• Gene id: 7398

Gene Summary

• Gene Symbol: USP1   Gene   UCSC   Ensembl
• Aliases: UBP
• Gene name: ubiquitin specific peptidase 1
• Alternate names: ubiquitin carboxyl-terminal hydrolase 1, deubiquitinating enzyme 1, hUBP, ubiquitin specific processing protease 1, ubiquitin specific protease 1, ubiquitin thioesterase 1, ubiquitin thiolesterase 1,
• Gene location: 1p31.3 (62436303: 62451803)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused prec
• OMIM: 603478

Protein Summary

• Protein general information: O94782  
  • Name: Ubiquitin carboxyl terminal hydrolase 1 (EC 3.4.19.12) (Deubiquitinating enzyme 1) (hUBP) (Ubiquitin thioesterase 1) (Ubiquitin specific processing protease 1)
  • Length: 785  
  • Mass: 88,207
• Sequence:

  MPGVIPSESNGLSRGSPSKKNRLSLKFFQKKETKRALDFTDSQENEEKASEYRASEIDQVVPAAQSSPINCEKRE
  NLLPFVGLNNLGNTCYLNSILQVLYFCPGFKSGVKHLFNIISRKKEALKDEANQKDKGNCKEDSLASYELICSLQ
  SLIISVEQLQASFLLNPEKYTDELATQPRRLLNTLRELNPMYEGYLQHDAQEVLQCILGNIQETCQLLKKEEVKN
  VAELPTKVEEIPHPKEEMNGINSIEMDSMRHSEDFKEKLPKGNGKRKSDTEFGNMKKKVKLSKEHQSLEENQRQT
  RSKRKATSDTLESPPKIIPKYISENESPRPSQKKSRVKINWLKSATKQPSILSKFCSLGKITTNQGVKGQSKENE
  CDPEEDLGKCESDNTTNGCGLESPGNTVTPVNVNEVKPINKGEEQIGFELVEKLFQGQLVLRTRCLECESLTERR
  EDFQDISVPVQEDELSKVEESSEISPEPKTEMKTLRWAISQFASVERIVGEDKYFCENCHHYTEAERSLLFDKMP
  EVITIHLKCFAASGLEFDCYGGGLSKINTPLLTPLKLSLEEWSTKPTNDSYGLFAVVMHSGITISSGHYTASVKV
  TDLNSLELDKGNFVVDQMCEIGKPEPLNEEEARGVVENYNDEEVSIRVGGNTQPSKVLNKKNVEAIGLLGGQKSK
  ADYELYNKASNPDKVASTAFAENRNSETSDTTGTHESDRNKESSDQTGINISGFENKISYVVQSLKEYEGKWLLF
  DDSEVKVTEEKDFLNSLSPSTSPTSTPYLLFYKKL

• Structural information:
  • Protein Domains: USP. (81-785)
  • Interpro: IPR001394  IPR033815  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • CDD: cd02671
  • DIP: 53609
  • STRING: ENSP00000343526
• Other Databases: GeneCards:  USP1  Malacards:  USP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006282	regulation of DNA repair	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0035520	monoubiquitinated protein deubiquitination	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IMP	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006282	regulation of DNA repair	IDA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0035520	monoubiquitinated protein deubiquitination	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IMP	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006282	regulation of DNA repair	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0035520	monoubiquitinated protein deubiquitination	IMP	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process

Diseases

Associated diseases	References
Cancer (Adenocarcinoma)	GAD: 19690177
Cancer (breast)	GAD: 19536649
Non obstructive azoospermia	MIK: 25739334
Non-obstructive azoospermia	MIK: 25739334
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25739334	Non-obstructive azoospermia			1466 (757 NOA patients, 709 fertile males)	Male infertility	BRWD1 DNMT1 DNMT3B RNF17 UBR2 USP1 USP26 BRDT and MTHFR
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R