• Gene id: 22836

Gene Summary

• Gene Symbol: RHOBTB3   Gene   UCSC   Ensembl
• Gene name: Rho related BTB domain containing 3
• Alternate names: rho-related BTB domain-containing protein 3,
• Gene location: 5q15 (95713521: 95796360)     Exons: 14     NC_000005.10
• Gene summary(Entrez): 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]
• OMIM: 607353

Protein Summary

• Protein general information: O94955  
  • Name: Rho related BTB domain containing protein 3 (EC 3.6.1. )
  • Length: 611  
  • Mass: 69413
  • Tissue specificity: Ubiquitous. Highly expressed in neural and cardiac tissues, pancreas, placenta and testis. {ECO
• Sequence:

  MSIHIVALGNEGDTFHQDNRPSGLIRTYLGRSPLVSGDESSLLLNAASTVARPVFTEYQASAFGNVKLVVHDCPV
  WDIFDSDWYTSRNLIGGADIIVIKYNVNDKFSFHEVKDNYIPVIKRALNSVPVIIAAVGTRQNEELPCTCPLCTS
  DRGSCVSTTEGIQLAKELGATYLELHSLDDFYIGKYFGGVLEYFMIQALNQKTSEKMKKRKMSNSFHGIRPPQLE
  QPEKMPVLKAEASHYNSDLNNLLFCCQCVDVVFYNPNLKKVVEAHKIVLCAVSHVFMLLFNVKSPTDIQDSSIIR
  TTQDLFAINRDTAFPGASHESSGNPPLRVIVKDALFCSCLSDILRFIYSGAFQWEELEEDIRKKLKDSGDVSNVI
  EKVKCILKTPGKINCLRNCKTYQARKPLWFYNTSLKFFLNKPMLADVVFEIQGTTVPAHRAILVARCEVMAAMFN
  GNYMEAKSVLIPVYGVSKETFLSFLEYLYTDSCCPAGIFQAMCLLICAEMYQVSRLQHICELFIITQLQSMPSRE
  LASMNLDIVDLLKKAKFHHSDCLSTWLLHFIATNYLIFSQKPEFQDLSVEERSFVEKHRWPSNMYLKQLAEYRKY
  IHSRKCRCLVM

• Structural information:
  • Protein Domains: (254..35-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (420..48-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR027417  IPR031260  IPR011333  IPR001806  
  • Prosite: PS50097
  • STRING: ENSP00000369318
• Other Databases: GeneCards:  RHOBTB3  Malacards:  RHOBTB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007163	establishment or maintenance of cell polarity	IBA	biological process
GO:0008045	motor neuron axon guidance	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0042995	cell projection	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0043652	engulfment of apoptotic cell	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0005938	cell cortex	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0030865	cortical cytoskeleton organization	IBA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016887	ATPase activity	TAS	molecular function
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)