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 name Gene Name - the full gene name approved by the HGNC.
DIM1 rRNA methyltransferase and ribosome maturation factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIMT1
Synonyms (NCBI Gene) Gene synonyms aliases
DIM1, DIMT1L, HSA9761, HUSSY5
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q12.1
Summary Summary 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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
Show/Hide all(14)
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 IDs Other 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
612499 30217 ENSG00000086189
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    rRNA modification in the nucleus and cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name 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
View all (45 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Leukemia Myeloid Acute Associate 34473991, 37024283
Neoplasms Associate 34473991