RHOBTB1
Rho Related BTB Domain Containing 1
Gene Information Card
| Symbol | RHOBTB1 |
|---|---|
| Full Name | Rho Related BTB Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.2 |
| NCBI Gene ID | 9886 ncbi.nlm.nih.gov/gene/9886 |
| Ensembl ID | ENSG00000107796 |
| UniProt ID | O94844 |
| OMIM ID | 607351 |
| HGNC ID | 18758 |
| Aliases | KIAA0711, DKFZp686P20110 |
Description
RHOBTB1 encodes a member of the Rho family of small GTPases that contains a BTB (broad-complex, tramtrack, and bric-a-brac) domain. The protein is involved in actin cytoskeleton organization, cell migration, and transcriptional regulation. It acts as a molecular switch cycling between an active GTP-bound and inactive GDP-bound state. The BTB domain mediates protein-protein interactions and may function in ubiquitination or transcriptional repression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of RHOBTB1 expression may alter cell migration and invasion | PMID: 25691885 |
| Intellectual disability | Rare variants in RHOBTB1 have been associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 6.5 | Lung cancer cells |
| MCF7 | 4.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted loss-of-function variants are rare.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • protein binding |
| • actin cytoskeleton organization | • small GTPase mediated signal transduction |
| • BTB domain binding |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
Protein Summary
RHOBTB1 is a 696-amino acid protein containing a Rho GTPase domain and a C-terminal BTB domain. It localizes to the cytoplasm and nucleus. The protein cycles between active GTP-bound and inactive GDP-bound states, regulating actin dynamics and cell motility. The BTB domain may mediate interactions with cullin-based ubiquitin ligases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOBTB1 Knockout HEK293 Cell Line | EDJ-KQ6800 | Human | 9886 | Details Get a Quote |
| RHOBTB1 Knockout A-549 Cell Line | EDJ-KQ31294 | Human | 9886 | Details Get a Quote |
| RHOBTB1 Knockout HCT 116 Cell Line | EDJ-KQ31295 | Human | 9886 | Details Get a Quote |
| RHOBTB1 Knockout HeLa Cell Line | EDJ-KQ31296 | Human | 9886 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
