Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84101
Gene name	Ubiquitin specific peptidase 44
Gene symbol	USP44
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12q22
Summary	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

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017223	hsa-miR-335-5p	Microarray	18185580
MIRT533307	hsa-miR-1276	PAR-CLIP	22012620
MIRT533306	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT533304	hsa-miR-4422	PAR-CLIP	22012620
MIRT533305	hsa-miR-4275	PAR-CLIP	22012620
MIRT533303	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT533302	hsa-miR-4260	PAR-CLIP	22012620
MIRT533301	hsa-miR-5572	PAR-CLIP	22012620
MIRT533307	hsa-miR-1276	PAR-CLIP	22012620
MIRT533306	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT533304	hsa-miR-4422	PAR-CLIP	22012620
MIRT533305	hsa-miR-4275	PAR-CLIP	22012620
MIRT533303	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT533302	hsa-miR-4260	PAR-CLIP	22012620
MIRT533301	hsa-miR-5572	PAR-CLIP	22012620
MIRT1479754	hsa-let-7a	CLIP-seq
MIRT1479755	hsa-let-7b	CLIP-seq
MIRT1479756	hsa-let-7c	CLIP-seq
MIRT1479757	hsa-let-7d	CLIP-seq
MIRT1479758	hsa-let-7e	CLIP-seq
MIRT1479759	hsa-let-7f	CLIP-seq
MIRT1479760	hsa-let-7g	CLIP-seq
MIRT1479761	hsa-let-7i	CLIP-seq
MIRT1479762	hsa-miR-1273f	CLIP-seq
MIRT1479763	hsa-miR-143	CLIP-seq
MIRT1479764	hsa-miR-202	CLIP-seq
MIRT1479765	hsa-miR-30a	CLIP-seq
MIRT1479766	hsa-miR-30b	CLIP-seq
MIRT1479767	hsa-miR-30c	CLIP-seq
MIRT1479768	hsa-miR-30d	CLIP-seq
MIRT1479769	hsa-miR-30e	CLIP-seq
MIRT1479770	hsa-miR-3146	CLIP-seq
MIRT1479771	hsa-miR-3591-3p	CLIP-seq
MIRT1479772	hsa-miR-4305	CLIP-seq
MIRT1479773	hsa-miR-4458	CLIP-seq
MIRT1479774	hsa-miR-4500	CLIP-seq
MIRT1479775	hsa-miR-4649-3p	CLIP-seq
MIRT1479776	hsa-miR-4708-5p	CLIP-seq
MIRT1479777	hsa-miR-4770	CLIP-seq
MIRT1479778	hsa-miR-583	CLIP-seq
MIRT1479779	hsa-miR-622	CLIP-seq
MIRT1479780	hsa-miR-98	CLIP-seq
MIRT1479754	hsa-let-7a	CLIP-seq
MIRT1479755	hsa-let-7b	CLIP-seq
MIRT1479756	hsa-let-7c	CLIP-seq
MIRT1479757	hsa-let-7d	CLIP-seq
MIRT1479758	hsa-let-7e	CLIP-seq
MIRT1479759	hsa-let-7f	CLIP-seq
MIRT1479760	hsa-let-7g	CLIP-seq
MIRT1479761	hsa-let-7i	CLIP-seq
MIRT1479781	hsa-miR-1236	CLIP-seq
MIRT1479764	hsa-miR-202	CLIP-seq
MIRT1479773	hsa-miR-4458	CLIP-seq
MIRT1479774	hsa-miR-4500	CLIP-seq
MIRT1479775	hsa-miR-4649-3p	CLIP-seq
MIRT1479782	hsa-miR-4729	CLIP-seq
MIRT1479783	hsa-miR-4753-3p	CLIP-seq
MIRT1479784	hsa-miR-4768-5p	CLIP-seq
MIRT1479785	hsa-miR-4775	CLIP-seq
MIRT1479778	hsa-miR-583	CLIP-seq
MIRT1479786	hsa-miR-590-3p	CLIP-seq
MIRT1479779	hsa-miR-622	CLIP-seq
MIRT1479780	hsa-miR-98	CLIP-seq
MIRT1921033	hsa-miR-615-3p	CLIP-seq
MIRT1479754	hsa-let-7a	CLIP-seq
MIRT1479755	hsa-let-7b	CLIP-seq
MIRT1479756	hsa-let-7c	CLIP-seq
MIRT1479757	hsa-let-7d	CLIP-seq
MIRT1479758	hsa-let-7e	CLIP-seq
MIRT1479759	hsa-let-7f	CLIP-seq
MIRT1479760	hsa-let-7g	CLIP-seq
MIRT1479761	hsa-let-7i	CLIP-seq
MIRT1479764	hsa-miR-202	CLIP-seq
MIRT1479773	hsa-miR-4458	CLIP-seq
MIRT1479774	hsa-miR-4500	CLIP-seq
MIRT1479775	hsa-miR-4649-3p	CLIP-seq
MIRT1479778	hsa-miR-583	CLIP-seq
MIRT1479779	hsa-miR-622	CLIP-seq
MIRT1479780	hsa-miR-98	CLIP-seq
MIRT1479754	hsa-let-7a	CLIP-seq
MIRT1479755	hsa-let-7b	CLIP-seq
MIRT1479756	hsa-let-7c	CLIP-seq
MIRT1479757	hsa-let-7d	CLIP-seq
MIRT1479758	hsa-let-7e	CLIP-seq
MIRT1479759	hsa-let-7f	CLIP-seq
MIRT1479760	hsa-let-7g	CLIP-seq
MIRT1479761	hsa-let-7i	CLIP-seq
MIRT1479764	hsa-miR-202	CLIP-seq
MIRT1479765	hsa-miR-30a	CLIP-seq
MIRT1479766	hsa-miR-30b	CLIP-seq
MIRT1479767	hsa-miR-30c	CLIP-seq
MIRT1479768	hsa-miR-30d	CLIP-seq
MIRT1479769	hsa-miR-30e	CLIP-seq
MIRT1479771	hsa-miR-3591-3p	CLIP-seq
MIRT1479773	hsa-miR-4458	CLIP-seq
MIRT1479774	hsa-miR-4500	CLIP-seq
MIRT1479775	hsa-miR-4649-3p	CLIP-seq
MIRT1479778	hsa-miR-583	CLIP-seq
MIRT1479779	hsa-miR-622	CLIP-seq
MIRT1479780	hsa-miR-98	CLIP-seq
MIRT1479754	hsa-let-7a	CLIP-seq
MIRT1479755	hsa-let-7b	CLIP-seq
MIRT1479756	hsa-let-7c	CLIP-seq
MIRT1479757	hsa-let-7d	CLIP-seq
MIRT1479758	hsa-let-7e	CLIP-seq
MIRT1479759	hsa-let-7f	CLIP-seq
MIRT1479760	hsa-let-7g	CLIP-seq
MIRT1479761	hsa-let-7i	CLIP-seq
MIRT1479764	hsa-miR-202	CLIP-seq
MIRT1479773	hsa-miR-4458	CLIP-seq
MIRT1479774	hsa-miR-4500	CLIP-seq
MIRT1479775	hsa-miR-4649-3p	CLIP-seq
MIRT1479778	hsa-miR-583	CLIP-seq
MIRT1479779	hsa-miR-622	CLIP-seq
MIRT1479780	hsa-miR-98	CLIP-seq
MIRT2463058	hsa-miR-142-5p	CLIP-seq
MIRT2463059	hsa-miR-3658	CLIP-seq
MIRT2463060	hsa-miR-561	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISS	33937266
GO:0002376	Process	Immune system process	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	14715245, 17443180, 20402667
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	17443180, 20402667
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	17443180, 19615732, 28514442, 32644293, 33961781
GO:0005634	Component	Nucleus	IDA	32644293
GO:0005634	Component	Nucleus	IDA	20402667
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IC	31968013
GO:0005737	Component	Cytoplasm	IEA
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006508	Process	Proteolysis	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010564	Process	Regulation of cell cycle process	IBA
GO:0016579	Process	Protein deubiquitination	IDA	17443180, 20402667
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0045066	Process	Regulatory T cell differentiation	IDA	32644293
GO:0045066	Process	Regulatory T cell differentiation	IDA	32644293
GO:0045087	Process	Innate immune response	IEA
GO:0045841	Process	Negative regulation of mitotic metaphase/anaphase transition	IDA	17443180
GO:0045842	Process	Positive regulation of mitotic metaphase/anaphase transition	IDA	9637688
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0072686	Component	Mitotic spindle	IC	17443180
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	IEA
GO:0090266	Process	Regulation of mitotic cell cycle spindle assembly checkpoint	ISS
GO:0101005	Function	Deubiquitinase activity	IDA	17443180, 31968013, 32644293
GO:0101005	Function	Deubiquitinase activity	ISS	33937266
GO:0140374	Process	Antiviral innate immune response	IDA	21074459, 22394562
GO:0140374	Process	Antiviral innate immune response	IDA	31968013
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IMP	17443180

MIM	HGNC	e!Ensembl
610993	20064	ENSG00000136014

Q9H0E7

Protein name

Ubiquitin carboxyl-terminal hydrolase 44 (EC 3.4.19.12) (Deubiquitinating enzyme 44) (Ubiquitin thioesterase 44) (Ubiquitin-specific-processing protease 44)

Protein 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 promo

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02148	zf-UBP	29 → 91	Zn-finger in ubiquitin-hydrolases and other protein	Domain
PF00443	UCH	273 → 675	Ubiquitin carboxyl-terminal hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia. {ECO:0000269|PubMed:14715245, ECO:0000269|PubMed:21853124}.

Sequence

MLAMDTCKHVGQLQLAQDHSSLNPQKWHCVDCNTTESIWACLSCSHVACGRYIEEHALKH
FQESSHPVALEVNEMYVFCYLCDDYVLNDNTTGDLKLLRRTLSAIKSQNYHCTTRSGRFL
RSMGTGDDSYFLHDGAQSLLQSEDQLYTALWHRRRILMGKIFRTWFEQSPIGRKKQEEPF
QEKIVVKREVKKRRQELEYQVKAELESMPPRKSLRLQGLAQSTIIEIVSVQVPAQTPASP
AKDKVLSTSENEISQKVSDSSVKRRPIVTPGVTGLRNLGNTCYMNSVLQVLSHLLIFRQC
FLKLDLNQWLAMTASEKTRSCKHPPVTDTVVYQMNECQEKDTGFVCSRQSSLSSGLSGGA
SKGRKMELIQPKEPTSQYISLCHELHTLFQVMWSGKWALVSPFAMLHSVWRLIPAFRGYA
QQDAQEFLCELLDKIQRELETTGTSLPALIPTSQRKLIKQVLNVVNNIFHGQLLSQVTCL
ACDNKSNTIEPFWDLSLEFPERYQCSGKDIASQPCLVTEMLAKFTETEALEGKIYVCDQC
NSKRRRFSSKPVVLTEAQKQLMICHLPQVLRLHLKRFRWSGRNNREKIGVHVGFEEILNM
EPYCCRETLKSLRPECFIYDLSAVVMHHGKGFGSGHYTAYCYNSEGGFWVHCNDSKLSMC
TMDEVCKAQAYILFYTQRVTENGHSKLLPPELLLGSQHPNEDADTSSNEILS

Sequence length

712

Interactions

View interactions

	Reactome
			Ub-specific processing proteases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USP44-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	24837038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	24837038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	21853124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	24837038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	28544703	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31497353		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30639577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26232424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27880911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28492742, 30622230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35079021	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37204480, 38097536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23187126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32164618, 32633782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	28544703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24837038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24837038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32285989	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34502231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28938551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32934196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28397838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34502231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	21853124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26232424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23187126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31497353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30622230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28544703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23187126, 24837038, 26232424, 28157208, 28544703, 28938551, 30622230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28157208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35079021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23187126, 23187131, 24837038, 28157208, 28544703, 28938551, 29089486, 30622230, 31197957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31197957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31497353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30622230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30622230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28544703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28544703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

USP44 (ubiquitin specific peptidase 44)