RHOBTB3 Rho related BTB domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHOBTB3provided by HGNC
Official Full Name: Rho related BTB domain containing 3provided by HGNC
Primary source: HGNC:HGNC:18757
See related: Ensembl:ENSG00000164292 MIM:607353; AllianceGenome:HGNC:18757
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables ATP binding activity; ATP hydrolysis activity; and small GTPase binding activity. Involved in retrograde transport, endosome to Golgi. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 37.7), ovary (RPKM 32.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q15

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (95717624..95796361)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (96232572..96297590)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (95067040..95132065)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA circRHOBTB3 inhibits ovarian cancer progression through PI3K/AKT signaling pathway.
Title: Circular RNA circRHOBTB3 inhibits ovarian cancer progression through PI3K/AKT signaling pathway.
NR1H4-mediated circRHOBTB3 modulates the proliferation, metastasis, and Warburg effects of cervical cancer through interacting with IGF2BP3.
Title: NR1H4-mediated circRHOBTB3 modulates the proliferation, metastasis, and Warburg effects of cervical cancer through interacting with IGF2BP3.
RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1.
Title: RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1.
FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
Title: FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells.
Title: RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells.
RHOBTB3 serves as a scaffold to organize a multi-subunit complex that promotes the hydroxylation, ubiquitination and degradation of HIFalpha.
Title: RHOBTB3 promotes proteasomal degradation of HIFα through facilitating hydroxylation and suppresses the Warburg effect.
Reveal a novel role for a RhoBTB3 in catalyzing cyclin E turnover during S phase, as well as an unexpected, essential role for the Golgi as a ubiquitylation platform for cell cycle control.
Title: Golgi-associated RhoBTB3 targets cyclin E for ubiquitylation and promotes cell cycle progression.
The interaction between RhoBTB3 and the 5-HT7a receptor strongly inhibits proteasomal degradation of the 5-HT7a receptor.
Title: RhoBTB3 interacts with the 5-HT7a receptor and inhibits its proteasomal degradation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Study reports that the atypical Rho GTPase family member, RhoBTB3, binds directly to Rab9 GTPase and functions with Rab9 in protein transport from endosomes to the trans Golgi network.
Title: RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004C42 (e-PCR)
- UniSTS:34819

RH18360 (e-PCR)
- UniSTS:32802

D5S1660E (e-PCR)
- UniSTS:61229

RH78553 (e-PCR)
- UniSTS:53580

STS-Z40605 (e-PCR)
- UniSTS:1367

L28220 (e-PCR)
- UniSTS:79516

RH47558 (e-PCR)
- UniSTS:5037

RH80603 (e-PCR)
- UniSTS:84414

D5S2609 (e-PCR)
- UniSTS:9933

D5S1783 (e-PCR)
- UniSTS:153595

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	TAS Traceable Author Statement more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho-related BTB domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014899.4 → NP_055714.3 rho-related BTB domain-containing protein 3

See identical proteins and their annotated locations for NP_055714.3

Status: VALIDATED

Source sequence(s)

AB020685, AC008821, BC020231, CN361948

Consensus CDS

CCDS4077.1

UniProtKB/Swiss-Prot

A0PJA4, A8K1W9, O94955, Q8IW06

Related

ENSP00000369318.3, ENST00000379982.8

Conserved Domains (3) summary

smart00225
Location:421 → 518

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00651
Location:413 → 515

BTB; BTB/POZ domain

cl21455
Location:34 → 174

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

95717624..95796361

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009237.2 → XP_016864726.1 rho-related BTB domain-containing protein 3 isoform X2
XM_011543279.3 → XP_011541581.1 rho-related BTB domain-containing protein 3 isoform X1

Conserved Domains (3) summary

smart00225
Location:299 → 396

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00651
Location:291 → 393

BTB; BTB/POZ domain

cl21455
Location:34 → 174

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases