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O95199 (RCBT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
RCC1 and BTB domain-containing protein 2
Alternative name(s):
Chromosome condensation 1-like
Short name=CHC1-L
RCC1-like G exchanging factor
Regulator of chromosome condensation and BTB domain-containing protein 2
Gene names
Name:RCBTB2
Synonyms:CHC1L, RLG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length551 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 2 BTB (POZ) domains.

Contains 6 RCC1 repeats.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentacrosomal vesicle

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRan guanyl-nucleotide exchange factor activity

Traceable author statement Ref.1. Source: ProtInc

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.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 551551RCC1 and BTB domain-containing protein 2
PRO_0000206644

Regions

Repeat64 – 11552RCC1 1
Repeat117 – 16953RCC1 2
Repeat171 – 22252RCC1 3
Repeat223 – 27452RCC1 4
Repeat276 – 32651RCC1 5
Repeat328 – 38255RCC1 6
Domain394 – 45764BTB 1
Domain489 – 51931BTB 2

Natural variations

Alternative sequence1 – 2424Missing in isoform 2.
VSP_016723
Natural variant2631A → T. Ref.2
Corresponds to variant rs9332000 [ dbSNP | Ensembl ].
VAR_024758
Natural variant5151C → S. Ref.2
Corresponds to variant rs9332075 [ dbSNP | Ensembl ].
VAR_024759

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 0965A7FAC8143F03

FASTA55160,315
        10         20         30         40         50         60 
MEEELPLFSG DSGKPVQATL SSLKMLDVGK WPIFSLCSEE ELQLIRQACV FGSAGNEVLY 

        70         80         90        100        110        120 
TTVNDEIFVL GTNCCGCLGL GDVQSTIEPR RLDSLNGKKI ACLSYGSGPH IVLATTEGEV 

       130        140        150        160        170        180 
FTWGHNAYSQ LGNGTTNHGL VPCHISTNLS NKQVIEVACG SYHSLVLTSD GEVFAWGYNN 

       190        200        210        220        230        240 
SGQVGSGSTV NQPIPRRVTG CLQNKVVVTI ACGQMCCMAV VDTGEVYVWG YNGNGQLGLG 

       250        260        270        280        290        300 
NSGNQPTPCR VAALQGIRVQ RVACGYAHTL VLTDEGQVYA WGANSYGQLG TGNKSNQSYP 

       310        320        330        340        350        360 
TPVTVEKDRI IEIAACHSTH TSAAKTQGGH VYMWGQCRGQ SVILPHLTHF SCTDDVFACF 

       370        380        390        400        410        420 
ATPAVTWRLL SVEPDDHLTV AESLKREFDN PDTADLKFLV DGKYIYAHKV LLKIRCEHFR 

       430        440        450        460        470        480 
SSLEDNEDDI VEMSEFSYPV YRAFLEYLYT DSISLSPEEA VGLLDLATFY RENRLKKLCQ 

       490        500        510        520        530        540 
QTIKQGICEE NAIALLSAAV KYDAQDLEEF CFRFCINHLT VVTQTSGFAE MDHDLLKNFI 

       550 
SKASRVGAFK N 

« Hide

Isoform 2 [UniParc].

Checksum: CA61AA50A0CEEA10
Show »

FASTA52757,769

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[2]NIEHS SNPs program
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-263 AND SER-515.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[4]"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. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF060219 mRNA. Translation: AAC79987.1.
AY341245 Genomic DNA. Translation: AAP88928.1.
AK315703 mRNA. Translation: BAG38065.1.
AL157813 Genomic DNA. Translation: CAH70795.1.
CH471075 Genomic DNA. Translation: EAX08799.1.
BC029052 mRNA. Translation: AAH29052.1.
PIRT50663.
RefSeqNP_001259.1. NM_001268.3.
NP_001273759.1. NM_001286830.1.
NP_001273760.1. NM_001286831.1.
NP_001273761.1. NM_001286832.1.
XP_005266299.1. XM_005266242.1.
XP_005266300.1. XM_005266243.1.
XP_005266301.1. XM_005266244.1.
UniGeneHs.652712.

3D structure databases

ProteinModelPortalO95199.
SMRO95199. Positions 8-338, 374-531.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107527. 6 interactions.
IntActO95199. 2 interactions.
MINTMINT-1481780.
STRING9606.ENSP00000345144.

PTM databases

PhosphoSiteO95199.

Proteomic databases

PaxDbO95199.
PRIDEO95199.

Protocols and materials databases

DNASU1102.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
GeneID1102.
KEGGhsa:1102.
UCSCuc001vch.3. human. [O95199-1]

Organism-specific databases

CTD1102.
GeneCardsGC13M049063.
HGNCHGNC:1914. RCBTB2.
HPAHPA040242.
MIM603524. gene.
neXtProtNX_O95199.
PharmGKBPA26450.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5184.
HOVERGENHBG053261.
InParanoidO95199.
KOK11494.
OrthoDBEOG7HTHGW.
PhylomeDBO95199.
TreeFamTF329478.

Gene expression databases

ArrayExpressO95199.
BgeeO95199.
CleanExHS_RCBTB2.
GenevestigatorO95199.

Family and domain databases

Gene3D2.130.10.30. 1 hit.
3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamPF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSPR00633. RCCNDNSATION.
SMARTSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRCBTB2. human.
GeneWikiRCBTB2.
GenomeRNAi1102.
NextBio4558.
PROO95199.
SOURCESearch...

Entry information

Entry nameRCBT2_HUMAN
AccessionPrimary (citable) accession number: O95199
Secondary accession number(s): B2RDW8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: May 1, 1999
Last modified: March 19, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM