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KMT5C lysine methyltransferase 5C [ Homo sapiens (human) ]

Gene ID: 84787, updated on 25-Nov-2021

Summary

Official Symbol
KMT5Cprovided by HGNC
Official Full Name
lysine methyltransferase 5Cprovided by HGNC
Primary source
HGNC:HGNC:28405
See related
Ensembl:ENSG00000133247 MIM:613198
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SUV420H2; Suv4-20h2
Summary
SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
Expression
Ubiquitous expression in bone marrow (RPKM 1.9), placenta (RPKM 1.5) and 25 other tissues See more
Orthologs
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Genomic context

See KMT5C in Genome Data Viewer
Location:
19q13.42
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55339876..55348121)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55851244..55859489)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HSPA (Hsp70) binding protein 1 Neighboring gene BR serine/threonine kinase 1 Neighboring gene transmembrane protein 150B Neighboring gene cytochrome c oxidase subunit 6B2 Neighboring gene golgi associated RAB2 interactor family member 5B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2705, FLJ51466, FLJ98627

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IEA
Inferred from Electronic Annotation
more info
 
enables histone methyltransferase activity (H4-K20 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone methyltransferase activity (H4-K20 specific) IDA
Inferred from Direct Assay
more info
PubMed 
enables histone methyltransferase activity (H4-K20 specific) IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in histone H4-K20 dimethylation IEA
Inferred from Electronic Annotation
more info
 
involved_in histone H4-K20 trimethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in condensed chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
located_in heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in pericentric heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone-lysine N-methyltransferase KMT5C
Names
[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B
[histone H4]-lysine20 N-methyltransferase KMT5B
histone-lysine N-methyltransferase SUV420H2
lysine (K)-specific methyltransferase 5C
lysine N-methyltransferase 5C
lysine-specific methyltransferase 5C
su(var)4-20 homolog 2
suppressor of variegation 4-20 homolog 2
NP_116090.2
XP_005259395.1
XP_006723505.1
XP_011525717.1
XP_016882877.1
XP_024307510.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032701.4NP_116090.2  histone-lysine N-methyltransferase KMT5C

    See identical proteins and their annotated locations for NP_116090.2

    Status: VALIDATED

    Source sequence(s)
    AK308586, AW248704, BC044889
    Consensus CDS
    CCDS12922.1
    UniProtKB/Swiss-Prot
    Q86Y97
    Related
    ENSP00000255613.3, ENST00000255613.8
    Conserved Domains (1) summary
    cd19185
    Location:102243
    SET_KMT5C; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5C (KMT5C) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    55339876..55348121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027388.2XP_016882877.1  histone-lysine N-methyltransferase KMT5C isoform X3

    Conserved Domains (1) summary
    pfam00856
    Location:3154
    SET; SET domain
  2. XM_005259338.4XP_005259395.1  histone-lysine N-methyltransferase KMT5C isoform X2

    See identical proteins and their annotated locations for XP_005259395.1

    UniProtKB/Swiss-Prot
    Q86Y97
    UniProtKB/TrEMBL
    A0A0D9SF94
    Related
    ENSP00000486397.1, ENST00000630497.1
    Conserved Domains (1) summary
    smart00317
    Location:5109
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. XM_024451742.1XP_024307510.1  histone-lysine N-methyltransferase KMT5C isoform X2

    Conserved Domains (1) summary
    smart00317
    Location:5109
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. XM_011527415.3XP_011525717.1  histone-lysine N-methyltransferase KMT5C isoform X1

    See identical proteins and their annotated locations for XP_011525717.1

    UniProtKB/Swiss-Prot
    Q86Y97
    Conserved Domains (1) summary
    cd19185
    Location:102243
    SET_KMT5C; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5C (KMT5C) and similar proteins
  5. XM_006723442.3XP_006723505.1  histone-lysine N-methyltransferase KMT5C isoform X2

    See identical proteins and their annotated locations for XP_006723505.1

    UniProtKB/Swiss-Prot
    Q86Y97
    UniProtKB/TrEMBL
    A0A0D9SF94
    Conserved Domains (1) summary
    smart00317
    Location:5109
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
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