KMT5A
N-lysine methyltransferase KMT5A
Also known as: KMT5A_HUMAN, PR-Set7, SET07, SET8, SETD8
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NQR1
- Gene
- KMT5A
- Ensembl
- ENSG00000183955
- Chromosome
- 12
- Canonical length
- 393 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
393 residues, UniProt reviewed canonical sequence.
>Q9NQR1|KMT5A
1 MGEGGAAAAL VAAAAAAAAA AAAVVAGQRR RRLGRRARCH GPGRAAGGKM SKPCAVEAAA
61 AAVAATAPGP EMVERRGPGR PRTDGENVFT GQSKIYSYMS PNKCSGMRFP LQEENSVTHH
121 EVKCQGKPLA GIYRKREEKR NAGNAVRSAM KSEEQKIKDA RKGPLVPFPN QKSEAAEPPK
181 TPPSSCDSTN AAIAKQALKK PIKGKQAPRK KAQGKTQQNR KLTDFYPVRR SSRKSKAELQ
241 SEERKRIDEL IESGKEEGMK IDLIDGKGRG VIATKQFSRG DFVVEYHGDL IEITDAKKRE
301 ALYAQDPSTG CYMYYFQYLS KTYCVDATRE TNRLGRLINH SKCGNCQTKL HDIDGVPHLI
361 LIASRDIAAG EELLYDYGDR SKASIEAHPW LKHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KMT5A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 48 nTPM
- bone marrow: 37 nTPM
- blood vessel: 35 nTPM
- prostate: 35 nTPM
- skin: 33 nTPM
- vagina: 30 nTPM
Single-cell type
- erythrocyte progenitors: 136 nCPM
- smooth muscle cells: 91 nCPM
- esophageal apical cells: 86 nCPM
- suprabasal keratinocytes: 81 nCPM
- ocular epithelial cells: 71 nCPM
- basal keratinocytes: 56 nCPM
Immune cell
- eosinophil: 4.3 nTPM
- MAIT T-cell: 2.7 nTPM
- basophil: 2.3 nTPM
- NK-cell: 2.3 nTPM
- intermediate monocyte: 2.1 nTPM
- memory CD8 T-cell: 2.1 nTPM
Brain region
- cerebral cortex: 28 nTPM
- white matter: 26 nTPM
- thalamus: 24 nTPM
- pons: 24 nTPM
- midbrain: 23 nTPM
- amygdala: 23 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.99
- DepMap mean gene effect
- -0.69
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- mitotic chromosome condensation
- negative regulation of DNA-templated transcription
- negative regulation of double-strand break repair via homologous recombination
- negative regulation of transcription by RNA polymerase II
- peptidyl-lysine monomethylation
- regulation of DNA damage response, signal transduction by p53 class mediator
- regulation of signal transduction by p53 class mediator
- regulation of transcription by RNA polymerase II
Molecular functions
- histone H4 methyltransferase activity
- histone H4K20 methyltransferase activity
- histone H4K20 monomethyltransferase activity
- histone methyltransferase activity
- lysine N-methyltransferase activity
- protein-lysine N-methyltransferase activity
- transcription corepressor activity
Cellular components
- chromatin
- cytosol
- nucleoplasm
- nucleus
- polytene chromosome
Protein domainsUniProt · Pfam · InterPro
- SET domain
- SET domain superfamily
- SET domain
- N-lysine methyltransferase KMT5A-like
- N-lysine methyltransferase KMT5A-like, SET domain
- Histone-lysine N-methyltransferase KMT5A
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KMT5A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KMT5A as an antibody target. Whether an autoantibody or antibody against KMT5A could matter depends on whether native KMT5A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KMT5A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KMT5A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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