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Aliases for RHOBTB3 Gene

Aliases for RHOBTB3 Gene

  • Rho Related BTB Domain Containing 3 2 3 5
  • Rho-Related BTB Domain-Containing Protein 3 3
  • Rho-Related BTB Domain Containing 3 2
  • EC 3.6.1.- 4
  • KIAA0878 4

External Ids for RHOBTB3 Gene

Previous GeneCards Identifiers for RHOBTB3 Gene

  • GC05P094324
  • GC05P095531
  • GC05P095082
  • GC05P095141
  • GC05P095092
  • GC05P090257

Summaries for RHOBTB3 Gene

Entrez Gene Summary for RHOBTB3 Gene

  • RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]

GeneCards Summary for RHOBTB3 Gene

RHOBTB3 (Rho Related BTB Domain Containing 3) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include GTP binding and Rab GTPase binding.

UniProtKB/Swiss-Prot for RHOBTB3 Gene

  • Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9.

Gene Wiki entry for RHOBTB3 Gene

Additional gene information for RHOBTB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHOBTB3 Gene

Genomics for RHOBTB3 Gene

GeneHancer (GH) Regulatory Elements for RHOBTB3 Gene

Promoters and enhancers for RHOBTB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J095724 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.2 +16.8 16755 11.6 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 MEF2D GLIS1 RHOBTB3 TTC37 LOC105379096 ENSG00000249545 ARSK SPATA9 GLRX ELL2 ENSG00000250240
GH05J095709 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -2.1 -2137 4.5 HDGF PKNOX1 SMAD1 FOXA2 ARNT NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B RHOBTB3 SPATA9 TTC37 ENSG00000250240
GH05J095706 Promoter/Enhancer 1.1 EPDnew dbSUPER 650.4 -7.1 -7115 0.1 ZNF202 SP3 NRF1 SP2 ZBTB5 CHAMP1 CC2D1A GATA3 IKZF1 TRIM24 RHOBTB3 SPATA9 ENSG00000250240
GH05J095714 Enhancer 1 ENCODE dbSUPER 650.7 +1.7 1693 2.4 JUN CEBPG YBX1 BMI1 ZBTB40 BATF IRF4 FOSL1 ZNF316 ATF7 RHOBTB3 GLRX ARSK ENSG00000250240
GH05J095757 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.1 +46.9 46947 5.7 PKNOX1 FOXA2 SMAD1 MLX ARID4B FEZF1 YY1 TCF12 ATF7 FOS RHOBTB3 ENSG00000250240 GLRX SPATA9 LINC01554 ENSG00000251409 HSPD1P11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHOBTB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHOBTB3 gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • POU2F1a
  • POU2F1
  • Chx10
  • Nkx6-1
  • Pbx1a
  • HNF-1
  • HNF-1A

Genomic Locations for RHOBTB3 Gene

Genomic Locations for RHOBTB3 Gene
chr5:95,713,522-95,824,383
(GRCh38/hg38)
Size:
110,862 bases
Orientation:
Plus strand
chr5:95,049,226-95,160,087
(GRCh37/hg19)
Size:
110,862 bases
Orientation:
Plus strand

Genomic View for RHOBTB3 Gene

Genes around RHOBTB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHOBTB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHOBTB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHOBTB3 Gene

Proteins for RHOBTB3 Gene

  • Protein details for RHOBTB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94955-RHBT3_HUMAN
    Recommended name:
    Rho-related BTB domain-containing protein 3
    Protein Accession:
    O94955
    Secondary Accessions:
    • A0PJA4
    • A8K1W9
    • Q8IW06

    Protein attributes for RHOBTB3 Gene

    Size:
    611 amino acids
    Molecular mass:
    69413 Da
    Quaternary structure:
    • Interacts with RAB9A and RAB9B (at lower level compared to RAB9A-binding). Interacts with M6PRBP1/TIP47.
    SequenceCaution:
    • Sequence=BAA74901.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RHOBTB3 Gene

Post-translational modifications for RHOBTB3 Gene

  • Ubiquitination at posLast=592592 and Lys105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHOBTB3 Gene

Domains & Families for RHOBTB3 Gene

Gene Families for RHOBTB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RHOBTB3 Gene

Suggested Antigen Peptide Sequences for RHOBTB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94955

UniProtKB/Swiss-Prot:

RHBT3_HUMAN :
  • Although predicted to be a GTP-binding protein because of the presence of a Rho-like region, binds and hydrolyzes ATP. In contrast to Rho-like proteins, the conserved Asp residue in position 138 in the G4 region is replaced by an Asn, decreasing the ability to bind GTP.
Domain:
  • Although predicted to be a GTP-binding protein because of the presence of a Rho-like region, binds and hydrolyzes ATP. In contrast to Rho-like proteins, the conserved Asp residue in position 138 in the G4 region is replaced by an Asn, decreasing the ability to bind GTP.
genes like me logo Genes that share domains with RHOBTB3: view

Function for RHOBTB3 Gene

Molecular function for RHOBTB3 Gene

UniProtKB/Swiss-Prot Function:
Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=48 uM for ATP {ECO:0000269 PubMed:19490898};

Enzyme Numbers (IUBMB) for RHOBTB3 Gene

Phenotypes From GWAS Catalog for RHOBTB3 Gene

Gene Ontology (GO) - Molecular Function for RHOBTB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI,IEA 19490898
GO:0005524 ATP binding IDA,IEA 19490898
GO:0005525 GTP binding IBA,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RHOBTB3: view
genes like me logo Genes that share phenotypes with RHOBTB3: view

Animal Models for RHOBTB3 Gene

MGI Knock Outs for RHOBTB3:

Animal Model Products

miRNA for RHOBTB3 Gene

miRTarBase miRNAs that target RHOBTB3

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHOBTB3 Gene

Localization for RHOBTB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHOBTB3 Gene

Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHOBTB3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
cytosol 3
endosome 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RHOBTB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IBA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with RHOBTB3: view

Pathways & Interactions for RHOBTB3 Gene

genes like me logo Genes that share pathways with RHOBTB3: view

Gene Ontology (GO) - Biological Process for RHOBTB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA --
GO:0007015 actin filament organization IBA --
GO:0007163 establishment or maintenance of cell polarity IBA --
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IBA --
genes like me logo Genes that share ontologies with RHOBTB3: view

No data available for SIGNOR curated interactions for RHOBTB3 Gene

Drugs & Compounds for RHOBTB3 Gene

No Compound Related Data Available

Transcripts for RHOBTB3 Gene

mRNA/cDNA for RHOBTB3 Gene

Unigene Clusters for RHOBTB3 Gene

Rho-related BTB domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHOBTB3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for RHOBTB3 Gene

GeneLoc Exon Structure for
RHOBTB3
ECgene alternative splicing isoforms for
RHOBTB3

Expression for RHOBTB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHOBTB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RHOBTB3 Gene

This gene is overexpressed in Placenta (41.8) and Bone (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RHOBTB3 Gene



Protein tissue co-expression partners for RHOBTB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RHOBTB3 Gene:

RHOBTB3

SOURCE GeneReport for Unigene cluster for RHOBTB3 Gene:

Hs.445030

mRNA Expression by UniProt/SwissProt for RHOBTB3 Gene:

O94955-RHBT3_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis.

Evidence on tissue expression from TISSUES for RHOBTB3 Gene

  • Nervous system(4.7)
  • Muscle(4.3)
  • Skin(3.6)
  • Pancreas(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with RHOBTB3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHOBTB3 Gene

Orthologs for RHOBTB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHOBTB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHOBTB3 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHOBTB3 34 33
  • 93.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RHOBTB3 34 33
  • 91.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rhobtb3 16 34 33
  • 89.8 (n)
rat
(Rattus norvegicus)
Mammalia Rhobtb3 33
  • 89.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHOBTB3 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHOBTB3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHOBTB3 34 33
  • 72.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHOBTB3 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhobtb3 33
  • 63.1 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-6b12.5 33
  • 54.05 (n)
RHOBTB3 34
  • 46 (a)
OneToOne
Species where no ortholog for RHOBTB3 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RHOBTB3 Gene

ENSEMBL:
Gene Tree for RHOBTB3 (if available)
TreeFam:
Gene Tree for RHOBTB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHOBTB3: view image

Paralogs for RHOBTB3 Gene

(1) SIMAP similar genes for RHOBTB3 Gene using alignment to 10 proteins:

  • RHBT3_HUMAN
  • D6R935_HUMAN
  • D6RC79_HUMAN
  • D6RG10_HUMAN
  • H0Y8R9_HUMAN
  • H0Y9A8_HUMAN
  • H0Y9P6_HUMAN
  • H0Y9R7_HUMAN
  • H0Y9W9_HUMAN
  • H0YA85_HUMAN
genes like me logo Genes that share paralogs with RHOBTB3: view

No data available for Paralogs for RHOBTB3 Gene

Variants for RHOBTB3 Gene

Sequence variations from dbSNP and Humsavar for RHOBTB3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000005574 -- 95,785,330(+) G/A intron_variant
rs1000062755 -- 95,736,229(+) T/A intron_variant
rs1000107543 -- 95,711,652(+) GCG/G upstream_transcript_variant
rs1000191075 -- 95,767,043(+) A/G intron_variant
rs1000206368 -- 95,749,324(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RHOBTB3 Gene

Variant ID Type Subtype PubMed ID
esv3605839 CNV loss 21293372
esv3605840 CNV loss 21293372
nsv598955 CNV gain 21841781
nsv830409 CNV gain 17160897
nsv964909 CNV duplication 23825009

Variation tolerance for RHOBTB3 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.17; 80.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHOBTB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHOBTB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHOBTB3 Gene

Disorders for RHOBTB3 Gene

Additional Disease Information for RHOBTB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RHOBTB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHOBTB3 Gene

Publications for RHOBTB3 Gene

  1. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 44 58
  2. RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport. (PMID: 19490898) Espinosa EJ … Pfeffer SR (Cell 2009) 3 4 58
  3. Evolution of the Rho family of ras-like GTPases in eukaryotes. (PMID: 17035353) Boureux A … Fort P (Molecular biology and evolution 2007) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RHOBTB3 Gene

Sources for RHOBTB3 Gene

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