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KMT5B Gene(Protein Coding)

Lysine Methyltransferase 5B

GCID:
GC11M068155
GIFtS:
41
Genes Participants
UDN Logo

Aliases for KMT5B Gene

Aliases for KMT5B Gene

  • Lysine Methyltransferase 5B 2 3 5
  • Lysine (K)-Specific Methyltransferase 5B 2 3
  • Suppressor Of Variegation 4-20 Homolog 1 3 4
  • Lysine-Specific Methyltransferase 5B 3 4
  • Lysine N-Methyltransferase 5B 3 4
  • Su(Var)4-20 Homolog 1 3 4
  • Suv4-20h1 3 4
  • SUV420H1 3 4
  • Suppressor Of Variegation 4-20 Homolog 1 (Drosophila) 2
  • Histone-Lysine N-Methyltransferase SUV420H1 3
  • Histone-Lysine N-Methyltransferase KMT5B 3
  • C630029K18Rik 3
  • EC 2.1.1.43 4
  • CGI-85 3
  • CGI85 3

External Ids for KMT5B Gene

Previous HGNC Symbols for KMT5B Gene

  • SUV420H1

Summaries for KMT5B Gene

Entrez Gene Summary for KMT5B Gene

  • This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for KMT5B Gene

KMT5B (Lysine Methyltransferase 5B) is a Protein Coding gene. Diseases associated with KMT5B include Autism Spectrum Disorder Susceptibility, Kmt5b-Related. Among its related pathways are Lysine degradation and Glucocorticoid receptor regulatory network. An important paralog of this gene is KMT5C.

UniProtKB/Swiss-Prot for KMT5B Gene

  • Histone methyltransferase that specifically trimethylates Lys-20 of histone H4. H4 Lys-20 trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.

Gene Wiki entry for KMT5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT5B Gene

Genomics for KMT5B Gene

Products:

  1. Regulatory Element

Regulatory Elements for KMT5B Gene

Enhancers for KMT5B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G068471 1.3 FANTOM5 Ensembl ENCODE 2.1 -258.3 -258292 1.9 HDGF PKNOX1 ZNF146 WRNIP1 MAX POLR2A EGR1 RELB IKZF2 EGR2 PPP6R3 TCIRG1 CHKA KMT5B IGHMBP2 GC11P068486
GH11G068059 0.9 FANTOM5 1.8 +154.1 154077 0.4 HDAC1 ATF1 ARNT ZBTB40 ZSCAN5C SMARCA5 ZNF280D CEBPB ZEB2 MEF2D CHKA KMT5B ACY3 PPP6R3 GC11M068058 ENSG00000255031
GH11G068187 0.7 FANTOM5 1.9 +26.1 26051 0.4 ATF1 ZNF777 MXI1 ZBTB8A ZNF335 ZNF629 SCRT2 ZBTB26 EZH2 TCIRG1 NDUFS8 ENSG00000255031 KMT5B GC11M068148
GH11G068208 1.5 Ensembl ENCODE dbSUPER 0.7 +4.2 4240 1.8 ARNT ARID4B SIN3A ZNF766 ZNF143 DEK MXD4 MIER2 REST ZNF579 C11orf24 PPP6R3 ENSG00000255031 KMT5B GC11M068148
GH11G068210 1.4 ENCODE dbSUPER 0.7 +0.7 721 4.7 HDGF HNRNPUL1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ENSG00000255031 C11orf24 IGHMBP2 PPP6R3 ENSG00000255119 KMT5B GC11M068148
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KMT5B on UCSC Golden Path with GeneCards custom track

Promoters for KMT5B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041200 528 2601 HNRNPUL1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143

Genomic Location for KMT5B Gene

Chromosome:
11
Start:
68,154,863 bp from pter
End:
68,213,828 bp from pter
Size:
58,966 bases
Orientation:
Minus strand

Genomic View for KMT5B Gene

Genes around KMT5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT5B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KMT5B Gene

Proteins for KMT5B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KMT5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4FZB7-KMT5B_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase KMT5B
    Protein Accession:
    Q4FZB7
    Secondary Accessions:
    • B7WNX7
    • Q3SX56
    • Q4V775
    • Q6P150
    • Q96E44
    • Q9BUL0
    • Q9H022
    • Q9H2K3
    • Q9NXV3
    • Q9Y393

    Protein attributes for KMT5B Gene

    Size:
    885 amino acids
    Molecular mass:
    99187 Da
    Quaternary structure:
    • Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 (By similarity). Interacts (via C-terminus) with FRG1.
    SequenceCaution:
    • Sequence=AAD34080.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG36937.1; Type=Frameshift; Positions=233, 249, 254, 272; Evidence={ECO:0000305}; Sequence=AAH98121.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI04484.1; Type=Frameshift; Positions=396; Evidence={ECO:0000305}; Sequence=BAA90905.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KMT5B Gene

    Alternative splice isoforms for KMT5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KMT5B Gene

Post-translational modifications for KMT5B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KMT5B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KMT5B Gene

Domains & Families for KMT5B Gene

Gene Families for KMT5B Gene

HGNC:

Protein Domains for KMT5B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KMT5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4FZB7

UniProtKB/Swiss-Prot:

KMT5B_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar4-20 subfamily.
genes like me logo Genes that share domains with KMT5B: view

Function for KMT5B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KMT5B 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 trimethylates Lys-20 of histone H4. H4 Lys-20 trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated in breast cancer cells.

Enzyme Numbers (IUBMB) for KMT5B Gene

Gene Ontology (GO) - Molecular Function for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity TAS --
GO:0042799 histone methyltransferase activity (H4-K20 specific) IEA --
genes like me logo Genes that share ontologies with KMT5B: view
genes like me logo Genes that share phenotypes with KMT5B: view

Animal Models for KMT5B Gene

MGI Knock Outs for KMT5B:

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT5B Gene

Localization for KMT5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT5B Gene

Nucleus. Chromosome. Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT5B gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000780 condensed nuclear chromosome, centromeric region IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with KMT5B: view

Pathways & Interactions for KMT5B Gene

genes like me logo Genes that share pathways with KMT5B: view

Pathways by source for KMT5B Gene

1 KEGG pathway for KMT5B Gene

Gene Ontology (GO) - Biological Process for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007517 muscle organ development IEA --
GO:0016569 covalent chromatin modification IEA --
GO:0016571 histone methylation IEA --
genes like me logo Genes that share ontologies with KMT5B: view

No data available for SIGNOR curated interactions for KMT5B Gene

Drugs & Compounds for KMT5B Gene

Products:

  1. Drug

(4) Drugs for KMT5B Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
Chaetocin Pharma SUV39H1 Inhibitor, SUV39H1 inhibitor 0
UNC 2400 Pharma negative control of UNC1999, Negative control of UNC 1999 (Cat. No. 4904) 0

(3) Additional Compounds for KMT5B Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-PFI 2 hydrochloride
1627607-88-8
OICR 9429
UNC 0638
1255517-77-1

(5) Tocris Compounds for KMT5B Gene

Compound Action Cas Number
(S)-PFI 2 hydrochloride Negative control of (R)-PFI 2 hydrochloride (Cat. No. 4892) 1627607-88-8
Chaetocin SUV39H1 inhibitor 28097-03-2
OICR 9429 High affinity and selective WDR5 antagonist
UNC 0638 Selective G9a and GLP inhibitor 1255517-77-1
UNC 2400 Negative control of UNC 1999 (Cat. No. 4904) 1433200-49-7
genes like me logo Genes that share compounds with KMT5B: view

Transcripts for KMT5B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KMT5B Gene

(17) REFSEQ mRNAs :
(362) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KMT5B Gene

No ASD Table

Relevant External Links for KMT5B Gene

GeneLoc Exon Structure for
KMT5B
ECgene alternative splicing isoforms for
KMT5B

Expression for KMT5B Gene

Products:

  1. Primer

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of KMT5B Gene:

KMT5B

Evidence on tissue expression from TISSUES for KMT5B Gene

  • Intestine(4.3)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with KMT5B: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT5B Gene

Orthologs for KMT5B Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SUV420H1 35 34
  • 99.77 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SUV420H1 35 34
  • 95.41 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SUV420H1 35 34
  • 88.64 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Suv420h1 34
  • 86.3 (n)
mouse
(Mus musculus)
 Mammalia Suv420h1 35 34
  • 85.42 (n)
 OneToOne
Kmt5b 16
platypus
(Ornithorhynchus anatinus)
 Mammalia SUV420H1 35
  • 84 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SUV420H1 35
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SUV420H1 35 34
  • 80.76 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SUV420H1 35
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia suv420h1 34
  • 72.79 (n)
Str.16943 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1754 34
zebrafish
(Danio rerio)
 Actinopterygii suv420h1 35 34
  • 60.24 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Hmt4-20 35
  • 19 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea set-4 35 34
  • 50.96 (n)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9369 35
  • 60 (a)
 OneToMany
Species where no ortholog for KMT5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 KMT5B Gene

ENSEMBL:
Gene Tree for KMT5B (if available)
TreeFam:
Gene Tree for KMT5B (if available)

Paralogs for KMT5B Gene

Paralogs for KMT5B Gene

genes like me logo Genes that share paralogs with KMT5B: view

Variants for KMT5B Gene

Sequence variations from dbSNP and Humsavar for KMT5B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs878853164 Likely pathogenic 68,157,849(-) CTTCT(G/T)AGGGC reference, stop-gained
rs1057518998 Uncertain significance 68,171,062(-) GATGG(-/G)TTCTT reference, frameshift-variant, utr-variant-5-prime
rs1000011031 -- 68,211,383(+) TGGAT(A/G)AAGAA intron-variant
rs1000115536 -- 68,201,111(+) ATGAT(C/T)TCCAG intron-variant
rs1000130543 -- 68,164,596(+) CCTTC(-/AG)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KMT5B Gene

Variant ID Type Subtype PubMed ID
nsv1112605 CNV deletion 24896259
nsv1145546 CNV deletion 24896259
nsv825963 CNV gain 20364138
nsv825966 CNV gain 20364138
nsv951027 CNV deletion 24416366
nsv957188 CNV deletion 24416366

Variation tolerance for KMT5B Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KMT5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT5B Gene

Disorders for KMT5B Gene

MalaCards: The human disease database

(1) MalaCards diseases for KMT5B Gene - From: GeneTests

- elite association - COSMIC cancer census association via MalaCards
Search KMT5B in MalaCards View complete list of genes associated with diseases

Relevant External Links for KMT5B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT5B
genes like me logo Genes that share disorders with KMT5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KMT5B Gene

Publications for KMT5B Gene

  1. The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13. (PMID: 11401438) Twells R.C.J. … Hess J.F. (Genomics 2001) 2 3 4 64
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  3. FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. (PMID: 23720823) Neguembor M.V. … Gabellini D. (J Mol Cell Biol 2013) 3 4 64
  4. Loss of DNA methylation and histone H4 lysine 20 trimethylation in human breast cancer cells is associated with aberrant expression of DNA methyltransferase 1, Suv4-20h2 histone methyltransferase and methyl-binding proteins. (PMID: 16322686) Tryndyak V.P. … Pogribny I.P. (Cancer Biol. Ther. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for KMT5B Gene

Sources for KMT5B Gene

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