USP44 Gene (Protein Coding)

Ubiquitin Specific Peptidase 44

GC12M095516
GIFtS:
38
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] See more...

Aliases for USP44 Gene

Aliases for USP44 Gene

  • Ubiquitin Specific Peptidase 44 2 3 5
  • Ubiquitin-Specific-Processing Protease 44 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 44 3 4
  • Ubiquitin Specific Protease 44 2 3
  • Deubiquitinating Enzyme 44 3 4
  • Ubiquitin Thioesterase 44 3 4
  • Ubiquitin Thiolesterase 44 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • FLJ14528 2
  • USP44 5

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 Deubiquitination and Ubiquitin-Proteasome Dependent Proteolysis. Gene Ontology (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 Summary 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

Additional gene information for USP44 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP44 Gene

Genomics for USP44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for USP44 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 USP44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP44

Top Transcription factor binding sites by QIAGEN in the USP44 gene promoter:
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • SRY

Genomic Locations for USP44 Gene

Latest Assembly
chr12:95,516,560-95,551,529
(GRCh38/hg38)
Size:
34,970 bases
Orientation:
Minus strand

Previous Assembly
chr12:95,910,336-95,945,252
(GRCh37/hg19 by Entrez Gene)
Size:
34,917 bases
Orientation:
Minus strand

chr12:95,910,336-95,945,266
(GRCh37/hg19 by Ensembl)
Size:
34,931 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 Structure • Gene Density

RefSeq DNA sequence for USP44 Gene

Proteins for USP44 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for USP44 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for USP44 Gene

Q9H0E7:
  • NLGNTCYMN
  • QQDAQEFL

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

Other Protein References for USP44 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for USP44 Gene

Gene Families for USP44 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for USP44 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2
  • Zn-finger in ubiquitin thiolesterase

Suggested Antigen Peptide Sequences for USP44 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-specific-processing protease 44 (UBP44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0E7

UniProtKB/Swiss-Prot:

UBP44_HUMAN :
  • Belongs to the peptidase C19 family. USP44 subfamily.
Family:
  • Belongs to the peptidase C19 family. USP44 subfamily.
genes like me logo Genes that share domains with USP44: view

Function for USP44 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for USP44 Gene

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 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:17443180, ECO:0000269|PubMed:20402667};.
UniProtKB/Swiss-Prot Induction:
Transcriptionally regulated by POU5F1/OCT4 in embryonic stem cells and embryonal carcinoma cells.

Enzyme Numbers (IUBMB) for USP44 Gene

Phenotypes From GWAS Catalog 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 IMP 17443180
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:
  • Usp44 Usp44<tm1b(EUCOMM)Hmgu>
  • Usp44 Usp44<tm1.2Pjgl>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP44

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
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 USP44 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20402667
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with USP44: view

Pathways & Interactions for USP44 Gene

PathCards logo

SuperPathways 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
  • Ubiquitin-Proteasome Dependent Proteolysis

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:0007059 chromosome segregation IEA --
GO:0016579 protein deubiquitination TAS --
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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for USP44 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for USP44 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 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 USP44

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

Expression for USP44 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP44 Gene

mRNA expression in normal human tissues for USP44 Gene
mRNA expression by BioGPS for USP44 GenemRNA expression by GTEx 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 and MOPED for USP44 Gene



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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.44 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia USP44 29 30
  • 90.89 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia USP44 29 30
  • 90.15 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Usp44 29 16 30
  • 82.11 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia USP44 30
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia USP44 30
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves USP44 29 30
  • 73.47 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia USP44 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia usp44 29
  • 72.87 (n)
Str.10247 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10183 29
Zebrafish
(Danio rerio)
 Actinopterygii usp44 29 30
  • 62.78 (n)
 OneToOne
zgc55661 29
Worm
(Caenorhabditis elegans)
 Secernentea E01B7.1 30
  • 13 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UBP5 30
  • 16 (a)
 ManyToMany
DOA4 30
  • 14 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 43 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3289 29
Species where no ortholog for USP44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for USP44: view image
Alliance of Genome Resources:
Additional Orthologs for USP44

Paralogs for USP44 Gene

Paralogs for USP44 Gene

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

  • UBP44_HUMAN
  • F8VRI7_HUMAN
  • F8VRW0_HUMAN
  • F8VVD6_HUMAN
genes like me logo Genes that share paralogs with USP44: view

Variants for USP44 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP44 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
870251 Uncertain Significance: Intellectual disability, moderate 95,533,371(-) TAAGTAAATGACTC/A
NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs115147134 Benign: not provided 95,534,152(-) G/C
NM_032147.5(USP44):c.105C>G (p.Thr35=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs11548854 Not Provided: not provided 95,534,044(-) C/A
NM_032147.5(USP44):c.213G>T (p.Glu71Asp) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs34987131 Benign: not provided 95,533,549(-) C/T
NM_032147.5(USP44):c.708G>A (p.Thr236=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs61733460 Benign: not provided 95,533,170(-) C/T
NM_032147.5(USP44):c.1087G>A (p.Gly363Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP44 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 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)

Additional Variant Information for USP44 Gene

Human Gene Mutation Database (HGMD)
USP44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP44
Leiden Open Variation Database (LOVD)
USP44

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

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

Additional Disease Information for USP44

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 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 SJ (Nature 2007) 3 4 22
  2. Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit. (PMID: 22692537) Visconti R … Grieco D (Nature communications 2012) 3 4
  3. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 40
  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 PJ (PloS one 2011) 3 4
  5. K48- and K63-linked polyubiquitination of deubiquitinating enzyme USP44. (PMID: 20402667) Suresh B … Baek KH (Cell biology international 2010) 3 4

ExternalLinks

View latest publications for USP44 gene in Mastermind

Products for USP44 Gene

  • Addgene plasmids for USP44

Sources for USP44 Gene