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    USPL1 ubiquitin specific peptidase like 1 [ Homo sapiens (human) ]

    Gene ID: 10208, updated on 3-Apr-2024

    Summary

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    Official Symbol
    USPL1provided by HGNC
    Official Full Name
    ubiquitin specific peptidase like 1provided by HGNC
    Primary source
    HGNC:HGNC:20294
    See related
    Ensembl:ENSG00000132952 MIM:617470; AllianceGenome:HGNC:20294
    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
    Also known as
    C13orf22; D13S106E; bA121O19.1
    Summary
    Enables SUMO binding activity and SUMO-specific isopeptidase activity. Involved in several processes, including Cajal body organization; protein desumoylation; and snRNA transcription. Located in Cajal body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (30617920..30660766)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (29839977..29882805)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31192057..31234903)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 Neighboring gene microfibril associated protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3331 Neighboring gene PTPN2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31233439-31234198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5236 Neighboring gene tRNA-Asn (anticodon GTT) 2-4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7544 Neighboring gene MPRA-validated peak2063 silencer Neighboring gene uncharacterized LOC124903146 Neighboring gene arachidonate 5-lipoxygenase activating protein Neighboring gene ReSE screen-validated silencer GRCh37_chr13:31312711-31312902 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:31317812-31319011

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. Bermejo JL, et al. Int J Cancer, 2013 Jul 15. PMID 23338788
    2. A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II. Hutten S, et al. J Cell Sci, 2014 Mar 1. PMID 24413172, Free PMC Article
    3. Ubiquitin-specific protease-like 1 (USPL1) is a SUMO isopeptidase with essential, non-catalytic functions. Schulz S, et al. EMBO Rep, 2012 Oct. PMID 22878415, Free PMC Article
    4. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. Stehling O, et al. Cell Metab, 2013 Aug 6. PMID 23891004, Free PMC Article
    5. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. Stehling O, et al. Science, 2012 Jul 13. PMID 22678362, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USPL1 plays a key role in RNAPII-mediated snRNA transcription.
      Title: A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II.
    2. genetic variability in USPL1 may have a role in breast cancer, especially in rs7984952
      Title: Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32952, DKFZp781K2286

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SUMO binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables deSUMOylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Cajal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Cajal body organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein desumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein desumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in snRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Cajal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    SUMO-specific isopeptidase USPL1
    Names
    USP-like 1
    highly charged protein
    ubiquitin-specific peptidase-like protein 1
    NP_001308461.1
    NP_001308462.1
    NP_001308463.1
    NP_005791.3
    XP_006719814.1
    XP_016875803.1
    XP_016875804.1
    XP_047285983.1
    XP_047285984.1
    XP_047285985.1
    XP_047285986.1
    XP_047285987.1
    XP_047285988.1
    XP_054229966.1
    XP_054229967.1
    XP_054229968.1
    XP_054229969.1
    XP_054229970.1
    XP_054229971.1

    NCBI Reference Sequences (RefSeq)

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    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_001321532.2 → NP_001308461.1  SUMO-specific isopeptidase USPL1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK289826, AL138681, BC036027, CR627370, DB288223, X59131
      UniProtKB/TrEMBL
      B3KQ64
      Conserved Domains (2) summary
      pfam15499
      Location:47 → 317
      Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
      pfam15509
      Location:391 → 909
      DUF4650; Domain of unknown function (DUF4650)

    2. NM_001321533.2 → NP_001308462.1  SUMO-specific isopeptidase USPL1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL138681, CR627370, DB288223
      Consensus CDS
      CCDS81760.1
      UniProtKB/TrEMBL
      B3KQ64
      Related
      ENSP00000480656.1, ENST00000614860.1
      Conserved Domains (2) summary
      pfam15499
      Location:1 → 169
      Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
      pfam15509
      Location:243 → 761
      DUF4650; Domain of unknown function (DUF4650)

    3. NM_001321534.2 → NP_001308463.1  SUMO-specific isopeptidase USPL1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK057514, AL138681, CR627370
      Consensus CDS
      CCDS81760.1
      UniProtKB/TrEMBL
      B3KQ64
      Conserved Domains (2) summary
      pfam15499
      Location:1 → 169
      Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
      pfam15509
      Location:243 → 761
      DUF4650; Domain of unknown function (DUF4650)

    4. NM_005800.5 → NP_005791.3  SUMO-specific isopeptidase USPL1 isoform 1

      See identical proteins and their annotated locations for NP_005791.3

      Status: VALIDATED

      Source sequence(s)
      AK289826, AL138681, BC036027, BI752017, X59131
      Consensus CDS
      CCDS9336.1
      UniProtKB/Swiss-Prot
      Q14109, Q5W0Q7, Q6AI45, Q8IY30, Q8IYE8
      UniProtKB/TrEMBL
      A8K1B1
      Related
      ENSP00000255304.4, ENST00000255304.9
      Conserved Domains (2) summary
      pfam15499
      Location:228 → 498
      Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
      pfam15509
      Location:572 → 1090
      DUF4650; Domain of unknown function (DUF4650)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      30617920..30660766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430027.1 → XP_047285983.1  SUMO-specific isopeptidase USPL1 isoform X1

      UniProtKB/Swiss-Prot
      Q14109, Q5W0Q7, Q6AI45, Q8IY30, Q8IYE8

    2. XM_047430028.1 → XP_047285984.1  SUMO-specific isopeptidase USPL1 isoform X1

      UniProtKB/Swiss-Prot
      Q14109, Q5W0Q7, Q6AI45, Q8IY30, Q8IYE8

    3. XM_047430031.1 → XP_047285987.1  SUMO-specific isopeptidase USPL1 isoform X5

    4. XM_017020314.3 → XP_016875803.1  SUMO-specific isopeptidase USPL1 isoform X3

      UniProtKB/TrEMBL
      A8K1B1

    5. XM_006719751.5 → XP_006719814.1  SUMO-specific isopeptidase USPL1 isoform X2

      UniProtKB/TrEMBL
      A8K1B1
      Conserved Domains (2) summary
      pfam15499
      Location:222 → 492
      Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
      pfam15509
      Location:566 → 1084
      DUF4650; Domain of unknown function (DUF4650)

    6. XM_047430032.1 → XP_047285988.1  SUMO-specific isopeptidase USPL1 isoform X6

    7. XM_017020315.2 → XP_016875804.1  SUMO-specific isopeptidase USPL1 isoform X4

      UniProtKB/TrEMBL
      B3KQ64

    8. XM_047430029.1 → XP_047285985.1  SUMO-specific isopeptidase USPL1 isoform X2

    9. XM_047430030.1 → XP_047285986.1  SUMO-specific isopeptidase USPL1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      29839977..29882805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373991.1 → XP_054229966.1  SUMO-specific isopeptidase USPL1 isoform X1

    2. XM_054373995.1 → XP_054229970.1  SUMO-specific isopeptidase USPL1 isoform X5

    3. XM_054373993.1 → XP_054229968.1  SUMO-specific isopeptidase USPL1 isoform X3

    4. XM_054373992.1 → XP_054229967.1  SUMO-specific isopeptidase USPL1 isoform X2

    5. XM_054373996.1 → XP_054229971.1  SUMO-specific isopeptidase USPL1 isoform X6

    6. XM_054373994.1 → XP_054229969.1  SUMO-specific isopeptidase USPL1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W0Q7.1 GenPept UniProtKB/Swiss-Prot:Q5W0Q7

    Gene LinkOut

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