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Protein

Histone-lysine N-methyltransferase SETD1B

Gene

SETD1B

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

Functioni

Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro.

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N6-methyl-L-lysine-[histone].1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei1943S-adenosyl-L-methioninePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Chromatin regulator, Methyltransferase, RNA-binding, Transferase
Biological processTranscription, Transcription regulation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase SETD1B (EC:2.1.1.43)
Alternative name(s):
Lysine N-methyltransferase 2G
SET domain-containing protein 1B
Short name:
hSET1B
Gene namesi
Name:SETD1B
Synonyms:KIAA1076, KMT2G, SET1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139718.10
HGNCiHGNC:29187 SETD1B
MIMi611055 gene
neXtProtiNX_Q9UPS6

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

Chromosome, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi577L → A: Abolishes interaction with RBM15. 1 Publication1
Mutagenesisi579D → A: Abolishes interaction with RBM15. 1 Publication1

Organism-specific databases

DisGeNETi23067
OpenTargetsiENSG00000139718
PharmGKBiPA143485611

Polymorphism and mutation databases

BioMutaiSETD1B
DMDMi166977692

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003169931 – 1966Histone-lysine N-methyltransferase SETD1BAdd BLAST1966

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei986PhosphoserineCombined sources1
Modified residuei994PhosphoserineCombined sources1
Modified residuei1031PhosphoserineCombined sources1
Modified residuei1265PhosphoserineBy similarity1
Modified residuei1283PhosphoserineBy similarity1
Modified residuei1335PhosphoserineCombined sources1
Modified residuei1659PhosphoserineCombined sources1
Modified residuei1663PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UPS6
PaxDbiQ9UPS6
PeptideAtlasiQ9UPS6
PRIDEiQ9UPS6
ProteomicsDBi85430

PTM databases

iPTMnetiQ9UPS6
PhosphoSitePlusiQ9UPS6

Expressioni

Gene expression databases

BgeeiENSG00000139718 Expressed in 240 organ(s), highest expression level in endometrium
CleanExiHS_SETD1B
ExpressionAtlasiQ9UPS6 baseline and differential
GenevisibleiQ9UPS6 HS

Organism-specific databases

HPAiHPA021667
HPA059412

Interactioni

Subunit structurei

Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1 and ASH2L/ASH2. Interacts (via the RRM domain) with WDR82. Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad. Interacts with RBM15.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ASH2LQ9UBL3-32EBI-16197836,EBI-16130425

Protein-protein interaction databases

BioGridi116702, 23 interactors
CORUMiQ9UPS6
DIPiDIP-61947N
ELMiQ9UPS6
IntActiQ9UPS6, 13 interactors
STRINGi9606.ENSP00000267197

Structurei

Secondary structure

11966
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UPS6
SMRiQ9UPS6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini93 – 181RRMPROSITE-ProRule annotationAdd BLAST89
Domaini1827 – 1944SETPROSITE-ProRule annotationAdd BLAST118
Domaini1950 – 1966Post-SETPROSITE-ProRule annotationAdd BLAST17

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1173 – 1204Sequence analysisAdd BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi366 – 1671Pro-richAdd BLAST1306
Compositional biasi1040 – 1175Ser-richAdd BLAST136
Compositional biasi1068 – 1312Glu-richAdd BLAST245
Compositional biasi1103 – 1138Asp-richAdd BLAST36

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1080 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00760000119228
HOGENOMiHOG000168216
HOVERGENiHBG055596
InParanoidiQ9UPS6
OMAiPVMQVDM
OrthoDBiEOG091G00IV
TreeFamiTF106436

Family and domain databases

CDDicd12549 RRM_Set1B, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR024657 COMPASS_Set1_N-SET
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR003616 Post-SET_dom
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR034468 Set1B_RRM
IPR001214 SET_dom
IPR037842 SETD1B
PANTHERiPTHR22884:SF475 PTHR22884:SF475, 1 hit
PfamiView protein in Pfam
PF11764 N-SET, 1 hit
PF00076 RRM_1, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM01291 N-SET, 1 hit
SM00508 PostSET, 1 hit
SM00360 RRM, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50868 POST_SET, 1 hit
PS50102 RRM, 1 hit
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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPS6-1) [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
MENSHPPHHH HQQPPPQPGP SGERRNHHWR SYKLMIDPAL KKGHHKLYRY
60 70 80 90 100
DGQHFSLAMS SNRPVEIVED PRVVGIWTKN KELELSVPKF KIDEFYVGPV
110 120 130 140 150
PPKQVTFAKL NDNIRENFLR DMCKKYGEVE EVEILYNPKT KKHLGIAKVV
160 170 180 190 200
FATVRGAKDA VQHLHSTSVM GNIIHVELDT KGETRMRFYE LLVTGRYTPQ
210 220 230 240 250
TLPVGELDAV SPIVNETLQL SDALKRLKDG GLSAGCGSGS SSVTPNSGGT
260 270 280 290 300
PFSQDTAYSS CRLDTPNSYG QGTPLTPRLG TPFSQDSSYS SRQPTPSYLF
310 320 330 340 350
SQDPAVTFKA RRHESKFTDA YNRRHEHHYV HNSPAVTAVA GATAAFRGSS
360 370 380 390 400
DLPFGAVGGT GGSSGPPFKA QPQDSATFAH TPPPAQATPA PGFKSAFSPY
410 420 430 440 450
QTPVAHFPPP PEEPTATAAF GARDSGEFRR APAPPPLPPA EPLAKEKPGT
460 470 480 490 500
PPGPPPPDTN SMELGGRPTF GWSPEPCDSP GTPTLESSPA GPEKPHDSLD
510 520 530 540 550
SRIEMLLKEQ RTKLLFLREP DSDTELQMEG SPISSSSSQL SPLAPFGTNS
560 570 580 590 600
QPGFRGPTPP SSRPSSTGLE DISPTPLPDS DEDEELDLGL GPRPPPEPGP
610 620 630 640 650
PDPAGLLSQT AEVALDLVGD RTPTSEKMDE GQQSSGEDME ISDDEMPSAP
660 670 680 690 700
ITSADCPKPM VVTPGAAAVA APSVLAPTLP LPPPPGFPPL PPPPPPPPPQ
710 720 730 740 750
PGFPMPPPLP PPPPPPPPAH PAVTVPPPPL PAPPGVPPPP ILPPLPPFPP
760 770 780 790 800
GLFPVMQVDM SHVLGGQWGG MPMSFQMQTQ VLSRLMTGQG ACPYPPFMAA
810 820 830 840 850
AAAAASAGLQ FVNLPPYRGP FSLSNSGPGR GQHWPPLPKF DPSVPPPGYM
860 870 880 890 900
PRQEDPHKAT VDGVLLVVLK ELKAIMKRDL NRKMVEVVAF RAFDEWWDKK
910 920 930 940 950
ERMAKASLTP VKSGEHKDED RPKPKDRIAS CLLESWGKGE GLGYEGLGLG
960 970 980 990 1000
IGLRGAIRLP SFKVKRKEPP DTTSSGDQKR LRPSTSVDEE DEESERERDR
1010 1020 1030 1040 1050
DMADTPCELA KRDPKGVGVR RRPARPLELD SGGEEDEKES LSASSSSSAS
1060 1070 1080 1090 1100
SSSGSSTTSP SSSASDKEEE QESTEEEEEA EEEEEEEVPR SQLSSSSTSS
1110 1120 1130 1140 1150
TSDKDDDDDD SDDRDESEND DEDTALSEAS EKDEGDSDEE ETVSIVTSKA
1160 1170 1180 1190 1200
EATSSSESSE SSEFESSSES SPSSSEDEEE VVAREEEEEE EEEEMVAEES
1210 1220 1230 1240 1250
MASAGPEDFE QDGEEAALAP GAPAVDSLGM EEEVDIETEA VAPEERPSML
1260 1270 1280 1290 1300
DEPPLPVGVE EPADSREPPE EPGLSQEGAM LLSPEPPAKE VEARPPLSPE
1310 1320 1330 1340 1350
RAPEHDLEVE PEPPMMLPLP LQPPLPPPRP PRPPSPPPEP ETTDASHPSV
1360 1370 1380 1390 1400
PPEPLAEDHP PHTPGLCGSL AKSQSTETVP ATPGGEPPLS GGSSGLSLSS
1410 1420 1430 1440 1450
PQVPGSPFSY PAPSPSLSSG GLPRTPGRDF SFTPTFSEPS GPLLLPVCPL
1460 1470 1480 1490 1500
PTGRRDERSG PLASPVLLET GLPLPLPLPL PLPLALPAVL RAQARAPTPL
1510 1520 1530 1540 1550
PPLLPAPLAS CPPPMKRKPG RPRRSPPSML SLDGPLVRPP AGAALGRELL
1560 1570 1580 1590 1600
LLPGQPQTPV FPSTHDPRTV TLDFRNAGIP APPPPLPPQP PPPPPPPPVE
1610 1620 1630 1640 1650
PTKLPFKELD NQWPSEAIPP GPRGRDEVTE EYMELAKSRG PWRRPPKKRH
1660 1670 1680 1690 1700
EDLVPPAGSP ELSPPQPLFR PRSEFEEMTI LYDIWNGGID EEDIRFLCVT
1710 1720 1730 1740 1750
YERLLQQDNG MDWLNDTLWV YHPSTSLSSA KKKKRDDGIR EHVTGCARSE
1760 1770 1780 1790 1800
GFYTIDKKDK LRYLNSSRAS TDEPPADTQG MSIPAQPHAS TRAGSERRSE
1810 1820 1830 1840 1850
QRRLLSSFTG SCDSDLLKFN QLKFRKKKLK FCKSHIHDWG LFAMEPIAAD
1860 1870 1880 1890 1900
EMVIEYVGQN IRQVIADMRE KRYEDEGIGS SYMFRVDHDT IIDATKCGNF
1910 1920 1930 1940 1950
ARFINHSCNP NCYAKVITVE SQKKIVIYSK QHINVNEEIT YDYKFPIEDV
1960
KIPCLCGSEN CRGTLN
Length:1,966
Mass (Da):212,803
Last modified:March 19, 2014 - v3
Checksum:i164F81BC84EAD2C2
GO
Isoform 2 (identifier: Q9UPS6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1043-1068: Missing.
     1088-1104: Missing.

Show »
Length:1,923
Mass (Da):208,732
Checksum:i057CD0948D670243
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQV9A0A0A0MQV9_HUMAN
Histone-lysine N-methyltransferase ...
SETD1B
1,923Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538751043 – 1068Missing in isoform 2. CuratedAdd BLAST26
Alternative sequenceiVSP_0538761088 – 1104Missing in isoform 2. CuratedAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JF813787 mRNA Translation: AEG67286.1
AC079360 Genomic DNA No translation available.
AC084018 Genomic DNA No translation available.
AB028999 mRNA Translation: BAA83028.1
CCDSiCCDS86338.1 [Q9UPS6-1]
RefSeqiNP_055863.1, NM_015048.1
XP_005253915.1, XM_005253858.4 [Q9UPS6-1]
XP_006719359.1, XM_006719296.3 [Q9UPS6-1]
UniGeneiHs.507122

Genome annotation databases

EnsembliENST00000542440; ENSP00000442924; ENSG00000139718 [Q9UPS6-2]
ENST00000604567; ENSP00000474253; ENSG00000139718 [Q9UPS6-1]
ENST00000619791; ENSP00000481531; ENSG00000139718 [Q9UPS6-1]
GeneIDi23067
UCSCiuc021rfg.2 human [Q9UPS6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JF813787 mRNA Translation: AEG67286.1
AC079360 Genomic DNA No translation available.
AC084018 Genomic DNA No translation available.
AB028999 mRNA Translation: BAA83028.1
CCDSiCCDS86338.1 [Q9UPS6-1]
RefSeqiNP_055863.1, NM_015048.1
XP_005253915.1, XM_005253858.4 [Q9UPS6-1]
XP_006719359.1, XM_006719296.3 [Q9UPS6-1]
UniGeneiHs.507122

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3UVOX-ray2.20B1745-1755[»]
4ES0X-ray1.82C1741-1754[»]
ProteinModelPortaliQ9UPS6
SMRiQ9UPS6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116702, 23 interactors
CORUMiQ9UPS6
DIPiDIP-61947N
ELMiQ9UPS6
IntActiQ9UPS6, 13 interactors
STRINGi9606.ENSP00000267197

PTM databases

iPTMnetiQ9UPS6
PhosphoSitePlusiQ9UPS6

Polymorphism and mutation databases

BioMutaiSETD1B
DMDMi166977692

Proteomic databases

EPDiQ9UPS6
PaxDbiQ9UPS6
PeptideAtlasiQ9UPS6
PRIDEiQ9UPS6
ProteomicsDBi85430

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000542440; ENSP00000442924; ENSG00000139718 [Q9UPS6-2]
ENST00000604567; ENSP00000474253; ENSG00000139718 [Q9UPS6-1]
ENST00000619791; ENSP00000481531; ENSG00000139718 [Q9UPS6-1]
GeneIDi23067
UCSCiuc021rfg.2 human [Q9UPS6-1]

Organism-specific databases

CTDi23067
DisGeNETi23067
EuPathDBiHostDB:ENSG00000139718.10
GeneCardsiSETD1B
H-InvDBiHIX0011090
HGNCiHGNC:29187 SETD1B
HPAiHPA021667
HPA059412
MIMi611055 gene
neXtProtiNX_Q9UPS6
OpenTargetsiENSG00000139718
PharmGKBiPA143485611
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1080 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00760000119228
HOGENOMiHOG000168216
HOVERGENiHBG055596
InParanoidiQ9UPS6
OMAiPVMQVDM
OrthoDBiEOG091G00IV
TreeFamiTF106436

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Miscellaneous databases

GenomeRNAii23067
PROiPR:Q9UPS6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139718 Expressed in 240 organ(s), highest expression level in endometrium
CleanExiHS_SETD1B
ExpressionAtlasiQ9UPS6 baseline and differential
GenevisibleiQ9UPS6 HS

Family and domain databases

CDDicd12549 RRM_Set1B, 1 hit
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR024657 COMPASS_Set1_N-SET
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR003616 Post-SET_dom
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR034468 Set1B_RRM
IPR001214 SET_dom
IPR037842 SETD1B
PANTHERiPTHR22884:SF475 PTHR22884:SF475, 1 hit
PfamiView protein in Pfam
PF11764 N-SET, 1 hit
PF00076 RRM_1, 1 hit
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM01291 N-SET, 1 hit
SM00508 PostSET, 1 hit
SM00360 RRM, 1 hit
SM00317 SET, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50868 POST_SET, 1 hit
PS50102 RRM, 1 hit
PS50280 SET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSET1B_HUMAN
AccessioniPrimary (citable) accession number: Q9UPS6
Secondary accession number(s): F6MFW1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 19, 2014
Last modified: September 12, 2018
This is version 135 of the entry and version 3 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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