• Gene id: 55213

Gene Summary

• Gene Symbol: RCBTB1   Gene   UCSC   Ensembl
• Aliases: CLLD7, CLLL7, GLP, RDEOA
• Gene name: RCC1 and BTB domain containing protein 1
• Alternate names: RCC1 and BTB domain-containing protein 1, CLL deletion region gene 7 protein, GDP/GTP exchange factor (GEF)-like protein, chronic lymphocytic leukemia deletion region gene 7 protein, regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing ,
• Gene location: 13q14.2 (49585586: 49531943)     Exons: 18     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of
• OMIM: 607867

Protein Summary

• Protein general information: Q8NDN9  
  • Name: RCC1 and BTB domain containing protein 1 (Chronic lymphocytic leukemia deletion region gene 7 protein) (CLL deletion region gene 7 protein) (Regulator of chromosome condensation and BTB domain containing protein 1)
  • Length: 531  
  • Mass: 58252
  • Tissue specificity: Ubiquitously expressed (PubMed
• Sequence:

  MVDVGKWPIFTLLSPQEIASIRKACVFGTSASEALYVTDNDEVFVFGLNYSNCLGTGDNQSTLVPKKLEGLCGKK
  IKSLSYGSGPHVLLSTEDGVVYAWGHNGYSQLGNGTTNQGIAPVQVCTNLLIKQVVEVACGSHHSMALAADGEVF
  AWGYNNCGQVGSGSTANQPTPRKVTNCLHIKRVVGIACGQTSSMAVLDNGEVYGWGYNGNGQLGLGNNGNQLTPV
  RVAALHSVCVNQIVCGYAHTLALTDEGLLYAWGANTYGQLGTGNKNNLLSPAHIMVEKERVVEIAACHSAHTSAA
  KTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFACFATPAVSWRLLSVEHEDFLTVAESLKKEFDSPETADLKFR
  IDGKYIHVHKAVLKIRCEHFRSMFQSYWNEDMKEVIEIDQFSYPVYRAFLQYLYTDTVDLPPEDAIGLLDLATSY
  CENRLKKLCQHIIKRGITVENAFSLFSAAVRYDAEDLEEFCFKFCINHLTEVTQTAAFWQMDGPLLKEFIAKASK
  CGAFKN

• Structural information:
  • Protein Domains: (370..43-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (470..49-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR009091  IPR000408  IPR011333  
  • Prosite: PS50097 PS00626 PS50012
  • STRING: ENSP00000367552
• Other Databases: GeneCards:  RCBTB1  Malacards:  RCBTB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Retinal dystrophy with or without extraocular anomalies	KEGG:H02289
Retinal dystrophy with or without extraocular anomalies	KEGG:H02289
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)