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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 61

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

  • The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]

GeneCards Summary for USP44 Gene

USP44 (Ubiquitin Specific Peptidase 44) is a Protein Coding gene. Diseases associated with USP44 include Embryonal Carcinoma. Among its related pathways are Metabolism of proteins and 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 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
GH12F095550 0.2 ENCODE 20.9 -0.1 -83 2.3 ZNF493 ZFP64 ETS1 ZNF121 GLIS2 ZNF354C ZNF138 ZNF366 KLF7 ZNF202 USP44 METAP2 ELK3 SNRPF PGAM1P5 ENSG00000212448
GH12F095545 0.8 Ensembl ENCODE 18.3 +3.7 3724 4.7 PKNOX1 MLX ZFP64 ARID4B DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF263 USP44 ENSG00000258313 ENSG00000258272 METAP2
GH12F095593 0.8 Ensembl ENCODE 12.1 -42.3 -42338 1.5 USP44 ENSG00000212448 PGAM1P5
GH12F096033 0.6 ENCODE 10.4 -483.7 -483710 2.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 NEDD1 ELK3 HAL PGAM1P5 LOC102723340 ENSG00000258272 ENSG00000258313 ENSG00000202368 ENSG00000257470 NTN4
GH12F095941 0.2 ENCODE 10.4 -391.6 -391638 2.4 PKNOX1 ZFP64 SIN3A ARID4B FEZF1 DMAP1 ZNF2 YY1 CBX5 ZNF263 AMDHD1 ELK3 NEDD1 METAP2 SNRPF USP44 HAL CCDC38 GC12P095914
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000173716 129 401 ZNF501 REST ETS1 ZNF121 GLIS2 POLR2A ZNF366 BCL11A GLIS1 POU5F1
ENSR00001780094 -771 201 ZNF362

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

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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for USP44

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:0005515 protein binding IPI 17443180
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0008270 zinc ion binding 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

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for USP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20402667
GO:0005730 nucleolus IDA --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with USP44: view

Pathways & Interactions for USP44 Gene

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

Pathways by source for USP44 Gene

Gene Ontology (GO) - Biological Process for USP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0016579 protein deubiquitination IDA 14715245
genes like me logo Genes that share ontologies with USP44: view

No data available for SIGNOR curated interactions for USP44 Gene

Transcripts for USP44 Gene

Unigene Clusters for USP44 Gene

Ubiquitin specific peptidase 44:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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



NURSA nuclear receptor signaling pathways regulating expression of USP44 Gene:

USP44

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
chimpanzee
(Pan troglodytes)
Mammalia USP44 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia USP44 34 35
  • 90.89 (n)
cow
(Bos Taurus)
Mammalia USP44 34 35
  • 90.15 (n)
mouse
(Mus musculus)
Mammalia Usp44 34 16 35
  • 82.11 (n)
oppossum
(Monodelphis domestica)
Mammalia USP44 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP44 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP44 34 35
  • 73.47 (n)
lizard
(Anolis carolinensis)
Reptilia USP44 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp44 34
  • 72.87 (n)
Str.10247 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10183 34
zebrafish
(Danio rerio)
Actinopterygii usp44 34 35
  • 62.78 (n)
zgc55661 34
worm
(Caenorhabditis elegans)
Secernentea E01B7.1 35
  • 13 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP5 35
  • 16 (a)
ManyToMany
DOA4 35
  • 14 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3289 34
Species where no ortholog for USP44 was found in the sources mined by GeneCards:
  • 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

Variants for USP44 Gene

Sequence variations from dbSNP and Humsavar for USP44 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11548854 untested 95,534,044(-) TTGGA(A/G/T)GTGAA nc-transcript-variant, reference, synonymous-codon, missense
rs10437880 -- 95,521,907(+) CATCT(A/C)TATTT intron-variant
rs10498964 -- 95,536,492(+) GTGAT(C/T)TATAT intron-variant, upstream-variant-2KB
rs10686641 -- 95,538,544(+) AAAAG(-/C/CG/G)GGGGG intron-variant
rs10777697 -- 95,518,793(+) AATTC(A/G)CCAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4234n106 CNV deletion 24896259
esv3558848 CNV deletion 23714750
esv3580379 CNV loss 25503493
nsv1052350 CNV gain 25217958
nsv1076254 CNV deletion 25765185
nsv1152091 CNV deletion 26484159
nsv528896 CNV gain 19592680
nsv559808 CNV gain 21841781
nsv7234 OTHER inversion 18451855

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP44

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

Disorders for USP44 Gene

MalaCards: The human disease database

(1) MalaCards diseases for USP44 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search USP44 in MalaCards View complete list of genes associated with diseases

Relevant External Links for USP44

Genetic Association Database (GAD)
USP44
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP44
genes like me logo Genes that share disorders with USP44: view

No data available for 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 22 64
  2. 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 46 64
  3. Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit. (PMID: 22692537) Visconti R. … Grieco D. (Nat. Commun. 2012) 3 4 64
  4. Overexpression of ubiquitin specific protease 44 (USP44) induces chromosomal instability and is frequently observed in human T-cell leukemia. (PMID: 21853124) Zhang Y. … Galardy P.J. (PLoS ONE 2011) 3 4 64
  5. K48- and K63-linked polyubiquitination of deubiquitinating enzyme USP44. (PMID: 20402667) Suresh B. … Baek K.H. (Cell Biol. Int. 2010) 3 4 64

Products for USP44 Gene

Sources for USP44 Gene

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