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KMT5A lysine methyltransferase 5A [ Homo sapiens (human) ]

Gene ID: 387893, updated on 7-Jun-2020

Summary

Official Symbol
KMT5Aprovided by HGNC
Official Full Name
lysine methyltransferase 5Aprovided by HGNC
Primary source
HGNC:HGNC:29489
See related
Ensembl:ENSG00000183955 MIM:607240
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SET8; SET07; SETD8; PR-Set7; PR/SET07
Summary
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]
Expression
Ubiquitous expression in prostate (RPKM 17.6), esophagus (RPKM 16.8) and 25 other tissues See more
Orthologs

Genomic context

See KMT5A in Genome Data Viewer
Location:
12q24.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123384132..123409353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123868704..123893900)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene strawberry notch homolog 1 Neighboring gene SBNO1 antisense RNA 1 Neighboring gene microRNA 8072 Neighboring gene Rab interacting lysosomal protein like 2 Neighboring gene COP9 signalosome subunit 5 pseudogene 2

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

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
histone methyltransferase activity (H4-K20 specific) TAS
Traceable Author Statement
more info
 
histone-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
histone H4-K20 methylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-lysine monomethylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
N-lysine methyltransferase KMT5A
Names
H4-K20-HMTase KMT5A
H4-K20-HMTase SETD8
H4-K20-specific histone methyltransferase
H4K20-specific histone methyltransferase splice variant Set8b
N-lysine methyltransferase SETD8
PR/SET domain containing protein 8
PR/SET domain-containing protein 07
SET domain containing (lysine methyltransferase) 8
SET domain-containing protein 8
histone-lysine N-methyltransferase KMT5A
histone-lysine N-methyltransferase SETD8
lysine (K)-specific methyltransferase 5A
lysine N-methyltransferase 5A
lysine-specific methylase 5A
NP_001311433.1
NP_001311434.1
NP_001311435.1
NP_001354315.1
NP_001354317.1
NP_001354318.1
NP_065115.3

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_050615.1 RefSeqGene

    Range
    5339..30576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324504.2NP_001311433.1  N-lysine methyltransferase KMT5A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC137767, AC145423
    UniProtKB/Swiss-Prot
    Q9NQR1
    UniProtKB/TrEMBL
    E3VVS3
    Conserved Domains (1) summary
    smart00317
    Location:194311
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. NM_001324505.2NP_001311434.1  N-lysine methyltransferase KMT5A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC137767, AC145423
    UniProtKB/Swiss-Prot
    Q9NQR1
    Conserved Domains (1) summary
    smart00317
    Location:167284
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  3. NM_001324506.1NP_001311435.1  N-lysine methyltransferase KMT5A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 8, encodes isoform 4.
    Source sequence(s)
    AC137767, AC145423, BC050346
    UniProtKB/Swiss-Prot
    Q9NQR1
    Conserved Domains (1) summary
    smart00317
    Location:116233
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  4. NM_001367386.1NP_001354315.1  N-lysine methyltransferase KMT5A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC137767, AC145423, BC050346
    Related
    ENSP00000332995.5, ENST00000330479.8
  5. NM_001367388.1NP_001354317.1  N-lysine methyltransferase KMT5A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC137767, AC145423, BC050346
  6. NM_001367389.1NP_001354318.1  N-lysine methyltransferase KMT5A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 4, encodes isoform 4.
    Source sequence(s)
    AC137767, AC145423, BC050346
  7. NM_020382.7NP_065115.3  N-lysine methyltransferase KMT5A isoform 1

    See identical proteins and their annotated locations for NP_065115.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC137767, AC145423
    Consensus CDS
    CCDS9247.1
    UniProtKB/Swiss-Prot
    Q9NQR1
    Related
    ENSP00000384629.3, ENST00000402868.8
    Conserved Domains (1) summary
    smart00317
    Location:224341
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

RNA

  1. NR_136910.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC137767, AC145423

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    123384132..123409353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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