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Protein

RCC1 and BTB domain-containing protein 2

Gene

RCBTB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. Ran guanyl-nucleotide exchange factor activity Source: ProtInc

GO - Biological processi

  1. positive regulation of GTPase activity Source: GOC
Complete GO annotation...

Names & Taxonomyi

Protein namesi
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 namesi
Name:RCBTB2
Synonyms:CHC1L, RLG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:1914. RCBTB2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26450.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 551551RCC1 and BTB domain-containing protein 2PRO_0000206644Add
BLAST

Proteomic databases

MaxQBiO95199.
PaxDbiO95199.
PRIDEiO95199.

PTM databases

PhosphoSiteiO95199.

Expressioni

Gene expression databases

BgeeiO95199.
CleanExiHS_RCBTB2.
ExpressionAtlasiO95199. baseline and differential.
GenevestigatoriO95199.

Organism-specific databases

HPAiHPA040242.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FARS2O953633EBI-742404,EBI-2513774
UBE2IQ7KZS03EBI-742404,EBI-10180829

Protein-protein interaction databases

BioGridi107527. 12 interactions.
IntActiO95199. 5 interactions.
MINTiMINT-1481780.
STRINGi9606.ENSP00000345144.

Structurei

3D structure databases

ProteinModelPortaliO95199.
SMRiO95199. Positions 42-338, 374-531.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati64 – 11552RCC1 1Add
BLAST
Repeati117 – 16953RCC1 2Add
BLAST
Repeati171 – 22252RCC1 3Add
BLAST
Repeati223 – 27452RCC1 4Add
BLAST
Repeati276 – 32651RCC1 5Add
BLAST
Repeati328 – 38255RCC1 6Add
BLAST
Domaini394 – 45764BTB 1PROSITE-ProRule annotationAdd
BLAST
Domaini489 – 51931BTB 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation
Contains 6 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5184.
GeneTreeiENSGT00780000121841.
HOVERGENiHBG053261.
InParanoidiO95199.
KOiK11494.
OrthoDBiEOG7HTHGW.
PhylomeDBiO95199.
TreeFamiTF329478.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95199-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEEELPLFSG DSGKPVQATL SSLKMLDVGK WPIFSLCSEE ELQLIRQACV
60 70 80 90 100
FGSAGNEVLY TTVNDEIFVL GTNCCGCLGL GDVQSTIEPR RLDSLNGKKI
110 120 130 140 150
ACLSYGSGPH IVLATTEGEV FTWGHNAYSQ LGNGTTNHGL VPCHISTNLS
160 170 180 190 200
NKQVIEVACG SYHSLVLTSD GEVFAWGYNN SGQVGSGSTV NQPIPRRVTG
210 220 230 240 250
CLQNKVVVTI ACGQMCCMAV VDTGEVYVWG YNGNGQLGLG NSGNQPTPCR
260 270 280 290 300
VAALQGIRVQ RVACGYAHTL VLTDEGQVYA WGANSYGQLG TGNKSNQSYP
310 320 330 340 350
TPVTVEKDRI IEIAACHSTH TSAAKTQGGH VYMWGQCRGQ SVILPHLTHF
360 370 380 390 400
SCTDDVFACF ATPAVTWRLL SVEPDDHLTV AESLKREFDN PDTADLKFLV
410 420 430 440 450
DGKYIYAHKV LLKIRCEHFR SSLEDNEDDI VEMSEFSYPV YRAFLEYLYT
460 470 480 490 500
DSISLSPEEA VGLLDLATFY RENRLKKLCQ QTIKQGICEE NAIALLSAAV
510 520 530 540 550
KYDAQDLEEF CFRFCINHLT VVTQTSGFAE MDHDLLKNFI SKASRVGAFK

N
Length:551
Mass (Da):60,315
Last modified:May 1, 1999 - v1
Checksum:i0965A7FAC8143F03
GO
Isoform 2 (identifier: O95199-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Note: No experimental confirmation available.

Show »
Length:527
Mass (Da):57,769
Checksum:iCA61AA50A0CEEA10
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti263 – 2631A → T.1 Publication
Corresponds to variant rs9332000 [ dbSNP | Ensembl ].
VAR_024758
Natural varianti515 – 5151C → S.1 Publication
Corresponds to variant rs9332075 [ dbSNP | Ensembl ].
VAR_024759

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2. 1 PublicationVSP_016723Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS73571.1. [O95199-2]
CCDS9411.1. [O95199-1]
PIRiT50663.
RefSeqiNP_001259.1. NM_001268.3. [O95199-1]
NP_001273759.1. NM_001286830.1.
NP_001273760.1. NM_001286831.1. [O95199-2]
NP_001273761.1. NM_001286832.1.
XP_005266299.1. XM_005266242.1. [O95199-1]
XP_005266301.1. XM_005266244.1. [O95199-2]
XP_006719822.1. XM_006719759.2. [O95199-1]
UniGeneiHs.652712.

Genome annotation databases

EnsembliENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
ENST00000544904; ENSP00000443904; ENSG00000136161. [O95199-2]
GeneIDi1102.
KEGGihsa:1102.
UCSCiuc001vch.3. human. [O95199-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS73571.1. [O95199-2]
CCDS9411.1. [O95199-1]
PIRiT50663.
RefSeqiNP_001259.1. NM_001268.3. [O95199-1]
NP_001273759.1. NM_001286830.1.
NP_001273760.1. NM_001286831.1. [O95199-2]
NP_001273761.1. NM_001286832.1.
XP_005266299.1. XM_005266242.1. [O95199-1]
XP_005266301.1. XM_005266244.1. [O95199-2]
XP_006719822.1. XM_006719759.2. [O95199-1]
UniGeneiHs.652712.

3D structure databases

ProteinModelPortaliO95199.
SMRiO95199. Positions 42-338, 374-531.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107527. 12 interactions.
IntActiO95199. 5 interactions.
MINTiMINT-1481780.
STRINGi9606.ENSP00000345144.

PTM databases

PhosphoSiteiO95199.

Proteomic databases

MaxQBiO95199.
PaxDbiO95199.
PRIDEiO95199.

Protocols and materials databases

DNASUi1102.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
ENST00000544904; ENSP00000443904; ENSG00000136161. [O95199-2]
GeneIDi1102.
KEGGihsa:1102.
UCSCiuc001vch.3. human. [O95199-1]

Organism-specific databases

CTDi1102.
GeneCardsiGC13M049063.
HGNCiHGNC:1914. RCBTB2.
HPAiHPA040242.
MIMi603524. gene.
neXtProtiNX_O95199.
PharmGKBiPA26450.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5184.
GeneTreeiENSGT00780000121841.
HOVERGENiHBG053261.
InParanoidiO95199.
KOiK11494.
OrthoDBiEOG7HTHGW.
PhylomeDBiO95199.
TreeFamiTF329478.

Miscellaneous databases

ChiTaRSiRCBTB2. human.
GeneWikiiRCBTB2.
GenomeRNAii1102.
NextBioi4558.
PROiO95199.
SOURCEiSearch...

Gene expression databases

BgeeiO95199.
CleanExiHS_RCBTB2.
ExpressionAtlasiO95199. baseline and differential.
GenevestigatoriO95199.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiRCBT2_HUMAN
AccessioniPrimary (citable) accession number: O95199
Secondary accession number(s): B2RDW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: May 1, 1999
Last modified: April 29, 2015
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.