OTUD7A
entrez
161725
canonical
uniprot
Q8TE49
canonical
ensembl
ENSG00000169918
resolver
ensp
ENSP00000305926
resolver
ensp
ENSP00000453883
resolver
genesymbol
OTUD7A
resolver
genesymbol_syn
C15orf16
resolver
genesymbol_syn
CEZANNE2
resolver
genesymbol_syn
OTUD7
resolver
hgnc
HGNC:20718
resolver
uniprot
Q8IWK5
resolver
uniprot_entry
OTU7A_HUMAN
resolver
uniprot_sec
Q8IWK5
resolver
amino_acid_sequence
MVSSVLPNPTSAECWAALLHDPMTLDMDAVLSDFVRSTGAEPGLARDLLEGKNWDLTAALSDYEQLRQVHTANLPHVFNEGRGPKQPEREPQPGHKVERPCLQRQDDIAQEKRLSRGISHASSAIVSLARSHVASECNNEQFPLEMPIYTFQLPDLSVYSEDFRSFIERDLIEQATMVALEQAGRLNWWSTVCTSCKRLLPLATTGDGNCLLHAASLGMWGFHDRDLVLRKALYTMMRTGAEREALKRRWRWQQTQQNKEEEWEREWTELLKLASSEPRTHFSKNGGTGGGVDNSEDPVYESLEEFHVFVLAHILRRPIVVVADTMLRDSGGEAFAPIPFGGIYLPLEVPPNRCHCSPLVLAYDQAHFSALVSMEQRDQQREQAVIPLTDSEHKLLPLHFAVDPGKDWEWGKDDNDNARLAHLILSLEAKLNLLHSYMNVTWIRIPSETRAPLAQPESPTASAGEDVQSLADSLDSDRDSVCSNSNSNNGKNGKDKEKEKQRKEKDKTRADSVANKLGSFSKTLGIKLKKNMGGLGGLVHGKMGRANSANGKNGDSAERGKEKKAKSRKGSKEESGASASTSPSEKTTPSPTDKAAGASPAEKGGGPRGDAWKYSTDVKLSLNILRAAMQGERKFIFAGLLLTSHRHQFHEEMIGYYLTSAQERFSAEQEQRRRDAATAAAAAAAAAAATAKRPPRRPETEGVPVPERASPGPPTQLVLKLKERPSPGPAAGRAARAAAGGTASPGGGARRASASGPVPGRSPPAPARQSVIHVQASGARDEACAPAVGALRPCATYPQQNRSLSSQSYSPARAAALRTVNTVESLARAVPGALPGAAGTAGAAEHKSQTYTNGFGALRDGLEFADADAPTARSNGECGRGGPGPVQRRCQRENCAFYGRAETEHYCSYCYREELRRRREARGARP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia and seizures (NEDHS) [MIM:620790]: An autosomal recessive, severe disorder characterized by global developmental delay, language impairment, impaired intellectual development, hypotonia, and early-onset seizures. {ECO:0000269|PubMed:31997314, ECO:0000269|PubMed:33381903}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.19.12
uniprot
proteins
function
FUNCTION: Deubiquitinase, which cleaves 'Lys-11'-linked polyubiquitin chains. Might be required for PA28-20S proteasome assembly (Probable). {ECO:0000269|PubMed:20622874, ECO:0000269|PubMed:23827681, ECO:0000305|PubMed:31997314}.
uniprot
proteins
mass_dalton
100677
uniprot
proteins
protein_family
Peptidase C64 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20622874
uniprot
proteins
pubmed
23827681
uniprot
proteins
pubmed
31997314
uniprot
proteins
pubmed
33381903
uniprot
proteins
sequence_length
926
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
uniprot
proteins