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Aliases for MIR4720 Gene

Subcategory (RNA class) for MIR4720 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR4720 Gene

  • MicroRNA 4720 2 3
  • Kelch-Like Protein 16 4
  • Hsa-Mir-4720 3
  • Gigaxonin 5
  • KLHL16 4
  • GAN1 4
  • GAN 5

External Ids for MIR4720 Gene

Previous GeneCards Identifiers for MIR4720 Gene

  • GC16U901346
  • GC16P081416
  • GC16P081419

Summaries for MIR4720 Gene

Entrez Gene Summary for MIR4720 Gene

  • 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]

GeneCards Summary for MIR4720 Gene

MIR4720 (MicroRNA 4720) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR4720 include Giant Axonal Neuropathy-1 and Giant Axonal Neuropathy. An important paralog of this gene is IPP.

UniProtKB/Swiss-Prot for MIR4720 Gene

  • Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR4720 Gene

Genomics for MIR4720 Gene

Regulatory Elements for MIR4720 Gene

Enhancers for MIR4720 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MIR4720 on UCSC Golden Path with GeneCards custom track

Promoters for MIR4720 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for MIR4720 Gene

Chromosome:
16
Start:
81,314,952 bp from pter
End:
81,390,884 bp from pter
Size:
75,933 bases
Orientation:
Plus strand

Genomic View for MIR4720 Gene

Genes around MIR4720 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR4720 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR4720 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR4720 Gene

Proteins for MIR4720 Gene

  • Protein details for MIR4720 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2C0-GAN_HUMAN
    Recommended name:
    Gigaxonin
    Protein Accession:
    Q9H2C0

    Protein attributes for MIR4720 Gene

    Size:
    597 amino acids
    Molecular mass:
    67638 Da
    Quaternary structure:
    • Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).
    • Interacts with TBCB. Interacts with CUL3. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with UBA1. Interacts (via Kelch domains) with MAP1B (via C-terminus) and MAP1S (via C-terminus).

    Three dimensional structures from OCA and Proteopedia for MIR4720 Gene

neXtProt entry for MIR4720 Gene

Post-translational modifications for MIR4720 Gene

  • Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MIR4720 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MIR4720 Gene

Domains & Families for MIR4720 Gene

Gene Families for MIR4720 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2C0

UniProtKB/Swiss-Prot:

GAN_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 6 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with MIR4720: view

No data available for Suggested Antigen Peptide Sequences for MIR4720 Gene

Function for MIR4720 Gene

Molecular function for MIR4720 Gene

UniProtKB/Swiss-Prot Function:
Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.

Gene Ontology (GO) - Molecular Function for MIR4720 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with MIR4720: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR4720 Gene

Localization for MIR4720 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR4720 Gene

Cytoplasm. Cytoplasm, cytoskeleton.

Gene Ontology (GO) - Cellular Components for MIR4720 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA --
genes like me logo Genes that share ontologies with MIR4720: view

No data available for Subcellular locations from COMPARTMENTS for MIR4720 Gene

Pathways & Interactions for MIR4720 Gene

SuperPathways for MIR4720 Gene

No Data Available

UniProtKB/Swiss-Prot Q9H2C0-GAN_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MIR4720 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0016567 protein ubiquitination IDA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with MIR4720: view

No data available for Pathways by source and SIGNOR curated interactions for MIR4720 Gene

Drugs & Compounds for MIR4720 Gene

No Compound Related Data Available

Transcripts for MIR4720 Gene

mRNA/cDNA for MIR4720 Gene

(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MIR4720 Gene

No ASD Table

Relevant External Links for MIR4720 Gene

GeneLoc Exon Structure for
MIR4720
ECgene alternative splicing isoforms for
MIR4720

Expression for MIR4720 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR4720 Gene:

MIR4720

mRNA Expression by UniProt/SwissProt for MIR4720 Gene:

Q9H2C0-GAN_HUMAN
Tissue specificity: Expressed in brain, heart and muscle.

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MIR4720 Gene

Orthologs for MIR4720 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIR4720 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GAN 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAN 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAN 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gan 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAN 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GAN 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAN 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAN 35
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01034126.1 35
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F47D12.7 35
  • 18 (a)
OneToMany
kel-10 35
  • 18 (a)
OneToMany
spe-26 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 14 (a)
OneToOne
Species where no ortholog for MIR4720 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIR4720 Gene

ENSEMBL:
Gene Tree for MIR4720 (if available)
TreeFam:
Gene Tree for MIR4720 (if available)

Paralogs for MIR4720 Gene

Paralogs for MIR4720 Gene

genes like me logo Genes that share paralogs with MIR4720: view

Variants for MIR4720 Gene

Sequence variations from dbSNP and Humsavar for MIR4720 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs9673686 -- 81,384,370(+) GAGTT(A/G)CTGCA upstream-variant-2KB
rs182558 -- 81,383,094(+) CGCTC(A/C)GTAGA upstream-variant-2KB
rs310017 -- 81,385,298(+) GCTTA(C/T)TCCTT downstream-variant-500B
rs10163272 -- 81,383,696(+) TGAAA(A/G)AAAAC upstream-variant-2KB
rs34581759 -- 81,385,469(+) TTAAG(-/G)CTCCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MIR4720 Gene

Variant ID Type Subtype PubMed ID
esv3639330 CNV loss 21293372
esv3639331 CNV loss 21293372

Relevant External Links for MIR4720 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR4720

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR4720 Gene

Disorders for MIR4720 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MIR4720 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
giant axonal neuropathy-1
  • giant axonal neuropathy 1, autosomal recessive
giant axonal neuropathy
  • gan1
axonal neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GAN_HUMAN
  • Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder. {ECO:0000269 PubMed:11062483, ECO:0000269 PubMed:11971098, ECO:0000269 PubMed:12655563, ECO:0000269 PubMed:17578852, ECO:0000269 PubMed:17587580}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR4720

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR4720
genes like me logo Genes that share disorders with MIR4720: view

No data available for Genatlas for MIR4720 Gene

Publications for MIR4720 Gene

  1. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. (PMID: 24627108) Schabhuettl M. … Auer-Grumbach M. (J. Neurol. 2014) 4 65
  2. Identification of new microRNAs in paired normal and tumor breast tissue suggests a dual role for the ERBB2/Her2 gene. (PMID: 21199797) Persson H. … Rovira C. (Cancer Res. 2011) 3 65
  3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. (PMID: 19424503) Wang X.J. … Zhang D.D. (PLoS ONE 2009) 4 65
  4. Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases. (PMID: 19818708) Zhuang M. … Schulman B.A. (Mol. Cell 2009) 4 65
  5. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (PMID: 17578852) Houlden H. … Reilly M.M. (J. Neurol. Neurosurg. Psych. 2007) 4 65

Products for MIR4720 Gene

Sources for MIR4720 Gene

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