Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95199

- RCBT2_HUMAN

UniProt

O95199 - RCBT2_HUMAN

Protein

RCC1 and BTB domain-containing protein 2

Gene

RCBTB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    GO - Molecular functioni

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

    GO - Biological processi

    1. positive regulation of Ran GTPase activity Source: GOC

    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

    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. 3 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.
    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. 1 PublicationVSP_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. 3 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

    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: October 1, 2014
    This is version 110 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