O95199 (RCBT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	551 AA.
Sequence status	Complete.
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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	Ran 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 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. Ref.2 Corresponds to variant rs9332000 [ dbSNP | Ensembl ].		VAR_024758
	Natural variant	515	1	C → S. Ref.2 Corresponds to variant rs9332075 [ dbSNP | Ensembl ].		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	FASTA	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] [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. , 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. , 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. , 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

NIEHS-SNPs

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.
IPI	IPI00658195. IPI00941277.
PIR	T50663.
RefSeq	NP_001259.1. NM_001268.2.
UniGene	Hs.652712.
3D structure databases
ProteinModelPortal	O95199.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95199. 2 interactions.
MINT	MINT-1481780.
STRING	9606.ENSP00000345144.
PTM databases
PhosphoSite	O95199.
Proteomic databases
PaxDb	O95199.
PRIDE	O95199.
Protocols and materials databases
DNASU	1102.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000344532; ENSP00000345144; ENSG00000136161.
GeneID	1102.
KEGG	hsa:1102.
UCSC	uc001vch.3. human.
Organism-specific databases
CTD	1102.
GeneCards	GC13M049063.
HGNC	HGNC:1914. RCBTB2.
HPA	HPA040242.
MIM	603524. gene.
neXtProt	NX_O95199.
PharmGKB	PA26450.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5184.
HOVERGEN	HBG053261.
InParanoid	O95199.
KO	K11494.
OrthoDB	EOG4M91R6.
PhylomeDB	O95199.
Gene expression databases
ArrayExpress	O95199.
Bgee	O95199.
CleanEx	HS_RCBTB2.
Genevestigator	O95199.
GermOnline	ENSG00000136161. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.30. 1 hit. 3.30.710.10. 1 hit.
InterPro	IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR009091. RCC1/BLIP-II. IPR000408. Reg_chr_condens. [Graphical view]
Pfam	PF00651. BTB. 1 hit. PF00415. RCC1. 4 hits. [Graphical view]
PRINTS	PR00633. RCCNDNSATION.
SMART	SM00225. BTB. 1 hit. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit. SSF50985. RCC1/BLIP-II. 1 hit.
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
ChiTaRS	RCBTB2. human.
GenomeRNAi	1102.
NextBio	4558.
SOURCE	Search...

Entry information

Entry name

RCBT2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.