• Gene id: 7375

Gene Summary

• Gene Symbol: USP4   Gene   UCSC   Ensembl
• Aliases: UNP, Unph
• Gene name: ubiquitin specific peptidase 4
• Alternate names: ubiquitin carboxyl-terminal hydrolase 4, deubiquitinating enzyme 4, ubiquitin carboxyl-terminal esterase 4, ubiquitin specific peptidase 4 (proto-oncogene), ubiquitin specific protease 4 (proto-oncogene), ubiquitin thioesterase 4, ubiquitin thiolesterase 4, ubiq,
• Gene location: 3p21.31 (49340052: 49277143)     Exons: 23     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum
• OMIM: 603486

Protein Summary

• Protein general information: Q13107  
  • Name: Ubiquitin carboxyl terminal hydrolase 4 (EC 3.4.19.12) (Deubiquitinating enzyme 4) (Ubiquitin thioesterase 4) (Ubiquitin specific processing protease 4) (Ubiquitous nuclear protein homolog)
  • Length: 963  
  • Mass: 108565
  • Tissue specificity: Overexpressed in small cell tumors and adenocarcinomas of the lung compared to wild-type lung (at protein level). Expressed in the hippocampal neurons. {ECO
• Sequence:

  MAEGGGCRERPDAETQKSELGPLMRTTLQRGAQWYLIDSRWFKQWKKYVGFDSWDMYNVGEHNLFPGPIDNSGLF
  SDPESQTLKEHLIDELDYVLVPTEAWNKLLNWYGCVEGQQPIVRKVVEHGLFVKHCKVEVYLLELKLCENSDPTN
  VLSCHFSKADTIATIEKEMRKLFNIPAERETRLWNKYMSNTYEQLSKLDNTVQDAGLYQGQVLVIEPQNEDGTWP
  RQTLQSKSSTAPSRNFTTSPKSSASPYSSVSASLIANGDSTSTCGMHSSGVSRGGSGFSASYNCQEPPSSHIQPG
  LCGLGNLGNTCFMNSALQCLSNTAPLTDYFLKDEYEAEINRDNPLGMKGEIAEAYAELIKQMWSGRDAHVAPRMF
  KTQVGRFAPQFSGYQQQDSQELLAFLLDGLHEDLNRVKKKPYLELKDANGRPDAVVAKEAWENHRLRNDSVIVDT
  FHGLFKSTLVCPECAKVSVTFDPFCYLTLPLPLKKDRVMEVFLVPADPHCRPTQYRVTVPLMGAVSDLCEALSRL
  SGIAAENMVVADVYNHRFHKIFQMDEGLNHIMPRDDIFVYEVCSTSVDGSECVTLPVYFRERKSRPSSTSSASAL
  YGQPLLLSVPKHKLTLESLYQAVCDRISRYVKQPLPDEFGSSPLEPGACNGSRNSCEGEDEEEMEHQEEGKEQLS
  ETEGSGEDEPGNDPSETTQKKIKGQPCPKRLFTFSLVNSYGTADINSLAADGKLLKLNSRSTLAMDWDSETRRLY
  YDEQESEAYEKHVSMLQPQKKKKTTVALRDCIELFTTMETLGEHDPWYCPNCKKHQQATKKFDLWSLPKILVVHL
  KRFSYNRYWRDKLDTVVEFPIRGLNMSEFVCNLSARPYVYDLIAVSNHYGAMGVGHYTAYAKNKLNGKWYYFDDS
  NVSLASEDQIVTKAAYVLFYQRRDDEFYKTPSLSSSGSSDGGTRPSSSQQGFGDDEACSMDTN

• Structural information:
  • Protein Domains: (11..12-)
    (/note="DUSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00613-)
    (142..22-)
    (/note="Ubiquitin-like-1)
    (/evidence="ECO:0000255-)
    (302..92-)
    (/note="USP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01035-)
    (483..57-)
    (/no-)
  • Interpro: IPR035927  IPR038765  IPR006615  IPR001394  IPR028135   IPR018200  IPR028889  
  • Prosite: PS51283 PS00972 PS00973 PS50235
  • PDB: 2Y6E 5CTR
  • PDBsum: 2Y6E 5CTR
  • STRING: ENSP00000265560
• Other Databases: GeneCards:  USP4  Malacards:  USP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0034394	protein localization to cell surface	IDA	biological process
GO:0031647	regulation of protein stability	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031685	adenosine receptor binding	IPI	molecular function
GO:0031397	negative regulation of protein ubiquitination	IMP	biological process
GO:0000244	spliceosomal tri-snRNP complex assembly	IMP	biological process
GO:0016579	protein deubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005764	lysosome	TAS	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray