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DIMT1 (DIM1 rRNA methyltransferase and ribosome maturation factor)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27292
Gene nameGene Name - the full gene name approved by the HGNC.
DIM1 rRNA methyltransferase and ribosome maturation factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DIMT1
SynonymsGene synonyms aliases
DIM1, DIMT1L, HSA9761, HUSSY5
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000179 Function RRNA (adenine-N6,N6-)-dimethyltransferase activity EXP 25851604
GO:0000179 Function RRNA (adenine-N6,N6-)-dimethyltransferase activity IBA 21873635
GO:0000179 Function RRNA (adenine-N6,N6-)-dimethyltransferase activity IMP 25851604
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005654 Component Nucleoplasm IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 313
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    rRNA modification in the nucleus and cytosol
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034, rs587777035, rs398122369, rs886037663, rs587777355, rs587777356, rs587777357, rs587777570, rs587784498, rs587784502, rs587784505, rs797046074, rs864321717, rs878853162, rs878853279, rs878853284, rs886039447, rs747480526, rs886041459, rs1057518249, rs1057517908, rs1057521924, rs1064795249, rs1064795334, rs1131691895, rs1135401758, rs1554042050, rs1554126886, rs1554126925, rs1554122959, rs1553463778, rs1561273261, rs760139097, rs1413537928, rs778294237, rs1581525728, rs1472207337, rs1599166793, rs1599137041, rs1599155642, rs1580059038, rs1581496351, rs1581526962, rs1581525683, rs1581668624, rs201922441
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Pachygyria Pachygyria
Spasmus nutans Nodding spasm

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