Human Gene KMT5A (ENST00000402868.8) from GENCODE V44
  Description: Homo sapiens lysine methyltransferase 5A (KMT5A), transcript variant 5, non-coding RNA. (from RefSeq NR_136910)
RefSeq Summary (NM_020382): The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016].
Gencode Transcript: ENST00000402868.8
Gencode Gene: ENSG00000183955.14
Transcript (Including UTRs)
   Position: hg38 chr12:123,384,132-123,409,353 Size: 25,222 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr12:123,384,199-123,407,703 Size: 23,505 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:123,384,132-123,409,353)mRNA (may differ from genome)Protein (352 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SETD8_HUMAN
DESCRIPTION: RecName: Full=N-lysine methyltransferase SETD8; EC=2.1.1.-; AltName: Full=H4-K20-HMTase SETD8; AltName: Full=Histone-lysine N-methyltransferase SETD8; EC=2.1.1.43; AltName: Full=Lysine N-methyltransferase 5A; AltName: Full=PR/SET domain-containing protein 07; Short=PR-Set7; Short=PR/SET07; AltName: Full=SET domain-containing protein 8;
FUNCTION: Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes.
CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
SUBUNIT: Interacts with L3MBTL1.
INTERACTION: P62805:HIST2H4B; NbExp=4; IntAct=EBI-1268946, EBI-302023;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Specifically localizes to mitotic chromosomes. Associates with silent chromatin on euchromatic arms. Not associated with constitutive heterochromatin.
DEVELOPMENTAL STAGE: Not detected during G1 phase. First detected during S through G2 phases, and peaks during mitosis (at protein level).
INDUCTION: By HCFC1 C-terminal chain, independently of HCFC1 N- terminal chain.
DOMAIN: Although the SET domain contains the active site of enzymatic activity, both sequences upstream and downstream of the SET domain are required for methyltransferase activity.
SIMILARITY: Belongs to the histone-lysine methyltransferase family. PR/SET subfamily.
SIMILARITY: Contains 1 SET domain.
CAUTION: It is uncertain whether Met-1 or Met-72 is the initiator.
SEQUENCE CAUTION: Sequence=AAL40879.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.39 RPKM in Prostate
Total median expression: 606.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.6067-0.263 Picture PostScript Text
3' UTR -533.801650-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016858 - Hist_H4-K20_MeTrfase
IPR001214 - SET_dom

Pfam Domains:
PF00856 - SET domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ZKK - X-ray MuPIT 2BQZ - X-ray MuPIT 3F9W - X-ray MuPIT 3F9X - X-ray MuPIT 3F9Y - X-ray MuPIT 3F9Z - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NQR1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002039 p53 binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0016278 lysine N-methyltransferase activity
GO:0016279 protein-lysine N-methyltransferase activity
GO:0016740 transferase activity
GO:0018024 histone-lysine N-methyltransferase activity
GO:0042799 histone methyltransferase activity (H4-K20 specific)

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007049 cell cycle
GO:0018026 peptidyl-lysine monomethylation
GO:0032259 methylation
GO:0034770 histone H4-K20 methylation
GO:0034968 histone lysine methylation
GO:0043516 regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051301 cell division
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC050346 - Homo sapiens SET domain containing (lysine methyltransferase) 8, mRNA (cDNA clone MGC:51149 IMAGE:4838030), complete cds.
AK292645 - Homo sapiens cDNA FLJ75818 complete cds, highly similar to Homo sapiens PR/SET domain containing protein 8 (SET8), mRNA.
JD175769 - Sequence 156793 from Patent EP1572962.
AY102937 - Homo sapiens SET domain-containing protein 8 (SET8) mRNA, complete cds.
JD346879 - Sequence 327903 from Patent EP1572962.
AB464199 - Synthetic construct DNA, clone: pF1KB6466, Homo sapiens SETD8 gene for SET domain containing (lysine methyltransferase) 8, without stop codon, in Flexi system.
AY064546 - Homo sapiens H4-K20-specific histone methyltransferase SET7 mRNA, complete cds.
HQ448034 - Synthetic construct Homo sapiens clone IMAGE:100071409; CCSB010598_02 SET domain containing (lysine methyltransferase) 8 (SETD8) gene, encodes complete protein.
KJ900696 - Synthetic construct Homo sapiens clone ccsbBroadEn_10090 SETD8 gene, encodes complete protein.
HQ259683 - Homo sapiens H4K20-specific histone methyltransferase splice variant Set8b (SETD8) mRNA, complete cds, alternatively spliced.
JD379308 - Sequence 360332 from Patent EP1572962.
JD396777 - Sequence 377801 from Patent EP1572962.
JD287540 - Sequence 268564 from Patent EP1572962.
JD491036 - Sequence 472060 from Patent EP1572962.
JD454410 - Sequence 435434 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00310 - Lysine degradation

Reactome (by CSHL, EBI, and GO)

Protein Q9NQR1 (Reactome details) participates in the following event(s):

R-HSA-2301205 SETD8 monomethylates histone H4
R-HSA-5423038 SETD8 (KMT5A) methylates lysine-21 of histone H4 (H4K20)
R-HSA-6805740 SETD8 methylates TP53
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-6804760 Regulation of TP53 Activity through Methylation
R-HSA-68875 Mitotic Prophase
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-68886 M Phase
R-HSA-4839726 Chromatin organization
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-212436 Generic Transcription Pathway
R-HSA-1640170 Cell Cycle
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9D0, ENST00000402868.1, ENST00000402868.2, ENST00000402868.3, ENST00000402868.4, ENST00000402868.5, ENST00000402868.6, ENST00000402868.7, NR_136910, PRSET7, Q86W83, Q8TD09, Q9NQR1, SET07, SET8, SETD8, SETD8_HUMAN, uc001uew.1, uc001uew.2, uc001uew.3, uc001uew.4, uc001uew.5
UCSC ID: ENST00000402868.8
RefSeq Accession: NM_020382
Protein: Q9NQR1 (aka SETD8_HUMAN)
CCDS: CCDS9247.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.