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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84881
Gene name	RNA pseudouridine synthase D4
Gene symbol	RPUSD4
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11q24.2

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019506	hsa-miR-151a-3p	Sequencing	20371350
MIRT019947	hsa-miR-375	Microarray	20215506
MIRT020075	hsa-miR-361-5p	Sequencing	20371350
MIRT047778	hsa-miR-30d-5p	CLASH	23622248
MIRT1319279	hsa-miR-1253	CLIP-seq
MIRT1319280	hsa-miR-30a	CLIP-seq
MIRT1319281	hsa-miR-30b	CLIP-seq
MIRT1319282	hsa-miR-30c	CLIP-seq
MIRT1319283	hsa-miR-30d	CLIP-seq
MIRT1319284	hsa-miR-30e	CLIP-seq
MIRT1319285	hsa-miR-3133	CLIP-seq
MIRT1319286	hsa-miR-3607-3p	CLIP-seq
MIRT1319287	hsa-miR-4524	CLIP-seq
MIRT1319288	hsa-miR-4670-3p	CLIP-seq
MIRT1319289	hsa-miR-4773	CLIP-seq
MIRT1319290	hsa-miR-486-5p	CLIP-seq
MIRT1319279	hsa-miR-1253	CLIP-seq
MIRT1319291	hsa-miR-1294	CLIP-seq
MIRT1319292	hsa-miR-1305	CLIP-seq
MIRT1319293	hsa-miR-142-3p	CLIP-seq
MIRT1319294	hsa-miR-1539	CLIP-seq
MIRT1319295	hsa-miR-183	CLIP-seq
MIRT1319296	hsa-miR-1915	CLIP-seq
MIRT1319297	hsa-miR-23a	CLIP-seq
MIRT1319298	hsa-miR-23b	CLIP-seq
MIRT1319299	hsa-miR-23c	CLIP-seq
MIRT1319280	hsa-miR-30a	CLIP-seq
MIRT1319281	hsa-miR-30b	CLIP-seq
MIRT1319282	hsa-miR-30c	CLIP-seq
MIRT1319283	hsa-miR-30d	CLIP-seq
MIRT1319284	hsa-miR-30e	CLIP-seq
MIRT1319300	hsa-miR-3127-5p	CLIP-seq
MIRT1319285	hsa-miR-3133	CLIP-seq
MIRT1319286	hsa-miR-3607-3p	CLIP-seq
MIRT1319301	hsa-miR-4316	CLIP-seq
MIRT1319302	hsa-miR-4426	CLIP-seq
MIRT1319287	hsa-miR-4524	CLIP-seq
MIRT1319303	hsa-miR-4647	CLIP-seq
MIRT1319304	hsa-miR-4662b	CLIP-seq
MIRT1319288	hsa-miR-4670-3p	CLIP-seq
MIRT1319305	hsa-miR-4686	CLIP-seq
MIRT1319306	hsa-miR-4722-3p	CLIP-seq
MIRT1319307	hsa-miR-4726-3p	CLIP-seq
MIRT1319308	hsa-miR-4763-5p	CLIP-seq
MIRT1319309	hsa-miR-4769-3p	CLIP-seq
MIRT1319289	hsa-miR-4773	CLIP-seq
MIRT1319290	hsa-miR-486-5p	CLIP-seq
MIRT1319310	hsa-miR-498	CLIP-seq
MIRT1319311	hsa-miR-548n	CLIP-seq
MIRT1319312	hsa-miR-640	CLIP-seq
MIRT1319313	hsa-miR-648	CLIP-seq
MIRT1319314	hsa-miR-764	CLIP-seq
MIRT2094897	hsa-miR-145	CLIP-seq
MIRT2094898	hsa-miR-3180-5p	CLIP-seq
MIRT2094899	hsa-miR-3189-5p	CLIP-seq
MIRT2094900	hsa-miR-346	CLIP-seq
MIRT2094901	hsa-miR-4704-3p	CLIP-seq
MIRT2094902	hsa-miR-4758-3p	CLIP-seq
MIRT2094903	hsa-miR-515-5p	CLIP-seq
MIRT2094904	hsa-miR-622	CLIP-seq
MIRT1319279	hsa-miR-1253	CLIP-seq
MIRT2319272	hsa-miR-3691-3p	CLIP-seq
MIRT1319287	hsa-miR-4524	CLIP-seq
MIRT1319288	hsa-miR-4670-3p	CLIP-seq
MIRT2614836	hsa-miR-1178	CLIP-seq
MIRT2614837	hsa-miR-1224-3p	CLIP-seq
MIRT2614838	hsa-miR-1254	CLIP-seq
MIRT2614839	hsa-miR-1260	CLIP-seq
MIRT2614840	hsa-miR-1260b	CLIP-seq
MIRT2614841	hsa-miR-1280	CLIP-seq
MIRT2614842	hsa-miR-1284	CLIP-seq
MIRT2614843	hsa-miR-1285	CLIP-seq
MIRT2614844	hsa-miR-1291	CLIP-seq
MIRT1319291	hsa-miR-1294	CLIP-seq
MIRT2614845	hsa-miR-1321	CLIP-seq
MIRT1319293	hsa-miR-142-3p	CLIP-seq
MIRT2614846	hsa-miR-151-3p	CLIP-seq
MIRT2614847	hsa-miR-199a-3p	CLIP-seq
MIRT2614848	hsa-miR-199b-3p	CLIP-seq
MIRT2614849	hsa-miR-2115	CLIP-seq
MIRT2614850	hsa-miR-2355-5p	CLIP-seq
MIRT1319297	hsa-miR-23a	CLIP-seq
MIRT1319298	hsa-miR-23b	CLIP-seq
MIRT1319299	hsa-miR-23c	CLIP-seq
MIRT2614851	hsa-miR-28-3p	CLIP-seq
MIRT2614852	hsa-miR-3116	CLIP-seq
MIRT2614853	hsa-miR-3129-5p	CLIP-seq
MIRT2614854	hsa-miR-3145-5p	CLIP-seq
MIRT2614855	hsa-miR-3187-5p	CLIP-seq
MIRT2094899	hsa-miR-3189-5p	CLIP-seq
MIRT2614856	hsa-miR-328	CLIP-seq
MIRT2614857	hsa-miR-342-3p	CLIP-seq
MIRT2094900	hsa-miR-346	CLIP-seq
MIRT2614858	hsa-miR-3607-5p	CLIP-seq
MIRT2614859	hsa-miR-3619-3p	CLIP-seq
MIRT2614860	hsa-miR-3664-5p	CLIP-seq
MIRT2614861	hsa-miR-3679-3p	CLIP-seq
MIRT2614862	hsa-miR-3692	CLIP-seq
MIRT2614863	hsa-miR-376c	CLIP-seq
MIRT2614864	hsa-miR-378g	CLIP-seq
MIRT2614865	hsa-miR-4261	CLIP-seq
MIRT2614866	hsa-miR-4270	CLIP-seq
MIRT2614867	hsa-miR-4272	CLIP-seq
MIRT2614868	hsa-miR-4279	CLIP-seq
MIRT2614869	hsa-miR-4292	CLIP-seq
MIRT2614870	hsa-miR-4293	CLIP-seq
MIRT2614871	hsa-miR-4308	CLIP-seq
MIRT1319301	hsa-miR-4316	CLIP-seq
MIRT2614872	hsa-miR-4436b-3p	CLIP-seq
MIRT2614873	hsa-miR-4437	CLIP-seq
MIRT2614874	hsa-miR-4441	CLIP-seq
MIRT2614875	hsa-miR-4463	CLIP-seq
MIRT2614876	hsa-miR-4468	CLIP-seq
MIRT2614877	hsa-miR-4499	CLIP-seq
MIRT2614878	hsa-miR-450b-5p	CLIP-seq
MIRT2614879	hsa-miR-4511	CLIP-seq
MIRT2614880	hsa-miR-4663	CLIP-seq
MIRT2614881	hsa-miR-4674	CLIP-seq
MIRT1319305	hsa-miR-4686	CLIP-seq
MIRT2614882	hsa-miR-4696	CLIP-seq
MIRT2614883	hsa-miR-4714-3p	CLIP-seq
MIRT1319306	hsa-miR-4722-3p	CLIP-seq
MIRT2614884	hsa-miR-4739	CLIP-seq
MIRT2614885	hsa-miR-4756-3p	CLIP-seq
MIRT2614886	hsa-miR-4756-5p	CLIP-seq
MIRT2094902	hsa-miR-4758-3p	CLIP-seq
MIRT2614887	hsa-miR-4761-3p	CLIP-seq
MIRT2614888	hsa-miR-4761-5p	CLIP-seq
MIRT1319308	hsa-miR-4763-5p	CLIP-seq
MIRT1319309	hsa-miR-4769-3p	CLIP-seq
MIRT1319289	hsa-miR-4773	CLIP-seq
MIRT2614889	hsa-miR-4776-5p	CLIP-seq
MIRT2614890	hsa-miR-4786-5p	CLIP-seq
MIRT2614891	hsa-miR-4789-5p	CLIP-seq
MIRT2614892	hsa-miR-483-3p	CLIP-seq
MIRT2614893	hsa-miR-502-5p	CLIP-seq
MIRT2614894	hsa-miR-545	CLIP-seq
MIRT2614895	hsa-miR-548b-3p	CLIP-seq
MIRT1319311	hsa-miR-548n	CLIP-seq
MIRT2614896	hsa-miR-552	CLIP-seq
MIRT2614897	hsa-miR-587	CLIP-seq
MIRT2614898	hsa-miR-596	CLIP-seq
MIRT2614899	hsa-miR-612	CLIP-seq
MIRT2614900	hsa-miR-621	CLIP-seq
MIRT2094904	hsa-miR-622	CLIP-seq
MIRT2614901	hsa-miR-624	CLIP-seq
MIRT1319313	hsa-miR-648	CLIP-seq
MIRT2614902	hsa-miR-661	CLIP-seq
MIRT2614903	hsa-miR-664	CLIP-seq
MIRT2614904	hsa-miR-668	CLIP-seq
MIRT2614905	hsa-miR-759	CLIP-seq
MIRT2614906	hsa-miR-760	CLIP-seq
MIRT2614907	hsa-miR-769-5p	CLIP-seq
MIRT2614908	hsa-miR-936	CLIP-seq
MIRT2614836	hsa-miR-1178	CLIP-seq
MIRT2614837	hsa-miR-1224-3p	CLIP-seq
MIRT2614839	hsa-miR-1260	CLIP-seq
MIRT2614840	hsa-miR-1260b	CLIP-seq
MIRT2614841	hsa-miR-1280	CLIP-seq
MIRT2614842	hsa-miR-1284	CLIP-seq
MIRT2614846	hsa-miR-151-3p	CLIP-seq
MIRT2614847	hsa-miR-199a-3p	CLIP-seq
MIRT2614848	hsa-miR-199b-3p	CLIP-seq
MIRT2614850	hsa-miR-2355-5p	CLIP-seq
MIRT1319297	hsa-miR-23a	CLIP-seq
MIRT1319298	hsa-miR-23b	CLIP-seq
MIRT1319299	hsa-miR-23c	CLIP-seq
MIRT2614853	hsa-miR-3129-5p	CLIP-seq
MIRT2614857	hsa-miR-342-3p	CLIP-seq
MIRT2614858	hsa-miR-3607-5p	CLIP-seq
MIRT2614861	hsa-miR-3679-3p	CLIP-seq
MIRT2614863	hsa-miR-376c	CLIP-seq
MIRT2614868	hsa-miR-4279	CLIP-seq
MIRT2614870	hsa-miR-4293	CLIP-seq
MIRT2614872	hsa-miR-4436b-3p	CLIP-seq
MIRT2614875	hsa-miR-4463	CLIP-seq
MIRT2614877	hsa-miR-4499	CLIP-seq
MIRT1319305	hsa-miR-4686	CLIP-seq
MIRT2614883	hsa-miR-4714-3p	CLIP-seq
MIRT1319306	hsa-miR-4722-3p	CLIP-seq
MIRT2614887	hsa-miR-4761-3p	CLIP-seq
MIRT1319308	hsa-miR-4763-5p	CLIP-seq
MIRT1319309	hsa-miR-4769-3p	CLIP-seq
MIRT2614891	hsa-miR-4789-5p	CLIP-seq
MIRT2614893	hsa-miR-502-5p	CLIP-seq
MIRT2614894	hsa-miR-545	CLIP-seq
MIRT2614896	hsa-miR-552	CLIP-seq
MIRT2614898	hsa-miR-596	CLIP-seq
MIRT2614900	hsa-miR-621	CLIP-seq
MIRT2614903	hsa-miR-664	CLIP-seq
MIRT2614905	hsa-miR-759	CLIP-seq
MIRT2614908	hsa-miR-936	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	28082677
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17577209, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28082677
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	27974379
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0009451	Process	RNA modification	IEA
GO:0009982	Function	Pseudouridine synthase activity	IDA	35051350
GO:0009982	Function	Pseudouridine synthase activity	IEA
GO:0009982	Function	Pseudouridine synthase activity	IMP	28082677
GO:0016853	Function	Isomerase activity	IEA
GO:0031118	Process	RRNA pseudouridine synthesis	IMP	27974379
GO:0035770	Component	Ribonucleoprotein granule	IDA	28082677
GO:0070131	Process	Positive regulation of mitochondrial translation	IMP	27667664
GO:0070902	Process	Mitochondrial tRNA pseudouridine synthesis	IMP	28082677
GO:0106029	Function	TRNA pseudouridine synthase activity	IEA
GO:1990400	Function	Mitochondrial ribosomal large subunit rRNA binding	IDA	28082677
GO:1990481	Process	MRNA pseudouridine synthesis	IDA	35051350

MIM	HGNC	e!Ensembl
617488	25898	ENSG00000165526

Q96CM3

Protein name

Pseudouridylate synthase RPUSD4, mitochondrial (EC 5.4.99.-) (RNA pseudouridylate synthase domain-containing protein 4)

Protein function

Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates (PubMed:27974379, PubMed:28082677). Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA) (PubMed:27974379). This mod

PDB

5UBA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00849	PseudoU_synth_2	105 → 277	RNA pseudouridylate synthase	Family

Sequence

MAAPRWSASGPWIRGNGQGCGSLFTLVSKPFCAAAAASTAINAQRLAEKLRAQKREQDTK
KEPVSTNAVQRRVQEIVRFTRQLQRVHPNVLAKALTRGILHQDKNLVVINKPYGLPVHGG
PGVQLCITDVLPILAKMLHGHKAEPLHLCHRLDKETTGVMVLAWDKDMAHQVQELFRTRQ
VVKKYWAITVHVPMPSAGVVDIPIVEKEAQGQQQHHKMTLSPSYRMDDGKMVKVRRSRNA
QVAVTQYQVLSSTLSSALVELQPITGIKHQLRVHLSFGLDCPILGDHKYSDWNRLAPQKL
SVGTLKKLGLEQSKARYIPLHLHARQLILPALGSGKEELNLVCKLPRFFVHSLHRLRLEM
PNEDQNENNEAKCLGAQ

Sequence length

377

Interactions

View interactions

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 (5)

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.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Osteoarthritis	Associate	37006267	★★★★★ ★☆☆☆☆ Found in Text Mining only

RPUSD4 (RNA pseudouridine synthase D4)