• Gene id: 159195

Gene Summary

• Gene Symbol: USP54   Gene   UCSC   Ensembl
• Aliases: C10orf29, bA137L10.3, bA137L10.4
• Gene name: ubiquitin specific peptidase 54
• Alternate names: inactive ubiquitin carboxyl-terminal hydrolase 54, inactive ubiquitin-specific peptidase 54, ubiquitin specific protease 54, ubiquitin specific proteinase 54,
• Gene location: 10q22.2 (73626905: 73497537)     Exons: 31     NC_000010.11

Protein Summary

• Protein general information: Q70EL1  
  • Name: Inactive ubiquitin carboxyl terminal hydrolase 54 (Inactive ubiquitin specific peptidase 54)
  • Length: 1684  
  • Mass: 187388
  • Tissue specificity: Weakly expressed in a few tissues. {ECO
• Sequence:

  MSWKRNYFSGGRGSVQGMFAPRSSTSIAPSKGLSNEPGQNSCFLNSALQVLWHLDIFRRSFRQLTTHKCMGDSCI
  FCALKGIFNQFQCSSEKVLPSDTLRSALAKTFQDEQRFQLGIMDDAAECFENLLMRIHFHIADETKEDICTAQHC
  ISHQKFAMTLFEQCVCTSCGATSDPLPFIQMVHYISTTSLCNQAICMLERREKPSPSMFGELLQNASTMGDLRNC
  PSNCGERIRIRRVLMNAPQIITIGLVWDSDHSDLAEDVIHSLGTCLKLGDLFFRVTDDRAKQSELYLVGMICYYG
  KHYSTFFFQTKIRKWMYFDDAHVKEIGPKWKDVVTKCIKGHYQPLLLLYADPQGTPVSTQDLPPQAEFQSYSRTC
  YDSEDSGREPSISSDTRTDSSTESYPYKHSHHESVVSHFSSDSQGTVIYNVENDSMSQSSRDTGHLTDSECNQKH
  TSKKGSLIERKRSSGRVRRKGDEPQASGYHSEGETLKEKQAPRNASKPSSSTNRLRDFKETVSNMIHNRPSLASQ
  TNVGSHCRGRGGDQPDKKPPRTLPLHSRDWEIESTSSESKSSSSSKYRPTWRPKRESLNIDSIFSKDKRKHCGYT
  QLSPFSEDSAKEFIPDEPSKPPSYDIKFGGPSPQYKRWGPARPGSHLLEQHPRLIQRMESGYESSERNSSSPVSL
  DAALPESSNVYRDPSAKRSAGLVPSWRHIPKSHSSSILEVDSTASMGGWTKSQPFSGEEISSKSELDELQEEVAR
  RAQEQELRRKREKELEAAKGFNPHPSRFMDLDELQNQGRSDGFERSLQEAESVFEESLHLEQKGDCAAALALCNE
  AISKLRLALHGASCSTHSRALVDKKLQISIRKARSLQDRMQQQQSPQQPSQPSACLPTQAGTLSQPTSEQPIPLQ
  VLLSQEAQLESGMDTEFGASSFFHSPASCHESHSSLSPESSAPQHSSPSRSALKLLTSVEVDNIEPSAFHRQGLP
  KAPGWTEKNSHHSWEPLDAPEGKLQGSRCDNSSCSKLPPQEGRGIAQEQLFQEKKDPANPSPVMPGIATSERGDE
  HSLGCSPSNSSAQPSLPLYRTCHPIMPVASSFVLHCPDPVQKTNQCLQGQSLKTSLTLKVDRGSEETYRPEFPST
  KGLVRSLAEQFQRMQGVSMRDSTGFKDRSLSGSLRKNSSPSDSKPPFSQGQEKGHWPWAKQQSSLEGGDRPLSWE
  ESTEHSSLALNSGLPNGETSSGGQPRLAEPDIYQEKLSQVRDVRSKDLGSSTDLGTSLPLDSWVNITRFCDSQLK
  HGAPRPGMKSSPHDSHTCVTYPERNHILLHPHWNQDTEQETSELESLYQASLQASQAGCSGWGQQDTAWHPLSQT
  GSADGMGRRLHSAHDPGLSKTSTAEMEHGLHEARTVRTSQATPCRGLSRECGEDEQYSAENLRRISRSLSGTVVS
  EREEAPVSSHSFDSSNVRKPLETGHRCSSSSSLPVIHDPSVFLLGPQLYLPQPQFLSPDVLMPTMAGEPNRLPGT
  SRSVQQFLAMCDRGETSQGAKYTGRTLNYQSLPHRSRTDNSWAPWSETNQHIGTRFLTTPGCNPQLTYTATLPER
  SKGLQVPHTQSWSDLFHSPSHPPIVHPVYPPSSSLHVPLRSAWNSDPVPGSRTPGPRRVDMPPDDDWRQSSYASH
  SGHRRTVGEGFLFVLSDAPRREQIRARVLQHSQW

• Structural information:
  • Protein Domains: (31..35-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR040142  IPR028889  
  • Prosite: PS50235
  • STRING: ENSP00000345216
• Other Databases: GeneCards:  USP54  Malacards:  USP54

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq