Aliases for USP17L3 Gene

Aliases for USP17L3 Gene

  • Ubiquitin Specific Peptidase 17 Like Family Member 3 2 3 5
  • USP17B 2 3 4
  • USP17F 2 3 4
  • Ubiquitin-Specific-Processing Protease 17-Like Protein 3 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 17-Like Protein 3 3 4
  • Deubiquitinating Enzyme 17-Like Protein 3 3 4
  • Ubiquitin Thioesterase 17-Like Protein 3 3 4
  • Ubiquitin Specific Peptidase 17-Like 3 2 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP17L3 5

External Ids for USP17L3 Gene

Previous GeneCards Identifiers for USP17L3 Gene

  • GC08M007873
  • GC08M007875
  • GC08M007833
  • GC08P006885

Summaries for USP17L3 Gene

GeneCards Summary for USP17L3 Gene

USP17L3 (Ubiquitin Specific Peptidase 17 Like Family Member 3) is a Protein Coding gene. Diseases associated with USP17L3 include Partington X-Linked Mental Retardation Syndrome and Developmental And Epileptic Encephalopathy 1. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include cysteine-type peptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP17L1.

UniProtKB/Swiss-Prot Summary for USP17L3 Gene

  • Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP17L3 Gene

Genomics for USP17L3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP17L3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP17L3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP17L3

Top Transcription factor binding sites by QIAGEN in the USP17L3 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for USP17L3 Gene

Latest Assembly
chr8:7,976,393-7,977,985
(GRCh38/hg38)
Size:
1,593 bases
Orientation:
Minus strand

Previous Assembly
chr8:7,833,915-7,835,507
(GRCh37/hg19 by Entrez Gene)
Size:
1,593 bases
Orientation:
Minus strand

chr8:7,833,915-7,835,507
(GRCh37/hg19 by Ensembl)
Size:
1,593 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):885,400-886,992 (-)

Genomic View for USP17L3 Gene

Genes around USP17L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP17L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP17L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP17L3 Gene

Proteins for USP17L3 Gene

  • Protein details for USP17L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCW0-U17L3_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 17-like protein 3
    Protein Accession:
    A6NCW0

    Protein attributes for USP17L3 Gene

    Size:
    530 amino acids
    Molecular mass:
    59536 Da
    Quaternary structure:
    No Data Available

neXtProt entry for USP17L3 Gene

Selected DME Specific Peptides for USP17L3 Gene

A6NCW0:
  • AQSVKQAL
  • SDTFDPYLDI
  • TLTLHTSAKVLILVLKRFSDV
  • LVERATQESTLDHWKF
  • WRSQIKCL
  • VYVLYAVLVH
  • QALEQLVKPEELNGENAYHCG
  • HEFLMFTVDAMKKACLPGHKQVDHH
  • CTMQAHIT
  • RVDLCDDLAPVARQLAPR
  • GFHRGKQED
  • SVLSQQAYVLFYI

Post-translational modifications for USP17L3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP17L3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for USP17L3 Gene

Gene Families for USP17L3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for USP17L3 Gene

Suggested Antigen Peptide Sequences for USP17L3 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-specific-processing protease 17-like protein 3 (U17L3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NCW0

UniProtKB/Swiss-Prot:

U17L3_HUMAN :
  • Belongs to the peptidase C19 family. USP17 subfamily.
Family:
  • Belongs to the peptidase C19 family. USP17 subfamily.
genes like me logo Genes that share domains with USP17L3: view

Function for USP17L3 Gene

Molecular function for USP17L3 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12;.

Enzyme Numbers (IUBMB) for USP17L3 Gene

Phenotypes From GWAS Catalog for USP17L3 Gene

Gene Ontology (GO) - Molecular Function for USP17L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IBA 21873635
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP17L3: view
genes like me logo Genes that share phenotypes with USP17L3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP17L3

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for USP17L3 Gene

Localization for USP17L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP17L3 Gene

Nucleus. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP17L3 gene
Compartment Confidence
nucleus 3
endoplasmic reticulum 3
cytosol 3

Gene Ontology (GO) - Cellular Components for USP17L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IBA 21873635
genes like me logo Genes that share ontologies with USP17L3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP17L3 Gene

Pathways & Interactions for USP17L3 Gene

genes like me logo Genes that share pathways with USP17L3: view

Pathways by source for USP17L3 Gene

Interacting Proteins for USP17L3 Gene

Gene Ontology (GO) - Biological Process for USP17L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006915 apoptotic process IEA --
GO:0016579 protein deubiquitination IBA 21873635
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with USP17L3: view

No data available for SIGNOR curated interactions for USP17L3 Gene

Drugs & Compounds for USP17L3 Gene

No Compound Related Data Available

Transcripts for USP17L3 Gene

mRNA/cDNA for USP17L3 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP17L3

Alternative Splicing Database (ASD) splice patterns (SP) for USP17L3 Gene

No ASD Table

Relevant External Links for USP17L3 Gene

GeneLoc Exon Structure for
USP17L3

Expression for USP17L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP17L3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP17L3

SOURCE GeneReport for Unigene cluster for USP17L3 Gene:

Hs.741131
genes like me logo Genes that share expression patterns with USP17L3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP17L3 Gene

Orthologs for USP17L3 Gene

Evolution for USP17L3 Gene

ENSEMBL:
Gene Tree for USP17L3 (if available)
TreeFam:
Gene Tree for USP17L3 (if available)
Alliance of Genome Resources:
Additional Orthologs for USP17L3

No data available for Orthologs for USP17L3 Gene

Paralogs for USP17L3 Gene

genes like me logo Genes that share paralogs with USP17L3: view

Variants for USP17L3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP17L3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP17L3 Gene

Variant ID Type Subtype PubMed ID
dgv11914n54 CNV gain 21841781
dgv11928n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv1265e199 CNV deletion 23128226
dgv13n29 CNV gain+loss 16826518
dgv2035e212 CNV gain 25503493
dgv262n111 CNV deletion 26073780
dgv3764n106 CNV deletion 24896259
dgv6882n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
dgv6970n100 CNV gain 25217958
dgv6976n100 CNV loss 25217958
dgv6978n100 CNV loss 25217958
dgv6980n100 CNV gain 25217958
dgv6983n100 CNV loss 25217958
dgv6984n100 CNV gain+loss 25217958
dgv6986n100 CNV loss 25217958
dgv6987n100 CNV loss 25217958
dgv6988n100 CNV loss 25217958
dgv6989n100 CNV gain 25217958
dgv6990n100 CNV loss 25217958
dgv6991n100 CNV loss 25217958
esv1000987 CNV gain 20482838
esv2422039 CNV deletion 20811451
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv3891318 CNV gain 25118596
nsv1015205 CNV gain+loss 25217958
nsv1017081 CNV gain 25217958
nsv1018143 CNV gain+loss 25217958
nsv1030619 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1075106 CNV deletion 25765185
nsv428194 CNV gain+loss 18775914
nsv471650 CNV gain+loss 15918152
nsv471651 CNV gain+loss 15918152
nsv510977 OTHER complex 20534489
nsv515968 CNV gain+loss 19592680
nsv610137 CNV loss 21841781
nsv821327 CNV deletion 20802225
nsv821656 CNV gain 15273396
nsv8281 CNV gain+loss 18304495
nsv951093 CNV deletion 24416366
nsv967561 CNV duplication 23825009

Additional Variant Information for USP17L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP17L3
Leiden Open Variation Database (LOVD)
USP17L3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for USP17L3 Gene

Disorders for USP17L3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for USP17L3 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for USP17L3

genes like me logo Genes that share disorders with USP17L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP17L3 Gene

Publications for USP17L3 Gene

  1. Hyaluronan- and RNA-binding deubiquitinating enzymes of USP17 family members associated with cell viability. (PMID: 17109758) Shin JM … Baek KH (BMC genomics 2006) 2 3 4
  2. The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence. (PMID: 15780755) Burrows JF … Johnston JA (Genomics 2005) 2 3 4
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
  5. The deubiquitinating enzyme USP17 is essential for GTPase subcellular localization and cell motility. (PMID: 21448158) de la Vega M … Johnston JA (Nature communications 2011) 3

Products for USP17L3 Gene

Sources for USP17L3 Gene