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Aliases for USP54 Gene

Aliases for USP54 Gene

  • Ubiquitin Specific Peptidase 54 2 3 5
  • Inactive Ubiquitin-Specific Peptidase 54 3 4
  • Ubiquitin Specific Protease 54 2 3
  • C10orf29 3 4
  • Inactive Ubiquitin Carboxyl-Terminal Hydrolase 54 3
  • Chromosome 10 Open Reading Frame 29 2
  • Ubiquitin Specific Proteinase 54 3
  • BA137L10.3 3
  • BA137L10.4 3

External Ids for USP54 Gene

Previous HGNC Symbols for USP54 Gene

  • C10orf29

Previous GeneCards Identifiers for USP54 Gene

  • GC10M074601
  • GC10M074602
  • GC10M074927
  • GC10M075257
  • GC10M069250

Summaries for USP54 Gene

GeneCards Summary for USP54 Gene

USP54 (Ubiquitin Specific Peptidase 54) is a Protein Coding gene. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP53.

UniProtKB/Swiss-Prot for USP54 Gene

  • Has no peptidase activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP54 Gene

Genomics for USP54 Gene

Regulatory Elements for USP54 Gene

Enhancers for USP54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F073588 1.2 FANTOM5 Ensembl ENCODE 16.3 +34.6 34642 5.9 PKNOX1 ATF1 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF48 ZNF121 SLC30A9 NUDT13 USP54 RPL17P50 GLUD1P3 DUSP8P5 RNU6-883P SYNPO2L ECD CAMK2G PPP3CB
GH10F073584 1 Ensembl ENCODE 15.9 +39.6 39613 2.9 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS SP5 KAT8 NUDT13 CFAP70 AGAP5 GLUD1P3 ENSG00000272140 DUSP8P5 HMGN2P34 LOC102723439 USP54 ENSG00000242288
GH10F073575 1.5 FANTOM5 Ensembl ENCODE 15.8 +48.6 48645 3.0 INSM2 ZNF384 RAD21 ZNF2 YY1 ZNF664 PRDM10 FOS ZNF600 TCF7L2 USP54 SYNPO2L RNU6-883P NUDT13 PPP3CB CAMK2G CFAP70 C10orf55 GC10P073575 GC10P073587
GH10F073600 1.4 Ensembl ENCODE 12.4 +24.4 24383 1.6 PKNOX1 SIN3A RAD21 GATA3 CTBP1 ZNF366 SCRT2 NFE2 ZNF600 FOS NUDT13 CFAP70 ENSG00000227540 USP54 RNU6-883P SYNPO2L ENSG00000272791 ENSG00000229990 CAMK2G GC10P073609
GH10F073573 0.2 ENCODE 11.7 +51.8 51773 1.3 ZNF26 PRDM1 CFAP70 ENSG00000272140 ECD RNU6-883P USP54 RPL17P50 AGAP5 SYNPO2L GLUD1P3 BMS1P4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around USP54 on UCSC Golden Path with GeneCards custom track

Promoters for USP54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001424783 152 2400 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 KLF13

Genomic Location for USP54 Gene

Chromosome:
10
Start:
73,497,538 bp from pter
End:
73,625,953 bp from pter
Size:
128,416 bases
Orientation:
Minus strand

Genomic View for USP54 Gene

Genes around USP54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP54 Gene

Proteins for USP54 Gene

  • Protein details for USP54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70EL1-UBP54_HUMAN
    Recommended name:
    Inactive ubiquitin carboxyl-terminal hydrolase 54
    Protein Accession:
    Q70EL1
    Secondary Accessions:
    • A1L4Q4
    • A3KFK3
    • A3KFK5
    • A3KFK6
    • A3KFK7
    • A6PVS4
    • A6PVS5
    • A6PVS6
    • A6PVS7
    • B3KVY1
    • B9ZVM1
    • Q5F2F4
    • Q6P1N6
    • Q6ZSP1
    • Q6ZSR1
    • Q6ZTM0
    • Q8N1X2

    Protein attributes for USP54 Gene

    Size:
    1684 amino acids
    Molecular mass:
    187388 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04393.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG53943.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BX649087; Type=Frameshift; Positions=508; Evidence={ECO:0000305}; Sequence=CAO03507.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAO03508.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAO03509.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for USP54 Gene

neXtProt entry for USP54 Gene

Post-translational modifications for USP54 Gene

  • Ubiquitination at Lys 1236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for USP54 Gene

Domains & Families for USP54 Gene

Gene Families for USP54 Gene

Protein Domains for USP54 Gene

Suggested Antigen Peptide Sequences for USP54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q70EL1

UniProtKB/Swiss-Prot:

UBP54_HUMAN :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family.
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP54: view

Function for USP54 Gene

Molecular function for USP54 Gene

UniProtKB/Swiss-Prot Function:
Has no peptidase activity.

Gene Ontology (GO) - Molecular Function for USP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16713569
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP54: view
genes like me logo Genes that share phenotypes with USP54: view

Animal Models for USP54 Gene

MGI Knock Outs for USP54:

Animal Model Products

  • Taconic Biosciences Mouse Models for USP54

miRNA for USP54 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP54 Gene

Localization for USP54 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP54 Gene COMPARTMENTS Subcellular localization image for USP54 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for USP54 Gene

Pathways & Interactions for USP54 Gene

genes like me logo Genes that share pathways with USP54: view

Pathways by source for USP54 Gene

1 Qiagen pathway for USP54 Gene

Gene Ontology (GO) - Biological Process for USP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016579 protein deubiquitination IEA --
genes like me logo Genes that share ontologies with USP54: view

No data available for SIGNOR curated interactions for USP54 Gene

Transcripts for USP54 Gene

Unigene Clusters for USP54 Gene

Ubiquitin specific peptidase 54:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP54 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - -
SP2: - - -
SP3:
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9:
SP10:

ExUns: 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c
SP1:
SP2: - - - -
SP3:
SP4: -
SP5:
SP6: - -
SP7: - - -
SP8:
SP9:
SP10: -

Relevant External Links for USP54 Gene

GeneLoc Exon Structure for
USP54
ECgene alternative splicing isoforms for
USP54

Expression for USP54 Gene

mRNA expression in normal human tissues for USP54 Gene

mRNA differential expression in normal tissues according to GTEx for USP54 Gene

This gene is overexpressed in Muscle - Skeletal (x7.3).

Protein differential expression in normal tissues from HIPED for USP54 Gene

This gene is overexpressed in Prostate (30.7), Frontal cortex (28.7), and Spinal cord (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP54 Gene



Protein tissue co-expression partners for USP54 Gene

NURSA nuclear receptor signaling pathways regulating expression of USP54 Gene:

USP54

SOURCE GeneReport for Unigene cluster for USP54 Gene:

Hs.657355

mRNA Expression by UniProt/SwissProt for USP54 Gene:

Q70EL1-UBP54_HUMAN
Tissue specificity: Weakly expressed in a few tissues.
genes like me logo Genes that share expression patterns with USP54: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for USP54 Gene

Orthologs for USP54 Gene

This gene was present in the common ancestor of animals.

Orthologs for USP54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP54 34 35
  • 98.79 (n)
dog
(Canis familiaris)
Mammalia USP54 34 35
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia USP54 34 35
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Usp54 34 16 35
  • 83.75 (n)
rat
(Rattus norvegicus)
Mammalia Usp54 34
  • 83.09 (n)
oppossum
(Monodelphis domestica)
Mammalia USP54 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP54 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP54 34 35
  • 67.65 (n)
lizard
(Anolis carolinensis)
Reptilia USP54 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp54 34
  • 61.45 (n)
zebrafish
(Danio rerio)
Actinopterygii usp54a 34 35
  • 65.98 (n)
USP54 (1 of 2) 35
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ec 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for USP54 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for USP54 Gene

ENSEMBL:
Gene Tree for USP54 (if available)
TreeFam:
Gene Tree for USP54 (if available)

Paralogs for USP54 Gene

Paralogs for USP54 Gene

(1) SIMAP similar genes for USP54 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with USP54: view

Variants for USP54 Gene

Sequence variations from dbSNP and Humsavar for USP54 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036360 A breast cancer sample
rs1007496 -- 73,585,373(-) tgctt(A/C)ccata intron-variant
rs10160201 -- 73,603,038(+) AGAAC(C/T)CATCC intron-variant, upstream-variant-2KB
rs10465980 -- 73,540,821(+) AAGAT(C/G)CCAGA intron-variant
rs10509345 -- 73,601,545(-) TTGAC(A/G)CTTCA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for USP54 Gene

Variant ID Type Subtype PubMed ID
esv2430194 CNV deletion 19546169
esv3623814 CNV loss 21293372
esv3623815 CNV loss 21293372

Variation tolerance for USP54 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP54 Gene

Human Gene Mutation Database (HGMD)
USP54
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP54 Gene

Disorders for USP54 Gene

Relevant External Links for USP54

Genetic Association Database (GAD)
USP54
Human Genome Epidemiology (HuGE) Navigator
USP54
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP54

No disorders were found for USP54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP54 Gene

Publications for USP54 Gene

  1. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PMID: 14715245) Quesada V. … Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 64
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 64

Products for USP54 Gene

Sources for USP54 Gene

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