Homo sapiens Gene: MIR4720
Summary
InnateDB Gene IDBG-719850.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MIR4720
Gene Name microRNA 4720
Synonyms GAN1; KLHL16
Species Homo sapiens
Ensembl Gene ENSG00000261609
Encoded Proteins
gigaxonin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:81314952-81390884
Strand Forward strand
Band q23.2
Transcripts
ENST00000563750
ENST00000568107 ENSP00000476795
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
GO:0016567 protein ubiquitination
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0031463 Cul3-RING ubiquitin ligase complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Antigen processing: Ubiquitination & Proteasome degradation pathway
Adaptive Immune System pathway
Immune System pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q9H2C0
TrEMBL
UniProt Splice Variant
Entrez Gene 8139
UniGene Hs.374278 Hs.562643 Hs.716652 Hs.732875
RefSeq NM_022041
HUGO HGNC:4137
OMIM 605379
CCDS CCDS10935
HPRD
IMGT
EMBL AF291673 BC044840
GenPept AAG35311 AAH44840
RNA Seq Atlas 8139