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USP17L13 ubiquitin specific peptidase 17 like family member 13 [ Homo sapiens (human) ]

Gene ID: 100287238, updated on 23-Nov-2023

Summary

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Official Symbol
USP17L13provided by HGNC
Official Full Name
ubiquitin specific peptidase 17 like family member 13provided by HGNC
Primary source
HGNC:HGNC:44441
See related
Ensembl:ENSG00000232399 AllianceGenome:HGNC:44441
Gene type
protein coding
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable cysteine-type endopeptidase activity and thiol-dependent deubiquitinase. Predicted to be involved in protein deubiquitination and regulation of apoptotic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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Location:
4p16.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (9224896..9226488)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (9193800..9195392)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (9226622..9228214)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 17 like family member 11 Neighboring gene ubiquitin specific peptidase 17 like family member 12 Neighboring gene ubiquitin specific peptidase 17 like family member 14, pseudogene Neighboring gene ubiquitin specific peptidase 17 like family member 15

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Cdc25A and Dub3 in a high-stakes balancing act. Hayes SD, et al. Nat Cell Biol, 2010 Apr. PMID 20228807
  2. The deubiquitinating enzyme USP17 is highly expressed in tumor biopsies, is cell cycle regulated, and is required for G1-S progression. McFarlane C, et al. Cancer Res, 2010 Apr 15. PMID 20388806
  3. Hyaluronan- and RNA-binding deubiquitinating enzymes of USP17 family members associated with cell viability. Shin JM, et al. BMC Genomics, 2006 Nov 16. PMID 17109758, Free PMC Article
  4. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. Okada T, et al. Hum Genet, 2002 Apr. PMID 11941478
  5. The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter. Saitoh Y, et al. Genomics, 2000 Aug 1. PMID 10936051

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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

General gene information

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Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase 17-like protein 13
NP_001243784.1

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_001256855.1 → NP_001243784.1  ubiquitin carboxyl-terminal hydrolase 17-like protein 13

    See identical proteins and their annotated locations for NP_001243784.1

    Status: INFERRED

    Source sequence(s)
    AC108519
    Consensus CDS
    CCDS59457.1
    UniProtKB/Swiss-Prot
    C9JLJ4
    Related
    ENSP00000414392.1, ENST00000429667.1
    Conserved Domains (3) summary
    cd02661
    Location:79 → 373
    Peptidase_C19E; 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 ...
    pfam00443
    Location:80 → 372
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam04774
    Location:426 → 454
    HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    9224896..9226488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    9193800..9195392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9JLJ4.1 GenPept UniProtKB/Swiss-Prot:C9JLJ4

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