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Aliases for KMT5B Gene

Aliases for KMT5B Gene

  • Lysine Methyltransferase 5B 2 3 5
  • Suppressor Of Variegation 4-20 Homolog 1 3 4
  • Lysine (K)-Specific Methyltransferase 5B 2 3
  • 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
  • MRD51 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 Mental Retardation, Autosomal Dominant 51 and Type 1 Diabetes Mellitus 4. Among its related pathways are Glucocorticoid receptor regulatory network and Chromatin organization. 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for KMT5B Gene

Promoters and enhancers for KMT5B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J068210 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 707.7 +0.7 721 4.7 HDGF ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 ZNF213 KMT5B PPP6R3 TPCN2 RAD9A ENSG00000255031 IGHMBP2 ENSG00000260808 C11orf24 CLCF1 CORO1B
GH11J068098 Enhancer 1.4 Ensembl ENCODE dbSUPER 117.2 +112.8 112786 4.7 FOXA2 SMAD1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF213 SP5 KMT5B PPP6R3 MRGPRF-AS1 ENSG00000260808 ENSG00000261625 TPCN2 RAD9A MRGPRF KDM2A CORO1B
GH11J068459 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 60.5 -247.4 -247421 3.3 YY1 ZNF213 ZNF143 SP3 NFYC SSRP1 GLIS1 NBN NR2C1 KDM1A PPP6R3 KMT5B ENSG00000260808 TPCN2 IGHMBP2 MRGPRF-AS1 ENSG00000261625 MRGPRF GC11P068486
GH11J067390 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 55.7 +822.0 821950 2.2 CLOCK MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 E2F8 RAD9A PIR46028 RBM14 KMT5B ENSG00000258297 RBM4 RCE1 MRPL11 KDM2A RHOD
GH11J068902 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 53.1 -690.5 -690498 2.7 ZFP64 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 ZC3H11A ZFP41 ZNF610 IGHMBP2 MRPL21 LTO1 KMT5B MRGPRF-AS1 MRGPRF LOC105369364 PPP6R3 ENSG00000260808 ENSG00000261625
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KMT5B on UCSC Golden Path with GeneCards custom track

Genomic Locations for KMT5B Gene

Genomic Locations for KMT5B Gene
chr11:68,154,863-68,213,828
(GRCh38/hg38)
Size:
58,966 bases
Orientation:
Minus strand
chr11:67,922,330-67,981,295
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for KMT5B Gene

Proteins for KMT5B Gene

  • 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

No data available for DME Specific Peptides for KMT5B Gene

Domains & Families for KMT5B Gene

Gene Families for KMT5B Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KMT5B Gene

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

Molecular function for KMT5B Gene

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 CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated in breast cancer cells.

Enzyme Numbers (IUBMB) for KMT5B Gene

Phenotypes From GWAS Catalog for KMT5B Gene

Gene Ontology (GO) - Molecular Function for KMT5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
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:
  • Kmt5b Kmt5b<tm1.1Jnw>
  • Kmt5b Kmt5b<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT5B

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007517 muscle organ development 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

(1) Drugs for KMT5B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for KMT5B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with KMT5B: view

Transcripts for KMT5B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT5B

Clone 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

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

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 34 33
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SUV420H1 34 33
  • 95.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SUV420H1 34 33
  • 88.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Suv420h1 33
  • 86.3 (n)
mouse
(Mus musculus)
Mammalia Suv420h1 34 33
  • 85.42 (n)
OneToOne
Kmt5b 16
platypus
(Ornithorhynchus anatinus)
Mammalia SUV420H1 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUV420H1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUV420H1 34 33
  • 80.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUV420H1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia suv420h1 33
  • 72.79 (n)
Str.16943 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1754 33
zebrafish
(Danio rerio)
Actinopterygii suv420h1 34 33
  • 60.24 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmt4-20 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-4 34 33
  • 50.96 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9369 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KMT5B: view image

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 Variation AA Info Type
rs1057518998 uncertain-significance, Language retardation 68,171,062(-) CCC/CC 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs878853164 likely-pathogenic, not provided 68,157,849(-) C/A coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs1000011031 -- 68,211,383(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000115536 -- 68,201,111(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000130543 -- 68,164,596(-) AGAGAGAG/AGAGAG genic_downstream_transcript_variant, 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)

Additional Variant Information for KMT5B Gene

Human Gene Mutation Database (HGMD)
KMT5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT5B

SNP Genotyping and Copy Number Assay Products

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

Disorders for KMT5B Gene

MalaCards: The human disease database

(3) MalaCards diseases for KMT5B Gene - From: HGMD, OMIM, ClinVar, and DISEASES

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 51
  • mrd51
type 1 diabetes mellitus 4
  • diabetes mellitus, insulin-dependent, 4
immunodeficiency with hyper-igm, type 2
  • higm2
- elite association - COSMIC cancer census association via MalaCards
Search KMT5B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 RC … Hess JF (Genomics 2001) 2 3 4 58
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  3. FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. (PMID: 23720823) Neguembor MV … Gabellini D (Journal of molecular cell biology 2013) 3 4 58
  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 VP … Pogribny IP (Cancer biology & therapy 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for KMT5B Gene

Sources for KMT5B Gene

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