DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: DIMT1provided by HGNC
Official Full Name: DIM1 rRNA methyltransferase and ribosome maturation factorprovided by HGNC
Primary source: HGNC:HGNC:30217
See related: Ensembl:ENSG00000086189 MIM:612499; AllianceGenome:HGNC:30217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DIM1; DIMT1L; HUSSY5; HSA9761
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 in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in urinary bladder (RPKM 12.5), lymph node (RPKM 11.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q12.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (62387254..62403905, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (63206803..63223500, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (61683081..61699732, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Noncatalytic regulation of 18S rRNA methyltransferase DIMT1 in acute myeloid leukemia.
Title: Noncatalytic regulation of 18S rRNA methyltransferase DIMT1 in acute myeloid leukemia.
Ribosomal biogenesis regulator DIMT1 controls beta-cell protein synthesis, mitochondrial function, and insulin secretion.
Title: Ribosomal biogenesis regulator DIMT1 controls β-cell protein synthesis, mitochondrial function, and insulin secretion.
Human DIMT1 generates N2(6,6)A-dimethylation-containing small RNAs.
Title: Human DIMT1 generates N(2)(6,6)A-dimethylation-containing small RNAs.
Structural and catalytic roles of the human 18S rRNA methyltransferases DIMT1 in ribosome assembly and translation.
Title: Structural and catalytic roles of the human 18S rRNA methyltransferases DIMT1 in ribosome assembly and translation.
DIMT1 is overexpressed in gastric carcinoma and is significantly correlated with poor prognosis.
Title: DIMT1 overexpression correlates with progression and prognosis in gastric carcinoma.
Studies show that miroRNA miR-210 acts as a tumor suppressor in hypoxic conditions by downregulating the 18S rRNA base methyltransferase (DIMT1)-interferon regulatory factor 4 (IRF4) axis.
Title: Hypoxia-inducible microRNA-210 regulates the DIMT1-IRF4 oncogenic axis in multiple myeloma.
DIMT1L and WBSCR22-TRMT112 are required for distinct pre-rRNA processing reactions leading to synthesis of 18S rRNA. Ribosome biogenesis requires the presence of the modification enzyme rather than its RNA-modifying catalytic activity.
Title: The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.
Epigenetic silencing of miR-210 increases the proliferation of gastric epithelium during chronic Helicobacter pylori infection by activating STMN1 and DIMT1.
Title: Epigenetic silencing of miR-210 increases the proliferation of gastric epithelium during chronic Helicobacter pylori infection.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of DIM1 dimethyladenosine transferase 1 homolog (DIMT1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93835 (e-PCR)
- UniSTS:88841

AB060843 (e-PCR)
- UniSTS:479889

SGC32025 (e-PCR)
- UniSTS:61845

RH122117 (e-PCR)
- UniSTS:134869

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA methylation	TAS Traceable Author Statement more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dimethyladenosine transferase

Names: 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase; 18S rRNA dimethylase; DIM1 dimethyladenosine transferase 1 homolog; DIM1 dimethyladenosine transferase 1-like; DIMT1 rRNA methyltransferase and ribosome maturation factor; S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase; probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase; probable 18S rRNA dimethylase; probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase; probable dimethyladenosine transferase

NP_001335005.1

EC 2.1.1.183

NP_001335006.1

EC 2.1.1.183

NP_055288.1

EC 2.1.1.183

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348076.2 → NP_001335005.1 dimethyladenosine transferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC016637, BC002841, DC398380

Consensus CDS

CCDS87298.1

UniProtKB/TrEMBL

A0A0C4DGB1, B4DRY2

Related

ENSP00000421754.1, ENST00000506390.5

Conserved Domains (1) summary

cl17173
Location:24 → 263

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001348077.2 → NP_001335006.1 dimethyladenosine transferase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC016637

Conserved Domains (1) summary

cl17173
Location:1 → 159

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_014473.4 → NP_055288.1 dimethyladenosine transferase isoform 1

See identical proteins and their annotated locations for NP_055288.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC016637, AK292723, BQ009563

Consensus CDS

CCDS3981.1

UniProtKB/Swiss-Prot

O76025, Q9BU77, Q9UES1, Q9UNQ2

UniProtKB/TrEMBL

A8K9K8

Related

ENSP00000199320.4, ENST00000199320.9

Conserved Domains (1) summary

PTZ00338
Location:24 → 312

PTZ00338; dimethyladenosine transferase-like protein; Provisional