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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84148
Gene name	Lysine acetyltransferase 8
Gene symbol	KAT8
Synonyms (NCBI Gene)	LIGOWSMOFMYST1ZC2HC8hMOF
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

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734680	hsa-miR-149-5p	Luciferase reporter assayWestern blottingqRT-PCRELISA	32973937
MIRT1078973	hsa-miR-3127-3p	CLIP-seq
MIRT1078974	hsa-miR-4685-5p	CLIP-seq
MIRT2019722	hsa-miR-4290	CLIP-seq

Show/Hide all (87)

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

MIM	HGNC	e!Ensembl
609912	17933	ENSG00000103510

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

Interactions

View interactions

	Reactome
			HATs acetylate histones

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Li-Ghorbani-Weisz-Hubshman syndrome	Likely pathogenic; Pathogenic	rs2143985614, rs2143966219, rs756211242, rs2057483219, rs748699921, rs2057538050, rs2057538160	RCV001800236 RCV002246218 RCV003482489 RCV001253776 RCV001253777 RCV001253778 RCV001253779

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs17855606	RCV005937175
Cervical cancer	Likely benign	rs150400146	RCV005932614
Familial cancer of breast	Likely benign	rs150400146	RCV005932613
KAT8-related disorder	Uncertain significance; Likely benign; Benign	rs2544178702, rs2143995597, rs2544173087, rs185459113, rs17855606	RCV004731526 RCV003420902 RCV003944214 RCV003951443 RCV003981867
Malignant lymphoma, large B-cell, diffuse	Benign	rs17855606	RCV005937177
Uveal melanoma	Benign	rs17855606	RCV005937176

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	29777097, 38511601
Aortic Aneurysm Abdominal	Associate	26767057
Breast Neoplasms	Associate	40710353
Carcinogenesis	Associate	24898892, 38359291
Carcinoma Basal Cell	Stimulate	30215205
Carcinoma Renal Cell	Inhibit	23394073, 37365518
Colorectal Neoplasms	Associate	24023782, 36849520, 38359291
Dementia	Associate	37328865
Drug Related Side Effects and Adverse Reactions	Associate	19732783
Endometrial Neoplasms	Associate	31990345
Fatty Liver	Associate	33376138
Fibrosis	Associate	33376138
Gallbladder Neoplasms	Associate	32839463
Glioblastoma	Associate	35191804
Inflammation	Associate	33376138
Kidney Neoplasms	Associate	23394073
Liver Failure	Associate	33376138
Liver Failure Acute	Associate	33376138
Lung Neoplasms	Associate	31881804
Lymphatic Metastasis	Stimulate	31990345
Neoplasm Metastasis	Inhibit	27292636
Neoplasms	Associate	18701507, 21321083, 22152480, 23394073, 23638218, 37240065
Neoplasms	Inhibit	27292636
Neoplasms	Stimulate	31990345
Neuroblastoma	Associate	37522749
Neurodegenerative Diseases	Associate	29777097
Parkinson Disease	Associate	37328865, 37522749
Prostatic Neoplasms	Associate	27268279
Triple Negative Breast Neoplasms	Associate	35973998
Uveal melanoma	Associate	38246894

KAT8 (lysine acetyltransferase 8)