HYAL3
entrez
24142
canonical
uniprot
Q93015
canonical
ensembl
ENSG00000243477
resolver
ensp
ENSP00000346927
resolver
ensp
ENSP00000391893
resolver
ensp
ENSP00000410610
resolver
genesymbol
HYAL3
resolver
genesymbol
NAA80
resolver
genesymbol_syn
FUS2
resolver
genesymbol_syn
NAT6
resolver
hgnc
HGNC:30252
resolver
uniprot
A0A024R2Z7
resolver
uniprot
Q6IAP1
resolver
uniprot
Q93014
resolver
uniprot_entry
NAA80_HUMAN
resolver
uniprot_entry
Q6IAP1_HUMAN
resolver
uniprot_sec
A0A024R2Z7
resolver
uniprot_sec
Q93014
resolver
amino_acid_sequence
MELILSTSPAELTLDPACQPKLPLDSTCQPEMTFNPGPTELTLDPEHQPEETPAPSLAELTLEPVHRRPELLDACADLINDQWPRSRTSRLHSLGQSSDAFPLCLMLLSPHPTLEAAPVVVGHARLSRVLNQPQSLLVETVVVARALRGRGFGRRLMEGLEVFARARGFRKLHLTTHDQVHFYTHLGYQLGEPVQGLVFTSRRLPATLLNAFPTAPSPRPPRKAPNLTAQAAPRGPKGPPLPPPPPLPECLTISPPVPSGPPSKSLLETQYQNVRGRPIFWMEKDI
uniprot
proteins
disease_involvement
DISEASE: Auroneurodental syndrome (ANDS) [MIM:620830]: An autosomal recessive syndrome characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphism, developmental delay and mild proximal and axial muscle weakness. {ECO:0000269|PubMed:34805998}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively) (PubMed:29581253, PubMed:30028079). N-terminal acetylation of processed beta- and gamma-actin regulates actin filament depolymerization and elongation (PubMed:29581253). In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu (PubMed:29581253, PubMed:30028079). In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp (PubMed:10644992, PubMed:29581307). May act as a tumor suppressor (PubMed:10644992). {ECO:0000269|PubMed:10644992, ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29581307, ECO:0000269|PubMed:30028079}.
uniprot
proteins
mass_dalton
31445
uniprot
proteins
mutagenesis
MUTAGEN 83; /note="W->F: In NAA80mut; abolished acetyltransferase activity; when associated with Q-148, D-151 and F-183."; /evidence="ECO:0000269|PubMed:29581253"; MUTAGEN 148; /note="R->Q: In NAA80mut; abolished acetyltransferase activity; when associated with F-83, D-151 and F-183."; /evidence="ECO:0000269|PubMed:29581253"; MUTAGEN 151; /note="G->D: In NAA80mut; abolished acetyltransferase activity; when associated with F-83, Q-148 and F-183."; /evidence="ECO:0000269|PubMed:29581253"; MUTAGEN 183; /note="Y->F: In NAA80mut; abolished acetyltransferase activity; when associated with F-83, Q-148 and D-151."; /evidence="ECO:0000269|PubMed:29581253
uniprot
proteins
protein_family
Acetyltransferase family
uniprot
proteins
pubmed
10644992
uniprot
proteins
pubmed
11085536
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
29581253
uniprot
proteins
pubmed
29581307
uniprot
proteins
pubmed
30028079
uniprot
proteins
pubmed
34805998
uniprot
proteins
sequence_length
286
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10644992, ECO:0000269|PubMed:30028079}.
uniprot
proteins