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Database: UniProt
Entry: Q9NVD3
LinkDB: Q9NVD3
Original site: Q9NVD3 
ID   SETD4_HUMAN             Reviewed;         440 AA.
AC   Q9NVD3; B4DT14; D3DSG2; D3DSG4; Q8NE19; Q9BU46;
DT   11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   10-APR-2019, entry version 149.
DE   RecName: Full=SET domain-containing protein 4;
DE            EC=2.1.1.-;
GN   Name=SETD4; Synonyms=C21orf18, C21orf27;
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 [MRNA] (ISOFORM B).
RX   PubMed=11707072; DOI=10.1006/geno.2001.6640;
RA   Reymond A., Friedli M., Neergaard Henrichsen C., Chapot F.,
RA   Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M.,
RA   Antonarakis S.E.;
RT   "From PREDs and open reading frames to cDNA isolation: revisiting the
RT   human chromosome 21 transcription map.";
RL   Genomics 78:46-54(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=10830953; DOI=10.1038/35012518;
RA   Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T.,
RA   Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y.,
RA   Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K.,
RA   Polley A., Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D.,
RA   Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W.,
RA   Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S.,
RA   Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E.,
RA   Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P.,
RA   Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H.,
RA   Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E.,
RA   Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F.,
RA   Lehrach H., Reinhardt R., Yaspo M.-L.;
RT   "The DNA sequence of human chromosome 21.";
RL   Nature 405:311-319(2000).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A; 3 AND 4).
RC   TISSUE=Lung, and Testis;
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   [6]
RP   SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX   PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA   Hillman R.T., Green R.E., Brenner S.E.;
RT   "An unappreciated role for RNA surveillance.";
RL   Genome Biol. 5:R8.1-R8.16(2004).
RN   [7]
RP   VARIANT [LARGE SCALE ANALYSIS] GLY-420.
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.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=A;
CC         IsoId=Q9NVD3-1; Sequence=Displayed;
CC       Name=B;
CC         IsoId=Q9NVD3-2; Sequence=VSP_004146;
CC         Note=May be produced at very low levels due to a premature stop
CC         codon in the mRNA, leading to nonsense-mediated mRNA decay. No
CC         experimental confirmation available.;
CC       Name=3;
CC         IsoId=Q9NVD3-3; Sequence=VSP_026578;
CC         Note=No experimental confirmation available.;
CC       Name=4;
CC         IsoId=Q9NVD3-4; Sequence=VSP_054087, VSP_054088;
CC   -!- SIMILARITY: Belongs to the class V-like SAM-binding
CC       methyltransferase superfamily. {ECO:0000255|PROSITE-
CC       ProRule:PRU00190}.
DR   EMBL; AF391112; AAL34503.1; -; mRNA.
DR   EMBL; AK001660; BAA91819.1; -; mRNA.
DR   EMBL; AK300009; BAG61826.1; -; mRNA.
DR   EMBL; AP000688; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471079; EAX09757.1; -; Genomic_DNA.
DR   EMBL; CH471079; EAX09758.1; -; Genomic_DNA.
DR   EMBL; CH471079; EAX09759.1; -; Genomic_DNA.
DR   EMBL; CH471079; EAX09760.1; -; Genomic_DNA.
DR   EMBL; CH471079; EAX09762.1; -; Genomic_DNA.
DR   EMBL; BC002898; AAH02898.1; -; mRNA.
DR   EMBL; BC036556; AAH36556.1; -; mRNA.
DR   CCDS; CCDS13640.1; -. [Q9NVD3-1]
DR   CCDS; CCDS42923.1; -. [Q9NVD3-4]
DR   CCDS; CCDS74792.1; -. [Q9NVD3-3]
DR   RefSeq; NP_001007260.1; NM_001007259.2. [Q9NVD3-4]
DR   RefSeq; NP_001007262.1; NM_001007261.2.
DR   RefSeq; NP_001273681.1; NM_001286752.1. [Q9NVD3-3]
DR   RefSeq; NP_059134.1; NM_017438.4. [Q9NVD3-1]
DR   RefSeq; XP_011527938.1; XM_011529636.1. [Q9NVD3-1]
DR   RefSeq; XP_011527939.1; XM_011529637.1. [Q9NVD3-1]
DR   RefSeq; XP_011527940.1; XM_011529638.2. [Q9NVD3-1]
DR   RefSeq; XP_011527941.1; XM_011529639.1. [Q9NVD3-1]
DR   RefSeq; XP_011527942.1; XM_011529640.2. [Q9NVD3-1]
DR   RefSeq; XP_011527944.1; XM_011529642.1. [Q9NVD3-3]
DR   RefSeq; XP_011527945.1; XM_011529643.1. [Q9NVD3-3]
DR   RefSeq; XP_011527946.1; XM_011529644.1. [Q9NVD3-3]
DR   RefSeq; XP_016883892.1; XM_017028403.1.
DR   RefSeq; XP_016883893.1; XM_017028404.1. [Q9NVD3-3]
DR   RefSeq; XP_016883894.1; XM_017028405.1. [Q9NVD3-4]
DR   UniGene; Hs.606200; -.
DR   ProteinModelPortal; Q9NVD3; -.
DR   SMR; Q9NVD3; -.
DR   BioGrid; 119892; 11.
DR   IntAct; Q9NVD3; 7.
DR   STRING; 9606.ENSP00000382163; -.
DR   iPTMnet; Q9NVD3; -.
DR   PhosphoSitePlus; Q9NVD3; -.
DR   BioMuta; SETD4; -.
DR   DMDM; 12229715; -.
DR   PaxDb; Q9NVD3; -.
DR   PeptideAtlas; Q9NVD3; -.
DR   PRIDE; Q9NVD3; -.
DR   ProteomicsDB; 82779; -.
DR   ProteomicsDB; 82780; -. [Q9NVD3-2]
DR   ProteomicsDB; 82781; -. [Q9NVD3-3]
DR   DNASU; 54093; -.
DR   Ensembl; ENST00000332131; ENSP00000329189; ENSG00000185917. [Q9NVD3-1]
DR   Ensembl; ENST00000399207; ENSP00000382158; ENSG00000185917. [Q9NVD3-4]
DR   Ensembl; ENST00000399208; ENSP00000382159; ENSG00000185917. [Q9NVD3-4]
DR   Ensembl; ENST00000399212; ENSP00000382161; ENSG00000185917. [Q9NVD3-3]
DR   Ensembl; ENST00000399215; ENSP00000382163; ENSG00000185917. [Q9NVD3-1]
DR   GeneID; 54093; -.
DR   KEGG; hsa:54093; -.
DR   UCSC; uc002yuw.3; human. [Q9NVD3-1]
DR   CTD; 54093; -.
DR   DisGeNET; 54093; -.
DR   EuPathDB; HostDB:ENSG00000185917.13; -.
DR   GeneCards; SETD4; -.
DR   H-InvDB; HIX0019923; -.
DR   H-InvDB; HIX0138443; -.
DR   HGNC; HGNC:1258; SETD4.
DR   HPA; HPA024073; -.
DR   HPA; HPA035405; -.
DR   neXtProt; NX_Q9NVD3; -.
DR   OpenTargets; ENSG00000185917; -.
DR   PharmGKB; PA25814; -.
DR   eggNOG; KOG1337; Eukaryota.
DR   eggNOG; ENOG410Y7DR; LUCA.
DR   GeneTree; ENSGT00940000153577; -.
DR   HOGENOM; HOG000010303; -.
DR   HOVERGEN; HBG051225; -.
DR   InParanoid; Q9NVD3; -.
DR   OMA; GPHDNHR; -.
DR   OrthoDB; 1209399at2759; -.
DR   PhylomeDB; Q9NVD3; -.
DR   TreeFam; TF106421; -.
DR   ChiTaRS; SETD4; human.
DR   GenomeRNAi; 54093; -.
DR   PRO; PR:Q9NVD3; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   Bgee; ENSG00000185917; Expressed in 192 organ(s), highest expression level in oviduct epithelium.
DR   ExpressionAtlas; Q9NVD3; baseline and differential.
DR   Genevisible; Q9NVD3; HS.
DR   GO; GO:0016279; F:protein-lysine N-methyltransferase activity; IBA:GO_Central.
DR   GO; GO:0018026; P:peptidyl-lysine monomethylation; IBA:GO_Central.
DR   GO; GO:0018023; P:peptidyl-lysine trimethylation; IBA:GO_Central.
DR   Gene3D; 3.90.1420.10; -; 1.
DR   InterPro; IPR015353; Rubisco_LSMT_subst-bd.
DR   InterPro; IPR036464; Rubisco_LSMT_subst-bd_sf.
DR   InterPro; IPR001214; SET_dom.
DR   InterPro; IPR016852; SET_MeTrfase.
DR   Pfam; PF09273; Rubis-subs-bind; 1.
DR   Pfam; PF00856; SET; 1.
DR   PIRSF; PIRSF027158; Lys_MTase_YDR198C_prd; 1.
DR   PROSITE; PS50280; SET; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; Methyltransferase;
KW   Polymorphism; Reference proteome; S-adenosyl-L-methionine;
KW   Transferase.
FT   CHAIN         1    440       SET domain-containing protein 4.
FT                                /FTId=PRO_0000079509.
FT   DOMAIN       48    273       SET. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00190}.
FT   VAR_SEQ       1     25       MQKGKGRTSRIRRRKLCGSSESRGV -> M (in
FT                                isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_026578.
FT   VAR_SEQ      70    440       EGQMIISLPESCLLTTDTVIRSYLGAYITKWKPPPSPLLAL
FT                                CTFLVSEKHAGHRSLWKPYLEILPKAYTCPVCLEPEVVNLL
FT                                PKSLKAKAEEQRAHVQEFFASSRDFFSSLQPLFAEAVDSIF
FT                                SYSALLWAWCTVNTRAVYLRPRQRECLSAEPDTCALAPYLD
FT                                LLNHSPHVQVKAAFNEETHSYEIRTTSRWRKHEEVFICYGP
FT                                HDNQRLFLEYGFVSVHNPHACVYVSREILVKYLPSTDKQMD
FT                                KKISILKDHGYIENLTFGWDGPSWRLLTALKLLCLEAEKFT
FT                                CWKKVLLGEVISDTNEKTSLDIAQKICYYFIEETNAVLQKV
FT                                SHMKDEKEALINQLTLVESLWTEELKILRASAETLHSLQTA
FT                                FT -> VEASSISSAGAVHLFSFRKACWAPISLEALPGDFT
FT                                QGVYLPCLFGAGSGEPSSQIFKSKG (in isoform B).
FT                                {ECO:0000303|PubMed:11707072,
FT                                ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_004146.
FT   VAR_SEQ     301    307       EILVKYL -> GWNQLCS (in isoform 4).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_054087.
FT   VAR_SEQ     308    440       Missing (in isoform 4).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_054088.
FT   VARIANT     387    387       I -> V (in dbSNP:rs2835239).
FT                                /FTId=VAR_021948.
FT   VARIANT     420    420       E -> G (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                {ECO:0000269|PubMed:16959974}.
FT                                /FTId=VAR_035988.
FT   CONFLICT    301    440       EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL
FT                                LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI
FT                                CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK
FT                                ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5;
FT                                AAH02898). {ECO:0000305}.
SQ   SEQUENCE   440 AA;  50416 MW;  9EBCAA05397BE287 CRC64;
     MQKGKGRTSR IRRRKLCGSS ESRGVNESHK SEFIELRKWL KARKFQDSNL APACFPGTGR
     GLMSQTSLQE GQMIISLPES CLLTTDTVIR SYLGAYITKW KPPPSPLLAL CTFLVSEKHA
     GHRSLWKPYL EILPKAYTCP VCLEPEVVNL LPKSLKAKAE EQRAHVQEFF ASSRDFFSSL
     QPLFAEAVDS IFSYSALLWA WCTVNTRAVY LRPRQRECLS AEPDTCALAP YLDLLNHSPH
     VQVKAAFNEE THSYEIRTTS RWRKHEEVFI CYGPHDNQRL FLEYGFVSVH NPHACVYVSR
     EILVKYLPST DKQMDKKISI LKDHGYIENL TFGWDGPSWR LLTALKLLCL EAEKFTCWKK
     VLLGEVISDT NEKTSLDIAQ KICYYFIEET NAVLQKVSHM KDEKEALINQ LTLVESLWTE
     ELKILRASAE TLHSLQTAFT
//
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