Format

Send to:

Choose Destination

BCDIN3D BCDIN3 domain containing RNA methyltransferase [ Homo sapiens (human) ]

Gene ID: 144233, updated on 24-Dec-2019

Summary

Official Symbol
BCDIN3Dprovided by HGNC
Official Full Name
BCDIN3 domain containing RNA methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:27050
See related
Ensembl:ENSG00000186666
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
Summary
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]
Expression
Ubiquitous expression in prostate (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues See more
Orthologs

Genomic context

See BCDIN3D in Genome Data Viewer
Location:
12q13.12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49836043..49843106, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50229826..50236912, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 Neighboring gene NCK associated protein 5 like Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (TTG) 6-1 Neighboring gene BCDIN3D antisense RNA 1 Neighboring gene ribosomal protein L35a pseudogene 28 Neighboring gene Fas apoptotic inhibitory molecule 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
NHGRI GWA Catalog
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-methyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
O-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
O-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
miRNA 2'-O-methylation IDA
Inferred from Direct Assay
more info
PubMed 
miRNA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
miRNA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
miRNA metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of pre-miRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of pre-miRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
RNA 5'-monophosphate methyltransferase
Names
BCDIN3 domain containing RNA methyltransfease
BCDIN3 domain-containing protein
pre-miRNA 5'-monophosphate methyltransferase
probable methyltransferase BCDIN3D
NP_859059.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_053175.1 RefSeqGene

    Range
    5024..12087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181708.3NP_859059.1  RNA 5'-monophosphate methyltransferase

    See identical proteins and their annotated locations for NP_859059.1

    Status: REVIEWED

    Source sequence(s)
    AC131157, BC053560, BU622810, CD690663
    Consensus CDS
    CCDS8790.1
    UniProtKB/Swiss-Prot
    Q7Z5W3
    Related
    ENSP00000335201.4, ENST00000333924.6
    Conserved Domains (2) summary
    pfam06859
    Location:158263
    Bin3; Bicoid-interacting protein 3 (Bin3)
    pfam13649
    Location:71186
    Methyltransf_25; Methyltransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49836043..49843106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center