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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
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Genomic context

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See USPL1 in Genome Data Viewer
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

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