Human Gene BCDIN3D (uc001rvh.3) Description and Page Index
Description: Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. RefSeq Summary (NM_181708): This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5'-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine binding domain and uses the methyl group donor, S-adenosylmethionine. This gene is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. The encoded protein is thought to promote the cellular invasion of breast cancer cells, by downregulating the expression of tumor suppressor miRNAs through the dimethylation of the 5-monophosphate of the corresponding precursor miRNAs. [provided by RefSeq, Apr 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.55522.1, SRR1803615.264520.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000333924.6/ ENSP00000335201.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr12:50,229,826-50,236,912 Size: 7,087 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr12:50,232,154-50,236,870 Size: 4,717 Coding Exon Count: 2
ID:BN3D2_HUMAN DESCRIPTION: RecName: Full=Pre-miRNA 5'-monophosphate methyltransferase; EC=2.1.1.-; AltName: Full=BCDIN3 domain-containing protein; FUNCTION: O-methyltransferase that specifically dimethylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing. The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre- miRNAs. SUBUNIT: Interacts with DICER1; the interaction may be mediated by RNA. SUBCELLULAR LOCATION: Cytoplasm. SIMILARITY: Belongs to the methyltransferase superfamily. SIMILARITY: Contains 1 Bin3-type SAM domain.
Genetic Association Studies of Complex Diseases and Disorders
Body mass index Thorleifsson ,et al. 2008, Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity, Nature genetics 2009 41- 1 : 18-24.
Body Mass Index Gudmar Thorleifsson et al. Nature genetics 2009, Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity., Nature genetics.
Body Mass Index Elizabeth K Speliotes et al. Nature genetics 2010, Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z5W3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.