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USP17L30 Gene(Protein Coding)

Ubiquitin Specific Peptidase 17-Like Family Member 30

GCID:
GC04P009372
GIFtS:
23
Genes Participants
UDN Logo

Aliases for USP17L30 Gene

Aliases for USP17L30 Gene

  • Ubiquitin Specific Peptidase 17-Like Family Member 30 2 3 5
  • USP17L24 USP17L25 USP17L26 USP17L27 USP17L28 USP17L29 USP17L30 4
  • Ubiquitin-Specific-Processing Protease 17 4
  • Deubiquitinating Enzyme 17 4
  • Ubiquitin Thioesterase 17 4
  • EC 3.4.19.12 4
  • USP17L 4
  • USP17H 4
  • USP17I 4
  • USP17J 4
  • USP17K 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 Metabolism of proteins and Deubiquitination. 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 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 , fRNAdb sequence ontologies and piRNA Summary for USP17L30 Gene

Genomics for USP17L30 Gene

Products:

  1. Regulatory Element

Genomic Locations for USP17L30 Gene

Genomic Locations for USP17L30 Gene
chr4:9,363,129-9,364,721
(GRCh38/hg38)
Size:
1,593 bases
Orientation:
Plus strand
chr4:9,364,855-9,366,447
(GRCh37/hg19)

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

No data available for GeneHancer (GH) Regulatory Elements for USP17L30 Gene

Proteins for USP17L30 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • 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:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for USP17L30 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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).
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.

Enzyme Numbers (IUBMB) for USP17L30 Gene

Gene Ontology (GO) - Molecular Function for USP17L30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IMP --
GO:0005540 hyaluronic acid binding IDA --
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 USP17L30: view

Animal Model Products

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
endoplasmic reticulum 3
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for USP17L30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005783 endoplasmic reticulum IEA --
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 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000422887%0d%0a9606.ENSP00000331907%0d%0a9606.ENSP00000251241%0d%0a9606.ENSP00000262415%0d%0a9606.ENSP00000161863%0d%0a9606.ENSP00000225296%0d%0a
Selected Interacting proteins: ENSP00000422887 Q0WX57-U17LO_HUMAN for USP17L30 Gene via STRING IID

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 IEA --
GO:0071947 protein deubiquitination involved in ubiquitin-dependent protein catabolic process IMP --
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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  1. Drug
No Compound Related Data Available

Transcripts for USP17L30 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for USP17L30 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links 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
ECgene alternative splicing isoforms for
USP17L30

Expression for USP17L30 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

NURSA nuclear receptor signaling pathways regulating expression of USP17L30 Gene:

USP17L30

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 -- 34
  • 97 (a)
 ManyToMany
-- 34
  • 94 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia -- 34
  • 60 (a)
 ManyToMany
-- 34
  • 53 (a)
 ManyToMany
-- 34
  • 53 (a)
 ManyToMany
-- 34
  • 53 (a)
 ManyToMany
-- 34
  • 53 (a)
 ManyToMany
-- 34
  • 53 (a)
 ManyToMany
-- 34
  • 52 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Usp17lb 34
  • 47 (a)
 ManyToMany
Usp17la 34
  • 45 (a)
 ManyToMany
Usp17lc 34
  • 45 (a)
 ManyToMany
Usp17ld 34
  • 44 (a)
 ManyToMany
Usp17le 34
  • 44 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii usp42 34
  • 17 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta scny 34
  • 13 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UBP8 34
  • 20 (a)
 OneToMany
Species where no ortholog for USP17L30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for USP17L30 Gene

Paralogs for USP17L30 Gene

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

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

Variants for USP17L30 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for USP17L30 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs12644267 -- 9,362,915(+) C/G upstream_transcript_variant
rs12646090 -- 9,362,756(+) T/G upstream_transcript_variant
rs138113696 -- 9,364,364(+) C/T coding_sequence_variant, synonymous_variant
rs138313496 -- 9,365,103(+) TTTT/TTT downstream_transcript_variant
rs138665907 -- 9,365,140(+) T/C downstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for USP17L30 Gene

Disorders for USP17L30 Gene

Additional Disease Information for USP17L30

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 58
  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 58
  3. The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence. (PMID: 15780755) Burrows JF … Johnston JA (Genomics 2005) 3 4 58
  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 58
  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 58

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Sources for USP17L30 Gene

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