Reviewed, UniProtKB/Swiss-Prot Q96T68 (SETB2_HUMAN)

Names and origin

Protein names

Recommended name:
    Histone-lysine N-methyltransferase SETDB2
    EC=2.1.1.43
Alternative name(s):
    SET domain bifurcated 2
    Chronic lymphocytic leukemia deletion region gene 8 protein
    Lysine N-methyltransferase 1F

Gene names

Name:	SETDB2
Synonyms:	C13orf4, CLLD8, KMT1F

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

General annotation (Comments)

Function	Probable histone methyltransferase By similarity.
Catalytic activity	S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.
Subcellular location	Nucleus By similarity.
Tissue specificity	Ubiquitous. Highest expression in heart, testis and ovary.
Sequence similarities	Belongs to the histone-lysine methyltransferase family. Contains 1 MBD (methyl-CpG-binding) domain. Contains 1 pre-SET domain. Contains 1 SET domain.
Sequence caution	The sequence CAI10818.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	S-adenosyl-L-methionine
Molecular function	Chromatin regulator Methyltransferase Transferase
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q96T68-1)

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: Q96T68-2)

The sequence of this isoform differs from the canonical sequence as follows:
     70-81: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96T68-3)

The sequence of this isoform differs from the canonical sequence as follows:
     523-523: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 719	719	Histone-lysine N-methyltransferase SETDB2		PRO_0000186088
Regions
	Domain	157 – 229	73	MBD
	Domain	291 – 364	74	Pre-SET
	Domain	366 – 698	333	SET
Natural variations
	Alternative sequence	70 – 81	12	Missing in isoform 2.		VSP_008413
	Alternative sequence	523	1	Missing in isoform 3.		VSP_024034
	Natural variant	117	1	E → G: dbSNP rs7998427. Ref.1 Ref.5		VAR_031282
	Natural variant	473	1	V → M: dbSNP rs2057413. Ref.5 Ref.3 Ref.4		VAR_016976

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: 01CD2CFE5C1D9067	FASTA	719	81,894
	10 20 30 40 50 60 MGEKNGDAKT FWMELEDDGK VDFIFEQVQN VLQSLKQKIK DGSATNKEYI QAMILVNEAT 70 80 90 100 110 120 IINSSTSIKG ASQKEVNAQS SDPMPVTQKE QENKSNAFPS TSCENSFPED CTFLTTENKE 130 140 150 160 170 180 ILSLEDKVVD FREKDSSSNL SYQSHDCSGA CLMKMPLNLK GENPLQLPIK CHFQRRHAKT 190 200 210 220 230 240 NSHSSALHVS YKTPCGRSLR NVEEVFRYLL ETECNFLFTD NFSFNTYVQL ARNYPKQKEV 250 260 270 280 290 300 VSDVDISNGV ESVPISFCNE IDSRKLPQFK YRKTVWPRAY NLTNFSSMFT DSCDCSEGCI 310 320 330 340 350 360 DITKCACLQL TARNAKTSPL SSDKITTGYK YKRLQRQIPT GIYECSLLCK CNRQLCQNRV 370 380 390 400 410 420 VQHGPQVRLQ VFKTEQKGWG VRCLDDIDRG TFVCIYSGRL LSRANTEKSY GIDENGRDEN 430 440 450 460 470 480 TMKNIFSKKR KLEVACSDCE VEVLPLGLET HPRTAKTEKC PPKFSNNPKE LTVETKYDNI 490 500 510 520 530 540 SRIQYHSVIR DPESKTAIFQ HNGKKMEFVS SESVTPEDND GFKPPREHLN SKTKGAQKDS 550 560 570 580 590 600 SSNHVDEFED NLLIESDVID ITKYREETPP RSRCNQATTL DNQNIKKAIE VQIQKPQEGR 610 620 630 640 650 660 STACQRQQVF CDEELLSETK NTSSDSLTKF NKGNVFLLDA TKEGNVGRFL NHSCCPNLLV 670 680 690 700 710 QNVFVETHNR NFPLVAFFTN RYVKARTELT WDYGYEAGTV PEKEIFCQCG VNKCRKKIL
	Isoform 2. Checksum: 631679B2687F6FBD	FASTA	707	80,707
	10 20 30 40 50 60 MGEKNGDAKT FWMELEDDGK VDFIFEQVQN VLQSLKQKIK DGSATNKEYI QAMILVNEAT 70 80 90 100 110 120 IINSSTSIKD PMPVTQKEQE NKSNAFPSTS CENSFPEDCT FLTTENKEIL SLEDKVVDFR 130 140 150 160 170 180 EKDSSSNLSY QSHDCSGACL MKMPLNLKGE NPLQLPIKCH FQRRHAKTNS HSSALHVSYK 190 200 210 220 230 240 TPCGRSLRNV EEVFRYLLET ECNFLFTDNF SFNTYVQLAR NYPKQKEVVS DVDISNGVES 250 260 270 280 290 300 VPISFCNEID SRKLPQFKYR KTVWPRAYNL TNFSSMFTDS CDCSEGCIDI TKCACLQLTA 310 320 330 340 350 360 RNAKTSPLSS DKITTGYKYK RLQRQIPTGI YECSLLCKCN RQLCQNRVVQ HGPQVRLQVF 370 380 390 400 410 420 KTEQKGWGVR CLDDIDRGTF VCIYSGRLLS RANTEKSYGI DENGRDENTM KNIFSKKRKL 430 440 450 460 470 480 EVACSDCEVE VLPLGLETHP RTAKTEKCPP KFSNNPKELT VETKYDNISR IQYHSVIRDP 490 500 510 520 530 540 ESKTAIFQHN GKKMEFVSSE SVTPEDNDGF KPPREHLNSK TKGAQKDSSS NHVDEFEDNL 550 560 570 580 590 600 LIESDVIDIT KYREETPPRS RCNQATTLDN QNIKKAIEVQ IQKPQEGRST ACQRQQVFCD 610 620 630 640 650 660 EELLSETKNT SSDSLTKFNK GNVFLLDATK EGNVGRFLNH SCCPNLLVQN VFVETHNRNF 670 680 690 700 PLVAFFTNRY VKARTELTWD YGYEAGTVPE KEIFCQCGVN KCRKKIL
	Isoform 3. Checksum: FCBD4B8D5A1A3506	FASTA	718	81,766
	10 20 30 40 50 60 MGEKNGDAKT FWMELEDDGK VDFIFEQVQN VLQSLKQKIK DGSATNKEYI QAMILVNEAT 70 80 90 100 110 120 IINSSTSIKG ASQKEVNAQS SDPMPVTQKE QENKSNAFPS TSCENSFPED CTFLTTENKE 130 140 150 160 170 180 ILSLEDKVVD FREKDSSSNL SYQSHDCSGA CLMKMPLNLK GENPLQLPIK CHFQRRHAKT 190 200 210 220 230 240 NSHSSALHVS YKTPCGRSLR NVEEVFRYLL ETECNFLFTD NFSFNTYVQL ARNYPKQKEV 250 260 270 280 290 300 VSDVDISNGV ESVPISFCNE IDSRKLPQFK YRKTVWPRAY NLTNFSSMFT DSCDCSEGCI 310 320 330 340 350 360 DITKCACLQL TARNAKTSPL SSDKITTGYK YKRLQRQIPT GIYECSLLCK CNRQLCQNRV 370 380 390 400 410 420 VQHGPQVRLQ VFKTEQKGWG VRCLDDIDRG TFVCIYSGRL LSRANTEKSY GIDENGRDEN 430 440 450 460 470 480 TMKNIFSKKR KLEVACSDCE VEVLPLGLET HPRTAKTEKC PPKFSNNPKE LTVETKYDNI 490 500 510 520 530 540 SRIQYHSVIR DPESKTAIFQ HNGKKMEFVS SESVTPEDND GFPPREHLNS KTKGAQKDSS 550 560 570 580 590 600 SNHVDEFEDN LLIESDVIDI TKYREETPPR SRCNQATTLD NQNIKKAIEV QIQKPQEGRS 610 620 630 640 650 660 TACQRQQVFC DEELLSETKN TSSDSLTKFN KGNVFLLDAT KEGNVGRFLN HSCCPNLLVQ 670 680 690 700 710 NVFVETHNRN FPLVAFFTNR YVKARTELTW DYGYEAGTVP EKEIFCQCGV NKCRKKIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia." Mabuchi H., Fujii H., Calin G., Alder H., Negrini M., Rassenti L., Kipps T.J., Bullrich F., Croce C.M. Cancer Res. 61:2870-2877(2001) [PubMed: 11306461] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-117.
[2]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 2), VARIANT MET-473. Tissue: Colon and Testis.
[4]	"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 332-719 (ISOFORM 3), VARIANT MET-473. Tissue: Amygdala.
[5]	"Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma." Zhang Y., Leaves N.I., Anderson G.G., Ponting C.P., Broxholme J., Holt R., Edser P., Bhattacharyya S., Dunham A., Adcock I.M., Pulleyn L., Barnes P.J., Harper J.I., Abecasis G., Cardon L., White M., Burton J., Matthews L. , Mott R., Ross M., Cox R., Moffatt M.F., Cookson W.O.C.M. Nat. Genet. 34:181-186(2003) [PubMed: 12754510] [Abstract] Cited for: VARIANTS GLY-117 AND MET-473.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF334407 mRNA. Translation: AAK38373.1. AL139321, AL136218 Genomic DNA. Translation: CAH71048.1. AL136218, AL139321 Genomic DNA. Translation: CAI10817.1. AL136218 Genomic DNA. Translation: CAI10818.2. Sequence problems. BC017078 mRNA. Translation: AAH17078.1. BC047434 mRNA. Translation: AAH47434.1. AL831937 mRNA. Translation: CAH56265.1. Different termination.
IPI	IPI00045922. IPI00375872. IPI00843770.
RefSeq	NP_114121.1.
UniGene	Hs.631789
3D structure databases
HSSP	HSSP built from PDB template 1ML9 based on UniProtKB Q8X225.
ModBase	Search...
PTM databases
PhosphoSite	Q96T68.
Genome annotation databases
Ensembl	ENSG00000136169. Homo sapiens. [Contig view]
GeneID	83852.
KEGG	hsa:83852.
Organism-specific databases
GeneCards	GC13P048916.
HGNC	HGNC:20263. SETDB2.
HPA	CAB012190.
MIM	607865. gene.
PharmGKB	PA134956285.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96T68.
OMA	Q96T68. ESDVIDI.
Enzyme and pathway databases
BRENDA	2.1.1.43. 247.
Gene expression databases
ArrayExpress	Q96T68.
Bgee	Q96T68.
CleanEx	HS_SETDB2.
GermOnline	ENSG00000136169. Homo sapiens.
Family and domain databases
InterPro	IPR001739. Methyl_CpG_DNA-bd. IPR007728. Pre-SET_Zn_bd. IPR001214. SET. [Graphical view]
Pfam	PF01429. MBD. 1 hit. PF05033. Pre-SET. 1 hit. PF00856. SET. 1 hit. [Graphical view]
SMART	SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS50982. MBD. 1 hit. PS50867. PRE_SET. 1 hit. PS50280. SET. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	72831.
SOURCE	Search...

Entry information

Entry name

SETB2_HUMAN

Accession

Primary (citable) accession number: Q96T68
Secondary accession number(s): Q5TC65 , Q5TC66, Q5W0A7, Q659A7, Q86UD6, Q96AI6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2003
Last sequence update:	April 3, 2007
Last modified:	June 16, 2009
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)