y -> C (in dbSNP:rs9902398).
FT                                {ECO:0000269|PubMed:11572484,
FT                                ECO:0000269|PubMed:14702039,
FT                                ECO:0000269|PubMed:15489334}.
FT                                /FTId=VAR_025627.
FT   CONFLICT    326    326       A -> V (in Ref. 2; AAH35077).
FT                                {ECO:0000305}.
FT   CONFLICT    511    511       H -> R (in Ref. 1; BAC04538).
FT                                {ECO:0000305}.
FT   CONFLICT    514    514       P -> S (in Ref. 1; BAC04538).
FT                                {ECO:0000305}.
SQ   SEQUENCE   804 AA;  89225 MW;  982F8BFEF40A49A2 CRC64;
     MDLPVDEWKS YLLQKWASLP TSVQVTISTA ETLRDIFLHS SSLLQPEDEL FLKRLSKGYL
     VGKDSDAPLF YREEGNKKFQ EKDYTGAAVL YSKGVSHSRP NTEDMSLCHA NRSAALFHLG
     QYETCLKDIN RAQTHGYPER LQPKIMLRKA ECLVALGRLQ EASQTISDLE RNFTATPALA
     DVLPQTLQRN LHRLKMKMQE KDSLTESFPA ALAKTLEDAA LREENEQLSN ASSSIGLCVD
     PLKGRCLVAT KDILPGELLV QEDAFVSVLN PGELPPPHHG LDSKWDTRVT NGDLYCHRCL
     KHTLATVPCD GCSYAKYCSQ ECLQQAWELY HRTECPLGGL LLTLGVFCHI ALRLTLLVGF
     EDVRKIITKL CDKISNKDIC LPESNNQVKT LNYGLGESEK NGNIVETPIP GCDINGKYEN
     NYNAVFNLLP HTENHSPEHK FLCALCVSAL CRQLEAASLQ AIPTERIVNS SQLKAAVTPE
     LCPDVTIWGV AMLRHMLQLQ CNAQAMTTIQ HTGPKGSIVT DSRQVRLATG IFPVISLLNH
     SCSPNTSVSF ISTVATIRAS QRIRKGQEIL HCYGPHKSRM GVAERQQKLR SQYFFDCACP
     ACQTEAHRMA AGPRWEAFCC NSCGAPMQGD DVLRCGSRSC AESAVSRDHL VSRLQDLQQQ
     VRVAQKLLRD GELERAVQRL SGCQRDAESF LWAEHAVVGE IADGLARACA ALGDWQKSAT
     HLQRSLYVVE VRHGPSSVEM GHELFKLAQI FFNGFAVPEA LSTIQKAEEV LSLHCGPWDD
     EIQELQKMKS CLLDLPPTPV GPAL
//
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