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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	85015
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin specific peptidase 45
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	USP45
Synonyms (NCBI Gene) Gene synonyms aliases	LCA19
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q16.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protei

Show/Hide all(167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026646	hsa-miR-192-5p	Microarray	19074876
MIRT028362	hsa-miR-32-5p	Sequencing	20371350
MIRT051365	hsa-let-7f-5p	CLASH	23622248
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT1479787	hsa-miR-1184	CLIP-seq
MIRT1479788	hsa-miR-1205	CLIP-seq
MIRT1479789	hsa-miR-125a-5p	CLIP-seq
MIRT1479790	hsa-miR-125b	CLIP-seq
MIRT1479791	hsa-miR-1273f	CLIP-seq
MIRT1479792	hsa-miR-1286	CLIP-seq
MIRT1479793	hsa-miR-1291	CLIP-seq
MIRT1479794	hsa-miR-1323	CLIP-seq
MIRT1479795	hsa-miR-143	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT1479797	hsa-miR-3158-5p	CLIP-seq
MIRT1479798	hsa-miR-3199	CLIP-seq
MIRT1479799	hsa-miR-328	CLIP-seq
MIRT1479800	hsa-miR-3529	CLIP-seq
MIRT1479801	hsa-miR-3609	CLIP-seq
MIRT1479802	hsa-miR-3616-5p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT1479805	hsa-miR-3647-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT1479807	hsa-miR-379	CLIP-seq
MIRT1479808	hsa-miR-3927	CLIP-seq
MIRT1479809	hsa-miR-4282	CLIP-seq
MIRT1479810	hsa-miR-4319	CLIP-seq
MIRT1479811	hsa-miR-4324	CLIP-seq
MIRT1479812	hsa-miR-4477b	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT1479814	hsa-miR-4648	CLIP-seq
MIRT1479815	hsa-miR-466	CLIP-seq
MIRT1479816	hsa-miR-4694-3p	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479818	hsa-miR-4708-5p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT1479820	hsa-miR-4722-5p	CLIP-seq
MIRT1479821	hsa-miR-4763-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT1479823	hsa-miR-4770	CLIP-seq
MIRT1479824	hsa-miR-4789-3p	CLIP-seq
MIRT1479825	hsa-miR-4793-3p	CLIP-seq
MIRT1479826	hsa-miR-4795-5p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479829	hsa-miR-513a-3p	CLIP-seq
MIRT1479830	hsa-miR-520g	CLIP-seq
MIRT1479831	hsa-miR-520h	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT1479833	hsa-miR-548ag	CLIP-seq
MIRT1479834	hsa-miR-548ah	CLIP-seq
MIRT1479835	hsa-miR-548ai	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT1479837	hsa-miR-548o	CLIP-seq
MIRT1479838	hsa-miR-573	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT1479840	hsa-miR-607	CLIP-seq
MIRT1479841	hsa-miR-619	CLIP-seq
MIRT1479842	hsa-miR-633	CLIP-seq
MIRT1479843	hsa-miR-643	CLIP-seq
MIRT2144446	hsa-miR-1182	CLIP-seq
MIRT2144447	hsa-miR-2681	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT2144448	hsa-miR-3682-5p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2144451	hsa-miR-3942-3p	CLIP-seq
MIRT2144452	hsa-miR-433	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT2144453	hsa-miR-4694-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2144454	hsa-miR-483-3p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT2364663	hsa-miR-1183	CLIP-seq
MIRT2364664	hsa-miR-1265	CLIP-seq
MIRT2364665	hsa-miR-1343	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364667	hsa-miR-2054	CLIP-seq
MIRT2364668	hsa-miR-2355-5p	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT2364669	hsa-miR-3124-3p	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2364671	hsa-miR-378g	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2364672	hsa-miR-3936	CLIP-seq
MIRT2364673	hsa-miR-4286	CLIP-seq
MIRT2364674	hsa-miR-4437	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364678	hsa-miR-4674	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2364680	hsa-miR-4778-5p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364682	hsa-miR-548a-3p	CLIP-seq
MIRT2364683	hsa-miR-548an	CLIP-seq
MIRT2364684	hsa-miR-548e	CLIP-seq
MIRT2364685	hsa-miR-548f	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT2364686	hsa-miR-570	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT2364687	hsa-miR-616	CLIP-seq
MIRT2364688	hsa-miR-664	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq
MIRT2364690	hsa-miR-892a	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	30573563
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003407	Process	Neural retina development	ISS
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	14715245
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	25538220, 30258100
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	25538220, 30258100
GO:0005634	Component	Nucleus	IDA	25538220
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	25538220
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IMP	25538220
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016477	Process	Cell migration	IMP	30258100
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	25538220
GO:0016787	Function	Hydrolase activity	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0070911	Process	Global genome nucleotide-excision repair	TAS

MIM	HGNC	e!Ensembl
618439	20080	ENSG00000123552

Protein

UniProt ID

Q70EL2

Protein name

Ubiquitin carboxyl-terminal hydrolase 45 (EC 3.4.19.12) (Deubiquitinating enzyme 45) (Ubiquitin thioesterase 45) (Ubiquitin-specific-processing protease 45)

Protein function

Catalyzes the deubiquitination of SPDL1 (PubMed:30258100). Plays a role in the repair of UV-induced DNA damage via deubiquitination of ERCC1, promoting its recruitment to DNA damage sites (PubMed:25538220). May be involved in the maintenance of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02148	zf-UBP	61 → 139	Zn-finger in ubiquitin-hydrolases and other protein	Domain
PF00443	UCH	190 → 810	Ubiquitin carboxyl-terminal hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. High expression is detected in the cerebellum. In the eye, it is expressed at high levels in the optic nerve, sclera and retina, with relatively low levels in the choroid, lens and retinal pigment epithelium (PubMed:3

Sequence

MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHAISVNHVKRAIAENLWS
VCSECLKERRFYDGQLVLTSDIWLCLKCGFQGCGKNSESQHSLKHFKSSRTEPHCIIINL
STWIIWCYECDEKLSTHCNKKVLAQIVDFLQKHASKTQTSAFSRIMKLCEEKCETDEIQK
GGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLMNEIKESSTKLKIFPSSDSQLDP
LVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLFNQLCQKAPRFKDFQQQDSQELLHY
LLDAVRTEETKRIQASILKAFNNPTTKTADDETRKKVKAYGKEGVKMNFIDRIFIGELTS
TVMCEECANISTVKDPFIDISLPIIEERVSKPLLWGRMNKYRSLRETDHDRYSGNVTIEN
IHQPRAAKKHSSSKDKSQLIHDRKCIRKLSSGETVTYQKNENLEMNGDSLMFASLMNSES
RLNESPTDDSEKEASHSESNVDADSEPSESESASKQTGLFRSSSGSGVQPDGPLYPLSAG
KLLYTKETDSGDKEMAEAISELRLSSTVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSP
QNAFQTLSQSYITTSKECSIQSCLYQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEK
KVEGVYTNARKQLLISAVPAVLILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCK
NASVGDKVLYGLYGIVEHSGSMREGHYTAYVKVRTPSRKLSEHNTKKKNVPGLKAADNES
AGQWVHVSDTYLQVVPESRALSAQAYLLFYERVL

Sequence length

814

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		Formation of Incision Complex in GG-NER

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	Leber congenital amaurosis 19	rs202240410	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Growth Disorders	Associate	30809043
Multiple Myeloma	Associate	29389935

USP45 (ubiquitin specific peptidase 45)