AOPEP
entrez
84909
canonical
uniprot
Q8N6M6
canonical
ensembl
ENSG00000148120
resolver
ensp
ENSP00000277198
resolver
ensp
ENSP00000297979
resolver
ensp
ENSP00000364464
resolver
ensp
ENSP00000609151
resolver
ensp
ENSP00000653804
resolver
ensp
ENSP00000653805
resolver
ensp
ENSP00000714541
resolver
ensp
ENSP00000714542
resolver
ensp
ENSP00000792309
resolver
genesymbol
AOPEP
resolver
genesymbol_syn
C9orf3
resolver
genesymbol_syn
ONPEP
resolver
hgnc
HGNC:1361
resolver
uniprot
Q5T9B1
resolver
uniprot
Q5T9B3
resolver
uniprot
Q5T9B4
resolver
uniprot
Q8WUL6
resolver
uniprot
Q96M23
resolver
uniprot
Q96SS1
resolver
uniprot_entry
AMPO_HUMAN
resolver
uniprot_sec
Q5T9B1
resolver
uniprot_sec
Q5T9B3
resolver
uniprot_sec
Q5T9B4
resolver
uniprot_sec
Q8WUL6
resolver
uniprot_sec
Q96M23
resolver
uniprot_sec
Q96SS1
resolver
amino_acid_sequence
MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSIEEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKGEKDTSDKDGNHDNQEHASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVSEEFRNQIVRELVTLPANRWREQLDYYARCSQAPGCGELLFDTDTWSLQIRKTGAQTATDFPHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPINNRALFPCQEPPVAMSTWQATVRAAASFVVLMSGENSAKPTQLWEECSSWYYYVTMPMPASTFTIAVGCWTEMKMETWSSNDLATERPFSPSEANFRHVGVCSHMEYPCRFQNASATTQEIIPHRVFAPVCLTGACQETLLRLIPPCLSAAHSVLGAHPFSRLDVLIVPANFPSLGMASPHIMFLSQSILTGGNHLCGTRLCHEIAHAWFGLAIGARDWTEEWLSEGFATHLEDVFWATAQQLAPYEAREQQELRACLRWRRLQDEMQCSPEEMQVLRPSKDKTGHTSDSGASVIKHGLNPEKIFMQVHYLKGYFLLRFLAKRLGDETYFSFLRKFVHTFHGQLILSQDFLQMLLENIPEEKRLELSVENIYQDWLESSGIPKPLQRERRAGAECGLARQVRAEVTKWIGVNRRPRKRKRREKEEVFEKLLPDQLVLLLEHLLEQKTLSPRTLQSLQRTYHLQDQDAEVRHRWCELIVKHKFTKAYKSVERFLQEDQAMGVYLYGELMVSEDARQQQLARRCFERTKEQMDRSSAQVVAEMLF
uniprot
proteins
disease_involvement
DISEASE: Dystonia 31 (DYT31) [MIM:619565]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. {ECO:0000269|PubMed:34596301}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.11.-
uniprot
proteins
function
FUNCTION: Aminopeptidase which catalyzes the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. {ECO:0000250|UniProtKB:P15144}.
uniprot
proteins
mass_dalton
93572
uniprot
proteins
protein_family
Peptidase M1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15687497
uniprot
proteins
pubmed
30808004
uniprot
proteins
pubmed
34596301
uniprot
proteins
sequence_length
819
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:Q8BXQ6}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000250|UniProtKB:Q8BXQ6}.
uniprot
proteins