USP17L30 Gene (Protein Coding)

Ubiquitin Specific Peptidase 17 Like Family Member 30

GC04P009372
GIFtS:
19
See more...

Aliases for USP17L30 Gene

Aliases for USP17L30 Gene

  • Ubiquitin Specific Peptidase 17 Like Family Member 30 2 3 5
  • Ubiquitin Carboxyl-Terminal Hydrolase 17-Like Protein 24 4
  • Ubiquitin-Specific-Processing Protease 17 4
  • Deubiquitinating Enzyme 17 4
  • Ubiquitin Thioesterase 17 4
  • EC 3.4.19.12 4
  • USP17L30 5
  • USP17H 4
  • USP17I 4
  • USP17J 4
  • USP17K 4
  • USP17L 4
  • USP17M 4
  • USP17 4

External Ids for USP17L30 Gene

Summaries for USP17L30 Gene

GeneCards Summary for USP17L30 Gene

USP17L30 (Ubiquitin Specific Peptidase 17 Like Family Member 30) is a Protein Coding gene. 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 USP17L24.

UniProtKB/Swiss-Prot Summary for USP17L30 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.

Additional gene information for USP17L30 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP17L30 Gene

Genomics for USP17L30 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for USP17L30 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J009380 Promoter 1.1 Ensembl CraniofacialAtlas 0.4 +18.0 17972 1 ZNF654 REST GABPB1 CTCF ETV1 NRF1 RAD21 MEIS2 ZNF680 GLIS2 FAM86KP ENSG00000205959 ENSG00000288075 piR-31534-507 USP17L30 lnc-SLC2A9-8 DEFB131A
GH04J009444 Promoter 0.3 EPDnew 0.2 +81.3 81291 0.1 DEFB131A DEFB130D USP17L30
GH04J009421 Enhancer 0.2 Ensembl 0.2 +59.0 58972 0.6 DEFB130D lnc-DEFB131A-2 RNA5SP153 DEFB131A USP17L30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP17L30 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP17L30

Genomic Locations for USP17L30 Gene

Latest Assembly
chr4:9,363,129-9,364,721
(GRCh38/hg38)
Size:
1,593 bases
Orientation:
Plus strand

Previous Assembly
chr4:9,364,855-9,366,447
(GRCh37/hg19 by Entrez Gene)
Size:
1,593 bases
Orientation:
Plus strand

chr4:9,364,855-9,366,447
(GRCh37/hg19 by Ensembl)
Size:
1,593 bases
Orientation:
Plus strand

Genomic View for USP17L30 Gene

Genes around USP17L30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP17L30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP17L30 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for USP17L30 Gene

Proteins for USP17L30 Gene

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  • Protein details for USP17L30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0WX57-U17LO_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 17-like protein 24
    Protein Accession:
    Q0WX57
    Secondary Accessions:
    • A8MRA9
    • Q0WX56
    • Q3BEM1

    Protein attributes for USP17L30 Gene

    Size:
    530 amino acids
    Molecular mass:
    59711 Da
    Quaternary structure:
    No Data Available

neXtProt entry for USP17L30 Gene

Post-translational modifications for USP17L30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP17L30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for USP17L30 Gene

Domains & Families for USP17L30 Gene

Gene Families for USP17L30 Gene

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

Protein Domains for USP17L30 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2

Graphical View of Domain Structure for InterPro Entry

Q0WX57

UniProtKB/Swiss-Prot:

U17LO_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 USP17L30: view

No data available for Suggested Antigen Peptide Sequences for USP17L30 Gene

Function for USP17L30 Gene

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Molecular function for USP17L30 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; Evidence={ECO:0000269|PubMed:10936051, ECO:0000269|PubMed:17109758};.

Enzyme Numbers (IUBMB) for USP17L30 Gene

Gene Ontology (GO) - Molecular Function for USP17L30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA --
GO:0004197 cysteine-type endopeptidase activity IBA --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA --
GO:0005540 hyaluronic acid binding IDA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with USP17L30: view

No data available for Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for USP17L30 Gene

Localization for USP17L30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP17L30 Gene

Nucleus, nucleolus. 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 USP17L30 gene
Compartment Confidence
nucleus 5
cytosol 4
endoplasmic reticulum 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for USP17L30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005730 nucleolus IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with USP17L30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP17L30 Gene

Pathways & Interactions for USP17L30 Gene

genes like me logo Genes that share pathways with USP17L30: view

Pathways by source for USP17L30 Gene

Interacting Proteins for USP17L30 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 20)
STRING Interaction Network
Selected Interacting proteins: ENSP00000422887 Q0WX57-U17LO_HUMAN for USP17L30 Gene via STRING IID

GPS-Prot Interaction Network for USP17L30

Gene Ontology (GO) - Biological Process for USP17L30 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 --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with USP17L30: view

No data available for SIGNOR curated interactions for USP17L30 Gene

Drugs & Compounds for USP17L30 Gene

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No Compound Related Data Available

Transcripts for USP17L30 Gene

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mRNA/cDNA for USP17L30 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for USP17L30 Gene

No ASD Table

Relevant External Links for USP17L30 Gene

GeneLoc Exon Structure for
USP17L30

Expression for USP17L30 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP17L30 Gene

mRNA expression in normal human tissues for USP17L30 Gene
mRNA expression by GTEx for USP17L30 Gene

mRNA Expression by UniProt/SwissProt for USP17L30 Gene:

Q0WX57-U17LO_HUMAN
Tissue specificity: Expressed in heart, brain, liver and skeletal muscle.
genes like me logo Genes that share expression patterns with USP17L30: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP17L30 Gene

Orthologs for USP17L30 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP17L30 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia -- 30
  • 97 (a)
 ManyToMany
-- 30
  • 94 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 30
  • 60 (a)
 ManyToMany
-- 30
  • 53 (a)
 ManyToMany
-- 30
  • 53 (a)
 ManyToMany
-- 30
  • 53 (a)
 ManyToMany
-- 30
  • 53 (a)
 ManyToMany
-- 30
  • 53 (a)
 ManyToMany
-- 30
  • 52 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Usp17lb 30
  • 47 (a)
 ManyToMany
Usp17lc 30
  • 45 (a)
 ManyToMany
Usp17la 30
  • 45 (a)
 ManyToMany
Usp17le 30
  • 44 (a)
 ManyToMany
Usp17ld 30
  • 44 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii usp42 30
  • 17 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta scny 30
  • 13 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UBP8 30
  • 20 (a)
 OneToMany
Species where no ortholog for USP17L30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for USP17L30 Gene

ENSEMBL:
Gene Tree for USP17L30 (if available)
TreeFam:
Gene Tree for USP17L30 (if available)
Alliance of Genome Resources:
Additional Orthologs for USP17L30

Paralogs for USP17L30 Gene

Paralogs for USP17L30 Gene

(24) SIMAP similar genes for USP17L30 Gene using alignment to 1 proteins:

  • U17LO_HUMAN
genes like me logo Genes that share paralogs with USP17L30: view

Variants for USP17L30 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP17L30 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 USP17L30 Gene

Variant ID Type Subtype PubMed ID
dgv2934e59 CNV duplication 20981092
dgv922e199 CNV deletion 23128226
esv1010945 CNV gain 20482838
esv22777 CNV gain+loss 19812545
esv2678198 CNV deletion 23128226
esv2727131 CNV deletion 23290073
esv2759222 CNV gain+loss 17122850
esv2763860 CNV gain+loss 21179565
esv34196 OTHER inversion 12058347
nsv1005698 CNV gain 25217958
nsv1077962 CNV duplication 25765185
nsv1078532 CNV duplication 25765185
nsv1078533 CNV duplication 25765185
nsv1115664 CNV duplication 24896259
nsv1124886 CNV duplication 24896259
nsv1128885 CNV duplication 24896259
nsv1132583 CNV duplication 24896259
nsv1139811 CNV duplication 24896259
nsv1139812 CNV duplication 24896259
nsv1149003 CNV duplication 26484159
nsv1154116 CNV duplication 26484159
nsv4227 CNV deletion 18451855
nsv428437 CNV gain 18775914
nsv469637 CNV loss 16826518
nsv471623 CNV gain+loss 15918152
nsv515014 CNV gain 21397061
nsv515015 CNV gain 21397061
nsv515016 CNV gain 21397061
nsv949795 CNV duplication 24416366
nsv949796 CNV duplication 24416366
nsv980182 CNV duplication 23825009

Additional Variant Information for USP17L30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP17L30
Leiden Open Variation Database (LOVD)
USP17L30

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 USP17L30 Gene

Disorders for USP17L30 Gene

Additional Disease Information for USP17L30

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for USP17L30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP17L30 Gene

Publications for USP17L30 Gene

  1. The DUB/USP17 deubiquitinating enzymes: a gene family within a tandemly repeated sequence, is also embedded within the copy number variable beta-defensin cluster. (PMID: 20403174) Burrows JF … Johnston JA (BMC genomics 2010) 3 4
  2. Hyaluronan- and RNA-binding deubiquitinating enzymes of USP17 family members associated with cell viability. (PMID: 17109758) Shin JM … Baek KH (BMC genomics 2006) 3 4
  3. The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence. (PMID: 15780755) Burrows JF … Johnston JA (Genomics 2005) 3 4
  4. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. (PMID: 11941478) Okada T … Ikeda JE (Human genetics 2002) 3 4
  5. The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter. (PMID: 10936051) Saitoh Y … Ikeda JE (Genomics 2000) 3 4

ExternalLinks

View latest publications for USP17L30 gene in Mastermind

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Sources for USP17L30 Gene