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RHOBTB3 Gene

protein-coding GIFtS: 56
GCID: GC05P095092

Rho-Related BTB Domain Containing 3

See related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Rho-Related BTB Domain Containing 3¹ ²
KIAA0878³ ⁵
Rho-Related BTB Domain-Containing Protein 3²
EC 3.6.1.-³

External Ids:	HGNC: 18757¹	Entrez Gene: 22836²	Ensembl: ENSG00000164292⁷	OMIM: 607353⁵	UniProtKB: O94955³

Export aliases for RHOBTB3 gene to outside databases

Previous GC identifers: GC05P094324 GC05P095531 GC05P095082 GC05P095141 GC05P090257

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with RHOBTB3 include atherosclerosis. GO annotations related to this gene include GTP binding and Rab GTPase binding.

UniProtKB/Swiss-Prot: RHBT3_HUMAN, O94955

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

Gene Wiki entry for RHOBTB3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000005.10 NC_018916.2 NT_034772.7

Regulatory elements:

Regulatory transcription factor binding sites in the RHOBTB3 gene promoter:
Pbx1a FOXO3 HNF-1A FOXO3b POU2F1 Nkx6-1 HNF-1 POU2F1a FOXO3a Chx10
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RHOBTB3 promoter sequence

Search Chromatin IP Primers for RHOBTB3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHOBTB3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q15 Ensembl cytogenetic band: 5q15 HGNC cytogenetic band: 5q15

RHOBTB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHOBTB3 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P095092: view genomic region (about GC identifiers)

Start:	95,049,226 bp from pter	End:	95,160,087 bp from pter
Size:	110,862 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RHBT3_HUMAN, O94955 (See protein sequence)

Recommended Name: Rho-related BTB domain-containing protein 3

Size: 611 amino acids; 69413 Da

Subunit: Interacts with RAB9A and RAB9B (at lower level compared to RAB9A-binding). Interacts with M6PRBP1/TIP47

Sequence caution: Sequence=BAA74901.2; Type=Erroneous initiation;

Secondary accessions: A0PJA4 A8K1W9 Q8IW06

Explore the universe of human proteins at neXtProt for RHOBTB3: NX_O94955

Explore proteomics data for RHOBTB3 at MOPED

Post-translational modifications:

Ubiquitination² at Lys105, Lys592

Modification sites at PhosphoSitePlus

See RHOBTB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055714.3

ENSEMBL proteins:

ENSP00000423688 ENSP00000426479 ENSP00000369318 ENSP00000423652 ENSP00000421875

ENSP00000422360 ENSP00000424844 ENSP00000426390 ENSP00000425342 ENSP00000424700

RHOBTB3 Human Recombinant Protein Products:

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	Novus Biologicals RHOBTB3 Proteins Novus Biologicals RHOBTB3 Lysates
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	Cloud-Clone Corp. Proteins for RHOBTB3

RHOBTB3 Antibody Products:

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	Abcam antibodies for RHOBTB3
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	Search ThermoFisher Antibodies for RHOBTB3
	LSBio Antibodies in human, mouse, rat for RHOBTB3

RHOBTB3 Assay Products:

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	Cloud-Clone Corp. ELISAs for RHOBTB3 Cloud-Clone Corp. CLIAs for RHOBTB3

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

BTBD: BTB/POZ domain containing

5 InterPro protein domains:

IPR001806 Small_GTPase

IPR000210 BTB/POZ-like

IPR011333 BTB/POZ_fold

IPR027417 P-loop_NTPase

IPR013069 BTB_POZ

Graphical View of Domain Structure for InterPro Entry O94955

ProtoNet protein and cluster: O94955

1 Blocks protein domain: IPB000210 BTB/POZ domain

UniProtKB/Swiss-Prot: RHBT3_HUMAN, O94955

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

Similarity: Contains 2 BTB (POZ) domains

RHOBTB3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: RHBT3_HUMAN, O94955

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

Biophysicochemical properties: Kinetic parameters: KM=48 uM for ATP;

Enzyme Number (IUBMB): EC 3.6.1.-¹

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19490898
GO:0005524	ATP binding	IDA	19490898
GO:0005525	GTP binding	IEA	--
GO:0016887	ATPase activity	IDA	19490898
GO:0017137	Rab GTPase binding	IPI	19490898

RHOBTB3 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for RHOBTB3:

Increased cell death HMECs cel

Synthetic lethal with Ras

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rhobtb3):

behavior/neurological	craniofacial	growth/size/body	limbs/digits/tail	mortality/aging
skeleton

RHOBTB3 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RHOBTB3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RHOBTB3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHOBTB3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RHOBTB3

miRNA Products:		miRTarBase miRNAs that target RHOBTB3: hsa-mir-98-5p (MIRT027831), hsa-mir-215-5p (MIRT024323), hsa-mir-192-5p (MIRT026931)

		Block miRNA regulation of human, mouse, rat RHOBTB3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RHOBTB3 (see all 48):
		hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-578 hsa-miR-548l hsa-miR-183* hsa-miR-208b hsa-miR-208a

		SwitchGear 3'UTR luciferase reporter plasmid: RHOBTB3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RHOBTB3
		Predesigned siRNA for gene silencing in human, mouse, rat RHOBTB3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RHOBTB3

Clone Products:		OriGene clones in human, mouse for RHOBTB3 (see all 6) OriGene ORF clones in mouse, rat for RHOBTB3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RHOBTB3 (NM_014899)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHOBTB3
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RHOBTB3
		Browse ESI BIO Cell Lines and PureStem Progenitors for RHOBTB3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHOBTB3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

RHBT3_HUMAN, O94955: Golgi apparatus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
golgi apparatus	5
cytosol	2
endoplasmic reticulum	1
endosome	1
extracellular	1
mitochondrion	1
nucleus	1
peroxisome	1
plasma membrane	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IEA	--

RHOBTB3 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Pathway & Disease-focused RT² Profiler PCR Array including RHOBTB3:

Ubiquitin Ligases in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for RHOBTB3

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for RHOBTB3 (O94955^{1, 3} ENSP00000369318⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLIN3	O60664³, ENSP00000221957⁴	I2D: score=1 STRING: ENSP00000221957
RAB9B	Q9NP90³, ENSP00000243298⁴	I2D: score=1 STRING: ENSP00000243298
HGS	O14964³, ENSP00000331201⁴	I2D: score=1 STRING: ENSP00000331201
HTR7	ENSP00000337949⁴	STRING: ENSP00000337949
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	IDA	19490898
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0042147	retrograde transport, endosome to Golgi	IMP	19490898

RHOBTB3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RHOBTB3 (RHBT3)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RHOBTB3 gene:

NM_014899.3

Unigene Cluster for RHOBTB3:

Rho-related BTB domain containing 3

Hs.445030 [show with all ESTs]

Unigene Representative Sequence: NM_014899

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000515852 ENST00000510226 ENST00000504949(uc003klk.1) ENST00000506959

ENST00000506817(uc003kll.3) ENST00000379982(uc003klm.3) ENST00000512878

ENST00000510623 ENST00000502541 ENST00000504179 ENST00000510313 ENST00000507186

ENST00000511558 ENST00000503737 ENST00000513091 ENST00000514198

miRNA Products:		Block miRNA regulation of human, mouse, rat RHOBTB3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RHOBTB3 (see all 48):
		hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-578 hsa-miR-548l hsa-miR-183* hsa-miR-208b hsa-miR-208a

		SwitchGear 3'UTR luciferase reporter plasmid: RHOBTB3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RHOBTB3
		Predesigned siRNA for gene silencing in human, mouse, rat RHOBTB3

Clone Products:		OriGene clones in human, mouse for RHOBTB3 (see all 6) OriGene ORF clones in mouse, rat for RHOBTB3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RHOBTB3 (NM_014899)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHOBTB3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHOBTB3

Primer Products:		OriGene qPCR primer pairs and template standards for RHOBTB3 OriGene qSTAR qPCR primer pairs in human, mouse for RHOBTB3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHOBTB3
		QuantiTect SYBR Green Assays in human, mouse, rat RHOBTB3
		QuantiFast Probe-based Assays in human, mouse, rat RHOBTB3

Additional mRNA sequence:

AB020685.1 AF131794.1 AK023621.1 AK057894.1 AK290034.1 BC013169.1 BC020231.1 BC041337.2

BC047884.1

Selected DOTS entries (see all 33):

DT.100778673 DT.448440 DT.95232057 DT.446835 DT.100817928 DT.100817936 DT.203087 DT.92437794

DT.97764833 DT.101968678 DT.86846931 DT.120837932 DT.100817935 DT.100817937 DT.120837883 DT.120837975

DT.40266736 DT.120837936 DT.405644 DT.95271728 DT.100817930 DT.100817932 DT.100817933 DT.120837858

Selected AceView cDNA sequences (see all 453):

BE219241 BU689595 BU077428 CA423164 BQ893734 BM667134 H89899 BC020231

CB159287 BG619889 BU619786 AU102654 AA708735 BQ010594 CA412023 AI921481

CA436646 AA150218 BU783221 CD516274 CR622454 AA037718 BX117536 AI624130

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for RHOBTB3 (see all 7) About this scheme

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:																															-

ECgene alternative splicing isoforms for RHOBTB3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RHOBTB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGGCTTCAT

About this image

RHOBTB3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 11) fully expand


NULL (Uncategorized) fully expand to see all 4 entries
Definitive endoderm-like cells

Ovary (Reproductive System)
Cumulus Cells Antral Follicle

Adipose (Muscoskeletal System)
White adipocyte-like cells

Primitive Streak (Early Embryonic Tissues)
Primitive streak-like cells

Neural Tube (Nervous System)
Telencephalon

RHOBTB3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RHOBTB3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.445030

UniProtKB/Swiss-Prot: RHBT3_HUMAN, O94955

Tissue specificity: Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis

Pathway & Disease-focused RT² Profiler PCR Array including RHOBTB3:

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for RHOBTB3 OriGene qSTAR qPCR primer pairs in human, mouse for RHOBTB3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHOBTB3
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		QuantiFast Probe-based Assays in human, mouse, rat RHOBTB3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHOBTB3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for RHOBTB3 gene from Selected species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rhobtb3^{1 , 5}	Rho-related BTB domain containing 3^{1, 5}	89.8(n)¹ 95.74(a)¹		13 (40.95 cM)⁵ 73296¹ NM_028493.2¹ NP_082769.1¹ 75869537⁵
chicken (Gallus gallus)	Aves	RHOBTB3¹	Rho-related BTB domain containing 3	72.3(n) 72.52(a)		431569 XM_004949383.1 XP_004949440.1
lizard (Anolis carolinensis)	Reptilia	RHOBTB3⁶	Rho-related BTB domain containing 3	75(a)	1 ↔ 1	2(25968458-26010080)
tropical clawed frog (Xenopus tropicalis)	Amphibia	rhobtb3¹	Rho-related BTB domain containing 3	63.1(n) 56.86(a)		100485375 XM_002933441.2 XP_002933487.2
zebrafish (Danio rerio)	Actinopterygii	si:dkey-6b12.5¹	si:dkey-6b12.5	54.05(n) 49.16(a)		562804 XM_686178.6 XP_691270.6

ENSEMBL Gene Tree for RHOBTB3 (if available)
TreeFam Gene Tree for RHOBTB3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RHOBTB3 gene

1 SIMAP similar gene for RHOBTB3 using alignment to 10 protein entries: RHBT3_HUMAN (see all proteins):

BTBD9

RHOBTB3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141051942^1,2	C	untested¹	95091233(+)	`AAGATC/TGTTCT`	2	I	syn¹		0	--	--	--	--
rs189599488^1,2		--	95064851(+)	`TGCCTA/GTGGAG`	1	--	us2k¹		0	--	--	--	--
rs142639286^1,2	C	--	95064854(+)	`CTATGA/GAGTAG`	1	--	us2k¹		0	--	--	--	--
rs180856024^1,2		--	95065235(+)	`GTACAC/TGCTCT`	1	--	us2k¹		0	--	--	--	--
rs185310165^1,2	C	--	95065293(+)	`AGTACA/GAACTA`	1	--	us2k¹		0	--	--	--	--
rs150986923^1,2		--	95065321(+)	`ACAGAC/TCTCTG`	1	--	us2k¹		0	--	--	--	--
rs141272359^1,2	C	--	95065374(+)	`ACAACA/GCCCCC`	1	--	us2k¹		0	--	--	--	--
rs190071099^1,2		--	95065379(+)	`GCCCCC/GTTTTC`	1	--	us2k¹		0	--	--	--	--
rs183450937^1,2		--	95065653(+)	`TTTCCA/GGAAAA`	1	--	us2k¹		0	--	--	--	--
rs145066143^1,2	C	--	95065744(+)	`TTCTAC/GAGACT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RHOBTB3 (95049226 - 95160087 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for RHOBTB3: About this table

Variant ID	Type	Subtype	PubMed ID
nsv830409	CNV	Gain	17160897

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing RHOBTB3

DNA2.0 Custom Variant and Variant Library Synthesis for RHOBTB3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607353 OMIM disorders: --

1 disease for RHOBTB3:
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atherosclerosis

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Genetic Association Database (GAD): RHOBTB3
Human Genome Epidemiology (HuGE) Navigator: RHOBTB3 (1 document)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RHOBTB3 gene, integrated from 10 sources (see all 30):
(articles sorted by number of sources associating them with RHOBTB3)

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Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)^{1, 4} Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport. (PubMed id 19490898)^{1, 2} Espinosa E.J.... Pfeffer S.R. (Cell 2009)
Evolution of the Rho family of ras-like GTPases in eukaryotes. (PubMed id 17035353)^{1, 3} Boureux A....Fort P. (Mol. Biol. Evol. 2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse. (PubMed id 12426103)^{1, 2} Ramos S.... Rivero F. (Gene 2002)
The Dictyostelium discoideum family of Rho-related proteins. (PubMed id 11222756)^{1, 3} Rivero F....Noegel A.A. (Nucleic Acids Res. 2001)
Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)^{1, 2} Nagase T.... Ohara O. (DNA Res. 1998)
Golgi-associated RhoBTB3 targets cyclin E for ubiquitylation and promotes cell cycle progression. (PubMed id 24145166)¹ Lu A. and Pfeffer S.R. (J. Cell Biol. 2013)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 22836	HGNC: 18757	AceView: RHOBTB3	Ensembl:ENSG00000164292	euGenes: HUgn22836
ECgene: RHOBTB3	H-InvDB: RHOBTB3

(According to HUGE)
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HUGE: KIAA0878

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RHOBTB3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RHOBTB3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RHOBTB3 gene:
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RHOBTB3 Gene

Rho-Related BTB Domain Containing 3

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RHOBTB3 Gene

Rho-Related BTB Domain Containing 3

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