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Aliases for SETD1B Gene

Aliases for SETD1B Gene

  • SET Domain Containing 1B 2 3 5
  • SET Domain-Containing Protein 1B 3 4
  • Lysine N-Methyltransferase 2G 3 4
  • EC 2.1.1.43 4 63
  • HSET1B 3 4
  • Set1B 3 4
  • KMT2G 3 4
  • KIAA1076 4
  • EC 2.1.1 63

External Ids for SETD1B Gene

Previous GeneCards Identifiers for SETD1B Gene

  • GC12P120726
  • GC12P122243
  • GC12P119254
  • GC12P121865
  • GC12P121868

Summaries for SETD1B Gene

Entrez Gene Summary for SETD1B Gene

  • SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SETD1B Gene

SETD1B (SET Domain Containing 1B) is a Protein Coding gene. Among its related pathways are Lysine degradation and Chromatin organization. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is KMT2C.

UniProtKB/Swiss-Prot for SETD1B Gene

  • 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-overalpping 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETD1B Gene

Genomics for SETD1B Gene

Regulatory Elements for SETD1B Gene

Enhancers for SETD1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SETD1B on UCSC Golden Path with GeneCards custom track

Promoters for SETD1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SETD1B on UCSC Golden Path with GeneCards custom track

Genomic Location for SETD1B Gene

Chromosome:
12
Start:
121,803,530 bp from pter
End:
121,832,656 bp from pter
Size:
29,127 bases
Orientation:
Plus strand

Genomic View for SETD1B Gene

Genes around SETD1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETD1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETD1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETD1B Gene

Proteins for SETD1B Gene

  • Protein details for SETD1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPS6-SET1B_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase SETD1B
    Protein Accession:
    Q9UPS6
    Secondary Accessions:
    • F6MFW1

    Protein attributes for SETD1B Gene

    Size:
    1966 amino acids
    Molecular mass:
    212803 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SETD1B Gene

    Alternative splice isoforms for SETD1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETD1B Gene

Proteomics data for SETD1B Gene at MOPED

Post-translational modifications for SETD1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SETD1B Gene

Domains & Families for SETD1B Gene

Protein Domains for SETD1B Gene

Suggested Antigen Peptide Sequences for SETD1B Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPS6

UniProtKB/Swiss-Prot:

SET1B_HUMAN :
  • Contains 1 post-SET domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Domain:
  • Contains 1 post-SET domain.
  • Contains 1 RRM (RNA recognition motif) domain.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
genes like me logo Genes that share domains with SETD1B: view

Function for SETD1B Gene

Molecular function for SETD1B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
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-overalpping 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.

Enzyme Numbers (IUBMB) for SETD1B Gene

Gene Ontology (GO) - Molecular Function for SETD1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with SETD1B: view
genes like me logo Genes that share phenotypes with SETD1B: view

Animal Model Products

CRISPR Products

miRNA for SETD1B Gene

miRTarBase miRNAs that target SETD1B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SETD1B Gene

Localization for SETD1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETD1B Gene

Nucleus speckle. Chromosome. Note=Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SETD1B Gene COMPARTMENTS Subcellular localization image for SETD1B gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SETD1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with SETD1B: view

Pathways & Interactions for SETD1B Gene

genes like me logo Genes that share pathways with SETD1B: view

Pathways by source for SETD1B Gene

1 GeneTex pathway for SETD1B Gene
1 KEGG pathway for SETD1B Gene

Gene Ontology (GO) - Biological Process for SETD1B Gene

None

No data available for SIGNOR curated interactions for SETD1B Gene

Drugs & Compounds for SETD1B Gene

(2) Drugs for SETD1B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with SETD1B: view

Transcripts for SETD1B Gene

mRNA/cDNA for SETD1B Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SETD1B Gene

SET domain containing 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SETD1B Gene

No ASD Table

Relevant External Links for SETD1B Gene

GeneLoc Exon Structure for
SETD1B
ECgene alternative splicing isoforms for
SETD1B

Expression for SETD1B Gene

mRNA expression in normal human tissues for SETD1B Gene

Protein differential expression in normal tissues from HIPED for SETD1B Gene

This gene is overexpressed in NK cells (21.2), Peripheral blood mononuclear cells (14.3), Islet of Langerhans (13.2), Ovary (9.0), and CD8 Tcells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SETD1B Gene



SOURCE GeneReport for Unigene cluster for SETD1B Gene Hs.507122

genes like me logo Genes that share expression patterns with SETD1B: view

Protein tissue co-expression partners for SETD1B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SETD1B Gene

Orthologs for SETD1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SETD1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SETD1B 35
  • 86.56 (n)
  • 88.53 (a)
SETD1B 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SETD1B 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SETD1B 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setd1b 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SETD1B 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SETD1B 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETD1B 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SETD1B 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6802 35
zebrafish
(Danio rerio)
Actinopterygii setd1ba 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Set1 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-2 36
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SET1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4378 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7781 36
  • 42 (a)
OneToMany
Species with no ortholog for SETD1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SETD1B Gene

ENSEMBL:
Gene Tree for SETD1B (if available)
TreeFam:
Gene Tree for SETD1B (if available)

Paralogs for SETD1B Gene

Paralogs for SETD1B Gene

genes like me logo Genes that share paralogs with SETD1B: view

Variants for SETD1B Gene

Sequence variations from dbSNP and Humsavar for SETD1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2019561 -- 121,812,711(+) GCCCG(C/T)CTGTC intron-variant
rs2019562 -- 121,812,585(+) GCAGG(A/T)TCTGC intron-variant
rs7138525 -- 121,826,741(+) GGCCG(C/T)GAGGA intron-variant
rs7302998 -- 121,826,547(+) CCACT(G/T)GTGGG intron-variant
rs2122266 -- 121,825,909(+) CCAAA(C/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SETD1B Gene

Variant ID Type Subtype PubMed ID
nsv899566 CNV Loss 21882294
nsv899567 CNV Gain 21882294
nsv911 CNV Loss 18451855
nsv899568 CNV Gain 21882294
nsv520973 CNV Loss 19592680

Variation tolerance for SETD1B Gene

Gene Damage Index Score: 3.84; 58.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SETD1B Gene

HapMap Linkage Disequilibrium report
SETD1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETD1B Gene

Disorders for SETD1B Gene

Relevant External Links for SETD1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SETD1B

No disorders were found for SETD1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SETD1B Gene

Publications for SETD1B Gene

  1. Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PMID: 17355966) Lee J.-H. … Skalnik D.G. (J. Biol. Chem. 2007) 2 3 4 67
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PMID: 24026423) Shameer K. … Kullo I.J. (Hum. Genet. 2014) 3

Products for SETD1B Gene

Sources for SETD1B Gene

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