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

Gene ID: 22836, updated on 17-Mar-2024

Summary

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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 and small GTPase binding activity. Involved in retrograde transport, endosome to Golgi. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 37.7), ovary (RPKM 32.7) and 24 other tissues See more
Orthologs
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Genomic context

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See RHOBTB3 in Genome Data Viewer
Location:
5q15
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95717624..95796361)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96232572..96297590)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95067040..95132065)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Rieske Fe-S domain containing Neighboring gene spermatogenesis associated 9 Neighboring gene uncharacterized LOC105379090 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:95051904-95052077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22801 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:95159178-95159678 Neighboring gene uncharacterized LOC124901029 Neighboring gene glutaredoxin Neighboring gene GGCT pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1. Kim K, et al. Mol Cells, 2022 Sep 30. PMID 35698915, Free PMC Article
  2. RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells. Long M, et al. Cells, 2020 Apr 28. PMID 32354068, Free PMC Article
  3. Atypical Rho GTPases of the RhoBTB Subfamily: Roles in Vesicle Trafficking and Tumorigenesis. Ji W, et al. Cells, 2016 Jun 14. PMID 27314390, Free PMC Article
  4. RhoBTB3 interacts with the 5-HT7a receptor and inhibits its proteasomal degradation. Matthys A, et al. Cell Signal, 2012 May. PMID 22245496
  5. Evolution of the Rho family of ras-like GTPases in eukaryotes. Boureux A, et al. Mol Biol Evol, 2007 Jan. PMID 17035353, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1.
    Title: RhoBTB3 Regulates Proliferation and Invasion of Breast Cancer Cells via Col1a1.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0878

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 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)

  1. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    95717624..95796361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    96232572..96297590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352075.1 → XP_054208050.1  rho-related BTB domain-containing protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94955.2 GenPept UniProtKB/Swiss-Prot:O94955

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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