Reviewed, UniProtKB/Swiss-Prot O95199 (RCBT2_HUMAN)

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

Name:	RCBTB2
Synonyms:	CHC1L, RLG

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 binding Inferred 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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 0965A7FAC8143F03	FASTA	551	60,315
	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
	Isoform 2 [UniParc]. Checksum: CA61AA50A0CEEA10		527	57,769
	10 20 30 40 50 60 MLDVGKWPIF SLCSEEELQL IRQACVFGSA GNEVLYTTVN DEIFVLGTNC CGCLGLGDVQ 70 80 90 100 110 120 STIEPRRLDS LNGKKIACLS YGSGPHIVLA TTEGEVFTWG HNAYSQLGNG TTNHGLVPCH 130 140 150 160 170 180 ISTNLSNKQV IEVACGSYHS LVLTSDGEVF AWGYNNSGQV GSGSTVNQPI PRRVTGCLQN 190 200 210 220 230 240 KVVVTIACGQ MCCMAVVDTG EVYVWGYNGN GQLGLGNSGN QPTPCRVAAL QGIRVQRVAC 250 260 270 280 290 300 GYAHTLVLTD EGQVYAWGAN SYGQLGTGNK SNQSYPTPVT VEKDRIIEIA ACHSTHTSAA 310 320 330 340 350 360 KTQGGHVYMW GQCRGQSVIL PHLTHFSCTD DVFACFATPA VTWRLLSVEP DDHLTVAESL 370 380 390 400 410 420 KREFDNPDTA DLKFLVDGKY IYAHKVLLKI RCEHFRSSLE DNEDDIVEMS EFSYPVYRAF 430 440 450 460 470 480 LEYLYTDSIS LSPEEAVGLL DLATFYRENR LKKLCQQTIK QGICEENAIA LLSAAVKYDA 490 500 510 520 QDLEEFCFRF CINHLTVVTQ TSGFAEMDHD LLKNFISKAS RVGAFKN

References

	« Hide 'large scale' referencesShow '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. , 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: 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
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
Last sequence update:	May 1, 1999
Last modified:	November 25, 2008
This is version 61 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)