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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	24140
Gene name	FtsJ RNA 2'-O-methyltransferase 1
Gene symbol	FTSJ1
Synonyms (NCBI Gene)	CDLIVJM23MRX44MRX9SPB1TRMT7XLID9
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143734567	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs797044864	T>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1569474795	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602048728	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1602048836	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022963	hsa-miR-124-3p	Microarray	18668037
MIRT023951	hsa-miR-1-3p	Proteomics	18668040
MIRT049665	hsa-miR-92a-3p	CLASH	23622248
MIRT038539	hsa-miR-30c-1-3p	CLASH	23622248
MIRT1005806	hsa-miR-1200	CLIP-seq
MIRT1005807	hsa-miR-1260	CLIP-seq
MIRT1005808	hsa-miR-1260b	CLIP-seq
MIRT1005809	hsa-miR-188-3p	CLIP-seq
MIRT1005810	hsa-miR-3074-5p	CLIP-seq
MIRT1005811	hsa-miR-3149	CLIP-seq
MIRT1005812	hsa-miR-3156-3p	CLIP-seq
MIRT1005813	hsa-miR-3667-5p	CLIP-seq
MIRT1005814	hsa-miR-4301	CLIP-seq
MIRT1005815	hsa-miR-4468	CLIP-seq
MIRT1005816	hsa-miR-4504	CLIP-seq
MIRT1005817	hsa-miR-4517	CLIP-seq
MIRT1005818	hsa-miR-4664-3p	CLIP-seq
MIRT1005819	hsa-miR-4718	CLIP-seq
MIRT1005820	hsa-miR-582-3p	CLIP-seq
MIRT1005821	hsa-miR-671-3p	CLIP-seq
MIRT1005822	hsa-miR-938	CLIP-seq
MIRT1998053	hsa-miR-3653	CLIP-seq
MIRT1998054	hsa-miR-3658	CLIP-seq
MIRT1005817	hsa-miR-4517	CLIP-seq
MIRT2535639	hsa-miR-1266	CLIP-seq
MIRT2535640	hsa-miR-1273f	CLIP-seq
MIRT2535641	hsa-miR-143	CLIP-seq
MIRT2535642	hsa-miR-1470	CLIP-seq
MIRT2535643	hsa-miR-198	CLIP-seq
MIRT2535644	hsa-miR-2355-3p	CLIP-seq
MIRT2535645	hsa-miR-296-3p	CLIP-seq
MIRT2535646	hsa-miR-3065-5p	CLIP-seq
MIRT2535647	hsa-miR-3124-3p	CLIP-seq
MIRT2535648	hsa-miR-3127-5p	CLIP-seq
MIRT2535649	hsa-miR-3145-3p	CLIP-seq
MIRT2535650	hsa-miR-3158-3p	CLIP-seq
MIRT2535651	hsa-miR-3678-3p	CLIP-seq
MIRT2535652	hsa-miR-3682-3p	CLIP-seq
MIRT2535653	hsa-miR-3918	CLIP-seq
MIRT2535654	hsa-miR-4518	CLIP-seq
MIRT2535655	hsa-miR-4645-5p	CLIP-seq
MIRT2535656	hsa-miR-4646-3p	CLIP-seq
MIRT2535657	hsa-miR-4650-5p	CLIP-seq
MIRT2535658	hsa-miR-4667-3p	CLIP-seq
MIRT2535659	hsa-miR-4673	CLIP-seq
MIRT2535660	hsa-miR-4684-3p	CLIP-seq
MIRT2535661	hsa-miR-4708-5p	CLIP-seq
MIRT2535662	hsa-miR-4770	CLIP-seq
MIRT2535663	hsa-miR-499a-5p	CLIP-seq
MIRT2535664	hsa-miR-502-5p	CLIP-seq
MIRT2535665	hsa-miR-511	CLIP-seq
MIRT2535666	hsa-miR-570	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001510	Process	RNA methylation	IEA
GO:0002128	Process	TRNA nucleoside ribose methylation	IEA
GO:0002128	Process	TRNA nucleoside ribose methylation	IMP	26310293
GO:0002130	Process	Wobble position ribose methylation	IDA	32558197
GO:0002181	Process	Cytoplasmic translation	IBA
GO:0002181	Process	Cytoplasmic translation	IEA
GO:0002181	Process	Cytoplasmic translation	IMP	32393790, 36720500
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	32558197
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	32558197
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008175	Function	TRNA methyltransferase activity	IBA
GO:0008175	Function	TRNA methyltransferase activity	IEA
GO:0016423	Function	TRNA (guanine) methyltransferase activity	IDA	32558197
GO:0016740	Function	Transferase activity	IEA
GO:0022008	Process	Neurogenesis	IDA	36720500
GO:0030488	Process	TRNA methylation	IBA
GO:0030488	Process	TRNA methylation	IEA
GO:0030488	Process	TRNA methylation	IGI	25404562
GO:0030488	Process	TRNA methylation	IMP	36720500
GO:0032259	Process	Methylation	IEA
GO:0106050	Function	TRNA 2'-O-methyltransferase activity	EXP	25404562, 26310293
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	EXP	25404562, 26310293
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	IEA
GO:0106340	Function	TRNA (guanosine(34)-2'-O)-methyltransferase activity	IMP	26310293, 36720500
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	32558197

MIM	HGNC	e!Ensembl
300499	13254	ENSG00000068438

Q9UET6

Protein name

tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (EC 2.1.1.205) (2'-O-ribose RNA methyltransferase TRM7 homolog) (Protein ftsJ homolog 1)

Protein function

Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:26310293, PubMed:32198346, PubMed:32558197, PubMed:33771871, PubMed:36720500). Requisite for faithful cytopla

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01728	FtsJ	21 → 199	FtsJ-like methyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Found in fetal brain, lung, liver and kidney (PubMed:15162322). Widely expressed in adult tissue; with high expression in heart and liver, lower expression in skeletal muscle, kidney, and pancreas and also lowly expressed in brain and

Sequence

MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLS
QKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPD
VTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCA
KPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRV
DTFPQPLAAPQCHTLLAPEMEDNEMSCSP

Sequence length

329

Interactions

View interactions

	Reactome
			tRNA modification in the nucleus and cytosol

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs2061565957	RCV001260765
Intellectual disability, X-linked 9	Pathogenic	rs2519393316, rs1602048836, rs2519380502, rs1602048728, rs2061548936	RCV000011641 RCV000011642 RCV000011643 RCV000011644 RCV001251770

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Uncertain significance	rs2519390494	RCV003128020
FTSJ1-related disorder	Uncertain significance; Likely benign; Benign	rs1783285876, rs376210614, rs782444762, rs140074225, rs142932029, rs75296308, rs141084617	RCV003416812 RCV003427955 RCV003894643 RCV003945745 RCV003945768 RCV003958141 RCV003958077
History of neurodevelopmental disorder	Uncertain significance	rs782012239	RCV000718283
Ovarian serous cystadenocarcinoma	Likely benign	rs183649523	RCV005901032
Sotos syndrome	Conflicting classifications of pathogenicity	rs148812911	RCV005626269
Thyroid cancer, nonmedullary, 1	Benign	rs138008946	RCV005889957
Uterine corpus endometrial carcinoma	Likely benign	rs183649523	RCV005901033

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Developmental Disabilities	Associate	29631977
Intellectual Disability	Associate	15342698, 32558197, 36720500
Memory Disorders	Associate	36720500
Mental Retardation X Linked	Associate	15342698
Mental Retardation X Linked Nonsyndromic	Associate	15162322, 26310293
Neoplasms	Associate	36720500

FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1)