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Protein

N-lysine methyltransferase SETD6

Gene

SETD6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates 'Lys-8' of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity).By similarity2 Publications

GO - Molecular functioni

  • NF-kappaB binding Source: UniProtKB
  • protein-lysine N-methyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines

Names & Taxonomyi

Protein namesi
Recommended name:
N-lysine methyltransferase SETD6 (EC:2.1.1.-)
Alternative name(s):
SET domain-containing protein 6
Gene namesi
Name:SETD6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103037.11
HGNCiHGNC:26116 SETD6
MIMi616424 gene
neXtProtiNX_Q8TBK2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi285Y → A: Abolishes methyltransferase activity. 1 Publication1

Organism-specific databases

DisGeNETi79918
OpenTargetsiENSG00000103037
PharmGKBiPA143485614

Polymorphism and mutation databases

BioMutaiSETD6
DMDMi308153495

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002818891 – 473N-lysine methyltransferase SETD6Add BLAST473

Proteomic databases

EPDiQ8TBK2
MaxQBiQ8TBK2
PaxDbiQ8TBK2
PeptideAtlasiQ8TBK2
PRIDEiQ8TBK2
ProteomicsDBi74022
74023 [Q8TBK2-2]

PTM databases

iPTMnetiQ8TBK2
PhosphoSitePlusiQ8TBK2

Expressioni

Gene expression databases

BgeeiENSG00000103037 Expressed in 216 organ(s), highest expression level in secondary oocyte
CleanExiHS_SETD6
ExpressionAtlasiQ8TBK2 baseline and differential
GenevisibleiQ8TBK2 HS

Organism-specific databases

HPAiHPA041481
HPA053546

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RelaQ042074EBI-3863032,EBI-644400From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122996, 2 interactors
IntActiQ8TBK2, 4 interactors
STRINGi9606.ENSP00000219315

Chemistry databases

BindingDBiQ8TBK2

Structurei

Secondary structure

1473
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8TBK2
SMRiQ8TBK2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 286SETPROSITE-ProRule annotationAdd BLAST227

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1338 Eukaryota
ENOG410ZN0H LUCA
GeneTreeiENSGT00910000144298
HOGENOMiHOG000264234
HOVERGENiHBG108475
InParanoidiQ8TBK2
KOiK05302
OMAiTCSIGGL
OrthoDBiEOG091G068E
PhylomeDBiQ8TBK2
TreeFamiTF106399

Family and domain databases

Gene3Di3.90.1420.10, 1 hit
InterProiView protein in InterPro
IPR011383 N-lys_methylase_SETD6
IPR015353 Rubisco_LSMT_subst-bd
IPR036464 Rubisco_LSMT_subst-bd_sf
IPR001214 SET_dom
PfamiView protein in Pfam
PF09273 Rubis-subs-bind, 1 hit
PF00856 SET, 1 hit
PIRSFiPIRSF011771 RMS1_SET, 1 hit
SUPFAMiSSF81822 SSF81822, 1 hit
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TBK2-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MATQAKRPRV AGPVDGGDLD PVACFLSWCR RVGLELSPKV SERAGGRRTR
60 70 80 90 100
GGARAALTSP PAQVAVSRQG TVAGYGMVAR ESVQAGELLF VVPRAALLSQ
110 120 130 140 150
HTCSIGGLLE RERVALQSQS GWVPLLLALL HELQAPASRW RPYFALWPEL
160 170 180 190 200
GRLEHPMFWP EEERRCLLQG TGVPEAVEKD LANIRSEYQS IVLPFMEAHP
210 220 230 240 250
DLFSLRVRSL ELYHQLVALV MAYSFQEPLE EEEDEKEPNS PVMVPAADIL
260 270 280 290 300
NHLANHNANL EYSANCLRMV ATQPIPKGHE IFNTYGQMAN WQLIHMYGFV
310 320 330 340 350
EPYPDNTDDT ADIQMVTVRE AALQGTKTEA ERHLVYERWD FLCKLEMVGE
360 370 380 390 400
EGAFVIGREE VLTEEELTTT LKVLCMPAEE FRELKDQDGG GDDKREEGSL
410 420 430 440 450
TITNIPKLKA SWRQLLQNSV LLTLQTYATD LKTDQGLLSN KEVYAKLSWR
460 470
EQQALQVRYG QKMILHQLLE LTS
Length:473
Mass (Da):53,189
Last modified:October 5, 2010 - v2
Checksum:i3BFC08F0FACEAACC
GO
Isoform 2 (identifier: Q8TBK2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-63: Missing.

Note: No experimental confirmation available.
Show »
Length:449
Mass (Da):50,784
Checksum:iB619F7F1CAEBB8DF
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QT10J3QT10_HUMAN
N-lysine methyltransferase SETD6
SETD6
404Annotation score:
H7C3N0H7C3N0_HUMAN
N-lysine methyltransferase SETD6
SETD6
263Annotation score:
C9JCR1C9JCR1_HUMAN
N-lysine methyltransferase SETD6
SETD6
183Annotation score:
E9PC53E9PC53_HUMAN
N-lysine methyltransferase SETD6
SETD6
262Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti102T → A in BAF83184 (PubMed:14702039).Curated1
Sequence conflicti118S → G in BAB15011 (PubMed:14702039).Curated1
Sequence conflicti227E → V in BAB15011 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064590185R → S1 PublicationCorresponds to variant dbSNP:rs17852020Ensembl.1
Natural variantiVAR_064591206R → G1 PublicationCorresponds to variant dbSNP:rs17852021Ensembl.1
Natural variantiVAR_064592340D → N. Corresponds to variant dbSNP:rs11865588Ensembl.1
Natural variantiVAR_064593426T → A. Corresponds to variant dbSNP:rs34965375Ensembl.1
Natural variantiVAR_064594445A → V. Corresponds to variant dbSNP:rs36085499Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02409340 – 63Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024801 mRNA Translation: BAB15011.1
AK290495 mRNA Translation: BAF83184.1
AC009118 Genomic DNA No translation available.
BC022451 mRNA Translation: AAH22451.1
CCDSiCCDS10798.1 [Q8TBK2-2]
CCDS54013.1 [Q8TBK2-1]
RefSeqiNP_001153777.1, NM_001160305.2 [Q8TBK2-1]
NP_079136.2, NM_024860.3 [Q8TBK2-2]
UniGeneiHs.731691

Genome annotation databases

EnsembliENST00000219315; ENSP00000219315; ENSG00000103037 [Q8TBK2-1]
ENST00000310682; ENSP00000310082; ENSG00000103037 [Q8TBK2-2]
GeneIDi79918
KEGGihsa:79918
UCSCiuc002enr.4 human [Q8TBK2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024801 mRNA Translation: BAB15011.1
AK290495 mRNA Translation: BAF83184.1
AC009118 Genomic DNA No translation available.
BC022451 mRNA Translation: AAH22451.1
CCDSiCCDS10798.1 [Q8TBK2-2]
CCDS54013.1 [Q8TBK2-1]
RefSeqiNP_001153777.1, NM_001160305.2 [Q8TBK2-1]
NP_079136.2, NM_024860.3 [Q8TBK2-2]
UniGeneiHs.731691

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QXYX-ray2.09A/B1-473[»]
3RC0X-ray2.19A/B1-473[»]
ProteinModelPortaliQ8TBK2
SMRiQ8TBK2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122996, 2 interactors
IntActiQ8TBK2, 4 interactors
STRINGi9606.ENSP00000219315

Chemistry databases

BindingDBiQ8TBK2

PTM databases

iPTMnetiQ8TBK2
PhosphoSitePlusiQ8TBK2

Polymorphism and mutation databases

BioMutaiSETD6
DMDMi308153495

Proteomic databases

EPDiQ8TBK2
MaxQBiQ8TBK2
PaxDbiQ8TBK2
PeptideAtlasiQ8TBK2
PRIDEiQ8TBK2
ProteomicsDBi74022
74023 [Q8TBK2-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000219315; ENSP00000219315; ENSG00000103037 [Q8TBK2-1]
ENST00000310682; ENSP00000310082; ENSG00000103037 [Q8TBK2-2]
GeneIDi79918
KEGGihsa:79918
UCSCiuc002enr.4 human [Q8TBK2-1]

Organism-specific databases

CTDi79918
DisGeNETi79918
EuPathDBiHostDB:ENSG00000103037.11
GeneCardsiSETD6
H-InvDBiHIX0013092
HGNCiHGNC:26116 SETD6
HPAiHPA041481
HPA053546
MIMi616424 gene
neXtProtiNX_Q8TBK2
OpenTargetsiENSG00000103037
PharmGKBiPA143485614
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1338 Eukaryota
ENOG410ZN0H LUCA
GeneTreeiENSGT00910000144298
HOGENOMiHOG000264234
HOVERGENiHBG108475
InParanoidiQ8TBK2
KOiK05302
OMAiTCSIGGL
OrthoDBiEOG091G068E
PhylomeDBiQ8TBK2
TreeFamiTF106399

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines

Miscellaneous databases

ChiTaRSiSETD6 human
GenomeRNAii79918
PROiPR:Q8TBK2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103037 Expressed in 216 organ(s), highest expression level in secondary oocyte
CleanExiHS_SETD6
ExpressionAtlasiQ8TBK2 baseline and differential
GenevisibleiQ8TBK2 HS

Family and domain databases

Gene3Di3.90.1420.10, 1 hit
InterProiView protein in InterPro
IPR011383 N-lys_methylase_SETD6
IPR015353 Rubisco_LSMT_subst-bd
IPR036464 Rubisco_LSMT_subst-bd_sf
IPR001214 SET_dom
PfamiView protein in Pfam
PF09273 Rubis-subs-bind, 1 hit
PF00856 SET, 1 hit
PIRSFiPIRSF011771 RMS1_SET, 1 hit
SUPFAMiSSF81822 SSF81822, 1 hit
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSETD6_HUMAN
AccessioniPrimary (citable) accession number: Q8TBK2
Secondary accession number(s): A8K380, B5ME38, Q9H787
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 5, 2010
Last modified: November 7, 2018
This is version 124 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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