Reviewed, UniProtKB/Swiss-Prot Q4FZB7 (SUV41_HUMAN)

Names and origin

Protein names

Recommended name:
    Histone-lysine N-methyltransferase SUV420H1
    EC=2.1.1.43
Alternative name(s):
    Suppressor of variegation 4-20 homolog 1
      Short name=Su(var)4-20 homolog 1
      Short name=Suv4-20h1
    Lysine N-methyltransferase 5B

Gene names

Name:	SUV420H1
Synonyms:	KMT5B
ORF Names:	CGI-85

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	885 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. SUV420H1 is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) By similarity.
Catalytic activity	S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.
Subunit structure	Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 By similarity.
Subcellular location	Nucleus. Note: Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin By similarity.
Induction	Strongly down-regulated in breast cancer cells. Ref.7
Sequence similarities	Belongs to the histone-lysine methyltransferase family. Suvar4-20 subfamily. Contains 1 SET domain.
Sequence caution	The sequence AAG36937.1 differs from that shown. Reason: Frameshift at positions 233, 249, 254 and 272. The sequence AAI04484.1 differs from that shown. Reason: Frameshift at position 396.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Chromosomal protein Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	S-adenosyl-L-methionine
Molecular function	Chromatin regulator Methyltransferase Repressor Transferase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	chromosome Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
YWHAQ	P27348	1	EBI-1047962,EBI-359854

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q4FZB7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q4FZB7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     392-393: TS → SK
     394-885: Missing.

Isoform 3 (identifier: Q4FZB7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-414: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 885	885	Histone-lysine N-methyltransferase SUV420H1		PRO_0000281787
Regions
	Domain	193 – 312	120	SET
Natural variations
	Alternative sequence	1 – 414	414	Missing in isoform 3.		VSP_024050
	Alternative sequence	392 – 393	2	TS → SK in isoform 2.		VSP_024051
	Alternative sequence	394 – 885	492	Missing in isoform 2.		VSP_024052
	Natural variant	9	1	I → N: dbSNP rs2512606. Ref.1		VAR_047765
Experimental info
	Sequence conflict	74	1	A → P in AAD34080. Ref.4
	Sequence conflict	79	1	E → G in AAD34080. Ref.4
	Sequence conflict	99	1	K → Q in AAD34080. Ref.4
	Sequence conflict	108	1	R → W in AAG36937. Ref.3
	Sequence conflict	123	1	N → K in AAD34080. Ref.4
	Sequence conflict	135	1	E → G in AAD34080. Ref.4
	Sequence conflict	469	1	K → E in BAA90905. Ref.5
	Sequence conflict	483	1	V → A in BAA90905. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: B4D4812C1F1A64AB	FASTA	885	99,187
	10 20 30 40 50 60 MKWLGESKIM VVNGRRNGGK LSNDHQQNQS KLQHTGKDTL KAGKNAVERR SNRCNGNSGF 70 80 90 100 110 120 EGQSRYVPSS GMSAKELCEN DDLATSLVLD PYLGFQTHKM NTSAFPSRSS RHFSKSDSFS 130 140 150 160 170 180 HNNPVRFRPI KGRQEELKEV IERFKKDEHL EKAFKCLTSG EWARHYFLNK NKMQEKLFKE 190 200 210 220 230 240 HVFIYLRMFA TDSGFEILPC NRYSSEQNGA KIVATKEWKR NDKIELLVGC IAELSEIEEN 250 260 270 280 290 300 MLLRHGENDF SVMYSTRKNC AQLWLGPAAF INHDCRPNCK FVSTGRDTAC VKALRDIEPG 310 320 330 340 350 360 EEISCYYGDG FFGENNEFCE CYTCERRGTG AFKSRVGLPA PAPVINSKYG LRETDKRLNR 370 380 390 400 410 420 LKKLGDSSKN SDSQSVSSNT DADTTQEKNN ATSNRKSSVG VKKNSKSRTL TRQSMSRIPA 430 440 450 460 470 480 SSNSTSSKLT HINNSRVPKK LKKPAKPLLS KIKLRNHCKR LEQKNASRKL EMGNLVLKEP 490 500 510 520 530 540 KVVLYKNLPI KKDKEPEGPA QAAVASGCLT RHAAREHRQN PVRGAHSQGE SSPCTYITRR 550 560 570 580 590 600 SVRTRTNLKE ASDIKLEPNT LNGYKSSVTE PCPDSGEQLQ PAPVLQEEEL AHETAQKGEA 610 620 630 640 650 660 KCHKSDTGMS KKKSRQGKLV KQFAKIEEST PVHDSPGKDD AVPDLMGPHS DQGEHSGTVG 670 680 690 700 710 720 VPVSYTDCAP SPVGCSVVTS DSFKTKDSFR TAKSKKKRRI TRYDAQLILE NNSGIPKLTL 730 740 750 760 770 780 RRRHDSSSKT NDQENDGMNS SKISIKLSKD HDNDNNLYVA KLNNGFNSGS GSSSTKLKIQ 790 800 810 820 830 840 LKRDEENRGS YTEGLHENGV CCSDPLSLLE SRMEVDDYSQ YEEESTDDSS SSEGDEEEDD 850 860 870 880 YDDDFEDDFI PLPPAKRLRL IVGKDSIDID ISSRRREDQS LRLNA
	Isoform 2. Checksum: DED229EA65E36B95	FASTA	393	44,617
	10 20 30 40 50 60 MKWLGESKIM VVNGRRNGGK LSNDHQQNQS KLQHTGKDTL KAGKNAVERR SNRCNGNSGF 70 80 90 100 110 120 EGQSRYVPSS GMSAKELCEN DDLATSLVLD PYLGFQTHKM NTSAFPSRSS RHFSKSDSFS 130 140 150 160 170 180 HNNPVRFRPI KGRQEELKEV IERFKKDEHL EKAFKCLTSG EWARHYFLNK NKMQEKLFKE 190 200 210 220 230 240 HVFIYLRMFA TDSGFEILPC NRYSSEQNGA KIVATKEWKR NDKIELLVGC IAELSEIEEN 250 260 270 280 290 300 MLLRHGENDF SVMYSTRKNC AQLWLGPAAF INHDCRPNCK FVSTGRDTAC VKALRDIEPG 310 320 330 340 350 360 EEISCYYGDG FFGENNEFCE CYTCERRGTG AFKSRVGLPA PAPVINSKYG LRETDKRLNR 370 380 390 LKKLGDSSKN SDSQSVSSNT DADTTQEKNN ASK
	Isoform 3. Checksum: FA448321C89D5AA1	FASTA	471	52,271
	10 20 30 40 50 60 MSRIPASSNS TSSKLTHINN SRVPKKLKKP AKPLLSKIKL RNHCKRLEQK NASRKLEMGN 70 80 90 100 110 120 LVLKEPKVVL YKNLPIKKDK EPEGPAQAAV ASGCLTRHAA REHRQNPVRG AHSQGESSPC 130 140 150 160 170 180 TYITRRSVRT RTNLKEASDI KLEPNTLNGY KSSVTEPCPD SGEQLQPAPV LQEEELAHET 190 200 210 220 230 240 AQKGEAKCHK SDTGMSKKKS RQGKLVKQFA KIEESTPVHD SPGKDDAVPD LMGPHSDQGE 250 260 270 280 290 300 HSGTVGVPVS YTDCAPSPVG CSVVTSDSFK TKDSFRTAKS KKKRRITRYD AQLILENNSG 310 320 330 340 350 360 IPKLTLRRRH DSSSKTNDQE NDGMNSSKIS IKLSKDHDND NNLYVAKLNN GFNSGSGSSS 370 380 390 400 410 420 TKLKIQLKRD EENRGSYTEG LHENGVCCSD PLSLLESRME VDDYSQYEEE STDDSSSSEG 430 440 450 460 470 DEEEDDYDDD FEDDFIPLPP AKRLRLIVGK DSIDIDISSR RREDQSLRLN A

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-9.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Mammary gland, Placenta, Testis and Uterus.
[3]	"The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13." Twells R.C.J., Metzker M.L., Brown S.D., Cox R., Garey C., Hammond H., Hey P.J., Levy E., Nakagawa Y., Philips M.S., Todd J.A., Hess J.F. Genomics 72:231-242(2001) [PubMed: 11401438] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-275 (ISOFORM 1).
[4]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-885 (ISOFORM 2).
[5]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 442-884. Tissue: Colon.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 592-885. Tissue: Testis.
[7]	"Loss of DNA methylation and histone H4 lysine 20 trimethylation in human breast cancer cells is associated with aberrant expression of DNA methyltransferase 1, Suv4-20h2 histone methyltransferase and methyl-binding proteins." Tryndyak V.P., Kovalchuk O., Pogribny I.P. Cancer Biol. Ther. 5:65-70(2006) [PubMed: 16322686] [Abstract] Cited for: INDUCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AP002992 Genomic DNA. No translation available. BC002522 mRNA. Translation: AAH02522.2. BC012933 mRNA. Translation: AAH12933.1. Different initiation. BC065287 mRNA. Translation: AAH65287.1. BC087834 mRNA. Translation: AAH87834.1. BC098121 mRNA. Translation: AAH98121.1. BC099714 mRNA. Translation: AAH99714.1. BC103498 mRNA. Translation: AAI03499.1. BC104483 mRNA. Translation: AAI04484.1. Frameshift. AF264782 mRNA. Translation: AAG36937.1. Frameshift. AF151843 mRNA. Translation: AAD34080.1. Different initiation. AK000046 mRNA. Translation: BAA90905.1. Different initiation. AL512763 mRNA. Translation: CAC21680.1.
IPI	IPI00329708. IPI00455177. IPI00844368.
RefSeq	NP_057112.3. NP_060105.3.
UniGene	Hs.632120
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q4FZB7. 2 interactions.
PTM databases
PhosphoSite	Q4FZB7.
Genome annotation databases
Ensembl	ENSG00000110066. Homo sapiens. [Contig view]
GeneID	51111.
KEGG	hsa:51111.
UCSC	uc001onm.1. human. uc001onn.1. human. uc001ono.1. human.
Organism-specific databases
GeneCards	GC11M067680.
HGNC	HGNC:24283. SUV420H1.
MIM	610881. gene.
PharmGKB	PA134958369.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q4FZB7.
OMA	Q4FZB7. RRREDQS.
Enzyme and pathway databases
BRENDA	2.1.1.43. 247.
Gene expression databases
ArrayExpress	Q4FZB7.
Bgee	Q4FZB7.
Family and domain databases
InterPro	IPR001214. SET. [Graphical view]
Pfam	PF00856. SET. 1 hit. [Graphical view]
SMART	SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS50280. SET. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	53865.
SOURCE	Search...

Entry information

Entry name

SUV41_HUMAN

Accession

Primary (citable) accession number: Q4FZB7
Secondary accession number(s): Q3SX56 , Q4V775, Q6P150, Q96E44, Q9BUL0, Q9H022, Q9H2K3, Q9NXV3, Q9Y393

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	November 25, 2008
Last modified:	July 7, 2009
This is version 40 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)