Q8IYR2 (SMYD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SET and MYND domain-containing protein 4

Gene names

Name:	SMYD4
Synonyms:	KIAA1936

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	804 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 MYND-type zinc finger. Contains 1 SET domain.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Zinc-finger
Ligand	Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 804	804	SET and MYND domain-containing protein 4		PRO_0000227784
Regions
	Domain	460 – 578	119	SET
	Zinc finger	296 – 335	40	MYND-type
	Region	112 – 114	3	S-adenosyl-L-methionine binding By similarity
	Region	539 – 540	2	S-adenosyl-L-methionine binding By similarity
Sites
	Binding site	427	1	S-adenosyl-L-methionine By similarity
	Binding site	573	1	S-adenosyl-L-methionine By similarity
	Binding site	595	1	S-adenosyl-L-methionine By similarity
Natural variations
	Natural variant	101	1	N → D. Corresponds to variant rs9907701 [ dbSNP | Ensembl ].		VAR_057495
	Natural variant	131	1	R → I. Ref.1 Ref.2 Corresponds to variant rs7224496 [ dbSNP | Ensembl ].		VAR_025626
	Natural variant	236	1	G → S. Corresponds to variant rs9913923 [ dbSNP | Ensembl ].		VAR_057496
	Natural variant	374	1	I → M. Corresponds to variant rs9890631 [ dbSNP | Ensembl ].		VAR_057497
	Natural variant	382	1	P → R. Corresponds to variant rs3809875 [ dbSNP | Ensembl ].		VAR_057498
	Natural variant	562	1	R → W. Ref.3 Corresponds to variant rs11549830 [ dbSNP | Ensembl ].		VAR_025628
	Natural variant	601	1	A → P Found in a renal cell carcinoma sample; somatic mutation. Ref.4		VAR_064755
	Natural variant	727	1	Y → C. Ref.1 Ref.2 Ref.3 Corresponds to variant rs9902398 [ dbSNP | Ensembl ].		VAR_025627
Experimental info
	Sequence conflict	326	1	A → V in AAH35077. Ref.2
	Sequence conflict	511	1	H → R in BAC04538. Ref.1
	Sequence conflict	514	1	P → S in BAC04538. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8IYR2 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 982F8BFEF40A49A2	FASTA	804	89,225
	10 20 30 40 50 60 MDLPVDEWKS YLLQKWASLP TSVQVTISTA ETLRDIFLHS SSLLQPEDEL FLKRLSKGYL 70 80 90 100 110 120 VGKDSDAPLF YREEGNKKFQ EKDYTGAAVL YSKGVSHSRP NTEDMSLCHA NRSAALFHLG 130 140 150 160 170 180 QYETCLKDIN RAQTHGYPER LQPKIMLRKA ECLVALGRLQ EASQTISDLE RNFTATPALA 190 200 210 220 230 240 DVLPQTLQRN LHRLKMKMQE KDSLTESFPA ALAKTLEDAA LREENEQLSN ASSSIGLCVD 250 260 270 280 290 300 PLKGRCLVAT KDILPGELLV QEDAFVSVLN PGELPPPHHG LDSKWDTRVT NGDLYCHRCL 310 320 330 340 350 360 KHTLATVPCD GCSYAKYCSQ ECLQQAWELY HRTECPLGGL LLTLGVFCHI ALRLTLLVGF 370 380 390 400 410 420 EDVRKIITKL CDKISNKDIC LPESNNQVKT LNYGLGESEK NGNIVETPIP GCDINGKYEN 430 440 450 460 470 480 NYNAVFNLLP HTENHSPEHK FLCALCVSAL CRQLEAASLQ AIPTERIVNS SQLKAAVTPE 490 500 510 520 530 540 LCPDVTIWGV AMLRHMLQLQ CNAQAMTTIQ HTGPKGSIVT DSRQVRLATG IFPVISLLNH 550 560 570 580 590 600 SCSPNTSVSF ISTVATIRAS QRIRKGQEIL HCYGPHKSRM GVAERQQKLR SQYFFDCACP 610 620 630 640 650 660 ACQTEAHRMA AGPRWEAFCC NSCGAPMQGD DVLRCGSRSC AESAVSRDHL VSRLQDLQQQ 670 680 690 700 710 720 VRVAQKLLRD GELERAVQRL SGCQRDAESF LWAEHAVVGE IADGLARACA ALGDWQKSAT 730 740 750 760 770 780 HLQRSLYVVE VRHGPSSVEM GHELFKLAQI FFNGFAVPEA LSTIQKAEEV LSLHCGPWDD 790 800 EIQELQKMKS CLLDLPPTPV GPAL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-131 AND CYS-727. Tissue: Cerebellum and Tongue.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ILE-131 AND CYS-727. Tissue: Brain.
[3]	"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 197-754, VARIANTS TRP-562 AND CYS-727. Tissue: Brain.
[4]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A. Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PRO-601.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK057769 mRNA. Translation: BAB71564.1. AK095369 mRNA. Translation: BAC04538.1. BC035077 mRNA. Translation: AAH35077.1. AB067523 mRNA. Translation: BAB67829.1.
IPI	IPI00410192.
RefSeq	NP_443160.2. NM_052928.2.
UniGene	Hs.514602.
3D structure databases
ProteinModelPortal	Q8IYR2.
SMR	Q8IYR2. Positions 296-337, 490-617.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IYR2. 1 interaction.
STRING	9606.ENSP00000304360.
PTM databases
PhosphoSite	Q8IYR2.
Polymorphism databases
DMDM	296452956.
Proteomic databases
PaxDb	Q8IYR2.
PRIDE	Q8IYR2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000305513; ENSP00000304360; ENSG00000186532.
GeneID	114826.
KEGG	hsa:114826.
UCSC	uc002ftm.4. human.
Organism-specific databases
CTD	114826.
GeneCards	GC17M001682.
H-InvDB	HIX0017748.
HGNC	HGNC:21067. SMYD4.
HPA	HPA030059.
neXtProt	NX_Q8IYR2.
PharmGKB	PA134925431.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271719.
HOGENOM	HOG000118355.
HOVERGEN	HBG082493.
InParanoid	Q8IYR2.
OMA	SSVEMGH.
OrthoDB	EOG4MKNFM.
PhylomeDB	Q8IYR2.
Gene expression databases
ArrayExpress	Q8IYR2.
Bgee	Q8IYR2.
CleanEx	HS_SMYD4.
Genevestigator	Q8IYR2.
GermOnline	ENSG00000186532. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 1 hit.
InterPro	IPR001214. SET_dom. IPR011990. TPR-like_helical. IPR002893. Znf_MYND. [Graphical view]
Pfam	PF00856. SET. 1 hit. PF01753. zf-MYND. 1 hit. [Graphical view]
SMART	SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS50280. SET. 1 hit. PS01360. ZF_MYND_1. 1 hit. PS50865. ZF_MYND_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SMYD4. human.
GenomeRNAi	114826.
NextBio	79327.

Entry information

Entry name

SMYD4_HUMAN

Accession

Primary (citable) accession number: Q8IYR2
Secondary accession number(s): Q8N1P2 , Q8NAT0, Q96LV4, Q96PV2

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.