PUS7 (pseudouridine synthase 7)

Gene

• Entrez ID: 54517
• Gene name: Pseudouridine synthase 7
• Gene symbol: PUS7
• Synonyms (NCBI Gene): IDDABS
• Chromosome: 7
• Chromosome location: 7q22.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752839979	GT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs765326959	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs772282094	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1444559235	C>A,T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1562818383	CAGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1586169255	C>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020676	hsa-miR-155-5p	Proteomics	18668040
MIRT025413	hsa-miR-34a-5p	Proteomics	21566225
MIRT028331	hsa-miR-32-5p	Sequencing	20371350
MIRT029255	hsa-miR-26b-5p	Microarray	19088304
MIRT041035	hsa-miR-505-3p	CLASH	23622248
MIRT1277989	hsa-miR-1228	CLIP-seq
MIRT1277990	hsa-miR-155	CLIP-seq
MIRT1277991	hsa-miR-3140-5p	CLIP-seq
MIRT1277992	hsa-miR-3177-5p	CLIP-seq
MIRT1277993	hsa-miR-3186-5p	CLIP-seq
MIRT1277994	hsa-miR-323-5p	CLIP-seq
MIRT1277995	hsa-miR-325	CLIP-seq
MIRT1277996	hsa-miR-377	CLIP-seq
MIRT1277997	hsa-miR-3919	CLIP-seq
MIRT1277998	hsa-miR-4327	CLIP-seq
MIRT1277999	hsa-miR-4466	CLIP-seq
MIRT1278000	hsa-miR-4775	CLIP-seq
MIRT1278001	hsa-miR-4783-5p	CLIP-seq
MIRT1278002	hsa-miR-491-3p	CLIP-seq
MIRT1278003	hsa-miR-520d-5p	CLIP-seq
MIRT1278004	hsa-miR-524-5p	CLIP-seq
MIRT1278005	hsa-miR-556-3p	CLIP-seq
MIRT1278006	hsa-miR-581	CLIP-seq
MIRT1278007	hsa-miR-590-3p	CLIP-seq
MIRT1278008	hsa-miR-628-3p	CLIP-seq
MIRT1278009	hsa-miR-675	CLIP-seq
MIRT1278010	hsa-miR-876-3p	CLIP-seq
MIRT2081809	hsa-miR-1183	CLIP-seq
MIRT1277992	hsa-miR-3177-5p	CLIP-seq
MIRT2081810	hsa-miR-3929	CLIP-seq
MIRT2081811	hsa-miR-4419b	CLIP-seq
MIRT2081812	hsa-miR-4478	CLIP-seq
MIRT2081813	hsa-miR-4742-3p	CLIP-seq
MIRT2081814	hsa-miR-485-5p	CLIP-seq
MIRT2081815	hsa-miR-944	CLIP-seq
MIRT2081809	hsa-miR-1183	CLIP-seq
MIRT2307585	hsa-miR-1278	CLIP-seq
MIRT2307586	hsa-miR-1293	CLIP-seq
MIRT2307587	hsa-miR-1911	CLIP-seq
MIRT2307588	hsa-miR-371-5p	CLIP-seq
MIRT2307589	hsa-miR-371b-5p	CLIP-seq
MIRT2307590	hsa-miR-3910	CLIP-seq
MIRT2081810	hsa-miR-3929	CLIP-seq
MIRT2307591	hsa-miR-4265	CLIP-seq
MIRT2307592	hsa-miR-4296	CLIP-seq
MIRT2307593	hsa-miR-4310	CLIP-seq
MIRT2307594	hsa-miR-4322	CLIP-seq
MIRT2081811	hsa-miR-4419b	CLIP-seq
MIRT2081812	hsa-miR-4478	CLIP-seq
MIRT2307595	hsa-miR-4483	CLIP-seq
MIRT2307596	hsa-miR-4660	CLIP-seq
MIRT2081813	hsa-miR-4742-3p	CLIP-seq
MIRT2307597	hsa-miR-4795-3p	CLIP-seq
MIRT2081814	hsa-miR-485-5p	CLIP-seq
MIRT2307598	hsa-miR-885-3p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2457487	hsa-miR-1283	CLIP-seq
MIRT2457488	hsa-miR-3613-3p	CLIP-seq
MIRT2605050	hsa-miR-4421	CLIP-seq
MIRT2457489	hsa-miR-4684-5p	CLIP-seq
MIRT2605051	hsa-miR-548c-3p	CLIP-seq
MIRT2605050	hsa-miR-4421	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001522	Process	Pseudouridine synthesis	IBA
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	35144859
GO:0005634	Component	Nucleus	IDA	29628141
GO:0005634	Component	Nucleus	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	IBA
GO:0009982	Function	Pseudouridine synthase activity	IDA	29628141, 31477916, 35051350
GO:0009982	Function	Pseudouridine synthase activity	IEA
GO:0009982	Function	Pseudouridine synthase activity	IMP	28073919
GO:0016853	Function	Isomerase activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	29628141
GO:0017148	Process	Negative regulation of translation	IMP	35144859
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0031119	Process	TRNA pseudouridine synthesis	IDA	29628141, 34718722
GO:0106029	Function	TRNA pseudouridine synthase activity	IEA
GO:0160150	Function	TRNA pseudouridine(13) synthase activity	IDA	34718722
GO:0160150	Function	TRNA pseudouridine(13) synthase activity	IEA
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	IMP	29628141
GO:1990481	Process	MRNA pseudouridine synthesis	IDA	31477916, 35051350
GO:1990481	Process	MRNA pseudouridine synthesis	IMP	28073919
GO:2000380	Process	Regulation of mesoderm development	IMP	29628141

Other IDs

• MIM: 616261
• HGNC: 26033
• e!Ensembl: ENSG00000091127

Protein

• UniProt ID: Q96PZ0
• Protein name: Pseudouridylate synthase 7 homolog (EC 5.4.99.-)
• Protein function: Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:34718722, PubMed:35051350). Acts as a regulator of protein synthesis in embryonic stem cells by mediati
• PDB: 5KKP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01142	TruD	240 → 642	tRNA pseudouridine synthase D (TruD)	Family

• Sequence:

  MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPR
  PPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFV
  SSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLE
  ELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDREGKKYIVAYHAAGKK
  ALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITV
  QEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQ
  QAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVK
  CREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQ
  SYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIHDVVMPLPGFDVIYPK
  HKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFN
  TDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWL
  R

• Sequence length: 661

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	Likely pathogenic; Pathogenic	rs769379928, rs2133254783, rs2133076941, rs2484882987, rs761121419, rs2484846964, rs1456834829, rs2484922041, rs752839979, rs772282094, rs1444559235, rs1562818383, rs765326959	RCV001375942 RCV001375943 RCV001542759 RCV002464982 RCV005254723 RCV003130938 RCV003142404 RCV003227535 RCV000758215 RCV000758216 RCV000758218 RCV000758219 RCV000995625
Pervasive developmental disorder	Pathogenic	rs2484882987	RCV002464982
See cases	Pathogenic	rs2133020609	RCV001420277

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Uncertain significance	rs752375801	RCV005930250
PUS7-related disorder	Likely benign; Benign	rs544766570, rs139058270, rs61741425, rs57080279, rs112413140, rs144603382, rs78178635, rs148835593, rs145057276, rs113639774, rs137934853	RCV003906611 RCV003919056 RCV003907315 RCV003929710 RCV003903814 RCV003916858 RCV003944604 RCV003927121 RCV003927187 RCV003934617 RCV003976675 RCV003916227 RCV003930710
Uterine corpus endometrial carcinoma	Benign	rs78178635	RCV005933358

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	35144859
Carcinoma Non Small Cell Lung	Associate	37420297
Genetic Diseases Inborn	Associate	30778726
Growth Disorders	Associate	30778726
Hearing Loss	Associate	30778726
Hyperuricemia	Associate	35144859
Intellectual Disability	Associate	30778726
Microcephaly	Associate	30778726
Neoplasms	Associate	30008265, 37420297