Aliases for USP34 Gene

Aliases for USP34 Gene

  • Ubiquitin Specific Peptidase 34 2 3 5
  • Ubiquitin-Specific-Processing Protease 34 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 34 3 4
  • Ubiquitin Specific Protease 34 2 3
  • Deubiquitinating Enzyme 34 3 4
  • Ubiquitin Thioesterase 34 3 4
  • KIAA0570 2 4
  • KIAA0729 2 4
  • Ubiquitin Thiolesterase 34 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP34 5

External Ids for USP34 Gene

Previous GeneCards Identifiers for USP34 Gene

  • GC02M061372
  • GC02M061389
  • GC02M061327
  • GC02M061414
  • GC02M061155

Summaries for USP34 Gene

GeneCards Summary for USP34 Gene

USP34 (Ubiquitin Specific Peptidase 34) is a Protein Coding gene. Diseases associated with USP34 include Chromosome 2P16.1-P15 Deletion Syndrome and Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are Signaling by GPCR and Deubiquitination. Gene Ontology (GO) annotations related to this gene include binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP24.

UniProtKB/Swiss-Prot Summary for USP34 Gene

  • Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins.

Gene Wiki entry for USP34 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP34 Gene

Genomics for USP34 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP34 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 USP34 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP34

Top Transcription factor binding sites by QIAGEN in the USP34 gene promoter:
  • AP-4
  • C/EBPalpha
  • CHOP-10
  • FOXO1
  • FOXO1a
  • MIF-1
  • RREB-1
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for USP34 Gene

Latest Assembly
chr2:61,187,463-61,471,087
(GRCh38/hg38)
Size:
283,625 bases
Orientation:
Minus strand

Previous Assembly
chr2:61,414,598-61,698,222
(GRCh37/hg19 by Entrez Gene)
Size:
283,625 bases
Orientation:
Minus strand

chr2:61,414,598-61,697,904
(GRCh37/hg19 by Ensembl)
Size:
283,307 bases
Orientation:
Minus strand

Genomic View for USP34 Gene

Genes around USP34 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP34 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP34 Gene

Proteins for USP34 Gene

  • Protein details for USP34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70CQ2-UBP34_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 34
    Protein Accession:
    Q70CQ2
    Secondary Accessions:
    • A8MWD0
    • B3KWU9
    • O60316
    • O94834
    • Q3B777
    • Q6P6C9
    • Q7L8P6
    • Q8N3T9
    • Q8TBW2
    • Q9UGA1

    Protein attributes for USP34 Gene

    Size:
    3546 amino acids
    Molecular mass:
    404233 Da
    Quaternary structure:
    • Interacts with AXIN1 and AXIN2.
    SequenceCaution:
    • Sequence=AAI07762.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA25496.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG54261.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for USP34 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP34 Gene

Selected DME Specific Peptides for USP34 Gene

Q70CQ2:
  • IQQLYMIP
  • GSSGPGS

Post-translational modifications for USP34 Gene

  • Ubiquitination at Lys484, Lys1574, Lys1968, Lys2100, Lys2102, and Lys2219
  • Modification sites at PhosphoSitePlus

Other Protein References for USP34 Gene

Domains & Families for USP34 Gene

Protein Domains for USP34 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2

Suggested Antigen Peptide Sequences for USP34 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (B9ZVR8_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (C9JGA8_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (C9JV64_HUMAN)
  • Ubiquitin-specific-processing protease 34 (UBP34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q70CQ2

UniProtKB/Swiss-Prot:

UBP34_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP34: view

Function for USP34 Gene

Molecular function for USP34 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins.
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:14715245, ECO:0000269|PubMed:21383061};.

Enzyme Numbers (IUBMB) for USP34 Gene

Phenotypes From GWAS Catalog for USP34 Gene

Gene Ontology (GO) - Molecular Function for USP34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IBA,IMP 21383061
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,IDA 14715245
GO:0005515 protein binding IPI 21383061
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP34: view
genes like me logo Genes that share phenotypes with USP34: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP34

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for USP34 Gene

Localization for USP34 Gene

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 USP34 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for USP34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with USP34: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for USP34 Gene

Pathways & Interactions for USP34 Gene

genes like me logo Genes that share pathways with USP34: view

Pathways by source for USP34 Gene

1 Qiagen pathway for USP34 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis

Gene Ontology (GO) - Biological Process for USP34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016055 Wnt signaling pathway TAS --
GO:0016579 protein deubiquitination IEA,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with USP34: view

No data available for SIGNOR curated interactions for USP34 Gene

Drugs & Compounds for USP34 Gene

No Compound Related Data Available

Transcripts for USP34 Gene

mRNA/cDNA for USP34 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
22 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 USP34

Alternative Splicing Database (ASD) splice patterns (SP) for USP34 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:

ExUns: 41a · 41b ^ 42 ^ 43 ^ 44a · 44b · 44c ^ 45a · 45b ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51a · 51b ^ 52 ^ 53 ^ 54 ^ 55 ^ 56a · 56b ^ 57 ^ 58a · 58b ^ 59a ·
SP1:
SP2: - - - - - - -
SP3: - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13: -
SP14: -
SP15: - -
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 59b ^ 60a · 60b · 60c · 60d ·
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20: -
SP21:

Relevant External Links for USP34 Gene

GeneLoc Exon Structure for
USP34

Expression for USP34 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP34 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP34 Gene

This gene is overexpressed in Adrenal (12.4), Ovary (12.1), Placenta (8.9), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP34 Gene



Protein tissue co-expression partners for USP34 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP34

SOURCE GeneReport for Unigene cluster for USP34 Gene:

Hs.644708

mRNA Expression by UniProt/SwissProt for USP34 Gene:

Q70CQ2-UBP34_HUMAN
Tissue specificity: Expressed in brain at low level.

Evidence on tissue expression from TISSUES for USP34 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Kidney(4.3)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with USP34: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP34 Gene

Orthologs for USP34 Gene

This gene was present in the common ancestor of animals.

Orthologs for USP34 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP34 29 30
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP34 29 30
  • 95.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP34 29 30
  • 94.79 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP34 30
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia USP34 30
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Usp34 29 16 30
  • 92.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp34 29
  • 90.78 (n)
Chicken
(Gallus gallus)
Aves USP34 29 30
  • 84.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP34 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp34 29
  • 79.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24028 29
Zebrafish
(Danio rerio)
Actinopterygii usp34 29 30
  • 71.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5794 29 30
  • 52.42 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003643 29
  • 51.86 (n)
Worm
(Caenorhabditis elegans)
Secernentea T24B8.7 30
  • 16 (a)
OneToMany
Species where no ortholog for USP34 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for USP34 Gene

ENSEMBL:
Gene Tree for USP34 (if available)
TreeFam:
Gene Tree for USP34 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP34: view image
Alliance of Genome Resources:
Additional Orthologs for USP34

Paralogs for USP34 Gene

Variants for USP34 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP34 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs114025298 Benign: not provided 61,348,277(-) G/A
NM_014709.4(USP34):c.1878C>T (p.Asp626=)
SYNONYMOUS
rs11891480 Benign: not provided 61,343,960(-) T/G
NM_014709.4(USP34):c.2355A>C (p.Ser785=)
SYNONYMOUS
rs143842551 Benign: not provided 61,188,284(-) C/G
NM_014709.4(USP34):c.10459G>C (p.Asp3487His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs144420483 Likely Benign: not provided 61,406,121(-) G/A
NM_014709.4(USP34):c.139C>T (p.Leu47=)
SYNONYMOUS
rs1572900171 Likely Benign: not provided 61,284,869(-) G/A
NM_014709.4(USP34):c.4832+6C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP34 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 USP34 Gene

Variant ID Type Subtype PubMed ID
dgv1126e212 CNV loss 25503493
esv2666095 CNV deletion 23128226
esv2760616 CNV loss 21179565
esv3396738 CNV insertion 20981092
esv3583842 CNV loss 25503493
esv3583843 CNV loss 25503493
esv3583846 CNV loss 25503493
esv3591016 CNV loss 21293372
esv3591017 CNV loss 21293372
esv3591018 CNV loss 21293372
nsv1012689 CNV gain 25217958
nsv1014905 CNV gain 25217958
nsv1129395 OTHER inversion 24896259
nsv528479 CNV loss 19592680
nsv582118 CNV gain 21841781
nsv582119 CNV loss 21841781
nsv7313 OTHER inversion 18451855
nsv961408 CNV duplication 23825009

Variation tolerance for USP34 Gene

Residual Variation Intolerance Score: 0.0422% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP34 Gene

Human Gene Mutation Database (HGMD)
USP34
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP34
Leiden Open Variation Database (LOVD)
USP34

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP34 Gene

Disorders for USP34 Gene

MalaCards: The human disease database

(3) MalaCards diseases for USP34 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 2p16.1-p15 deletion syndrome
  • 2p15-p16.1 microdeletion syndrome
arthrogryposis, renal dysfunction, and cholestasis 1
  • arcs1
meningocele
  • spinal meningocele
- elite association - COSMIC cancer census association via MalaCards
Search USP34 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP34

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with USP34: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP34 Gene

Publications for USP34 Gene

  1. The ubiquitin-specific protease USP34 regulates axin stability and Wnt/β-catenin signaling. (PMID: 21383061) Lui TT … Angers S (Molecular and cellular biology 2011) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PMID: 14715245) Quesada V … López-Otín C (Biochemical and biophysical research communications 2004) 3 4

Products for USP34 Gene

Sources for USP34 Gene