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DGCR8 DGCR8, microprocessor complex subunit [ Homo sapiens (human) ]

Gene ID: 54487, updated on 6-Jan-2019

Summary

Official Symbol
DGCR8provided by HGNC
Official Full Name
DGCR8, microprocessor complex subunitprovided by HGNC
Primary source
HGNC:HGNC:2847
See related
Ensembl:ENSG00000128191 MIM:609030
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
Gy1; pasha; DGCRK6; C22orf12
Summary
This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in testis (RPKM 13.8), placenta (RPKM 10.2) and 25 other tissues See more
Orthologs

Genomic context

See DGCR8 in Genome Data Viewer
Location:
22q11.21
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (20080232..20111877)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20067755..20099400)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene catechol-O-methyltransferase Neighboring gene ARVCF, delta catenin family member Neighboring gene transport and golgi organization 2 homolog Neighboring gene microRNA 185 Neighboring gene microRNA 3618 Neighboring gene microRNA 1306 Neighboring gene tRNA methyltransferase 2 homolog A Neighboring gene microRNA 6816 Neighboring gene RAN binding protein 1 Neighboring gene small nucleolar RNA, H/ACA box 77B

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • DDX1 as a regulatory component of the Drosha microprocessor, organism-specific biosystem (from WikiPathways)
    DDX1 as a regulatory component of the Drosha microprocessor, organism-specific biosystemPosttranscriptional maturation is a critical step in microRNA (miRNA) biogenesis that determines mature miRNA levels. In addition to core components (Drosha and DGCR8 [DiGeorge syndrome critical regi...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Gene Silencing by RNA, organism-specific biosystem (from REACTOME)
    Gene Silencing by RNA, organism-specific biosystemIn this module, the biology of various types of regulatory non-coding RNAs are described. Currently, biogenesis and functions of small interfering RNAs (siRNAs) and microRNAs are annotated.
  • MicroRNA (miRNA) biogenesis, organism-specific biosystem (from REACTOME)
    MicroRNA (miRNA) biogenesis, organism-specific biosystemBiogenesis of microRNAs (miRNAs) can be summarized in five steps (reviewed in Ketting 2011, Nowotny and Yang 2009, Kim et al. 2009, Chua et al. 2009, Hannon and He 2004):1. Transcription. miRNA trans...
  • RNA interference, organism-specific biosystem (from WikiPathways)
    RNA interference, organism-specific biosystemThe process of RNA-interference in eukaryotic cells. Long precursor microRNA (miRNA), called pri-miRNA, is cleaved by RNase III endonuclease (Drosha) into pieces of approximately 70 nucleotides each ...
  • miRNA Biogenesis, organism-specific biosystem (from WikiPathways)
    miRNA Biogenesis, organism-specific biosystemmicroRNA biogenesis + an example of a miRBase entry. As an example immature hsa-mir-146a is shown

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
double-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
primary miRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
primary miRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ribonuclease III activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ribonuclease III activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
primary miRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
primary miRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
microprocessor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microprocessor complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
microprocessor complex subunit DGCR8
Names
DiGeorge syndrome critical region 8
DiGeorge syndrome critical region gene 8

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_022931.2 RefSeqGene

    Range
    5001..36646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190326.1NP_001177255.1  microprocessor complex subunit DGCR8 isoform 2

    See identical proteins and their annotated locations for NP_001177255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC078147, BQ001948, DA433651
    Consensus CDS
    CCDS54501.1
    UniProtKB/Swiss-Prot
    Q8WYQ5
    Related
    ENSP00000372488.2, ENST00000383024.6
    Conserved Domains (2) summary
    smart00456
    Location:302332
    WW; Domain with 2 conserved Trp (W) residues
    pfam00035
    Location:587651
    dsrm; Double-stranded RNA binding motif
  2. NM_022720.7NP_073557.3  microprocessor complex subunit DGCR8 isoform 1

    See identical proteins and their annotated locations for NP_073557.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006547, BC037564, BQ001948, DA433651
    Consensus CDS
    CCDS13773.1
    UniProtKB/Swiss-Prot
    Q8WYQ5
    Related
    ENSP00000263209.3, ENST00000351989.7
    Conserved Domains (2) summary
    smart00456
    Location:302332
    WW; Domain with 2 conserved Trp (W) residues
    pfam00035
    Location:513576
    dsrm; Double-stranded RNA binding motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    20080232..20111877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724268.3XP_006724331.1  microprocessor complex subunit DGCR8 isoform X1

    Conserved Domains (1) summary
    pfam00035
    Location:156219
    dsrm; Double-stranded RNA binding motif
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