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Aliases for MIR4750 Gene

Subcategory (RNA class) for MIR4750 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR4750 Gene

  • MicroRNA 4750 2 3
  • TBC1D17 4 5
  • TBC1 Domain Family Member 17 5
  • Hsa-Mir-4750 3
  • Mir-4750 3

External Ids for MIR4750 Gene

Previous GeneCards Identifiers for MIR4750 Gene

  • GC19U901543
  • GC19P050393

Summaries for MIR4750 Gene

Entrez Gene Summary for MIR4750 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 MIR4750 Gene

MIR4750 (MicroRNA 4750) is an RNA Gene, and is affiliated with the miRNA class. Among its related pathways are Vesicle-mediated transport. An important paralog of this gene is TBC1D15.

UniProtKB/Swiss-Prot for MIR4750 Gene

  • Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR4750 Gene

Genomics for MIR4750 Gene

Regulatory Elements for MIR4750 Gene

Enhancers for MIR4750 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
GH19F049910 1.7 FANTOM5 Ensembl ENCODE 12.3 +34.6 34564 3.9 HDGF PKNOX1 ATF1 WRNIP1 ARID4B GLI4 ZNF2 ZNF48 ZNF121 GLIS2 AKT1S1 MIR4750 TBC1D17 PTOV1 ENSG00000221125 NUP62 NR1H2 IL4I1 ATF5 FCGRT
GH19F049905 0.6 ENCODE 12.3 +29.2 29150 1.2 HIC1 PKNOX1 POLR2A IKZF1 ZNF580 ZMYM3 CHD4 SUPT5H AKT1S1 MIR4750 TBC1D17 PTOV1 ENSG00000221125 ATF5 IL4I1 PIR32099
GH19F049908 0.6 ENCODE 12.3 +30.8 30794 0.2 PKNOX1 TBL1XR1 POLR2A SMARCA4 ZBTB33 EBF1 BCL11B AKT1S1 MIR4750 TBC1D17 PTOV1 ENSG00000221125 PIR32099 ATF5 MIR4751
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIR4750 on UCSC Golden Path with GeneCards custom track

Promoters for MIR4750 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000348284 -225 2801 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for MIR4750 Gene

Chromosome:
19
Start:
49,877,425 bp from pter
End:
49,888,749 bp from pter
Size:
11,325 bases
Orientation:
Plus strand

Genomic View for MIR4750 Gene

Genes around MIR4750 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR4750 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR4750 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR4750 Gene

Proteins for MIR4750 Gene

  • Protein details for MIR4750 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA65-TBC17_HUMAN
    Recommended name:
    TBC1 domain family member 17
    Protein Accession:
    Q9HA65
    Secondary Accessions:
    • B4DT12
    • B9A6L8
    • F5H1W7

    Protein attributes for MIR4750 Gene

    Size:
    648 amino acids
    Molecular mass:
    72728 Da
    Quaternary structure:
    • Interacts with OPTN.
    • Interacts with OPTN.

    Alternative splice isoforms for MIR4750 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR4750 Gene

Post-translational modifications for MIR4750 Gene

  • Ubiquitination at Lys 23
  • Modification sites at PhosphoSitePlus

Other Protein References for MIR4750 Gene

No data available for DME Specific Peptides for MIR4750 Gene

Domains & Families for MIR4750 Gene

Gene Families for MIR4750 Gene

Protein Domains for MIR4750 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HA65

UniProtKB/Swiss-Prot:

TBC17_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with MIR4750: view

No data available for Suggested Antigen Peptide Sequences for MIR4750 Gene

Function for MIR4750 Gene

Molecular function for MIR4750 Gene

UniProtKB/Swiss-Prot Function:
Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known.

Gene Ontology (GO) - Molecular Function for MIR4750 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with MIR4750: 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 MIR4750 Gene

Localization for MIR4750 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR4750 Gene

Cytoplasmic vesicle, autophagosome.

Gene Ontology (GO) - Cellular Components for MIR4750 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IEA --
GO:0005829 cytosol IDA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with MIR4750: view

No data available for Subcellular locations from COMPARTMENTS for MIR4750 Gene

Pathways & Interactions for MIR4750 Gene

genes like me logo Genes that share pathways with MIR4750: view

Pathways by source for MIR4750 Gene

2 Reactome pathways for MIR4750 Gene

Gene Ontology (GO) - Biological Process for MIR4750 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with MIR4750: view

No data available for SIGNOR curated interactions for MIR4750 Gene

Transcripts for MIR4750 Gene

mRNA/cDNA for MIR4750 Gene

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

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR4750 Gene

No ASD Table

Relevant External Links for MIR4750 Gene

GeneLoc Exon Structure for
MIR4750
ECgene alternative splicing isoforms for
MIR4750

Expression for MIR4750 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIR4750 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR4750 Gene:

MIR4750
genes like me logo Genes that share expression patterns with MIR4750: view

No data available for 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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MIR4750 Gene

Orthologs for MIR4750 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MIR4750 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D17 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D17 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D17 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d17 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D17 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D17 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D17 35
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tbc1d17 35
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11490 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-15 35
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4773 35
  • 40 (a)
OneToMany
Species where no ortholog for MIR4750 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • 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 MIR4750 Gene

ENSEMBL:
Gene Tree for MIR4750 (if available)
TreeFam:
Gene Tree for MIR4750 (if available)

Paralogs for MIR4750 Gene

Paralogs for MIR4750 Gene

genes like me logo Genes that share paralogs with MIR4750: view

Variants for MIR4750 Gene

Sequence variations from dbSNP and Humsavar for MIR4750 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111725968 -- 49,886,254(+) GTCTC(-/A)AAAAA intron-variant, upstream-variant-2KB
rs111933184 -- 49,886,830(+) TCGCT(C/G)TGTTA intron-variant, upstream-variant-2KB
rs112130704 -- 49,888,097(+) TGTCT(C/T)GCCCA intron-variant, upstream-variant-2KB
rs112666878 -- 49,888,288(+) CCGAG(A/G)CCCTG nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, reference, missense
rs113735297 -- 49,886,944(+) GGGTG(C/T)GGCAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIR4750 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495
nsv953600 CNV deletion 24416366
nsv524068 CNV loss 19592680
nsv2519 CNV deletion 18451855
nsv1140251 OTHER inversion 24896259
esv3644630 CNV gain 21293372
esv3644628 CNV gain 21293372
dgv54n68 CNV loss 17160897
dgv53n68 CNV loss 17160897

Relevant External Links for MIR4750 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR4750

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR4750 Gene

Disorders for MIR4750 Gene

Relevant External Links for MIR4750

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR4750

No disorders were found for MIR4750 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MIR4750 Gene

Publications for MIR4750 Gene

  1. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  2. E50K-OPTN-induced retinal cell death involves the Rab GTPase- activating protein, TBC1D17 mediated block in autophagy. (PMID: 24752605) Chalasani M.L. … Swarup G. (PLoS ONE 2014) 4 64
  3. Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. (PMID: 22854040) Vaibhava V. … Swarup G. (J. Cell. Sci. 2012) 4 64
  4. miRBase: integrating microRNA annotation and deep-sequencing data. (PMID: 21037258) Kozomara A. … Griffiths-Jones S. (Nucleic Acids Res. 2011) 3 64
  5. 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 64

Products for MIR4750 Gene

Sources for MIR4750 Gene

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