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Protein

Histone-lysine N-methyltransferase setd3

Gene

SETD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Histone methyltransferase that methylates 'Lys-4' and 'Lys-36' of histone H3 (H3K4me and H3K36me). Acts as a transcriptional activator. Plays an important role in the transcriptional regulation of muscle cell differentiation via interaction with MYOD1.By similarity

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BioCyciZFISH:G66-32835-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase setd3 (EC:2.1.1.43By similarity)
Alternative name(s):
SET domain-containing protein 3
Gene namesi
Name:SETD3
Synonyms:C14orf154
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20493. SETD3.

Subcellular locationi

  • Nucleus By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84193.
OpenTargetsiENSG00000183576.
PharmGKBiPA134883013.

Polymorphism and mutation databases

BioMutaiSETD3.
DMDMi74750394.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541751 – 594Histone-lysine N-methyltransferase setd3Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei513PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86TU7.
MaxQBiQ86TU7.
PaxDbiQ86TU7.
PeptideAtlasiQ86TU7.
PRIDEiQ86TU7.

PTM databases

iPTMnetiQ86TU7.
PhosphoSitePlusiQ86TU7.

Expressioni

Gene expression databases

BgeeiENSG00000183576.
CleanExiHS_SETD3.
ExpressionAtlasiQ86TU7. baseline and differential.
GenevisibleiQ86TU7. HS.

Organism-specific databases

HPAiHPA003591.
HPA003639.

Interactioni

Subunit structurei

Interacts with MYOD1.By similarity

Protein-protein interaction databases

BioGridi123940. 17 interactors.
IntActiQ86TU7. 2 interactors.
STRINGi9606.ENSP00000327436.

Structurei

Secondary structure

1594
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi22 – 35Combined sources14
Helixi46 – 62Combined sources17
Helixi75 – 78Combined sources4
Helixi79 – 88Combined sources10
Beta strandi96 – 101Combined sources6
Turni102 – 104Combined sources3
Beta strandi105 – 112Combined sources8
Beta strandi119 – 124Combined sources6
Helixi125 – 127Combined sources3
Helixi131 – 135Combined sources5
Helixi140 – 145Combined sources6
Helixi147 – 151Combined sources5
Helixi153 – 165Combined sources13
Helixi173 – 176Combined sources4
Helixi186 – 188Combined sources3
Helixi191 – 195Combined sources5
Beta strandi198 – 201Combined sources4
Helixi202 – 223Combined sources22
Turni234 – 237Combined sources4
Helixi241 – 254Combined sources14
Beta strandi256 – 259Combined sources4
Beta strandi263 – 270Combined sources8
Helixi274 – 276Combined sources3
Beta strandi283 – 289Combined sources7
Turni290 – 293Combined sources4
Beta strandi294 – 301Combined sources8
Beta strandi308 – 311Combined sources4
Helixi318 – 325Combined sources8
Beta strandi336 – 342Combined sources7
Helixi350 – 359Combined sources10
Beta strandi364 – 375Combined sources12
Helixi379 – 388Combined sources10
Helixi392 – 400Combined sources9
Beta strandi403 – 405Combined sources3
Turni407 – 412Combined sources6
Helixi420 – 439Combined sources20
Helixi445 – 451Combined sources7
Helixi459 – 490Combined sources32

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SMTX-ray2.04A2-498[»]
ProteinModelPortaliQ86TU7.
SMRiQ86TU7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 314SETPROSITE-ProRule annotationAdd BLAST221

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD3 subfamily.PROSITE-ProRule annotation
Contains 1 SET domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1337. Eukaryota.
ENOG410Y7DR. LUCA.
GeneTreeiENSGT00850000132334.
HOGENOMiHOG000041319.
HOVERGENiHBG062823.
InParanoidiQ86TU7.
KOiK19199.
OMAiNGTRSEN.
OrthoDBiEOG091G087D.
PhylomeDBiQ86TU7.
TreeFamiTF354226.

Family and domain databases

Gene3Di3.90.1420.10. 1 hit.
InterProiIPR025785. Hist-Lys_N-MeTrfase_SETD3.
IPR015353. Rubisco_LSMT_subst-bd.
IPR001214. SET_dom.
[Graphical view]
PfamiPF09273. Rubis-subs-bind. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SUPFAMiSSF81822. SSF81822. 1 hit.
PROSITEiPS51565. SAM_MT43_SETD3. 1 hit.
PS50280. SET. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86TU7-1) [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
MGKKSRVKTQ KSGTGATATV SPKEILNLTS ELLQKCSSPA PGPGKEWEEY
60 70 80 90 100
VQIRTLVEKI RKKQKGLSVT FDGKREDYFP DLMKWASENG ASVEGFEMVN
110 120 130 140 150
FKEEGFGLRA TRDIKAEELF LWVPRKLLMT VESAKNSVLG PLYSQDRILQ
160 170 180 190 200
AMGNIALAFH LLCERASPNS FWQPYIQTLP SEYDTPLYFE EDEVRYLQST
210 220 230 240 250
QAIHDVFSQY KNTARQYAYF YKVIQTHPHA NKLPLKDSFT YEDYRWAVSS
260 270 280 290 300
VMTRQNQIPT EDGSRVTLAL IPLWDMCNHT NGLITTGYNL EDDRCECVAL
310 320 330 340 350
QDFRAGEQIY IFYGTRSNAE FVIHSGFFFD NNSHDRVKIK LGVSKSDRLY
360 370 380 390 400
AMKAEVLARA GIPTSSVFAL HFTEPPISAQ LLAFLRVFCM TEEELKEHLL
410 420 430 440 450
GDSAIDRIFT LGNSEFPVSW DNEVKLWTFL EDRASLLLKT YKTTIEEDKS
460 470 480 490 500
VLKNHDLSVR AKMAIKLRLG EKEILEKAVK SAAVNREYYR QQMEEKAPLP
510 520 530 540 550
KYEESNLGLL ESSVGDSRLP LVLRNLEEEA GVQDALNIRE AISKAKATEN
560 570 580 590
GLVNGENSIP NGTRSENESL NQESKRAVED AKGSSSDSTA GVKE
Length:594
Mass (Da):67,257
Last modified:June 1, 2003 - v1
Checksum:iDF27C8B133A19E16
GO
Isoform 2 (identifier: Q86TU7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-296: ITTGYNLEDDRCE → TPEDSFALAVASA
     297-594: Missing.

Show »
Length:296
Mass (Da):33,701
Checksum:iB853D7B95F23F98B
GO
Isoform 3 (identifier: Q86TU7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-284: I → V
     285-594: Missing.

Show »
Length:284
Mass (Da):32,540
Checksum:iCAF5DC1F9A724072
GO

Sequence cautioni

The sequence BAB15525 differs from that shown. Reason: Frameshift at positions 486 and 495.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti415E → K in AAI42996 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028830278N → D.Corresponds to variant rs1740231dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021190284 – 296ITTGY…DDRCE → TPEDSFALAVASA in isoform 2. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_021191284I → V in isoform 3. 1 Publication1
Alternative sequenceiVSP_021192285 – 594Missing in isoform 3. 1 PublicationAdd BLAST310
Alternative sequenceiVSP_021193297 – 594Missing in isoform 2. 2 PublicationsAdd BLAST298

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161441 mRNA. Translation: CAD61911.1.
BX161471 mRNA. Translation: CAD61927.1.
AK026680 mRNA. Translation: BAB15525.1. Frameshift.
AK302882 mRNA. Translation: BAG64060.1.
AL110504 Genomic DNA. No translation available.
AL132819 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81664.1.
CH471061 Genomic DNA. Translation: EAW81665.1.
BC009054 mRNA. Translation: AAH09054.2.
BC120967 mRNA. Translation: AAI20968.1.
BC120968 mRNA. Translation: AAI20969.1.
BC127624 mRNA. Translation: AAI27625.1.
BC127625 mRNA. Translation: AAI27626.1.
BC142995 mRNA. Translation: AAI42996.1.
BC148251 mRNA. Translation: AAI48252.1.
AL359581 mRNA. Translation: CAH56365.1.
CCDSiCCDS9951.1. [Q86TU7-1]
CCDS9952.1. [Q86TU7-2]
PIRiT50614.
RefSeqiNP_115609.2. NM_032233.2. [Q86TU7-1]
NP_954574.1. NM_199123.1. [Q86TU7-2]
XP_011535533.2. XM_011537231.2. [Q86TU7-1]
XP_011535534.1. XM_011537232.2. [Q86TU7-1]
XP_011535537.1. XM_011537235.1. [Q86TU7-2]
XP_016877188.1. XM_017021699.1. [Q86TU7-1]
XP_016877189.1. XM_017021700.1. [Q86TU7-1]
UniGeneiHs.510407.

Genome annotation databases

EnsembliENST00000329331; ENSP00000327910; ENSG00000183576. [Q86TU7-2]
ENST00000331768; ENSP00000327436; ENSG00000183576. [Q86TU7-1]
GeneIDi84193.
KEGGihsa:84193.
UCSCiuc001ygc.4. human. [Q86TU7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161441 mRNA. Translation: CAD61911.1.
BX161471 mRNA. Translation: CAD61927.1.
AK026680 mRNA. Translation: BAB15525.1. Frameshift.
AK302882 mRNA. Translation: BAG64060.1.
AL110504 Genomic DNA. No translation available.
AL132819 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81664.1.
CH471061 Genomic DNA. Translation: EAW81665.1.
BC009054 mRNA. Translation: AAH09054.2.
BC120967 mRNA. Translation: AAI20968.1.
BC120968 mRNA. Translation: AAI20969.1.
BC127624 mRNA. Translation: AAI27625.1.
BC127625 mRNA. Translation: AAI27626.1.
BC142995 mRNA. Translation: AAI42996.1.
BC148251 mRNA. Translation: AAI48252.1.
AL359581 mRNA. Translation: CAH56365.1.
CCDSiCCDS9951.1. [Q86TU7-1]
CCDS9952.1. [Q86TU7-2]
PIRiT50614.
RefSeqiNP_115609.2. NM_032233.2. [Q86TU7-1]
NP_954574.1. NM_199123.1. [Q86TU7-2]
XP_011535533.2. XM_011537231.2. [Q86TU7-1]
XP_011535534.1. XM_011537232.2. [Q86TU7-1]
XP_011535537.1. XM_011537235.1. [Q86TU7-2]
XP_016877188.1. XM_017021699.1. [Q86TU7-1]
XP_016877189.1. XM_017021700.1. [Q86TU7-1]
UniGeneiHs.510407.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3SMTX-ray2.04A2-498[»]
ProteinModelPortaliQ86TU7.
SMRiQ86TU7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123940. 17 interactors.
IntActiQ86TU7. 2 interactors.
STRINGi9606.ENSP00000327436.

PTM databases

iPTMnetiQ86TU7.
PhosphoSitePlusiQ86TU7.

Polymorphism and mutation databases

BioMutaiSETD3.
DMDMi74750394.

Proteomic databases

EPDiQ86TU7.
MaxQBiQ86TU7.
PaxDbiQ86TU7.
PeptideAtlasiQ86TU7.
PRIDEiQ86TU7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329331; ENSP00000327910; ENSG00000183576. [Q86TU7-2]
ENST00000331768; ENSP00000327436; ENSG00000183576. [Q86TU7-1]
GeneIDi84193.
KEGGihsa:84193.
UCSCiuc001ygc.4. human. [Q86TU7-1]

Organism-specific databases

CTDi84193.
DisGeNETi84193.
GeneCardsiSETD3.
HGNCiHGNC:20493. SETD3.
HPAiHPA003591.
HPA003639.
MIMi615671. gene.
neXtProtiNX_Q86TU7.
OpenTargetsiENSG00000183576.
PharmGKBiPA134883013.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1337. Eukaryota.
ENOG410Y7DR. LUCA.
GeneTreeiENSGT00850000132334.
HOGENOMiHOG000041319.
HOVERGENiHBG062823.
InParanoidiQ86TU7.
KOiK19199.
OMAiNGTRSEN.
OrthoDBiEOG091G087D.
PhylomeDBiQ86TU7.
TreeFamiTF354226.

Enzyme and pathway databases

BioCyciZFISH:G66-32835-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.

Miscellaneous databases

ChiTaRSiSETD3. human.
GenomeRNAii84193.
PROiQ86TU7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183576.
CleanExiHS_SETD3.
ExpressionAtlasiQ86TU7. baseline and differential.
GenevisibleiQ86TU7. HS.

Family and domain databases

Gene3Di3.90.1420.10. 1 hit.
InterProiIPR025785. Hist-Lys_N-MeTrfase_SETD3.
IPR015353. Rubisco_LSMT_subst-bd.
IPR001214. SET_dom.
[Graphical view]
PfamiPF09273. Rubis-subs-bind. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SUPFAMiSSF81822. SSF81822. 1 hit.
PROSITEiPS51565. SAM_MT43_SETD3. 1 hit.
PS50280. SET. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSETD3_HUMAN
AccessioniPrimary (citable) accession number: Q86TU7
Secondary accession number(s): A0PJU3
, A5PLP0, B4DZE8, Q0VAQ2, Q659C0, Q86TU8, Q96GY9, Q9H5U5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: June 1, 2003
Last modified: November 2, 2016
This is version 119 of the entry and version 1 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.