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.	57599
Gene name Gene Name - the full gene name approved by the HGNC.	WD repeat domain 48
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WDR48
Synonyms (NCBI Gene) Gene synonyms aliases	Bun62, P80, SPG60, UAF1
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p22.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated

Show/Hide all(229)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051598	hsa-let-7e-5p	CLASH	23622248
MIRT044190	hsa-miR-99b-5p	CLASH	23622248
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT1490814	hsa-miR-147	CLIP-seq
MIRT1490815	hsa-miR-2053	CLIP-seq
MIRT1490816	hsa-miR-3121-5p	CLIP-seq
MIRT1490817	hsa-miR-3132	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT1490819	hsa-miR-3668	CLIP-seq
MIRT1490820	hsa-miR-3911	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT1490823	hsa-miR-3935	CLIP-seq
MIRT1490824	hsa-miR-3974	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT1490826	hsa-miR-4506	CLIP-seq
MIRT1490827	hsa-miR-4797-5p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT1490829	hsa-miR-548v	CLIP-seq
MIRT1490830	hsa-miR-569	CLIP-seq
MIRT1490831	hsa-miR-574-5p	CLIP-seq
MIRT1490832	hsa-miR-577	CLIP-seq
MIRT1490833	hsa-miR-593	CLIP-seq
MIRT1490834	hsa-miR-644	CLIP-seq
MIRT1490835	hsa-miR-759	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147939	hsa-miR-3173-3p	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT1490828	hsa-miR-494	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2368383	hsa-miR-4643	CLIP-seq
MIRT2368384	hsa-miR-466	CLIP-seq
MIRT2368385	hsa-miR-4717-3p	CLIP-seq
MIRT2368386	hsa-miR-4789-3p	CLIP-seq
MIRT2368387	hsa-miR-4802-3p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2368388	hsa-miR-516a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2396951	hsa-miR-3924	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT2662038	hsa-miR-3685	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2662051	hsa-miR-4533	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662076	hsa-miR-765	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq
MIRT2662022	hsa-miR-103a	CLIP-seq
MIRT2662023	hsa-miR-107	CLIP-seq
MIRT2662024	hsa-miR-128	CLIP-seq
MIRT1490813	hsa-miR-1305	CLIP-seq
MIRT2466333	hsa-miR-132	CLIP-seq
MIRT2662025	hsa-miR-1587	CLIP-seq
MIRT2466334	hsa-miR-212	CLIP-seq
MIRT1921056	hsa-miR-2681	CLIP-seq
MIRT2662026	hsa-miR-302a	CLIP-seq
MIRT2662027	hsa-miR-302b	CLIP-seq
MIRT2662028	hsa-miR-302c	CLIP-seq
MIRT2662029	hsa-miR-302d	CLIP-seq
MIRT2662030	hsa-miR-302e	CLIP-seq
MIRT2662031	hsa-miR-3064-3p	CLIP-seq
MIRT2662032	hsa-miR-3065-3p	CLIP-seq
MIRT2662033	hsa-miR-3130-3p	CLIP-seq
MIRT2466335	hsa-miR-3136-3p	CLIP-seq
MIRT2147938	hsa-miR-3143	CLIP-seq
MIRT2662034	hsa-miR-3170	CLIP-seq
MIRT1490818	hsa-miR-3202	CLIP-seq
MIRT2147940	hsa-miR-331-5p	CLIP-seq
MIRT2662035	hsa-miR-338-3p	CLIP-seq
MIRT2662036	hsa-miR-3622b-5p	CLIP-seq
MIRT2662037	hsa-miR-3654	CLIP-seq
MIRT1921057	hsa-miR-3689a-3p	CLIP-seq
MIRT1921058	hsa-miR-3689c	CLIP-seq
MIRT1921059	hsa-miR-3689d	CLIP-seq
MIRT2466336	hsa-miR-3691-3p	CLIP-seq
MIRT2662039	hsa-miR-372	CLIP-seq
MIRT2662040	hsa-miR-373	CLIP-seq
MIRT1921060	hsa-miR-3913-3p	CLIP-seq
MIRT1490821	hsa-miR-3915	CLIP-seq
MIRT2662041	hsa-miR-3921	CLIP-seq
MIRT1490822	hsa-miR-3928	CLIP-seq
MIRT2662042	hsa-miR-3944-5p	CLIP-seq
MIRT2662043	hsa-miR-421	CLIP-seq
MIRT2662044	hsa-miR-4292	CLIP-seq
MIRT2662045	hsa-miR-4308	CLIP-seq
MIRT2662046	hsa-miR-4315	CLIP-seq
MIRT1921061	hsa-miR-4436a	CLIP-seq
MIRT1490825	hsa-miR-4476	CLIP-seq
MIRT2662047	hsa-miR-4492	CLIP-seq
MIRT2662048	hsa-miR-4498	CLIP-seq
MIRT2662049	hsa-miR-451b	CLIP-seq
MIRT2662050	hsa-miR-4530	CLIP-seq
MIRT2466337	hsa-miR-455-3p	CLIP-seq
MIRT2662052	hsa-miR-4638-3p	CLIP-seq
MIRT2662053	hsa-miR-4649-3p	CLIP-seq
MIRT2662054	hsa-miR-4653-5p	CLIP-seq
MIRT2662055	hsa-miR-4656	CLIP-seq
MIRT2662056	hsa-miR-4675	CLIP-seq
MIRT2466338	hsa-miR-4709-5p	CLIP-seq
MIRT2662057	hsa-miR-4715-3p	CLIP-seq
MIRT1921062	hsa-miR-4728-5p	CLIP-seq
MIRT2147941	hsa-miR-4738-3p	CLIP-seq
MIRT2662058	hsa-miR-4741	CLIP-seq
MIRT2662059	hsa-miR-4790-5p	CLIP-seq
MIRT2147942	hsa-miR-513a-3p	CLIP-seq
MIRT2662060	hsa-miR-520a-3p	CLIP-seq
MIRT2662061	hsa-miR-520a-5p	CLIP-seq
MIRT2662062	hsa-miR-520b	CLIP-seq
MIRT2662063	hsa-miR-520c-3p	CLIP-seq
MIRT2662064	hsa-miR-520d-3p	CLIP-seq
MIRT2662065	hsa-miR-520e	CLIP-seq
MIRT2662066	hsa-miR-525-5p	CLIP-seq
MIRT2147943	hsa-miR-543	CLIP-seq
MIRT2662067	hsa-miR-548a-3p	CLIP-seq
MIRT2662068	hsa-miR-548b-3p	CLIP-seq
MIRT2662069	hsa-miR-548e	CLIP-seq
MIRT2662070	hsa-miR-548f	CLIP-seq
MIRT2147944	hsa-miR-590-3p	CLIP-seq
MIRT2662071	hsa-miR-599	CLIP-seq
MIRT2662072	hsa-miR-619	CLIP-seq
MIRT2662073	hsa-miR-640	CLIP-seq
MIRT2662074	hsa-miR-649	CLIP-seq
MIRT2662075	hsa-miR-762	CLIP-seq
MIRT2662077	hsa-miR-767-3p	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0003677	Function	DNA binding	IDA	31253762
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	27239033
GO:0003697	Function	Single-stranded DNA binding	IDA	27239033
GO:0005515	Function	Protein binding	IPI	18082604, 19075014, 19615732, 24145035, 24981860, 26388029, 27239033, 27373336, 27463890, 27650958, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	18082604
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	18032488
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	27239033, 27463890
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	11972023
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035800	Function	Deubiquitinase activator activity	IDA	18082604, 19075014, 24145035, 31253762
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043588	Process	Skin development	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	37289831
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	37289831
GO:0048568	Process	Embryonic organ development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:1902525	Process	Regulation of protein monoubiquitination	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27239033, 27463890

MIM	HGNC	e!Ensembl
612167	30914	ENSG00000114742

Protein

UniProt ID

Q8TAF3

Protein name

WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80)

Protein function

Regulator of deubiquitinating complexes, which acts as a strong activator of USP1, USP12 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029, PubMed:31253762). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost ina

PDB

5CVL , 5CVN , 5CVO , 5K1A , 5K1B , 5K1C , 5L8E , 5L8W , 6JLQ , 7AY0 , 7AY1 , 7AY2 , 8A9J , 8A9K , 9EBS , 9HNW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	66 → 103	WD domain, G-beta repeat	Repeat
PF00400	WD40	107 → 145	WD domain, G-beta repeat	Repeat
PF00400	WD40	158 → 196	WD domain, G-beta repeat	Repeat
PF00400	WD40	200 → 238	WD domain, G-beta repeat	Repeat
PF11816	DUF3337	509 → 674	Domain of unknown function (DUF3337)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12196293}.

Sequence

MAAHHRQNTAGRRKVQVSYVIRDEVEKYNRNGVNALQLDPALNRLFTAGRDSIIRIWSVN
QHKQDPYIASMEHHTDWVNDIVLCCNGKTLISASSDTTVKVWNAHKGFCMSTLRTHKDYV
KALAYAKDKELVASAGLDRQIFLWDVNTLTALTASNNTVTTSSLSGNKDSIYSLAMNQLG
TIIVSGSTEKVLRVWDPRTCAKLMKLKGHTDNVKALLLNRDGTQCLSGSSDGTIRLWSLG
QQRCIATYRVHDEGVWALQVNDAFTHVYSGGRDRKIYCTDLRNPDIRVLICEEKAPVLKM
ELDRSADPPPAIWVATTKSTVNKWTLKGIHNFRASGDYDNDCTNPITPLCTQPDQVIKGG
ASIIQCHILNDKRHILTKDTNNNVAYWDVLKACKVEDLGKVDFEDEIKKRFKMVYVPNWF
SVDLKTGMLTITLDESDCFAAWVSAKDAGFSSPDGSDPKLNLGGLLLQALLEYWPRTHVN
PMDEEENEVNHVNGEQENRVQKGNGYFQVPPHTPVIFGEAGGRTLFRLLCRDSGGETESM
LLNETVPQWVIDITVDKNMPKFNKIPFYLQPHASSGAKTLKKDRLSASDMLQVRKVMEHV
YEKIINLDNESQTTSSSNNEKPGEQEKEEDIAVLAEEKIELLCQDQVLDPNMDLRTVKHF
IWKSGGDLTLHYRQKST

Sequence length

677

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Recognition of DNA damage by PCNA-containing replication complex Ub-specific processing proteases Fanconi Anemia Pathway Signaling by cytosolic PDGFRA and PDGFRB fusion proteins

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.
Hereditary spastic paraplegia	Hereditary spastic paraplegia	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Spastic Paraplegia	autosomal recessive spastic paraplegia type 60	N/A	N/A	GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	36403194
Carcinoma Non Small Cell Lung	Associate	22118673, 25229643
Colorectal Neoplasms	Associate	24145035
Drug Hypersensitivity	Associate	27239033
Fanconi Anemia	Associate	18082604, 19075014, 20147737, 22118673, 30890612, 31253762, 32350107, 33795880
Intracranial Aneurysm	Associate	26186006
Neoplasm Metastasis	Associate	36403194
Neoplasms	Associate	22701671, 24145035, 32951278
Prostatic Neoplasms	Associate	26462181
Triple Negative Breast Neoplasms	Associate	33461373

WDR48 (WD repeat domain 48)