KAT8 (lysine acetyltransferase 8)

Gene

• Entrez ID: 84148
• Gene name: Lysine acetyltransferase 8
• Gene symbol: KAT8
• Synonyms (NCBI Gene): LIGOWS, MOF, MYST1, ZC2HC8, hMOF
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734680	hsa-miR-149-5p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	32973937
MIRT1078973	hsa-miR-3127-3p	CLIP-seq
MIRT1078974	hsa-miR-4685-5p	CLIP-seq
MIRT2019722	hsa-miR-4290	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0000776	Component	Kinetochore	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	16096638
GO:0003713	Function	Transcription coactivator activity	IDA	11742995
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	11742995, 11965546, 15960975, 16601686, 22020126, 30224647
GO:0005634	Component	Nucleus	IDA	28991411
GO:0005634	Component	Nucleus	IDA	11742995, 16227571, 31794431
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA	33657400
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005739	Component	Mitochondrion	IDA	27768893
GO:0005739	Component	Mitochondrion	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IEA
GO:0010485	Function	Histone H4 acetyltransferase activity	IDA	27382063
GO:0010506	Process	Regulation of autophagy	IDA	23863932
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	27292636
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IDA	27292636
GO:0014816	Process	Skeletal muscle satellite cell differentiation	ISS
GO:0016363	Component	Nuclear matrix	IEA
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0022008	Process	Neurogenesis	IDA	31794431
GO:0022008	Process	Neurogenesis	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030099	Process	Myeloid cell differentiation	IDA	11742995
GO:0031981	Component	Nuclear lumen	IEA
GO:0032480	Process	Negative regulation of type I interferon production	IEA
GO:0032480	Process	Negative regulation of type I interferon production	ISS
GO:0032481	Process	Positive regulation of type I interferon production	IDA	36603579
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0035166	Process	Post-embryonic hemopoiesis	ISS
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	20018852
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	27768893, 33657400
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	20018852
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	27768893, 33657400
GO:0044545	Component	NSL complex	IBA
GO:0044545	Component	NSL complex	IDA	19854137, 20018852, 27292636, 27768893, 33657400
GO:0044545	Component	NSL complex	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	15960975
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11742995
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11742995, 11965546, 21217699, 33657400
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISO
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0046872	Function	Metal ion binding	IEA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IBA
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IDA	20018852
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IDA	21217699, 27768893, 31794431, 33467728, 33657400, 33837287
GO:0046972	Function	Histone H4K16 acetyltransferase activity	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0050684	Process	Regulation of mRNA processing	IDA	37369679
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	33657400
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IDA	11965546
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IDA	17189187, 19854137, 27292636, 37369679
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IEA
GO:0061733	Function	Protein-lysine-acetyltransferase activity	ISS
GO:0061920	Function	Protein propionyltransferase activity	IDA	29321206
GO:0061920	Function	Protein propionyltransferase activity	IEA
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0072487	Component	MSL complex	IBA
GO:0072487	Component	MSL complex	IDA	20018852, 31794431, 33657400, 33837287
GO:0072487	Component	MSL complex	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140694	Process	Membraneless organelle assembly	IDA	22416126, 37474102
GO:1902726	Process	Positive regulation of skeletal muscle satellite cell differentiation	IEA
GO:1902726	Process	Positive regulation of skeletal muscle satellite cell differentiation	ISS
GO:1903108	Process	Regulation of mitochondrial transcription	IDA	27768893
GO:1903108	Process	Regulation of mitochondrial transcription	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 609912
• HGNC: 17933
• e!Ensembl: ENSG00000103510

Protein

• UniProt ID: Q9H7Z6
• Protein name: Histone acetyltransferase KAT8 (EC 2.3.1.48) (Lysine acetyltransferase 8) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1) (MYST-1) (Males-absent on the first protein homolog) (hMOF) (Protein acetyltransferase KAT8) (EC 2.3.1.-) (Protein propionyltransferase KA
• Protein function: Histone acetyltransferase that catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) or 'Lys-16' (H4K16ac), depending on the context (PubMed:12397079, PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:21217699, Pub
• PDB: 2GIV, 2PQ8, 2Y0M, 3QAH, 3TOA, 3TOB, 4DNC, 5H43, 5J8C, 5J8F, 5WCI, 6BA2, 6BA4, 6CT2, 6OIN, 6OIO, 6OIP, 6OIQ, 6OIR, 6OWH, 6OWI, 6PD8, 6PD9, 6PDA, 6PDB, 6PDC, 6PDD, 6PDE, 6PDF, 6PDG, 7CMR, 8W13
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11717	Tudor-knot	55 → 111	RNA binding activity-knot of a chromodomain	Family
  PF17772	zf-MYST	176 → 230	MYST family zinc finger domain	Domain
  PF01853	MOZ_SAS	235 → 412	MOZ/SAS family	Family

• Sequence:

  MAAQGAAAAVAAGTSGVAGEGEPGPGENAAAEGTAPSPGRVSPPTPARGEPEVTVEIGET
  YLCRRPDSTWHSAEVIQSRVNDQEGREEFYVHYVGFNRRLDEWVDKNRLALTKTVKDAVQ
  KNSEKYLSELAEQPERKITRNQKRKHDEINHVQKTYAEMDPTTAALEKEHEAITKVKYVD
  KIHIGNYEIDAWYFSPFPEDYGKQPKLWLCEYCLKYMKYEKSYRFHLGQCQWRQPPGKEI
  YRKSNISVYEVDGKDHKIYCQNLCLLAKLFLDHKTLYFDVEPFVFYILTEVDRQGAHIVG
  YFSKEKESPDGNNVACILTLPPYQRRGYGKFLIAFSYELSKLESTVGSPEKPLSDLGKLS
  YRSYWSWVLLEILRDFRGTLSIKDLSQMTSITQNDIISTLQSLNMVKYWKGQHVICVTPK
  LVEEHLKSAQYKKPPITVDSVCLKWAPPKHKQVKLSKK

• Sequence length: 458

Pathways

Reactome:

HATs acetylate histones

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Li-Ghorbani-Weisz-Hubshman syndrome	Likely pathogenic; Pathogenic	rs2143985614, rs2143966219, rs756211242, rs2057483219, rs748699921, rs2057538050, rs2057538160	RCV001800236 RCV002246218 RCV003482489 RCV001253776 RCV001253777 RCV001253778 RCV001253779	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KAT8-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	29777097, 38511601	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26767057		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	31794431		★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	31835672		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18058815, 29451722, 30351060		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40710353	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24898892, 38359291	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30215205	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24571482, 29226594		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23394073, 37365518	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30215205		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25483274		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	GENOMICS_ENGLAND_DG	31794431		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	31835672		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24452485		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24023782, 36849520, 38359291	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	27768893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23394073, 24452485		★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	31486467		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37328865	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29658832		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30598260		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31990345	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	33376138	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32839463	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31691527		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35191804	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31691527		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31691527		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31794431		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28541029		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	27768893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	27768893		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	30319748		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	27768893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	27768893		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31794431		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31794431		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29908908		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	23394073		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23394073	Associate	★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	27768893		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28202522		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28202522		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33376138	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	33376138	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31881804	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31990345	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29451722, 30351060		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30598260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24571482, 29226594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25483274		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24702180, 27268279, 30324413		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23638218, 28032505, 28202522, 28856780, 30952013, 31361291, 31389105, 31408319		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22199269		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18058815		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31293764		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28717171		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31047061		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	27768893		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22152480, 22199269, 24571482, 28032505, 28856780, 29584395, 30598260, 31293764, 31361291, 31660562, 31691527, 31850458		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37522749	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29777097	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24571482		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29404625		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25483274		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37328865, 37522749	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24702180, 27268279, 30324413		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27268279	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23394073, 24452485		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31378621		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24482440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24482440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	25732089, 26561011, 26682947		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35973998	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	38246894	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations