Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10524
Gene name	Lysine acetyltransferase 5
Gene symbol	KAT5
Synonyms (NCBI Gene)	ESA1HTATIPHTATIP1NEDFASBPLIPTIPTIP60ZC2HC5cPLA2
Chromosome	11
Chromosome location	11q13.1
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 nuclea

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039033	hsa-miR-766-3p	CLASH	23622248
MIRT1078687	hsa-miR-1203	CLIP-seq
MIRT1078688	hsa-miR-1225-3p	CLIP-seq
MIRT1078689	hsa-miR-1233	CLIP-seq
MIRT1078690	hsa-miR-1271	CLIP-seq
MIRT1078691	hsa-miR-1910	CLIP-seq
MIRT1078692	hsa-miR-370	CLIP-seq
MIRT1078693	hsa-miR-3907	CLIP-seq
MIRT1078694	hsa-miR-3940-3p	CLIP-seq
MIRT1078695	hsa-miR-4303	CLIP-seq
MIRT1078696	hsa-miR-96	CLIP-seq
MIRT1078697	hsa-miR-3065-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
ATF2	Repression	18397884
CLOCK	Unknown	18458078

140

Show/Hide all (140)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	26291311
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	17360565
GO:0000123	Component	Histone acetyltransferase complex	IEA
GO:0000132	Process	Establishment of mitotic spindle orientation	IDA	34608293
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27153538
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000729	Process	DNA double-strand break processing	IDA	15064416, 15790808, 26240375
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	26829474
GO:0000776	Component	Kinetochore	IEA
GO:0000785	Component	Chromatin	IDA	29335245, 33076429
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0000922	Component	Spindle pole	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003682	Function	Chromatin binding	IDA	29335245, 33076429
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	14966270
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	17360565
GO:0004402	Function	Histone acetyltransferase activity	IDA	18397884, 25301942, 29335245
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	IMP	17996965, 32822602
GO:0005515	Function	Protein binding	IDA	32832608
GO:0005515	Function	Protein binding	IPI	10966108, 15383276, 15647280, 16169070, 16230350, 17110330, 17360565, 17996965, 18087039, 18397884, 18451177, 18485870, 18509338, 19909775, 21157427, 21699783, 21936881, 21988832, 22081016, 22094252, 24525235, 25245946, 25416956, 26829474, 26945015, 27107012, 30704899, 31515488, 322
GO:0005634	Component	Nucleus	IDA	17996965, 24012345, 25301942
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14966270
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16387653
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	25301942
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IDA	32034146
GO:0006302	Process	Double-strand break repair	IDA	26438602
GO:0006302	Process	Double-strand break repair	TAS
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	27153538
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	19915674
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	34077757
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IDA	33076429
GO:0006974	Process	DNA damage response	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	18397884
GO:0010485	Function	Histone H4 acetyltransferase activity	IDA	10966108
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	30704899
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IDA	29765047
GO:0016407	Function	Acetyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018394	Process	Peptidyl-lysine acetylation	IDA	30704899
GO:0019432	Process	Triglyceride biosynthetic process	IDA	29765047
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IDA	14966270
GO:0031981	Component	Nuclear lumen	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	IDA	17360565
GO:0032777	Component	Piccolo histone acetyltransferase complex	IDA	14966270
GO:0033554	Process	Cellular response to stress	IEA
GO:0035092	Process	Sperm DNA condensation	IEA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0035267	Component	NuA4 histone acetyltransferase complex	IEA
GO:0035861	Component	Site of double-strand break	IDA	27153538
GO:0035973	Process	Aggrephagy	IDA	17580304, 22017874, 31857589
GO:0042149	Process	Cellular response to glucose starvation	IDA	34077757
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	18397884
GO:0043998	Function	Histone H2A acetyltransferase activity	IDA	10966108, 27153538
GO:0043999	Function	Histone H2AK5 acetyltransferase activity	IDA	26438602
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IDA	32817552
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	24835996
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	26291311
GO:0045663	Process	Positive regulation of myoblast differentiation	IDA	26291311
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17360565
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14966270
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	26291311, 33076429
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	29335245, 33076429
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23637611
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	14966270
GO:0046872	Function	Metal ion binding	IEA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IBA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IDA	33076429
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IDA	30409912
GO:0051726	Process	Regulation of cell cycle	IMP	27153538
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	17189187, 24835996, 25301942, 26291311, 26829474, 29765047, 30409912, 30704899, 31857589, 32034146, 32817552, 34077757
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0062033	Process	Positive regulation of mitotic sister chromatid segregation	IDA	26829474
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	37802024
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IDA	23637611
GO:0090398	Process	Cellular senescence	TAS
GO:0097431	Component	Mitotic spindle pole	IDA	34608293
GO:0106226	Function	Peptide 2-hydroxyisobutyryltransferase activity	IEA
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IDA	38961290
GO:0120300	Function	Peptide lactyltransferase (CoA-dependent) activity	IEA
GO:0140064	Function	Peptide crotonyltransferase activity	IDA	34608293
GO:0140064	Function	Peptide crotonyltransferase activity	IEA
GO:0140065	Function	Peptide butyryltransferase activity	IDA	29192674
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	17360565
GO:0140694	Process	Membraneless organelle assembly	IDA	29343546, 29507397
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	25301942
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IDA	25301942
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	10966108
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:1901701	Process	Cellular response to oxygen-containing compound	IEA
GO:1901985	Process	Positive regulation of protein acetylation	IDA	24012345
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	ISS
GO:1902425	Process	Positive regulation of attachment of mitotic spindle microtubules to kinetochore	IDA	30409912
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538, 32832608, 38961290
GO:1905337	Process	Positive regulation of aggrephagy	IDA	31857589
GO:1905691	Process	Lipid droplet disassembly	IDA	34077757
GO:1990166	Process	Protein localization to site of double-strand break	IDA	18411307, 18583988
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	32832608
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
601409	5275	ENSG00000172977

Q92993

Protein name

Histone acetyltransferase KAT5 (EC 2.3.1.48) (60 kDa Tat-interactive protein) (Tip60) (Histone acetyltransferase HTATIP) (HIV-1 Tat interactive protein) (Lysine acetyltransferase 5) (Protein 2-hydroxyisobutyryltransferase KAT5) (EC 2.3.1.-) (Protein acety

Protein function

Catalytic subunit of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H2A and H4 (PubMed:12776177, PubMed:14966270, PubMe

PDB

2EKO , 2OU2 , 4QQG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11717	Tudor-knot	7 → 65	RNA binding activity-knot of a chromodomain	Family
PF17772	zf-MYST	229 → 283	MYST family zinc finger domain	Domain
PF01853	MOZ_SAS	288 → 471	MOZ/SAS family	Family

Sequence

MAEVGEIIEGCRLPVLRRNQDNEDEWPLAEILSVKDISGRKLFYVHYIDFNKRLDEWVTH
ERLDLKKIQFPKKEAKTPTKNGLPGSRPGSPEREVPASAQASGKTLPIPVQITLRFNLPK
EREAIPGGEPDQPLSSSSCLQPNHRSTKRKVEVVSPATPVPSETAPASVFPQNGAARRAV
AAQPGRKRKSNCLGTDEDSQDSSDGIPSAPRMTGSLVSDRSHDDIVTRMKNIECIELGRH
RLKPWYFSPYPQELTTLPVLYLCEFCLKYGRSLKCLQRHLTKCDLRHPPGNEIYRKGTIS
FFEIDGRKNKSYSQNLCLLAKCFLDHKTLYYDTDPFLFYVMTEYDCKGFHIVGYFSKEKE
STEDYNVACILTLPPYQRRGYGKLLIEFSYELSKVEGKTGTPEKPLSDLGLLSYRSYWSQ
TILEILMGLKSESGERPQITINEISEITSIKKEDVISTLQYLNLINYYKGQYILTLSEDI
VDGHERAMLKRLLRIDSKCLHFTPKDWSKRGKW

Sequence length

513

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Spinocerebellar ataxia Human T-cell leukemia virus 1 infection		Formation of the beta-catenin:TCF transactivating complex DNA Damage/Telomere Stress Induced Senescence HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Estrogen-dependent gene expression

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Pathogenic	rs1857071943, rs1857215256, rs1857290083	RCV001269344 RCV001269345 RCV001269346

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial colorectal cancer	not provided	rs386834229	RCV000049343
KAT5-related disorder	Uncertain significance	rs146788368, rs372880133	RCV003420839 RCV003399579
Neurodevelopmental disorder	Uncertain significance	rs2495303016	RCV003389206

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acetyl Coa Carboxylase Deficiency	Associate	32822602
Acquired Immunodeficiency Syndrome	Associate	10544137
Aortic Aneurysm Abdominal	Associate	26767057
Arthritis Rheumatoid	Associate	30954385
Ataxia Telangiectasia	Associate	18625847
Breast Neoplasms	Associate	24947938, 26166158, 26512777, 27581651, 30846725, 33099470
Carcinogenesis	Associate	22110127, 31894128, 35705031
Carcinoma Hepatocellular	Associate	29174981, 35383533, 36308411
Carcinoma Renal Cell	Inhibit	37365518
Carcinoma Squamous Cell	Associate	31601649
Cerebellar Diseases	Associate	32822602
Colorectal Neoplasms	Inhibit	19846935
Colorectal Neoplasms	Associate	35876654, 35951156
Developmental Disabilities	Associate	32822602
Diabetes Mellitus	Associate	32099032
DNA Virus Infections	Associate	19783983, 25673709
Drug Related Side Effects and Adverse Reactions	Associate	23775119
Epilepsy	Associate	32822602
Facial Dysmorphism with Multiple Malformations	Associate	32822602
Fanconi Anemia	Associate	18263878, 26446986, 28634400
Gallbladder Neoplasms	Associate	24427328
Glioma	Associate	39361872
Hashimoto Disease	Inhibit	34272941
Hemangioma Cavernous Central Nervous System	Associate	32822602
Hypertension	Associate	32099032
Hypoxia	Associate	30385847
Infarction	Associate	24096875
Inflammation	Associate	30954385
Influenza Human	Stimulate	30409205
Intellectual Disability	Associate	32822602
Leukemia	Associate	22110127
Leukemia Myeloid Acute	Inhibit	22110127
Melanoma	Inhibit	22673729
Melanoma	Associate	25784655
Mesothelioma Malignant	Associate	26780987
Nasopharyngeal Carcinoma	Stimulate	28634400
Nasopharyngeal Carcinoma	Associate	31073033
Neoplasm Metastasis	Associate	19846935, 22673729, 37680145, 38242344
Neoplasms	Associate	15310756, 19846935, 23775119, 25544752, 27664947, 27743347, 29174981, 31671779, 35710139, 36245368, 39874873
Neoplasms	Inhibit	19150978, 19783983, 22673729, 23178490, 26512777, 29045464, 29174981, 31894128, 34558642
Neoplasms	Stimulate	33099470
Osteoarthritis	Inhibit	30385847
Osteoporosis	Inhibit	30385847
Osteoporosis	Associate	36937804
Ovarian Neoplasms	Associate	35283423
Prostatic Neoplasms	Associate	23056207, 28511652, 31671779
Prostatitis	Associate	31671779
Pulmonary Disease Chronic Obstructive	Associate	36937804
Sarcoma	Associate	35710139
Seizures	Associate	32822602
Sexual Dysfunction Physiological	Associate	24427328
Sleep Wake Disorders	Associate	32822602
Synovitis	Associate	30954385
Uterine Cervical Neoplasms	Inhibit	29045464

KAT5 (lysine acetyltransferase 5)