Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84148
Gene name Gene Name - the full gene name approved by the HGNC.
Lysine acetyltransferase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KAT8
Synonyms (NCBI Gene) Gene synonyms aliases
LIGOWS, MOF, MYST1, ZC2HC8, hMOF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIGOWS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0000776 Component Kinetochore IEA
GO:0003712 Function Transcription coregulator activity IBA 21873635
GO:0004402 Function Histone acetyltransferase activity IDA 11742995
GO:0005515 Function Protein binding IPI 11965546, 15960975, 16601686, 22020126, 30224647
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609912 17933 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
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30617256
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
31794431
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31794431
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy, Hypertrophic obstructive cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
27768893
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 27768893 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 27768893 ClinVar
Myocardial infarction Myocardial Failure 27768893 ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
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