DIMT1 (DIM1 rRNA methyltransferase and ribosome maturation factor)

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

Gene

• Entrez ID: 27292
• Gene name: DIM1 rRNA methyltransferase and ribosome maturation factor
• Gene symbol: DIMT1
• Synonyms (NCBI Gene): DIM1, DIMT1L, HSA9761, HUSSY5
• Chromosome: 5
• Chromosome location: 5q12.1
• Summary: The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved

miRNA Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024613	hsa-miR-215-5p	Microarray	19074876
MIRT026302	hsa-miR-192-5p	Microarray	19074876
MIRT027267	hsa-miR-101-3p	Sequencing	20371350
MIRT042032	hsa-miR-484	CLASH	23622248
MIRT054142	hsa-miR-210-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR	25187177
MIRT054142	hsa-miR-210-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR	25187177
MIRT054142	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT054142	hsa-miR-210-3p	HITS-CLIP	22473208

Gene ontology (GO) Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000154	Process	RRNA modification	IEA
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP	25851604
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	25851604
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	IBA
GO:0031167	Process	RRNA methylation	IMP	25851604
GO:0031167	Process	RRNA methylation	TAS
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0032259	Process	Methylation	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0052909	Function	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity	IEA
GO:0052909	Function	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity	IMP	25851604
GO:2000234	Process	Positive regulation of rRNA processing	IMP	25851604

Other IDs

• MIM: 612499
• HGNC: 30217
• e!Ensembl: ENSG00000086189

Protein

• UniProt ID: Q9UNQ2
• Protein name: Dimethyladenosine transferase (EC 2.1.1.183) (18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase) (18S rRNA dimethylase) (DIM1 dimethyladenosine transferase 1 homolog) (DIM1 dimethyladenosine transferase 1-like) (S-adenosylmethionine-6-N
• Protein function: Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independen
• PDB: 1ZQ9 , 6W6C , 6W6F , 7MQA , 7WTS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00398	RrnaAD	27 → 274	Ribosomal RNA adenine dimethylase	Domain

• Sequence:

  MPKVKSGAIGRRRGRQEQRRELKSAGGLMFNTGIGQHILKNPLIINSIIDKAALRPTDVV
  LEVGPGTGNMTVKLLEKAKKVVACELDPRLVAELHKRVQGTPVASKLQVLVGDVLKTDLP
  FFDTCVANLPYQISSPFVFKLLLHRPFFRCAILMFQREFALRLVAKPGDKLYCRLSINTQ
  LLARVDHLMKVGKNNFRPPPKVESSVVRIEPKNPPPPINFQEWDGLVRITFVRKNKTLSA
  AFKSSAVQQLLEKNYRIHCSVHNIIIPEDFSIADKIQQILTSTGFSDKRARSMDIDDFIR
  LLHGFNAEGIHFS

• Sequence length: 313

Pathways

Reactome Pathway:

rRNA modification in the nucleus and cytosol

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3	Cortical Dysplasia With Other Brain Malformations	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34473991, 37024283	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28164410		★☆☆☆☆ Found in Text Mining only
Nodding spasm	Spasmus nutans	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28601661		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for DIMT1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to DIMT1.