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    USP40 ubiquitin specific peptidase 40 [ Homo sapiens (human) ]

    Gene ID: 55230, updated on 5-May-2013
    Official Symbol
    USP40provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 40provided by HGNC
    Primary source
    HGNC:20069
    See related
    Ensembl:ENSG00000085982; HPRD:07166; MIM:610570; Vega:OTTHUMG00000153199
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
    Location :
    2q37.1
    Sequence :
    Chromosome: 2; NC_000002.11 (234384165..234474236, complement)
    See USP40 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene S-antigen; retina and pineal gland (arrestin) Neighboring gene diacylglycerol kinase, delta 130kDa Neighboring gene protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene Neighboring gene UDP glucuronosyltransferase 1 family, polypeptide A complex locus

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Association analysis of single-nucleotide polymorphisms of USP24 and USP40 with Parkinson's disease in the Han Chinese population. Zhao B, et al. Eur Neurol, 2012. PMID 22923019.
    2. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388.
    3. Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. Bielinski SJ, et al. Mayo Clin Proc, 2011 Jul. PMID 21646302.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese. Wu YR, et al. Clin Chim Acta, 2010 Jul 4. PMID 20302855.

    See all (15) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. present study is the first to report a lack of association between SNPs of USP40 and parkinson disease in Han Chinese patients. Other
      Title: Association analysis of single-nucleotide polymorphisms of USP24 and USP40 with Parkinson's disease in the Han Chinese population.
    2. USP24 alone plays a role in PD susceptibility among Taiwanese people >or=60 years of age, or acting synergistically with USP40 and UCHL1 in the total subjects.
      Title: Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease.
    5. Da suggest that genetic variants in USP40 affect the risk for late-onset Parkinson disease (PD), which is consistent with the predicted role of the ubiquitination pathway in PD etiology.
      Title: Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q9NVE5 Q16531 DDB1    HPRD  PubMed  
    Q9NVE5 Q92466 DDB2    HPRD  PubMed  
    BioGRID:120525 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ10785, FLJ42100

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ubiquitin thiolesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 40
    Names
    ubiquitin carboxyl-terminal hydrolase 40
    ubiquitin thioesterase 40
    deubiquitinating enzyme 40
    ubiquitin thiolesterase 40
    ubiquitin specific protease 40
    ubiquitin-specific-processing protease 40
    NP_060688.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018218.2 → NP_060688.1  ubiquitin carboxyl-terminal hydrolase 40

      Status: VALIDATED

      Source sequence(s)
      AC019072, AI375976, AJ583821, AK001647, AL833371
      Consensus CDS
      CCDS46547.1
      UniProtKB/Swiss-Prot
      Q9NVE5
      Related
      ENSP00000415434, ENST00000450966
      Conserved Domains (3) summary
      cd02257
      Location:460 – 492
      Blast Score: 102
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
      cd02659
      Location:51 – 356
      Blast Score: 891
      peptidase_C19C; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam13423
      Location:53 – 323
      Blast Score: 176
      UCH_1; Ubiquitin carboxyl-terminal hydrolase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      234384165..234474236, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      226184857..226274836, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      233756890..233847038, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01001948.1 (120589..167450) None
    genomic ABBA01001949.1 None
    genomic AC019072.8 (110421..190489) None
    genomic AC019221.4 (201..50382) None
    genomic AMYH01011578.1 (120517..139932) None
    genomic AMYH01011579.1 None
    genomic CH471063.1 EAW71051.1
      EAW71052.1
    mRNA AI375976.1 None
    mRNA AJ583821.2 CAE47748.2
    mRNA AK001647.1 BAA91807.1
    mRNA AK124094.1 BAC85770.1
    mRNA AK295112.1 BAG58142.1
    mRNA AK297821.1 BAG60158.1
    mRNA AL833371.1 None
    mRNA BC013305.1 None
    mRNA BC067300.1 AAH67300.1
    mRNA BC086855.1 None
    other-genetic BC156498.1 AAI56499.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVE5.3 GenPept UniProtKB/Swiss-Prot:Q9NVE5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Tools
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      Supplemental Content

      Table of contents

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