The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate... See more...

Aliases for RHOBTB1 Gene

Aliases for RHOBTB1 Gene

  • Rho Related BTB Domain Containing 1 2 3 5
  • Rho-Related BTB Domain-Containing Protein 1 3 4
  • KIAA0740 2 4
  • Rho-Related BTB Domain Containing 1 2
  • RHOBTB1 5

External Ids for RHOBTB1 Gene

Previous GeneCards Identifiers for RHOBTB1 Gene

  • GC10M061425
  • GC10M061654
  • GC10M062521
  • GC10M061973
  • GC10M062299
  • GC10M062629
  • GC10M056618

Summaries for RHOBTB1 Gene

Entrez Gene Summary for RHOBTB1 Gene

  • The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

GeneCards Summary for RHOBTB1 Gene

RHOBTB1 (Rho Related BTB Domain Containing 1) is a Protein Coding gene. Diseases associated with RHOBTB1 include Ascaridiasis and Toxic Megacolon. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is RHOBTB2.

Gene Wiki entry for RHOBTB1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHOBTB1 Gene

Genomics for RHOBTB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHOBTB1 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
GH10J060942 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.4 +58.0 57963 3.8 GATAD2A HNRNPL PRDM10 ZNF629 RFX1 ZNF692 FOXA1 MTA2 ZIC2 RBFOX2 RHOBTB1 LOC107984236 RNU2-72P RF00004-015 CDK1
GH10J061000 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 257 2.3 HNRNPL GATAD2A PRDM10 SOX13 MTA2 PHF21A ZIC2 ZSCAN4 RBFOX2 PKNOX1 RHOBTB1 LINC00845 CDK1
GH10J060977 Enhancer 1.2 Ensembl ENCODE 18.2 +22.4 22419 4.5 GATAD2A ZNF629 LEF1 SOX13 ZNF692 RCOR2 JUND PRDM1 DDX20 MTA2 RHOBTB1 ARID5B RNU2-72P LINC00845 CDK1
GH10J060847 Enhancer 1 Ensembl ENCODE dbSUPER 19.9 +152.6 152605 2.2 ATF7 ESR1 ZKSCAN1 CTBP1 ESRRA ATF2 NR2F2 CTCF MBD2 NFIB RHOBTB1 piR-33625 RF00017-672 CDK1
GH10J060962 Enhancer 1 Ensembl ENCODE 18.1 +36.9 36901 4 CREB1 CTCF ZNF629 LEF1 JUND FOXA1 PRDM1 ZNF24 REST RAD21 RHOBTB1 RNU2-72P LINC00845 LOC107984236 CDK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHOBTB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHOBTB1

Top Transcription factor binding sites by QIAGEN in the RHOBTB1 gene promoter:
  • Chx10
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXI1
  • HFH-3

Genomic Locations for RHOBTB1 Gene

Genomic Locations for RHOBTB1 Gene
chr10:60,869,438-61,001,486
(GRCh38/hg38)
Size:
132,049 bases
Orientation:
Minus strand
chr10:62,629,196-62,761,198
(GRCh37/hg19)
Size:
132,003 bases
Orientation:
Minus strand

Genomic View for RHOBTB1 Gene

Genes around RHOBTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHOBTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHOBTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHOBTB1 Gene

Proteins for RHOBTB1 Gene

  • Protein details for RHOBTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94844-RHBT1_HUMAN
    Recommended name:
    Rho-related BTB domain-containing protein 1
    Protein Accession:
    O94844

    Protein attributes for RHOBTB1 Gene

    Size:
    696 amino acids
    Molecular mass:
    79417 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RHOBTB1 Gene

Post-translational modifications for RHOBTB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHOBTB1 Gene

Domains & Families for RHOBTB1 Gene

Gene Families for RHOBTB1 Gene

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

Protein Domains for RHOBTB1 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • BTB/POZ domain
  • Ras small GTPase, Rho type
ProtoNet:

Suggested Antigen Peptide Sequences for RHOBTB1 Gene

GenScript: Design optimal peptide antigens:
  • Rho-related BTB domain-containing protein 1 (RHBT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94844

UniProtKB/Swiss-Prot:

RHBT1_HUMAN :
  • Belongs to the small GTPase superfamily. Rho family.
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RHOBTB1: view

Function for RHOBTB1 Gene

Phenotypes From GWAS Catalog for RHOBTB1 Gene

Gene Ontology (GO) - Molecular Function for RHOBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0005525 GTP binding IBA 21873635
GO:0019901 protein kinase binding IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB1: view
genes like me logo Genes that share phenotypes with RHOBTB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHOBTB1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHOBTB1 Gene

Localization for RHOBTB1 Gene

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 RHOBTB1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
cytoskeleton 3
extracellular 2
endosome 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHOBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RHOBTB1 Gene

Pathways & Interactions for RHOBTB1 Gene

genes like me logo Genes that share pathways with RHOBTB1: view

Pathways by source for RHOBTB1 Gene

3 Reactome pathways for RHOBTB1 Gene
1 KEGG pathway for RHOBTB1 Gene

Gene Ontology (GO) - Biological Process for RHOBTB1 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 --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IBA 21873635
genes like me logo Genes that share ontologies with RHOBTB1: view

No data available for SIGNOR curated interactions for RHOBTB1 Gene

Drugs & Compounds for RHOBTB1 Gene

No Compound Related Data Available

Transcripts for RHOBTB1 Gene

mRNA/cDNA for RHOBTB1 Gene

12 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHOBTB1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHOBTB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - -
SP7: -
SP8: - - - - - - - -
SP9: - - - -
SP10: - - - - - - - -
SP11:
SP12:
SP13: - - - - - - -
SP14: - - - - - - -
SP15:
SP16: -
SP17:
SP18: - -

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for RHOBTB1 Gene

GeneLoc Exon Structure for
RHOBTB1

Expression for RHOBTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RHOBTB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHOBTB1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.0).

Protein differential expression in normal tissues from HIPED for RHOBTB1 Gene

This gene is overexpressed in Heart (61.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RHOBTB1 Gene



Protein tissue co-expression partners for RHOBTB1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHOBTB1

SOURCE GeneReport for Unigene cluster for RHOBTB1 Gene:

Hs.737374

mRNA Expression by UniProt/SwissProt for RHOBTB1 Gene:

O94844-RHBT1_HUMAN
Tissue specificity: Ubiquitous, with highest levels in skeletal muscle, placenta, testis, stomach, and kidney, followed by uterus and adrenal gland. Expressed in a variety of fetal tissues.

Evidence on tissue expression from TISSUES for RHOBTB1 Gene

  • Nervous system(4.9)
  • Lung(2.9)
  • Kidney(2.8)
  • Muscle(2.6)
  • Skin(2.6)
  • Intestine(2.5)
  • Blood(2.4)
  • Heart(2.4)
  • Spleen(2.3)
  • Bone marrow(2.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with RHOBTB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RHOBTB1 Gene

Orthologs for RHOBTB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHOBTB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RHOBTB1 30 31
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RHOBTB1 30 31
  • 89.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RHOBTB1 30 31
  • 88.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RHOBTB1 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhobtb1 30
  • 83.36 (n)
Mouse
(Mus musculus)
Mammalia Rhobtb1 30 17 31
  • 83.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RHOBTB1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RHOBTB1 30 31
  • 76.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RHOBTB1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhobtb1 30
  • 73.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii RHOBTB1 31
  • 74 (a)
OneToOne
rhobtb1 30
  • 69 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RhoBTB 31
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
ManyToMany
CSA.4181 31
  • 38 (a)
ManyToMany
Species where no ortholog for RHOBTB1 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)
  • 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 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 RHOBTB1 Gene

ENSEMBL:
Gene Tree for RHOBTB1 (if available)
TreeFam:
Gene Tree for RHOBTB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RHOBTB1: view image

Paralogs for RHOBTB1 Gene

(6) SIMAP similar genes for RHOBTB1 Gene using alignment to 2 proteins:

  • RHBT1_HUMAN
  • Q567T3_HUMAN
genes like me logo Genes that share paralogs with RHOBTB1: view

Variants for RHOBTB1 Gene

Additional dbSNP identifiers (rs#s) for RHOBTB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RHOBTB1 Gene

Variant ID Type Subtype PubMed ID
esv2737496 CNV deletion 23290073
nsv1125176 CNV insertion 24896259

Variation tolerance for RHOBTB1 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHOBTB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHOBTB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHOBTB1 Gene

Disorders for RHOBTB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RHOBTB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ascaridiasis
  • ascariasis
toxic megacolon
  • megacolon, toxic
cardiomyopathy, familial hypertrophic, 1
  • fhc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHOBTB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RHOBTB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHOBTB1 Gene

Publications for RHOBTB1 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. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C … Munroe PB (Nature genetics 2009) 3 41
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for RHOBTB1 Gene

  • Signalway Proteins for RHOBTB1

Sources for RHOBTB1 Gene