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O95199

- RCBT2_HUMAN

UniProt

O95199 - RCBT2_HUMAN

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Protein

RCC1 and BTB domain-containing protein 2

Gene
RCBTB2, CHC1L, RLG
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

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

GO - Biological processi

  1. regulation of Ran 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: Chromosome 13

Organism-specific databases

HGNCiHGNC:1914. RCBTB2.

Subcellular locationi

GO - Cellular componenti

  1. acrosomal vesicle Source: Ensembl
Complete GO annotation...

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

ArrayExpressiO95199.
BgeeiO95199.
CleanExiHS_RCBTB2.
GenevestigatoriO95199.

Organism-specific databases

HPAiHPA040242.

Interactioni

Protein-protein interaction databases

BioGridi107527. 6 interactions.
IntActiO95199. 2 interactions.
MINTiMINT-1481780.
STRINGi9606.ENSP00000345144.

Structurei

3D structure databases

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

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 1Add
BLAST
Domaini489 – 51931BTB 2Add
BLAST

Sequence similaritiesi

Contains 2 BTB (POZ) domains.
Contains 6 RCC1 repeats.

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
3.30.710.10. 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. Align

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

MEEELPLFSG DSGKPVQATL SSLKMLDVGK WPIFSLCSEE ELQLIRQACV    50
FGSAGNEVLY TTVNDEIFVL GTNCCGCLGL GDVQSTIEPR RLDSLNGKKI 100
ACLSYGSGPH IVLATTEGEV FTWGHNAYSQ LGNGTTNHGL VPCHISTNLS 150
NKQVIEVACG SYHSLVLTSD GEVFAWGYNN SGQVGSGSTV NQPIPRRVTG 200
CLQNKVVVTI ACGQMCCMAV VDTGEVYVWG YNGNGQLGLG NSGNQPTPCR 250
VAALQGIRVQ RVACGYAHTL VLTDEGQVYA WGANSYGQLG TGNKSNQSYP 300
TPVTVEKDRI IEIAACHSTH TSAAKTQGGH VYMWGQCRGQ SVILPHLTHF 350
SCTDDVFACF ATPAVTWRLL SVEPDDHLTV AESLKREFDN PDTADLKFLV 400
DGKYIYAHKV LLKIRCEHFR SSLEDNEDDI VEMSEFSYPV YRAFLEYLYT 450
DSISLSPEEA VGLLDLATFY RENRLKKLCQ QTIKQGICEE NAIALLSAAV 500
KYDAQDLEEF CFRFCINHLT VVTQTSGFAE MDHDLLKNFI SKASRVGAFK 550
N 551
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. VSP_016723Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS9411.1. [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_006719759.1. [O95199-1]
UniGeneiHs.652712.

Genome annotation databases

EnsembliENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9411.1. [O95199-1 ]
PIRi T50663.
RefSeqi NP_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_006719759.1. [O95199-1 ]
UniGenei Hs.652712.

3D structure databases

ProteinModelPortali O95199.
SMRi O95199. Positions 42-338, 374-531.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107527. 6 interactions.
IntActi O95199. 2 interactions.
MINTi MINT-1481780.
STRINGi 9606.ENSP00000345144.

PTM databases

PhosphoSitei O95199.

Proteomic databases

MaxQBi O95199.
PaxDbi O95199.
PRIDEi O95199.

Protocols and materials databases

DNASUi 1102.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344532 ; ENSP00000345144 ; ENSG00000136161 . [O95199-1 ]
GeneIDi 1102.
KEGGi hsa:1102.
UCSCi uc001vch.3. human. [O95199-1 ]

Organism-specific databases

CTDi 1102.
GeneCardsi GC13M049063.
HGNCi HGNC:1914. RCBTB2.
HPAi HPA040242.
MIMi 603524. gene.
neXtProti NX_O95199.
PharmGKBi PA26450.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5184.
HOVERGENi HBG053261.
InParanoidi O95199.
KOi K11494.
OrthoDBi EOG7HTHGW.
PhylomeDBi O95199.
TreeFami TF329478.

Miscellaneous databases

ChiTaRSi RCBTB2. human.
GeneWikii RCBTB2.
GenomeRNAii 1102.
NextBioi 4558.
PROi O95199.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95199.
Bgeei O95199.
CleanExi HS_RCBTB2.
Genevestigatori O95199.

Family and domain databases

Gene3Di 2.130.10.30. 1 hit.
3.30.710.10. 1 hit.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view ]
Pfami PF00651. BTB. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view ]
PRINTSi PR00633. RCCNDNSATION.
SMARTi SM00225. BTB. 1 hit.
[Graphical view ]
SUPFAMi SSF50985. SSF50985. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
PS00626. RCC1_2. 1 hit.
PS50012. RCC1_3. 4 hits.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 109 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

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