• Gene id: 9886

Gene Summary

• Gene Symbol: RHOBTB1   Gene   UCSC   Ensembl
• Gene name: Rho related BTB domain containing 1
• Alternate names: rho-related BTB domain-containing protein 1,
• Gene location: 10q21.2 (61001485: 60869437)     Exons: 21     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The p
• OMIM: 607351

Protein Summary

• Protein general information: O94844  
  • Name: Rho related BTB domain containing protein 1
  • Length: 696  
  • Mass: 79417
  • Tissue specificity: Ubiquitous, with highest levels in skeletal muscle, placenta, testis, stomach, and kidney, followed by uterus and adrenal gland. Expressed in a variety of fetal tissues. {ECO
• Sequence:

  MDADMDYERPNVETIKCVVVGDNAVGKTRLICARACNTTLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDE
  VSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLNHVKSMWYPEIKHFCPRTPVILVGCQLDLRYADLE
  AVNRARRPLARPIKRGDILPPEKGREVAKELGLPYYETSVFDQFGIKDVFDNAIRAALISRRHLQFWKSHLKKVQ
  KPLLQAPFLPPKAPPPVIKIPECPSMGTNEAACLLDNPLCADVLFILQDQEHIFAHRIYLATSSSKFYDLFLMEC
  EESPNGSEGACEKEKQSRDFQGRILSVDPEEEREEGPPRIPQADQWKSSNKSLVEALGLEAEGAVPETQTLTGWS
  KGFIGMHREMQVNPISKRMGPMTVVRMDASVQPGPFRTLLQFLYTGQLDEKEKDLVGLAQIAEVLEMFDLRMMVE
  NIMNKEAFMNQEITKAFHVRKANRIKECLSKGTFSDVTFKLDDGAISAHKPLLICSCEWMAAMFGGSFVESANSE
  VYLPNINKISMQAVLDYLYTKQLSPNLDLDPLELIALANRFCLPHLVALAEQHAVQELTKAATSGVGIDGEVLSY
  LELAQFHNAHQLAAWCLHHICTNYNSVCSKFRKEIKSKSADNQEYFERHRWPPVWYLKEEDHYQRVKREREKEDI
  ALNKHRSRRKWCFWNSSPAVA

• Structural information:
  • Protein Domains: (266..42-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (485..55-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR027417  IPR011333  IPR001806  IPR003578  
  • Prosite: PS50097 PS51420
  • STRING: ENSP00000338671
• Other Databases: GeneCards:  RHOBTB1  Malacards:  RHOBTB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray