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] See more...

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 4
  • KIAA0878 2 4
  • Rho-Related BTB Domain Containing 3 2
  • EC 3.6.1.- 4
  • RHOBTB3 5

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. An important paralog of this gene is RAC1.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHOBTB3 Gene

Genomics for RHOBTB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHOBTB3 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHOBTB3

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

Genomic Locations for RHOBTB3 Gene

Latest Assembly
chr5:95,713,522-95,824,383
(GRCh38/hg38)
Size:
110,862 bases
Orientation:
Plus strand

Previous Assembly
chr5:95,067,040-95,132,065
(GRCh37/hg19 by Entrez Gene)
Size:
65,026 bases
Orientation:
Plus strand

chr5:95,049,226-95,160,087
(GRCh37/hg19 by Ensembl)
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

  • Glycosylation at Asn407
  • Ubiquitination at Lys105 and Lys592
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • RHBT3_HUMAN (1717)

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

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for RHOBTB3 Gene

GenScript: Design optimal peptide antigens:
  • Rho-related BTB domain-containing protein 3 (RHBT3_HUMAN)

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:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005515 protein binding IEA,IPI 19490898
GO:0005524 ATP binding IEA,IDA 19490898
GO:0005525 GTP binding IEA,IBA 21873635
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:

miRNA for RHOBTB3 Gene

miRTarBase miRNAs that target RHOBTB3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHOBTB3

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
plasma membrane 4
extracellular 4
cytoskeleton 4
golgi apparatus 4
cytosol 3
nucleus 2
endosome 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

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 --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IBA 21873635
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:0007015 actin filament organization IBA 21873635
GO:0007163 establishment or maintenance of cell polarity IBA 21873635
GO:0008360 regulation of cell shape IBA 21873635
GO:0008584 male gonad development IEA --
GO:0016192 vesicle-mediated transport IEA --
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

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHOBTB3

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

Expression for RHOBTB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Muscle(4.4)
  • Skin(4)
  • Lung(2.4)
  • Liver(2.3)
  • Heart(2.2)
  • Pancreas(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RHOBTB3: view

Primer products for research

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 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RHOBTB3 30 31
  • 93.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RHOBTB3 30 31
  • 91.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rhobtb3 30 17 31
  • 89.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhobtb3 30
  • 89.63 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RHOBTB3 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RHOBTB3 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RHOBTB3 30 31
  • 72.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RHOBTB3 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhobtb3 30
  • 63.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-6b12.5 30
  • 54.05 (n)
RHOBTB3 31
  • 46 (a)
OneToOne
Species where no ortholog for RHOBTB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Variants for RHOBTB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHOBTB3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs17855649 - p.Arg20Gln
rs2302980 - p.Pro21Arg
rs34899 - p.Asn262Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RHOBTB3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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. Atypical Rho GTPases of the RhoBTB Subfamily: Roles in Vesicle Trafficking and Tumorigenesis. (PMID: 27314390) Ji W … Rivero F (Cells 2016) 2 3
  2. RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport. (PMID: 19490898) Espinosa EJ … Pfeffer SR (Cell 2009) 3 4
  3. 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 41
  4. Evolution of the Rho family of ras-like GTPases in eukaryotes. (PMID: 17035353) Boureux A … Fort P (Molecular biology and evolution 2007) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RHOBTB3 Gene

Sources for RHOBTB3 Gene