Gene Gene information from NCBI Gene database.
Entrez ID 159195
Gene name Ubiquitin specific peptidase 54
Gene symbol USP54
Synonyms (NCBI Gene)
C10orf29bA137L10.3bA137L10.4
Chromosome 10
Chromosome location 10q22.2
miRNA miRNA information provided by mirtarbase database.
366
miRTarBase ID miRNA Experiments Reference
MIRT024483 hsa-miR-215-5p Microarray 19074876
MIRT026658 hsa-miR-192-5p Microarray 19074876
MIRT052169 hsa-let-7b-5p CLASH 23622248
MIRT035898 hsa-miR-1303 CLASH 23622248
MIRT1480360 hsa-miR-1193 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 36590171
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 16713569, 25416956, 32296183, 32353859, 32814053, 33060197, 33961781, 34819669, 35914814, 36217030
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q70EL1
Protein name Ubiquitin carboxyl-terminal hydrolase 54 (EC 3.4.19.12) (Ubiquitin-specific peptidase 54)
Protein function Deubiquitinase that specifically mediates 'Lys-63'-linked deubiquitination of substrates with a polyubiquitin chain composed of at least 3 ubiquitins (PubMed:39587316). Specifically recognizes ubiquitin chain in position S2 and catalyzes cleavag
PDB 8C61
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 31 349 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in a few tissues. {ECO:0000269|PubMed:14715245}.
Sequence
MSWKRNYFSGGRGSVQGMFAPRSSTSIAPSKGLSNEPGQNSCFLNSALQVLWHLDIFRRS
FRQLTTHKCMGDSCIFCALKGIFNQFQCSSEKVLPSDTLRSALAKTFQDEQRFQLGIMDD
AAECFENLLMRIHFHIADETKEDICTAQHCISHQKFAMTLFEQCVCTSCGATSDPLPFIQ
MVHYISTTSLCNQAICMLERREKPSPSMFGELLQNASTMGDLRNCPSNCGERIRIRRVLM
NAPQIITIGLVWDSDHSDLAEDVIHSLGTCLKLGDLFFRVTDDRAKQSELYLVGMICYYG
KHYSTFFFQTKIRKWMYFDDAHVKEIGPKWKDVVTKCIKGHYQPLLLLY
ADPQGTPVSTQ
DLPPQAEFQSYSRTCYDSEDSGREPSISSDTRTDSSTESYPYKHSHHESVVSHFSSDSQG
TVIYNVENDSMSQSSRDTGHLTDSECNQKHTSKKGSLIERKRSSGRVRRKGDEPQASGYH
SEGETLKEKQAPRNASKPSSSTNRLRDFKETVSNMIHNRPSLASQTNVGSHCRGRGGDQP
DKKPPRTLPLHSRDWEIESTSSESKSSSSSKYRPTWRPKRESLNIDSIFSKDKRKHCGYT
QLSPFSEDSAKEFIPDEPSKPPSYDIKFGGPSPQYKRWGPARPGSHLLEQHPRLIQRMES
GYESSERNSSSPVSLDAALPESSNVYRDPSAKRSAGLVPSWRHIPKSHSSSILEVDSTAS
MGGWTKSQPFSGEEISSKSELDELQEEVARRAQEQELRRKREKELEAAKGFNPHPSRFMD
LDELQNQGRSDGFERSLQEAESVFEESLHLEQKGDCAAALALCNEAISKLRLALHGASCS
THSRALVDKKLQISIRKARSLQDRMQQQQSPQQPSQPSACLPTQAGTLSQPTSEQPIPLQ
VLLSQEAQLESGMDTEFGASSFFHSPASCHESHSSLSPESSAPQHSSPSRSALKLLTSVE
VDNIEPSAFHRQGLPKAPGWTEKNSHHSWEPLDAPEGKLQGSRCDNSSCSKLPPQEGRGI
AQEQLFQEKKDPANPSPVMPGIATSERGDEHSLGCSPSNSSAQPSLPLYRTCHPIMPVAS
SFVLHCPDPVQKTNQCLQGQSLKTSLTLKVDRGSEETYRPEFPSTKGLVRSLAEQFQRMQ
GVSMRDSTGFKDRSLSGSLRKNSSPSDSKPPFSQGQEKGHWPWAKQQSSLEGGDRPLSWE
ESTEHSSLALNSGLPNGETSSGGQPRLAEPDIYQEKLSQVRDVRSKDLGSSTDLGTSLPL
DSWVNITRFCDSQLKHGAPRPGMKSSPHDSHTCVTYPERNHILLHPHWNQDTEQETSELE
SLYQASLQASQAGCSGWGQQDTAWHPLSQTGSADGMGRRLHSAHDPGLSKTSTAEMEHGL
HEARTVRTSQATPCRGLSRECGEDEQYSAENLRRISRSLSGTVVSEREEAPVSSHSFDSS
NVRKPLETGHRCSSSSSLPVIHDPSVFLLGPQLYLPQPQFLSPDVLMPTMAGEPNRLPGT
SRSVQQFLAMCDRGETSQGAKYTGRTLNYQSLPHRSRTDNSWAPWSETNQHIGTRFLTTP
GCNPQLTYTATLPERSKGLQVPHTQSWSDLFHSPSHPPIVHPVYPPSSSLHVPLRSAWNS
DPVPGSRTPGPRRVDMPPDDDWRQSSYASHSGHRRTVGEGFLFVLSDAPRREQIRARVLQ
HSQW
Sequence length 1684
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
USP54-related disorder Uncertain significance; Likely benign rs138141992, rs61761602, rs149339241, rs144497064 RCV003907335
RCV003939774
RCV003949268
RCV003922113
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28640357
Neoplasms Associate 34398824
Squamous Cell Carcinoma of Head and Neck Associate 34398824
Virus Diseases Associate 35654986