USP48 (ubiquitin specific peptidase 48)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84196
• Gene name: Ubiquitin specific peptidase 48
• Gene symbol: USP48
• Synonyms (NCBI Gene): DFNA85, RAP1GA1, USP31
• 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

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 617445
• HGNC: 18533
• e!Ensembl: ENSG00000090686

Protein

• UniProt ID: 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

Pathways

Reactome Pathway:

Ub-specific processing proteases

Associated diseases

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)

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

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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	18316681	★★☆☆☆ 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	29212778	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	30093687	★★☆☆☆ 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	30718926	★★☆☆☆ 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	30718926, 32514122, 32541925, 34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GPR156 2 shared diseasesIsolated sensorineural deafness, Deafness 5 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Deafness), HPO (Deafness), GenCC (Hearing loss), ClinVar (Hearing loss) Related via 2 shared diseases including Isolated sensorineural deafness, Deafness — evidence mostly Disgenet. MPZL2 2 shared diseasesIsolated sensorineural deafness, Deafness 5 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Deafness), HPO (Deafness), GenCC (Hearing loss), ClinVar (Hearing loss) Related via 2 shared diseases including Isolated sensorineural deafness, Deafness — evidence mostly Disgenet. MINAR2 2 shared diseasesIsolated sensorineural deafness, Deafness 5 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Deafness), HPO (Deafness), GenCC (Hearing loss), ClinVar (Hearing loss) Related via 2 shared diseases including Isolated sensorineural deafness, Deafness — evidence mostly Disgenet. GRAP 2 shared diseasesIsolated sensorineural deafness, Deafness 4 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hearing loss) Related via 2 shared diseases including Isolated sensorineural deafness, Deafness — evidence mostly Disgenet. STX4 2 shared diseasesIsolated sensorineural deafness, Deafness 4 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hearing loss) Related via 2 shared diseases including Isolated sensorineural deafness, Deafness — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GPR156	2	["Isolated sensorineural deafness","Deafness"]	0	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GenCC (Hearing loss)","ClinVar (Hearing loss)"]
MPZL2	2	["Isolated sensorineural deafness","Deafness"]	0	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GenCC (Hearing loss)","ClinVar (Hearing loss)"]
MINAR2	2	["Isolated sensorineural deafness","Deafness"]	0	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GenCC (Hearing loss)","ClinVar (Hearing loss)"]
GRAP	2	["Isolated sensorineural deafness","Deafness"]	0	[]	4	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hearing loss)"]
STX4	2	["Isolated sensorineural deafness","Deafness"]	0	[]	4	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hearing loss)"]

Diseases Linked via Similar Genes

Nonsyndromic hearing loss Linked via 3 of 5 related genesGPR156, MINAR2, STX4 nonsyndromic genetic hearing loss Linked via 2 of 5 related genesMPZL2, GRAP Crohn disease Linked via 1 of 5 related genesMPZL2 Inflammatory bowel disease Linked via 1 of 5 related genesMPZL2 Lung cancer Linked via 1 of 5 related genesMPZL2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Nonsyndromic hearing loss	3	["GPR156","MINAR2","STX4"]
nonsyndromic genetic hearing loss	2	["MPZL2","GRAP"]
Crohn disease	1	["MPZL2"]
Inflammatory bowel disease	1	["MPZL2"]
Lung cancer	1	["MPZL2"]