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

    Gene ID: 144233, updated on 8-Oct-2017
    Official Symbol
    BCDIN3Dprovided by HGNC
    Official Full Name
    BCDIN3 domain containing RNA methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:27050
    See related
    Ensembl:ENSG00000186666 Vega:OTTHUMG00000169807
    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]
    Orthologs
    Location:
    12q13.12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (49836043..49843129, 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 transfer RNA-Gln (TTG) 6-1 Neighboring gene BCDIN3D antisense RNA 1 Neighboring gene ribosomal protein L35a pseudogene 28 Neighboring gene Fas apoptotic inhibitory molecule 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    miRNA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of pre-miRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    pre-miRNA 5'-monophosphate methyltransferase
    Names
    BCDIN3 domain containing RNA methyltransfease
    BCDIN3 domain-containing protein
    probable methyltransferase BCDIN3D
    NP_859059.1

    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
      5001..12087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_181708.2NP_859059.1  pre-miRNA 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, OTTHUMP00000242155, ENST00000333924.5, OTTHUMT00000405982
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      49836043..49843129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      50196151..50203237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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