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Aliases for USP44 Gene

Aliases for USP44 Gene

  • Ubiquitin Specific Peptidase 44 2 3 5
  • Ubiquitin-Specific-Processing Protease 44 4
  • Ubiquitin Specific Protease 44 2
  • Deubiquitinating Enzyme 44 4
  • Ubiquitin Thioesterase 44 4
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63

External Ids for USP44 Gene

Previous GeneCards Identifiers for USP44 Gene

  • GC12M095844
  • GC12M094414
  • GC12M094397
  • GC12M094435
  • GC12M095910
  • GC12M092979

Summaries for USP44 Gene

Entrez Gene Summary for USP44 Gene

  • Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

GeneCards Summary for USP44 Gene

USP44 (Ubiquitin Specific Peptidase 44) is a Protein Coding gene. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP49.

UniProtKB/Swiss-Prot for USP44 Gene

  • Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination.

Gene Wiki entry for USP44 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP44 Gene

Genomics for USP44 Gene

Regulatory Elements for USP44 Gene

Enhancers for USP44 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around USP44 on UCSC Golden Path with GeneCards custom track

Promoters for USP44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around USP44 on UCSC Golden Path with GeneCards custom track

Genomic Location for USP44 Gene

Chromosome:
12
Start:
95,516,560 bp from pter
End:
95,551,529 bp from pter
Size:
34,970 bases
Orientation:
Minus strand

Genomic View for USP44 Gene

Genes around USP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP44 Gene

Proteins for USP44 Gene

  • Protein details for USP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0E7-UBP44_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 44
    Protein Accession:
    Q9H0E7
    Secondary Accessions:
    • B2RDW3

    Protein attributes for USP44 Gene

    Size:
    712 amino acids
    Molecular mass:
    81185 Da
    Quaternary structure:
    No Data Available

neXtProt entry for USP44 Gene

Proteomics data for USP44 Gene at MOPED

Selected DME Specific Peptides for USP44 Gene

Post-translational modifications for USP44 Gene

  • Dephosphorylated by CTDP1.
  • Ubiquitinated; undergoes both Lys-48- and Lys-63-linked polyubiquitination and is degraded by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for USP44 Gene

Gene Families for USP44 Gene

Suggested Antigen Peptide Sequences for USP44 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0E7

UniProtKB/Swiss-Prot:

UBP44_HUMAN :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family. USP44 subfamily.
  • Contains 1 UBP-type zinc finger.
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family. USP44 subfamily.
Similarity:
  • Contains 1 UBP-type zinc finger.
genes like me logo Genes that share domains with USP44: view

Function for USP44 Gene

Molecular function for USP44 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:
Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination.
UniProtKB/Swiss-Prot Induction:
Transcriptionally regulated by POU5F1/OCT4 in embryonic stem cells and embryonal carcinoma cells.

Enzyme Numbers (IUBMB) for USP44 Gene

Gene Ontology (GO) - Molecular Function for USP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 14715245
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP44: view
genes like me logo Genes that share phenotypes with USP44: view

Animal Models for USP44 Gene

MGI Knock Outs for USP44:

Animal Model Products

  • Taconic Biosciences Mouse Models for USP44

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP44 Gene

Localization for USP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP44 Gene

Nucleus. Note=Peaks in interphase, with relatively low levels maintained throughout mitosis. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP44 Gene COMPARTMENTS Subcellular localization image for USP44 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for USP44 Gene

Pathways & Interactions for USP44 Gene

genes like me logo Genes that share pathways with USP44: view

Pathways by source for USP44 Gene

1 Qiagen pathway for USP44 Gene

Gene Ontology (GO) - Biological Process for USP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process ISS --
GO:0060564 negative regulation of APC-Cdc20 complex activity IMP 17443180
GO:0090231 regulation of spindle checkpoint IMP 17443180
genes like me logo Genes that share ontologies with USP44: view

No data available for SIGNOR curated interactions for USP44 Gene

Drugs & Compounds for USP44 Gene

No Compound Related Data Available

Transcripts for USP44 Gene

Unigene Clusters for USP44 Gene

Ubiquitin specific peptidase 44:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for USP44 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3:
SP4: - - - - - -
SP5: -
SP6: - -

Relevant External Links for USP44 Gene

GeneLoc Exon Structure for
USP44
ECgene alternative splicing isoforms for
USP44

Expression for USP44 Gene

mRNA expression in normal human tissues for USP44 Gene

mRNA differential expression in normal tissues according to GTEx for USP44 Gene

This gene is overexpressed in Testis (x10.1) and Brain - Cerebellar Hemisphere (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for USP44 Gene



SOURCE GeneReport for Unigene cluster for USP44 Gene Hs.646421

mRNA Expression by UniProt/SwissProt for USP44 Gene

Q9H0E7-UBP44_HUMAN
Tissue specificity: Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia.
genes like me logo Genes that share expression patterns with USP44: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for USP44 Gene

Orthologs for USP44 Gene

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

Orthologs for USP44 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia USP44 35
  • 90.15 (n)
  • 90.24 (a)
USP44 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USP44 35
  • 90.89 (n)
  • 90.42 (a)
USP44 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp44 35
  • 82.11 (n)
  • 80.65 (a)
Usp44 16
Usp44 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia USP44 35
  • 99.44 (n)
  • 99.02 (a)
USP44 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USP44 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP44 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP44 35
  • 73.47 (n)
  • 75.25 (a)
USP44 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP44 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10247 35
usp44 35
  • 72.87 (n)
  • 74.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10183 35
zebrafish
(Danio rerio)
Actinopterygii usp44 35
  • 62.78 (n)
  • 69.44 (a)
zgc55661 35
usp44 36
  • 66 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea E01B7.1 36
  • 13 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOA4 36
  • 14 (a)
ManyToMany
UBP5 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3289 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for USP44:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for USP44 Gene

ENSEMBL:
Gene Tree for USP44 (if available)
TreeFam:
Gene Tree for USP44 (if available)

Paralogs for USP44 Gene

Paralogs for USP44 Gene

(6) SIMAP similar genes for USP44 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with USP44: view

Variants for USP44 Gene

Sequence variations from dbSNP and Humsavar for USP44 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs3812813 - 95,533,986(-) ATAAC(A/G)CAACT nc-transcript-variant, reference, missense
rs7305024 - 95,533,311(+) CTTCT(C/G/T)GCTAG nc-transcript-variant, reference, missense
rs7135642 - 95,533,215(+) TTGTC(C/T)GGAGC nc-transcript-variant, reference, missense
rs188523 -- 95,523,067(-) GGTGC(C/T)GCCCT intron-variant
rs7136096 -- 95,542,693(+) ggagg(C/T)ggagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP44 Gene

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
dgv1482n71 CNV Loss 21882294
nsv528896 CNV Gain 19592680

Variation tolerance for USP44 Gene

Residual Variation Intolerance Score: 41.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP44 Gene

Human Gene Mutation Database (HGMD)
USP44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP44 Gene

Disorders for USP44 Gene

Relevant External Links for USP44

Genetic Association Database (GAD)
USP44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP44

No disorders were found for USP44 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP44 Gene

Publications for USP44 Gene

  1. Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities. (PMID: 17443180) Stegmeier F. … Elledge S.J. (Nature 2007) 3 4 23 67
  2. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  3. Epigenetic inactivation of the candidate tumor suppressor USP44 is a frequent and early event in colorectal neoplasia. (PMID: 24837038) Sloane M.A. … Ward R.L. (Epigenetics 2014) 3
  4. The deubiquitylating enzyme USP44 counteracts the DNA double-strand break response mediated by the RNF8 and RNF168 ubiquitin ligases. (PMID: 23615962) Mosbech A. … Mailand N. (J. Biol. Chem. 2013) 3
  5. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark S.L. … van den Oord E.J. (Psychol Med 2012) 3

Products for USP44 Gene

Sources for USP44 Gene

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