Reviewed,
UniProtKB/Swiss-Prot O95199 (RCBT2_HUMAN)
Last modified
November 25, 2008.
Version 61.
History...
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: RCC1 and BTB domain-containing protein 2 Alternative name(s): Regulator of chromosome condensation and BTB domain-containing protein 2 Chromosome condensation 1-like Short name=CHC1-L RCC1-like G exchanging factor | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 551 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Sequence similarities | Contains 2 BTB (POZ) domains. Contains 6 RCC1 repeats. |
Ontologies
Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
Gene Ontology (GO) | |
| Molecular function | Ran guanyl-nucleotide exchange factor activity Ref.1 Traceable author statement. Source: ProtInc protein bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95199-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O95199-2) The sequence of this isoform differs from the canonical sequence as follows: 1-24: Missing. | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 551 | 551 | RCC1 and BTB domain-containing protein 2 | PRO_0000206644 | |||||
Regions | |||||||||
| Repeat | 64 – 115 | 52 | RCC1 1 | ||||||
| Repeat | 117 – 169 | 53 | RCC1 2 | ||||||
| Repeat | 171 – 222 | 52 | RCC1 3 | ||||||
| Repeat | 223 – 274 | 52 | RCC1 4 | ||||||
| Repeat | 276 – 326 | 51 | RCC1 5 | ||||||
| Repeat | 328 – 382 | 55 | RCC1 6 | ||||||
| Domain | 394 – 457 | 64 | BTB 1 | ||||||
| Domain | 489 – 519 | 31 | BTB 2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 24 | 24 | Missing in isoform 2. | VSP_016723 | |||||
| Natural variant | 263 | 1 | A → T | VAR_024758 | |||||
| Natural variant | 515 | 1 | C → S | VAR_024759 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor." Devilder M.-C., Cadoret E., Cherel M., Moreau I., Rondeau G., Bezieau S., Moisan J.-P. Genomics 54:99-106(1998) [PubMed: 9806834] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY. |
| [2] | "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Rieder M.J., Livingston R.J., Daniels M.R., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A. Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-263 AND SER-515. |
| [3] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF060219 mRNA. Translation: AAC79987.1. AY341245 Genomic DNA. Translation: AAP88928.1. AL157813 Genomic DNA. Translation: CAH70795.1. BC029052 mRNA. Translation: AAH29052.1. | |
| PIR | T50663. |
| RefSeq | NP_001259.1. |
| UniGene | Hs.657385 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1JTD based on UniProtKB O87916. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O95199. |
Polymorphism databases | |
| NIEHS-SNPs | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000136161. Homo sapiens. [Contig view] |
| GeneID | 1102. |
| KEGG | hsa:1102. |
Organism-specific databases | |
| HGNC | HGNC:1914. RCBTB2. |
| MIM | 603524. gene. |
| PharmGKB | PA26450. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | O95199. |
Gene expression databases | |
| ArrayExpress | O95199. |
| CleanEx | HS_RCBTB2. |
| GermOnline | ENSG00000136161. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR000408. Reg_chr_condens. IPR009091. Reg_csome_cond/b-lactamase_inh. [Graphical view] |
| Gene3D | G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. G3DSA:2.130.10.30. Reg_csome_cond/b-lactamase_inh. 1 hit. |
| Pfam | PF00651. BTB. 2 hits. PF00415. RCC1. 4 hits. [Graphical view] |
| PRINTS | PR00633. RCCNDNSATION. |
| SMART | SM00225. BTB. 1 hit. [Graphical view] |
| PROSITE | PS50097. BTB. 1 hit. PS00625. RCC1_1. False negative. PS00626. RCC1_2. 1 hit. PS50012. RCC1_3. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | O95199. |
| NextBio | 4558. |
| SOURCE | Search... |
Entry information
| Entry name | RCBT2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95199 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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