ACY1
entrez
95
canonical
uniprot
Q03154
canonical
ensembl
ENSG00000243989
resolver
ensp
ENSP00000384296
resolver
ensp
ENSP00000417056
resolver
ensp
ENSP00000417618
resolver
ensp
ENSP00000419262
resolver
ensp
ENSP00000490149
resolver
genesymbol
ACY1
resolver
genesymbol
HEL-S-5
resolver
genesymbol_syn
ACY1
resolver
hgnc
HGNC:177
resolver
uniprot
C9J6I6
resolver
uniprot
C9J9D8
resolver
uniprot
C9JWD4
resolver
uniprot
V9HWA0
resolver
uniprot_entry
ACY1_HUMAN
resolver
uniprot_entry
V9HWA0_HUMAN
resolver
uniprot_sec
C9J6I6
resolver
uniprot_sec
C9J9D8
resolver
uniprot_sec
C9JWD4
resolver
amino_acid_sequence
MTSKGPEEEHPSVTLFRQYLRIRTVQPKPDYGAAVAFFEETARQLGLGCQKVEVAPGYVVTVLTWPGTNPTLSSILLNSHTDVVPVFKEHWSHDPFEAFKDSEGYIYARGAQDMKCVSIQYLEAVRRLKVEGHRFPRTIHMTFVPDEEVGGHQGMELFVQRPEFHALRAGFALDEGIANPTDAFTVFYSERSPWWVRVTSTGRPGHASRFMEDTAAEKLHKVVNSILAFREKEWQRLQSNPHLKEGSVTSVNLTKLEGGVAYNVIPATMSASFDFRVAPDVDFKAFEEQLQSWCQAAGEGVTLEFAQKWMHPQVTPTDDSNPWWAAFSRVCKDMNLTLEPEIMPAATDNRYIRAVGVPALGFSPMNRTPVLLHDHDERLHEAVFLRGVDIYTRLLPALASVPALPSDS
uniprot
proteins
disease_involvement
DISEASE: Aminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. {ECO:0000269|PubMed:16274666, ECO:0000269|PubMed:16465618, ECO:0000269|PubMed:17562838, ECO:0000269|PubMed:21414403}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.14
uniprot
proteins
function
FUNCTION: Aminoacylase involved in the hydrolysis of N-acetylated and N-formylated amino acids. May act sequentially with APEH in the degradation of N-acylated peptides: APEH first cleaves N-acylaminoacids from N-acylated peptides, then ACY1 further hydrolyzes the N-acylaminoacid into free aminoacid and a carboxylate. {ECO:0000250|UniProtKB:Q6AYS7, ECO:0000269|PubMed:12933810}.
uniprot
proteins
mass_dalton
45885
uniprot
proteins
mutagenesis
MUTAGEN 80; /note="H->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 113; /note="D->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 147; /note="E->A,Q: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 147; /note="E->D: Decreased protein stability. Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 148; /note="E->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 175; /note="E->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 206; /note="H->N: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810"; MUTAGEN 373; /note="H->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:12933810
uniprot
proteins
protein_family
Peptidase M20A family
uniprot
proteins
pubmed
12933810
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16274666
uniprot
proteins
pubmed
16465618
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17562838
uniprot
proteins
pubmed
21414403
uniprot
proteins
pubmed
8357837
uniprot
proteins
pubmed
8394326
uniprot
proteins
sequence_length
408
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins