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    USP17L18 ubiquitin specific peptidase 17 like family member 18 [ Homo sapiens (human) ]

    Gene ID: 100287364, updated on 3-Nov-2024

    Summary

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    Official Symbol
    USP17L18provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 17 like family member 18provided by HGNC
    Primary source
    HGNC:HGNC:44446
    See related
    Ensembl:ENSG00000250844 AllianceGenome:HGNC:44446
    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 deubiquitinase activity. 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, Nov 2024]
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    Genomic context

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    See USP17L18 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (9248630..9250222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (9217544..9219136)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (9250356..9251948)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 17 like family member 16, pseudogene Neighboring gene ubiquitin specific peptidase 17 like family member 17 Neighboring gene OCT4 hESC enhancer GRCh37_chr4:9251671-9252172 Neighboring gene ubiquitin specific peptidase 17 like family member 19 Neighboring gene ubiquitin specific peptidase 17 like family member 20

    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. Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation. Gondo Y, et al. Genomics, 1998 Nov 15. PMID 9806828
    3. 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
    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. 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

    See all (21) 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein stability 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 18
    NP_001243788.1

    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_001256859.1 → NP_001243788.1  ubiquitin carboxyl-terminal hydrolase 17-like protein 18

      See identical proteins and their annotated locations for NP_001243788.1

      Status: INFERRED

      Source sequence(s)
      AC108519
      Consensus CDS
      CCDS59459.1
      UniProtKB/Swiss-Prot
      D6R9N7
      UniProtKB/TrEMBL
      A0AAG2TI18
      Related
      ENSP00000423503.1, ENST00000504209.1
      Conserved Domains (2) 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 ...
      pfam04774
      Location:430 → 454
      HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      9248630..9250222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      9217544..9219136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D6R9N7.1 GenPept UniProtKB/Swiss-Prot:D6R9N7

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