Q4FZB7 (SV421_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Histone-lysine N-methyltransferase SUV420H1
EC=2.1.1.43

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

Gene names

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

Organism

Homo sapiens (Human)

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.
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 + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Subunit structure	Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 By similarity.
Subcellular location	Nucleus. Chromosome By similarity. 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 AAD34080.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAG36937.1 differs from that shown. Reason: Frameshift at positions 233, 249, 254 and 272. The sequence AAH98121.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame. The sequence AAI04484.1 differs from that shown. Reason: Frameshift at position 396. The sequence BAA90905.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Chromosome Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	S-adenosyl-L-methionine
Molecular function	Chromatin regulator Methyltransferase Repressor Transferase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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: Q4FZB7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     274-274: D → DLINS
     275-885: 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

274

1

D → DLINS in isoform 3.

VSP_040034

Alternative sequence

275 – 885

611

Missing in isoform 3.

VSP_040035

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. Ref.2
Corresponds to variant rs2512606 [ dbSNP | Ensembl ].

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

Secondary structure

1

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885

Helix Strand Turn

Details...

Helix

74 – 92

19

Helix

134 – 147

14

Helix

150 – 157

8

Helix

162 – 167

6

Helix

172 – 187

16

Beta strand

196 – 198

3

Beta strand

211 – 216

6

Beta strand

231 – 234

4

Helix

236 – 242

7

Beta strand

252 – 255

4

Turn

256 – 259

4

Beta strand

260 – 264

5

Helix

268 – 270

3

Beta strand

278 – 283

6

Beta strand

289 – 295

7

Turn

315 – 318

4

Helix

322 – 326

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 3, 2011. Version 4. 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 [UniParc]. 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 [UniParc]. Checksum: 12C45DFB622AA8AC	FASTA	278	31,959
	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 MLLRHGENDF SVMYSTRKNC AQLWLGPAAF INHDLINS

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].
[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), VARIANT ASN-9. 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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder 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

EMBL
GenBank
DDBJ

AP002992 Genomic DNA. No translation available.
BC002522 mRNA. Translation: AAH02522.2.
BC012933 mRNA. Translation: AAH12933.2.
BC065287 mRNA. Translation: AAH65287.1.
BC087834 mRNA. Translation: AAH87834.1.
BC098121 mRNA. Translation: AAH98121.1. Sequence problems.
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.
IPI00879841.

RefSeq

NP_057112.3. NM_016028.4.
NP_060105.3. NM_017635.3.

UniGene

Hs.632120.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3S8P	X-ray	1.85	A/B	63-335	[»]

ProteinModelPortal

Q4FZB7.

SMR

Q4FZB7. Positions 71-333.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-48656N.

IntAct

Q4FZB7. 3 interactions.

STRING

Q4FZB7.

PTM databases

PhosphoSite

Q4FZB7.

Polymorphism databases

DMDM

311033531.

Proteomic databases

PRIDE

Q4FZB7.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000304363; ENSP00000305899; ENSG00000110066.

GeneID

51111.

KEGG

hsa:51111.

UCSC

uc001onm.1. human.
uc001onn.1. human.
uc001ono.1. human.

Organism-specific databases

CTD

51111.

GeneCards

GC11M067922.

HGNC

HGNC:24283. SUV420H1.

HPA

HPA046139.

MIM

610881. gene.

neXtProt

NX_Q4FZB7.

PharmGKB

PA134958369.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG05140.

GeneTree

ENSGT00520000055640.

HOVERGEN

HBG105761.

InParanoid

Q4FZB7.

OMA

RRREDQS.

OrthoDB

EOG4GHZNN.

PhylomeDB

Q4FZB7.

Gene expression databases

ArrayExpress

Q4FZB7.

Bgee

Q4FZB7.

Genevestigator

Q4FZB7.

Family and domain databases

InterPro

IPR001214. SET_dom.
[Graphical view]

KO

K11429.

Pfam

PF00856. SET. 1 hit.
[Graphical view]

SMART

SM00317. SET. 1 hit.
[Graphical view]

PROSITE

PS50280. SET. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

53865.

SOURCE

Search...

Entry information

Entry name

SV421_HUMAN

Accession

Primary (citable) accession number: Q4FZB7
Secondary accession number(s): B7WNX7 , Q3SX56, Q4V775, Q6P150, Q96E44, Q9BUL0, Q9H022, Q9H2K3, Q9NXV3, Q9Y393

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	May 3, 2011
Last modified:	January 25, 2012
This is version 69 of the entry and version 4 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.