USP1 - ubiquitin specific peptidase 1 Gene

Also Known as UBP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7398

About USP1

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:62,436,395-62,451,804 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues and 71 paralogues. Broad expression in testis (RPKM 29.9), bone marrow (RPKM 17.7) and 25 other tissues.

Summary

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 precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

USP1 Products (3)

mRNA Protein Name
NM_001017415.2 NP_001017415.1 ubiquitin carboxyl-terminal hydrolase 1
NM_001017416.2 NP_001017416.1 ubiquitin carboxyl-terminal hydrolase 1
NM_003368.5 NP_003359.3 ubiquitin carboxyl-terminal hydrolase 1
Molecular Function GO Annotation Evidence References Source
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
18082604 GOA
enables cysteine-type deubiquitinase activity IMP
IMP: Inferred from mutant phenotype
20129063 GOA
enables peptidase activity EXP
EXP: Inferred from Experiment
16531995 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18082604 GOA
Biological Process GO Annotation Evidence References Source
involved in monoubiquitinated protein deubiquitination IMP
IMP: Inferred from mutant phenotype
20129063 GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
37289831 GOA
involved in protein deubiquitination IDA
IDA: Inferred from direct assay
18082604 GOA
involved in regulation of DNA repair IDA
IDA: Inferred from direct assay
18082604 GOA
involved in response to UV IDA
IDA: Inferred from direct assay
18082604 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
18082604 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP1 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (81 - 600)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (735 - 782)

  • 0
  • 200
  • 400
  • 600
  • 785 a.a.
Protein Preferred Names Protein Names

ubiquitin carboxyl-terminal hydrolase 1

  • Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1

USP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
USP1 O94782 WDR48 Homo sapiens Q8TAF3 33961781
Intra
USP1 O94782 WDR48 Homo sapiens Q8TAF3 28514442
Intra
USP1 O94782 WDR48 Homo sapiens Q8TAF3 35271311
Intra
USP1 O94782 WDR48 Homo sapiens Q8TAF3 19615732
Intra
USP1 O94782 WDR48 Homo sapiens Q8TAF3-1 26388029
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group I
  • Fanconi Anemia Complementation Group I

  • FANCI

Mast Syndrome
  • SPG21

  • Spastic Paraplegia 21, Autosomal Recessive

  • Autosomal Recessive Spastic Paraplegia Type 21

  • Autosomal Recessive Spastic Paraplegia 21

  • Hereditary Spastic Paraplegia 21

Fanconi Anemia, Complementation Group D2
  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Interstitial Nephritis, Karyomegalic
  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus USP1 RGD RGD:1306461
Canis familiaris USP1 VGNC VGNC:48177
Felis catus USP1 VGNC VGNC:66864
Macaca mulatta USP1 VGNC VGNC:78733
Mus musculus USP1 MGD MGI:2385198
Bos taurus USP1 VGNC VGNC:36709
Others USP1 NCBI