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	84196
Gene name	Ubiquitin specific peptidase 48
Gene symbol	USP48
Synonyms (NCBI Gene)	DFNA85RAP1GA1USP31
Chromosome	1
Chromosome location	1p36.12
Summary	This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide

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Show/Hide all (301)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002595	hsa-miR-124-3p	Microarray	15685193
MIRT019401	hsa-miR-148b-3p	Microarray	17612493
MIRT002595	hsa-miR-124-3p	Microarray;Other	15685193
MIRT553032	hsa-miR-3609	HITS-CLIP	21572407
MIRT553033	hsa-miR-548ah-5p	HITS-CLIP	21572407
MIRT553040	hsa-miR-106a-5p	HITS-CLIP	21572407
MIRT553041	hsa-miR-106b-5p	HITS-CLIP	21572407
MIRT553037	hsa-miR-17-5p	HITS-CLIP	21572407
MIRT553034	hsa-miR-20a-5p	HITS-CLIP	21572407
MIRT553035	hsa-miR-20b-5p	HITS-CLIP	21572407
MIRT553036	hsa-miR-519d-3p	HITS-CLIP	21572407
MIRT553039	hsa-miR-526b-3p	HITS-CLIP	21572407
MIRT553038	hsa-miR-93-5p	HITS-CLIP	21572407
MIRT553031	hsa-miR-4796-3p	HITS-CLIP	21572407
MIRT553030	hsa-miR-892a	HITS-CLIP	21572407
MIRT553029	hsa-miR-1246	HITS-CLIP	21572407
MIRT553028	hsa-miR-3167	HITS-CLIP	21572407
MIRT553027	hsa-miR-876-5p	HITS-CLIP	21572407
MIRT553026	hsa-miR-1290	HITS-CLIP	21572407
MIRT553025	hsa-miR-134-5p	HITS-CLIP	21572407
MIRT553024	hsa-miR-3118	HITS-CLIP	21572407
MIRT553023	hsa-miR-943	HITS-CLIP	21572407
MIRT553022	hsa-miR-1305	HITS-CLIP	21572407
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546116	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546115	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546114	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546113	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT546111	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT546109	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT546108	hsa-miR-548p	PAR-CLIP	20371350
MIRT546107	hsa-miR-646	PAR-CLIP	20371350
MIRT546106	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT546105	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546100	hsa-let-7i-3p	PAR-CLIP	20371350
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546116	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546115	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546114	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546113	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT546111	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT546109	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT546108	hsa-miR-548p	PAR-CLIP	20371350
MIRT546107	hsa-miR-646	PAR-CLIP	20371350
MIRT546106	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT546105	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546100	hsa-let-7i-3p	PAR-CLIP	20371350
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546116	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546115	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546114	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546113	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT546111	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546109	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT546108	hsa-miR-548p	PAR-CLIP	21572407
MIRT546107	hsa-miR-646	PAR-CLIP	21572407
MIRT546106	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT546105	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546100	hsa-let-7i-3p	PAR-CLIP	21572407
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT553041	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT553040	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT553039	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT553038	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT553037	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT553036	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT553035	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT553034	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT553032	hsa-miR-3609	PAR-CLIP	21572407
MIRT553033	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT553031	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT553030	hsa-miR-892a	PAR-CLIP	21572407
MIRT553029	hsa-miR-1246	PAR-CLIP	21572407
MIRT553028	hsa-miR-3167	PAR-CLIP	21572407
MIRT553027	hsa-miR-876-5p	PAR-CLIP	21572407
MIRT553026	hsa-miR-1290	PAR-CLIP	21572407
MIRT553025	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT553024	hsa-miR-3118	PAR-CLIP	21572407
MIRT553023	hsa-miR-943	PAR-CLIP	21572407
MIRT553022	hsa-miR-1305	PAR-CLIP	21572407
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546116	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546115	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546114	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546113	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT546111	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546109	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT546108	hsa-miR-548p	PAR-CLIP	21572407
MIRT546107	hsa-miR-646	PAR-CLIP	21572407
MIRT546106	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT546105	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546100	hsa-let-7i-3p	PAR-CLIP	21572407
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT533315	hsa-miR-8063	PAR-CLIP	22012620
MIRT533314	hsa-miR-545-5p	PAR-CLIP	22012620
MIRT533313	hsa-miR-4539	PAR-CLIP	22012620
MIRT533312	hsa-miR-589-5p	PAR-CLIP	22012620
MIRT533311	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT533310	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT533309	hsa-miR-7153-5p	PAR-CLIP	22012620
MIRT533308	hsa-miR-580-3p	PAR-CLIP	22012620
MIRT553032	hsa-miR-3609	HITS-CLIP	21572407
MIRT553033	hsa-miR-548ah-5p	HITS-CLIP	21572407
MIRT553040	hsa-miR-106a-5p	HITS-CLIP	21572407
MIRT553041	hsa-miR-106b-5p	HITS-CLIP	21572407
MIRT553037	hsa-miR-17-5p	HITS-CLIP	21572407
MIRT553034	hsa-miR-20a-5p	HITS-CLIP	21572407
MIRT553035	hsa-miR-20b-5p	HITS-CLIP	21572407
MIRT553036	hsa-miR-519d-3p	HITS-CLIP	21572407
MIRT553039	hsa-miR-526b-3p	HITS-CLIP	21572407
MIRT553038	hsa-miR-93-5p	HITS-CLIP	21572407
MIRT553031	hsa-miR-4796-3p	HITS-CLIP	21572407
MIRT553030	hsa-miR-892a	HITS-CLIP	21572407
MIRT553029	hsa-miR-1246	HITS-CLIP	21572407
MIRT553028	hsa-miR-3167	HITS-CLIP	21572407
MIRT553027	hsa-miR-876-5p	HITS-CLIP	21572407
MIRT553026	hsa-miR-1290	HITS-CLIP	21572407
MIRT553025	hsa-miR-134-5p	HITS-CLIP	21572407
MIRT553024	hsa-miR-3118	HITS-CLIP	21572407
MIRT553023	hsa-miR-943	HITS-CLIP	21572407
MIRT553022	hsa-miR-1305	HITS-CLIP	21572407
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546116	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546115	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546114	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546113	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT546111	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT546109	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT546108	hsa-miR-548p	PAR-CLIP	20371350
MIRT546107	hsa-miR-646	PAR-CLIP	20371350
MIRT546106	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT546105	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546100	hsa-let-7i-3p	PAR-CLIP	20371350
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT546116	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT546115	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT546114	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT546113	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT546111	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT546109	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT546108	hsa-miR-548p	PAR-CLIP	20371350
MIRT546107	hsa-miR-646	PAR-CLIP	20371350
MIRT546106	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT546105	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT546100	hsa-let-7i-3p	PAR-CLIP	20371350
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546116	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546115	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546114	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546113	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT546111	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546109	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT546108	hsa-miR-548p	PAR-CLIP	21572407
MIRT546107	hsa-miR-646	PAR-CLIP	21572407
MIRT546106	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT546105	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546100	hsa-let-7i-3p	PAR-CLIP	21572407
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT553041	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT553040	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT553039	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT553038	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT553037	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT553036	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT553035	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT553034	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT553032	hsa-miR-3609	PAR-CLIP	21572407
MIRT553033	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT553031	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT553030	hsa-miR-892a	PAR-CLIP	21572407
MIRT553029	hsa-miR-1246	PAR-CLIP	21572407
MIRT553028	hsa-miR-3167	PAR-CLIP	21572407
MIRT553027	hsa-miR-876-5p	PAR-CLIP	21572407
MIRT553026	hsa-miR-1290	PAR-CLIP	21572407
MIRT553025	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT553024	hsa-miR-3118	PAR-CLIP	21572407
MIRT553023	hsa-miR-943	PAR-CLIP	21572407
MIRT553022	hsa-miR-1305	PAR-CLIP	21572407
MIRT546118	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT546117	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT546116	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT546115	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT546114	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT546113	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT546112	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT546111	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT546110	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT546109	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT546108	hsa-miR-548p	PAR-CLIP	21572407
MIRT546107	hsa-miR-646	PAR-CLIP	21572407
MIRT546106	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT546104	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT546105	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546103	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT546102	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT546101	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT546100	hsa-let-7i-3p	PAR-CLIP	21572407
MIRT546099	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT533315	hsa-miR-8063	PAR-CLIP	22012620
MIRT533314	hsa-miR-545-5p	PAR-CLIP	22012620
MIRT533313	hsa-miR-4539	PAR-CLIP	22012620
MIRT533312	hsa-miR-589-5p	PAR-CLIP	22012620
MIRT533311	hsa-miR-146a-5p	PAR-CLIP	22012620
MIRT533310	hsa-miR-146b-5p	PAR-CLIP	22012620
MIRT533309	hsa-miR-7153-5p	PAR-CLIP	22012620
MIRT533308	hsa-miR-580-3p	PAR-CLIP	22012620
MIRT1480195	hsa-miR-130a	CLIP-seq
MIRT1480196	hsa-miR-130b	CLIP-seq
MIRT1480197	hsa-miR-148a	CLIP-seq
MIRT1480198	hsa-miR-148b	CLIP-seq
MIRT1480199	hsa-miR-152	CLIP-seq
MIRT1480200	hsa-miR-2964a-5p	CLIP-seq
MIRT1480201	hsa-miR-301a	CLIP-seq
MIRT1480202	hsa-miR-301b	CLIP-seq
MIRT1480203	hsa-miR-3117-3p	CLIP-seq
MIRT1480204	hsa-miR-3666	CLIP-seq
MIRT1480205	hsa-miR-3692	CLIP-seq
MIRT1480206	hsa-miR-4295	CLIP-seq
MIRT1480207	hsa-miR-454	CLIP-seq
MIRT1480208	hsa-miR-4686	CLIP-seq
MIRT2364772	hsa-miR-124	CLIP-seq
MIRT2364773	hsa-miR-1297	CLIP-seq
MIRT2364774	hsa-miR-1302	CLIP-seq
MIRT1480195	hsa-miR-130a	CLIP-seq
MIRT1480196	hsa-miR-130b	CLIP-seq
MIRT1480197	hsa-miR-148a	CLIP-seq
MIRT1480198	hsa-miR-148b	CLIP-seq
MIRT1480199	hsa-miR-152	CLIP-seq
MIRT2364775	hsa-miR-205	CLIP-seq
MIRT2364776	hsa-miR-26a	CLIP-seq
MIRT2364777	hsa-miR-26b	CLIP-seq
MIRT1480200	hsa-miR-2964a-5p	CLIP-seq
MIRT1480201	hsa-miR-301a	CLIP-seq
MIRT1480202	hsa-miR-301b	CLIP-seq
MIRT2364778	hsa-miR-3122	CLIP-seq
MIRT1480204	hsa-miR-3666	CLIP-seq
MIRT2364779	hsa-miR-3714	CLIP-seq
MIRT2364780	hsa-miR-3910	CLIP-seq
MIRT2364781	hsa-miR-3913-5p	CLIP-seq
MIRT1480206	hsa-miR-4295	CLIP-seq
MIRT2364782	hsa-miR-4298	CLIP-seq
MIRT2364783	hsa-miR-4465	CLIP-seq
MIRT2364784	hsa-miR-4502	CLIP-seq
MIRT1480207	hsa-miR-454	CLIP-seq
MIRT1480208	hsa-miR-4686	CLIP-seq
MIRT2364785	hsa-miR-4704-3p	CLIP-seq
MIRT2364786	hsa-miR-494	CLIP-seq
MIRT2364787	hsa-miR-506	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0042995	Component	Cell projection	IEA
GO:0101005	Function	Deubiquitinase activity	IDA	34059922
GO:0101005	Function	Deubiquitinase activity	IEA

MIM	HGNC	e!Ensembl
617445	18533	ENSG00000090686

Q86UV5

Protein name

Ubiquitin carboxyl-terminal hydrolase 48 (EC 3.4.19.12) (Deubiquitinating enzyme 48) (Ubiquitin thioesterase 48) (Ubiquitin-specific peptidase 48) (Ubiquitin-specific protease 48) (Ubiquitin-specific-processing protease 48)

Protein function

Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (PubMed:16214042, PubMed:34059922). Plays a role

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00443	UCH	89 → 418	Ubiquitin carboxyl-terminal hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in the fetal inner ear (PubMed:34059922). {ECO:0000269|PubMed:14715245, ECO:0000269|PubMed:15354349, ECO:0000269|PubMed:16214042, ECO:0000269|PubMed:34059922}.

Sequence

MAPRLQLEKAAWRWAETVRPEEVSQEHIETAYRIWLEPCIRGVCRRNCKGNPNCLVGIGE
HIWLGEIDENSFHNIDDPNCERRKKNSFVGLTNLGATCYVNTFLQVWFLNLELRQALYLC
PSTCSDYMLGDGIQEEKDYEPQTICEHLQYLFALLQNSNRRYIDPSGFVKALGLDTGQQQ
DAQEFSKLFMSLLEDTLSKQKNPDVRNIVQQQFCGEYAYVTVCNQCGRESKLLSKFYELE
LNIQGHKQLTDCISEFLKEEKLEGDNRYFCENCQSKQNATRKIRLLSLPCTLNLQLMRFV
FDRQTGHKKKLNTYIGFSEILDMEPYVEHKGGSYVYELSAVLIHRGVSAYSGHYIAHVKD
PQSGEWYKFNDEDIEKMEGKKLQLGIEEDLAEPSKSQTRKPKCGKGTHCSRNAYMLVYRL
QTQEKPNTTVQVPAFLQELVDRDNSKFEEWCIEMAEMRKQSVDKGKAKHEEVKELYQRLP
AGAEPYEFVSLEWLQKWLDESTPTKPIDNHACLCSHDKLHPDKISIMKRISEYAADIFYS
RYGGGPRLTVKALCKECVVERCRILRLKNQLNEDYKTVNNLLKAAVKGSDGFWVGKSSLR
SWRQLALEQLDEQDGDAEQSNGKMNGSTLNKDESKEERKEEEELNFNEDILCPHGELCIS
ENERRLVSKEAWSKLQQYFPKAPEFPSYKECCSQCKILEREGEENEALHKMIANEQKTSL
PNLFQDKNRPCLSNWPEDTDVLYIVSQFFVEEWRKFVRKPTRCSPVSSVGNSALLCPHGG
LMFTFASMTKEDSKLIALIWPSEWQMIQKLFVVDHVIKITRIEVGDVNPSETQYISEPKL
CPECREGLLCQQQRDLREYTQATIYVHKVVDNKKVMKDSAPELNVSSSETEEDKEEAKPD
GEKDPDFNQSNGGTKRQKISHQNYIAYQKQVIRRSMRHRKVRGEKALLVSANQTLKELKI
QIMHAFSVAPFDQNLSIDGKILSDDCATLGTLGVIPESVILLKADEPIADYAAMDDVMQV
CMPEEGFKGTGLLGH

Sequence length

1035

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal dominant 85	Pathogenic	rs201971084, rs2550305195	RCV003152419 RCV003152420	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 85	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	30093687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	29901102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19545487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28623188, 34184746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	30718926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36508192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29891926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	29891926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	29891926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28623188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28623188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28623188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28623188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28623188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33713422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28623188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34184746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

USP48 (ubiquitin specific peptidase 48)