UniProtKB - Q5XJV7 (SETD5_MOUSE)
Protein
Histone-lysine N-methyltransferase SETD5
Gene
Setd5
Organism
Mus musculus (Mouse)
Status
Functioni
Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission (PubMed:30455454, PubMed:31515109). May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics (PubMed:31515109). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (PubMed:22939622). The relevance of histone methyltransferase activity is however subject to discussion (PubMed:27864380, PubMed:30455454).4 Publications
Caution
According to a report, lacks histone methyltransferase activity and regulates chromatin by interacting with HDAC3 and PAF1 complex (PAF1C) complex (PubMed:30455454). According to another publication, displays histone methyltransferase activity and directly trimethylates 'Lys-36' of histone H3 (H3K36me3) (PubMed:31515109).2 Publications
Catalytic activityi
- L-lysyl9-[histone H3] + S-adenosyl-L-methionine = H+ + N6-methyl-L-lysyl9-[histone H3] + S-adenosyl-L-homocysteine1 PublicationEC:2.1.1.3671 Publication
- L-lysyl36-[histone H3] + 3 S-adenosyl-L-methionine = 3 H+ + N6,N6,N6-trimethyl-L-lysyl36-[histone H3] + 3 S-adenosyl-L-homocysteine1 PublicationEC:2.1.1.3591 PublicationThis reaction proceeds in the forward1 Publication direction.
GO - Molecular functioni
- histone methyltransferase activity (H3-K36 specific) Source: UniProtKB
- histone methyltransferase activity (H3-K9 specific) Source: UniProtKB
GO - Biological processi
- cognition Source: UniProtKB
- covalent chromatin modification Source: UniProtKB
- histone H3-K36 trimethylation Source: UniProtKB
- regulation of chromatin organization Source: UniProtKB
- regulation of DNA-templated transcription, elongation Source: UniProtKB
- regulation of histone acetylation Source: UniProtKB
- regulation of synapse assembly Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator, Methyltransferase, Transferase |
Biological process | Transcription, Transcription regulation |
Names & Taxonomyi
Protein namesi | |
Gene namesi | |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1920145, Setd5 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- Chromosome 1 Publication
Note: Localizes to active transcribed genes.1 Publication
Nucleus
- nuclear euchromatin Source: UniProtKB
- nucleoplasm Source: MGI
- nucleus Source: UniProtKB
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Disruption phenotypei
Mid-gestation lethality due to severe developmental delay such as vascular abnormalities in the embryo and placenta, reduced cellular proliferation and increased apoptosis (PubMed:27864380). Defects are probably due to a widespread impairment in the regulation of gene expression (PubMed:27864380). Setd5-haploinsufficient mice display altered neuronal network connectivity leading to autistic-like behaviors (PubMed:30655503, PubMed:30455454, PubMed:31515109). Haploinsufficient Setd5 cortical neurons show reduced synaptic density and neuritic outgrowtho, with corresponding decreases in network activity and synchrony by electrophysiology (PubMed:30655503). Haploinsufficient mice display several autism-like behaviors, including hyperactivity, cognitive deficit, and altered social interactions (PubMed:30455454, PubMed:31515109, PubMed:30655503).4 Publications
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000281906 | 1 – 1441 | Histone-lysine N-methyltransferase SETD5Add BLAST | 1441 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 72 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 829 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 852 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 855 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 1197 | PhosphoserineBy similarity | 1 | ||
Isoform 2 (identifier: Q5XJV7-2) | |||||
Modified residuei | 70 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 74 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q5XJV7 |
jPOSTi | Q5XJV7 |
PaxDbi | Q5XJV7 |
PeptideAtlasi | Q5XJV7 |
PRIDEi | Q5XJV7 |
PTM databases
iPTMneti | Q5XJV7 |
PhosphoSitePlusi | Q5XJV7 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000034269, Expressed in undifferentiated genital tubercle and 280 other tissues |
Genevisiblei | Q5XJV7, MM |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 215631, 6 interactors |
IntActi | Q5XJV7, 6 interactors |
STRINGi | 10090.ENSMUSP00000047398 |
Miscellaneous databases
RNActi | Q5XJV7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 269 – 390 | SETPROSITE-ProRule annotationAdd BLAST | 122 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1088 – 1410 | Ser-richAdd BLAST | 323 |
Phylogenomic databases
eggNOGi | KOG1844, Eukaryota |
GeneTreei | ENSGT00940000157446 |
HOGENOMi | CLU_002373_0_0_1 |
InParanoidi | Q5XJV7 |
OMAi | IHAFENL |
OrthoDBi | 86638at2759 |
PhylomeDBi | Q5XJV7 |
TreeFami | TF106417 |
Family and domain databases
InterProi | View protein in InterPro IPR001214, SET_dom |
Pfami | View protein in Pfam PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00317, SET, 1 hit |
PROSITEi | View protein in PROSITE PS50280, SET, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q5XJV7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSIAIPLGVT TPDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR
60 70 80 90 100
HGCRGLPYAT IIPRSDLNGL PSPVEERCGD SPNSEGETVP TWCPCGLSQD
110 120 130 140 150
GFLLNCDKCR GMSRGKVIRL HRRKQDNISG GDSSATESWD EELSPSTVLY
160 170 180 190 200
TATQHTPTSI TLTVRRTKPK KRKKSPEKGR AAPKTKKIKN SPSEAQNLDE
210 220 230 240 250
NTTEGWENRI RLWTDQYEEA FTNQYSADVQ NALEQHLHSN KEFVGKPAIL
260 270 280 290 300
DTINKTELAC NNTVIGSQMQ LQLGRVTRVQ KHRKILRAAR DLALDTLIIE
310 320 330 340 350
YRGKVMLRQQ FEVNGHFFKK PYPFVLFYSK FNGVEMCVDA RTFGNDARFI
360 370 380 390 400
RRSCTPNAEV RHMIADGMIH LCIYAVSAIT KDAEVTIAFD YEYSNCNYKV
410 420 430 440 450
DCACHKGNRN CPIQKRNPNA AELPLPPPPS FPTIGAETRR RKARRKELEL
460 470 480 490 500
EQQNEVPEEN PDPQPQEVPE KVTVSNEHEE VDNPEEKPEE EEKEEATDDQ
510 520 530 540 550
ENSAHSRRTR EDRKVEAIMH AFESLEKRKK RRDQPVEQSS SDIEITTSSS
560 570 580 590 600
EIVVGEETKT AAPESEVSSP VSNVAIPSTP QSTGVNTRRS SHAGDVAAEK
610 620 630 640 650
PIPKPPPAKP SRPRPKSRIS RYRTSSAQRL KRQKQAIAQQ AELSQAALEE
660 670 680 690 700
GGSNNSVTPP EAGNTDSSGE NRQLTGSDPT VISVTGSHVN RAASKYPKTK
710 720 730 740 750
KYLVTEWLND KAEKQECPVE CPLRITTDPT VLATTLNMLP GLIHSPLICT
760 770 780 790 800
TPKHYIRFGS PFMPERRRRP LLPDGTFSSC KKRWIKQALE EGMTQTSSVP
810 820 830 840 850
QETRTQHLYQ SNETSNSSSI CKDNADLLSP LKKWKSRYLM EQNITKLLQP
860 870 880 890 900
LSPVTPPPPS SGSKSPQLTT PGQTHPGEEE CRNGYSLMFS PITSLTTASR
910 920 930 940 950
SNTPLQFELC HRKDLDLTKV GFPDSSTHSC ADRPSLLNCN HPDLASHPSV
960 970 980 990 1000
VPTSEAGFPS RSGDGPQTLL RNSDQAFRTE FNLMYAYSPL NAMPRADGLY
1010 1020 1030 1040 1050
RGSPLVGDRK PLHLDGGYCS PAEGFSSRYE HGFMKDLSRG SMSPGGERTC
1060 1070 1080 1090 1100
EGVPSAPQNP PQRKKVSLLE YRKRKQEAKE NSGGGNDSSQ SKSKSSGAGQ
1110 1120 1130 1140 1150
GSSNSVSDTG AHGVQGSSAG TPSSPHKKFS PSHSSASHLE AVSPSDSRGT
1160 1170 1180 1190 1200
SSSHCRPQEN ISSRWMVPTS VERLREGGSI PKVLRSSVRV AQKGEPSPTW
1210 1220 1230 1240 1250
ESNITEKESD PADGEGPEPL SSALSKGATV YSPSRYSYQL LQCDSPRTES
1260 1270 1280 1290 1300
QSLLQQSSSP FRGHPTQSPG YSYRTTALRP GNPPSHGSSE SSLSSTSYPS
1310 1320 1330 1340 1350
PAHPVSTDSL APFTGTPGYY SSQPHSGNST GSNLPRRSCS SSAASPTPQG
1360 1370 1380 1390 1400
PSDSPTSDSV SQSSTGTLSS TSFPQNSRSS LPSDLRTISL PNAGQSAAYQ
1410 1420 1430 1440
ASRVSAVSNS QHYPHRGSGG VHQYRLQPLQ GSGVKTQTGL S
Sequence cautioni
The sequence BAC33569 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC65833 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1381 | L → F in AAH83184 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024096 | 1 – 792 | Missing in isoform 3. 1 PublicationAdd BLAST | 792 | |
Alternative sequenceiVSP_024097 | 59 | A → ADHNYGAPPPPTPPASPPVQ in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK122551 mRNA Translation: BAC65833.1 Different initiation. AK049143 mRNA Translation: BAC33569.1 Different initiation. AK053541 mRNA Translation: BAC35420.1 BC083184 mRNA Translation: AAH83184.1 |
CCDSi | CCDS20411.1 [Q5XJV7-1] CCDS90096.1 [Q5XJV7-2] |
RefSeqi | NP_082661.1, NM_028385.1 [Q5XJV7-1] NP_766593.1, NM_173005.1 [Q5XJV7-2] XP_011239784.1, XM_011241482.2 [Q5XJV7-2] |
Genome annotation databases
Ensembli | ENSMUST00000042889; ENSMUSP00000047398; ENSMUSG00000034269 [Q5XJV7-1] ENSMUST00000113155; ENSMUSP00000108780; ENSMUSG00000034269 [Q5XJV7-2] ENSMUST00000113157; ENSMUSP00000108782; ENSMUSG00000034269 [Q5XJV7-2] |
GeneIDi | 72895 |
KEGGi | mmu:72895 |
UCSCi | uc009deq.1, mouse [Q5XJV7-1] uc009der.1, mouse [Q5XJV7-2] uc009deu.1, mouse [Q5XJV7-3] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK122551 mRNA Translation: BAC65833.1 Different initiation. AK049143 mRNA Translation: BAC33569.1 Different initiation. AK053541 mRNA Translation: BAC35420.1 BC083184 mRNA Translation: AAH83184.1 |
CCDSi | CCDS20411.1 [Q5XJV7-1] CCDS90096.1 [Q5XJV7-2] |
RefSeqi | NP_082661.1, NM_028385.1 [Q5XJV7-1] NP_766593.1, NM_173005.1 [Q5XJV7-2] XP_011239784.1, XM_011241482.2 [Q5XJV7-2] |
3D structure databases
SMRi | Q5XJV7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 215631, 6 interactors |
IntActi | Q5XJV7, 6 interactors |
STRINGi | 10090.ENSMUSP00000047398 |
PTM databases
iPTMneti | Q5XJV7 |
PhosphoSitePlusi | Q5XJV7 |
Proteomic databases
EPDi | Q5XJV7 |
jPOSTi | Q5XJV7 |
PaxDbi | Q5XJV7 |
PeptideAtlasi | Q5XJV7 |
PRIDEi | Q5XJV7 |
Protocols and materials databases
Antibodypediai | 60053, 82 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000042889; ENSMUSP00000047398; ENSMUSG00000034269 [Q5XJV7-1] ENSMUST00000113155; ENSMUSP00000108780; ENSMUSG00000034269 [Q5XJV7-2] ENSMUST00000113157; ENSMUSP00000108782; ENSMUSG00000034269 [Q5XJV7-2] |
GeneIDi | 72895 |
KEGGi | mmu:72895 |
UCSCi | uc009deq.1, mouse [Q5XJV7-1] uc009der.1, mouse [Q5XJV7-2] uc009deu.1, mouse [Q5XJV7-3] |
Organism-specific databases
CTDi | 55209 |
MGIi | MGI:1920145, Setd5 |
Rougei | Search... |
Phylogenomic databases
eggNOGi | KOG1844, Eukaryota |
GeneTreei | ENSGT00940000157446 |
HOGENOMi | CLU_002373_0_0_1 |
InParanoidi | Q5XJV7 |
OMAi | IHAFENL |
OrthoDBi | 86638at2759 |
PhylomeDBi | Q5XJV7 |
TreeFami | TF106417 |
Miscellaneous databases
BioGRID-ORCSi | 72895, 7 hits in 19 CRISPR screens |
ChiTaRSi | Setd5, mouse |
PROi | PR:Q5XJV7 |
RNActi | Q5XJV7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000034269, Expressed in undifferentiated genital tubercle and 280 other tissues |
Genevisiblei | Q5XJV7, MM |
Family and domain databases
InterProi | View protein in InterPro IPR001214, SET_dom |
Pfami | View protein in Pfam PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00317, SET, 1 hit |
PROSITEi | View protein in PROSITE PS50280, SET, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SETD5_MOUSE | |
Accessioni | Q5XJV7Primary (citable) accession number: Q5XJV7 Secondary accession number(s): Q80T94, Q8BKD5, Q8BX30 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 3, 2007 |
Last sequence update: | April 3, 2007 | |
Last modified: | February 10, 2021 | |
This is version 115 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot