KAT5 lysine acetyltransferase 5
Gene ID: 10524, updated on 26-Mar-2024Gene type: protein coding
Also known as: TIP; ESA1; PLIP; TIP60; cPLA2; HTATIP; ZC2HC5; HTATIP1; NEDFASB
- See all available tests in GTR for this gene
- Go to complete Gene record for KAT5
- Go to Variation Viewer for KAT5 variants
Summary
The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | See labs |
New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 11q13.1
- Sequence:
- Chromosome: 11; NC_000011.10 (65712018..65719604)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for KAT5 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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