KAT5 lysine acetyltransferase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KAT5provided by HGNC
Official Full Name: lysine acetyltransferase 5provided by HGNC
Primary source: HGNC:HGNC:5275
See related: Ensembl:ENSG00000172977 MIM:601409; AllianceGenome:HGNC:5275
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: TIP; ESA1; PLIP; TIP60; cPLA2; HTATIP; ZC2HC5; HTATIP1; NEDFASB
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]
Expression: Ubiquitous expression in testis (RPKM 21.5), thyroid (RPKM 20.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65712018..65719604)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65706411..65713762)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65479723..65487075)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPIN1 facilitates chemoresistance and HR repair by promoting Tip60 binding to H3K9me3.
Title: SPIN1 facilitates chemoresistance and HR repair by promoting Tip60 binding to H3K9me3.
TIP60 acetylation of Bub1 regulates centromeric H2AT120 phosphorylation for faithful chromosome segregation.
Title: TIP60 acetylation of Bub1 regulates centromeric H2AT120 phosphorylation for faithful chromosome segregation.
The Tudor-knot Domain of KAT5 Regulates Nucleosomal Substrate Acetylation.
Title: The Tudor-knot Domain of KAT5 Regulates Nucleosomal Substrate Acetylation.
TIP60 is required for tumorigenesis in non-small cell lung cancer.
Title: TIP60 is required for tumorigenesis in non-small cell lung cancer.
Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
Title: Acetylation of Nup62 by TIP60 ensures accurate chromosome segregation in mitosis.
Investigation of mRNA Expression Levels of Tip60 and Related DNA Repair Genes in Molecular Subtypes of Breast Cancer.
Title: Investigation of mRNA Expression Levels of Tip60 and Related DNA Repair Genes in Molecular Subtypes of Breast Cancer.
A balancing act: interactions within NuA4/TIP60 regulate picNuA4 function in Saccharomyces cerevisiae and humans.
Title: A balancing act: interactions within NuA4/TIP60 regulate picNuA4 function in Saccharomyces cerevisiae and humans.
Regulation of UHRF1 acetylation by TIP60 is important for colon cancer cell proliferation.
Title: Regulation of UHRF1 acetylation by TIP60 is important for colon cancer cell proliferation.
Loss of TIP60 (KAT5) abolishes H2AZ lysine 7 acetylation and causes p53, INK4A, and ARF-independent cell cycle arrest.
Title: Loss of TIP60 (KAT5) abolishes H2AZ lysine 7 acetylation and causes p53, INK4A, and ARF-independent cell cycle arrest.
TIP60 acts as a regulator of genes involved in filopodia formation and cell migration during wound healing.
Title: TIP60 acts as a regulator of genes involved in filopodia formation and cell migration during wound healing.

Submit: New GeneRIF Correction See all GeneRIFs (174)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities MedGen: C5436821 OMIM: 619103 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Reduced levels of Tip60 by HIV-1 Tat is sufficient to restore the effectiveness of antiviral drug maribivar to inhibit beta-herpes virus human cytomegalovirus	PubMed
	tat	HIV-1 Tat forms a quaternary complex with Tip60, Plk1, and cyclin B1 to inhibit Plk1-mediated phosphorylation of cyclin B1 at Ser133 position	PubMed
	tat	HIV-1 Tat induces the polyubiquitination and degradation of Tip60 through p300/CBP-associated E4-type ubiquitin-ligase activity, which results in a dramatic impairment of the Tip60-dependent apoptotic cell response to DNA damage	PubMed
	tat	Tip60 inhibits HIV-1 Tat activation of the HIV-1 LTR promoter in Jurkat cells	PubMed
	tat	Tip60 enhances HIV-1 Tat activation of the HIV-1 LTR promoter in HeLa cells	PubMed
	tat	HIV-1 Tat inhibits Tip60 histone-acetyltransferase activity and abolishes Tip60-dependent transcriptional activity of the Mn-SOD promoter	PubMed
	tat	Tip60 is a nuclear histone acetyltransferase that binds to the N-terminal 31 amino acids of HIV-1 Tat	PubMed
matrix	gag	HIV-1 MA downregulates KAT5 gene expression in HepG2 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IB3011 (e-PCR)
- UniSTS:46906

G59731 (e-PCR)
- UniSTS:137029

WI-17347 (e-PCR)
- UniSTS:80455

STS-U40989 (e-PCR)
- UniSTS:64845

RH99016 (e-PCR)
- UniSTS:86350

D1S1423 (e-PCR)
- UniSTS:149619

NoName (e-PCR)
- UniSTS:483047

HSC0AE062 (e-PCR)
- UniSTS:47861

RH18259 (e-PCR)
- UniSTS:56059

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables acetyltransferase activity	TAS Traceable Author Statement more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2A acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AK5 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H4 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H4K16 acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H4K16 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptide 2-hydroxyisobutyryltransferase activity	IEA Inferred from Electronic Annotation more info
enables peptide butyryltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide crotonyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide-lysine-N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair-dependent chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair-dependent chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	TAS Traceable Author Statement more info
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair	TAS Traceable Author Statement more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of mitotic spindle orientation	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_positive_effect lipid droplet disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-2 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-lysine acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of aggrephagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of attachment of mitotic spindle microtubules to kinetochore	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitotic sister chromatid segregation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of triglyceride biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of hematopoietic stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in sperm DNA condensation	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Swr1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	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
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
part_of piccolo histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: histone acetyltransferase KAT5

Names: 60 kDa Tat-interactive protein; HIV-1 Tat interactive protein, 60kDa; K(lysine) acetyltransferase 5; K-acetyltransferase 5; Tat interacting protein, 60kDa; cPLA(2)-interacting protein; cPLA2 interacting protein; histone acetyltransferase HTATIP; protein 2-hydroxyisobutyryltransferase KAT5; protein acetyltransferase KAT5; protein crotonyltransferase KAT5

NP_001193762.1

EC 2.3.1.48

NP_006379.2

EC 2.3.1.48

NP_874368.1

EC 2.3.1.48

NP_874369.1

EC 2.3.1.48

XP_006718484.1

EC 2.3.1.48

XP_047282208.1

EC 2.3.1.48

XP_047282209.1

EC 2.3.1.48

XP_054223442.1

EC 2.3.1.48

XP_054223443.1

EC 2.3.1.48

XP_054223444.1

EC 2.3.1.48

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.

Genomic

NG_033057.1 RefSeqGene

Range

5251..12603

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206833.2 → NP_001193762.1 histone acetyltransferase KAT5 isoform 4

See identical proteins and their annotated locations for NP_001193762.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1.

Source sequence(s)

AK304664, BC013211, BU737532

Consensus CDS

CCDS55771.1

UniProtKB/TrEMBL

Q59EJ8

Related

ENSP00000434765.1, ENST00000530446.5

Conserved Domains (2) summary

PLN00104
Location:76 → 485

PLN00104; MYST -like histone acetyltransferase; Provisional

pfam11717
Location:40 → 98

Tudor-knot; RNA binding activity-knot of a chromodomain
NM_006388.4 → NP_006379.2 histone acetyltransferase KAT5 isoform 2

See identical proteins and their annotated locations for NP_006379.2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as alpha, lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), that has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BC064912, BU737532, DA043042

Consensus CDS

CCDS31610.1

UniProtKB/Swiss-Prot

B4E3C7, C9JL99, O95624, Q13430, Q17RW5, Q561W3, Q6GSE8, Q92993, Q9BWK7

UniProtKB/TrEMBL

B2R8A7

Related

ENSP00000366245.3, ENST00000377046.7

Conserved Domains (2) summary

PLN00104
Location:43 → 504

PLN00104; MYST -like histone acetyltransferase; Provisional

pfam11717
Location:7 → 65

Tudor-knot; RNA binding activity-knot of a chromodomain
NM_182709.3 → NP_874368.1 histone acetyltransferase KAT5 isoform 3

See identical proteins and their annotated locations for NP_874368.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as beta, lacks two alternate in-frame segments, compared to variant 1, resulting in a shorter protein (isoform 3), that has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

BC000166, BU737532, DB003934

Consensus CDS

CCDS8109.1

UniProtKB/TrEMBL

Q59EJ8

Related

ENSP00000344955.4, ENST00000352980.8

Conserved Domains (2) summary

PLN00104
Location:43 → 452

PLN00104; MYST -like histone acetyltransferase; Provisional

pfam11717
Location:7 → 65

Tudor-knot; RNA binding activity-knot of a chromodomain
NM_182710.3 → NP_874369.1 histone acetyltransferase KAT5 isoform 1

See identical proteins and their annotated locations for NP_874369.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1).

Source sequence(s)

BC013211, BU737532, DB103287

Consensus CDS

CCDS8110.1

UniProtKB/TrEMBL

B2R8A7

Related

ENSP00000340330.4, ENST00000341318.9

Conserved Domains (2) summary

PLN00104
Location:76 → 537

PLN00104; MYST -like histone acetyltransferase; Provisional

pfam11717
Location:40 → 98

Tudor-knot; RNA binding activity-knot of a chromodomain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

65712018..65719604

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426253.1 → XP_047282209.1 histone acetyltransferase KAT5 isoform X3
XM_006718421.4 → XP_006718484.1 histone acetyltransferase KAT5 isoform X1

See identical proteins and their annotated locations for XP_006718484.1

UniProtKB/TrEMBL

B2R8A7

Conserved Domains (2) summary

PLN00104
Location:43 → 513

PLN00104; MYST -like histone acetyltransferase; Provisional

pfam11717
Location:7 → 65

Tudor-knot; RNA binding activity-knot of a chromodomain
XM_047426252.1 → XP_047282208.1 histone acetyltransferase KAT5 isoform X2