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RCC1 and BTB domain-containing protein 2 (Chromosome condensation 1-like) (CHC1-L) (RCC1-like G exchanging factor) (Regulator of chromosome condensation and BTB domain-containing protein 2)

 RCBT2_HUMAN             Reviewed;         551 AA.
O95199; B2RDW8;
20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
28-MAR-2018, entry version 141.
RecName: Full=RCC1 and BTB domain-containing protein 2;
AltName: Full=Chromosome condensation 1-like;
Short=CHC1-L;
AltName: Full=RCC1-like G exchanging factor;
AltName: Full=Regulator of chromosome condensation and BTB domain-containing protein 2;
Name=RCBTB2; Synonyms=CHC1L, RLG;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
PubMed=9806834; DOI=10.1006/geno.1998.5498;
Devilder M.-C., Cadoret E., Cherel M., Moreau I., Rondeau G.,
Bezieau S., Moisan J.-P.;
"cDNA cloning, gene characterization and 13q14.3 chromosomal
assignment of CHC1-L, a chromosome condensation regulator-like guanine
nucleotide exchange factor.";
Genomics 54:99-106(1998).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-263 AND SER-515.
NIEHS SNPs program;
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057823; DOI=10.1038/nature02379;
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.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- INTERACTION:
O95363:FARS2; NbExp=7; IntAct=EBI-742404, EBI-2513774;
P38340:TAE1 (xeno); NbExp=3; IntAct=EBI-742404, EBI-21116;
Q7KZS0:UBE2I; NbExp=3; IntAct=EBI-742404, EBI-10180829;
-!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle,
acrosome {ECO:0000250|UniProtKB:Q99LJ7}. Note=Mainly found in the
acrosomal cap region. {ECO:0000250|UniProtKB:Q99LJ7}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O95199-1; Sequence=Displayed;
Name=2;
IsoId=O95199-2; Sequence=VSP_016723;
Note=No experimental confirmation available.;
-!- DOMAIN: The BTB domain might play a role in targeting to acrosomal
vesicles. {ECO:0000250|UniProtKB:Q99LJ7}.
-!- WEB RESOURCE: Name=NIEHS-SNPs;
URL="http://egp.gs.washington.edu/data/chc1l/";
-----------------------------------------------------------------------
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EMBL; AF060219; AAC79987.1; -; mRNA.
EMBL; AY341245; AAP88928.1; -; Genomic_DNA.
EMBL; AK315703; BAG38065.1; -; mRNA.
EMBL; AL157813; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471075; EAX08799.1; -; Genomic_DNA.
EMBL; BC029052; AAH29052.1; -; mRNA.
CCDS; CCDS73571.1; -. [O95199-2]
CCDS; CCDS9411.1; -. [O95199-1]
PIR; T50663; T50663.
RefSeq; NP_001259.1; NM_001268.3. [O95199-1]
RefSeq; NP_001273759.1; NM_001286830.1.
RefSeq; NP_001273760.1; NM_001286831.1. [O95199-2]
RefSeq; NP_001273761.1; NM_001286832.1.
RefSeq; XP_005266299.1; XM_005266242.2.
RefSeq; XP_005266301.1; XM_005266244.2.
RefSeq; XP_006719822.1; XM_006719759.3.
UniGene; Hs.652712; -.
ProteinModelPortal; O95199; -.
SMR; O95199; -.
BioGrid; 107527; 23.
IntAct; O95199; 9.
STRING; 9606.ENSP00000345144; -.
iPTMnet; O95199; -.
PhosphoSitePlus; O95199; -.
EPD; O95199; -.
MaxQB; O95199; -.
PaxDb; O95199; -.
PeptideAtlas; O95199; -.
PRIDE; O95199; -.
DNASU; 1102; -.
Ensembl; ENST00000344532; ENSP00000345144; ENSG00000136161. [O95199-1]
Ensembl; ENST00000544904; ENSP00000443904; ENSG00000136161. [O95199-2]
GeneID; 1102; -.
KEGG; hsa:1102; -.
UCSC; uc001vch.5; human. [O95199-1]
CTD; 1102; -.
DisGeNET; 1102; -.
EuPathDB; HostDB:ENSG00000136161.12; -.
GeneCards; RCBTB2; -.
HGNC; HGNC:1914; RCBTB2.
HPA; HPA040242; -.
MIM; 603524; gene.
neXtProt; NX_O95199; -.
OpenTargets; ENSG00000136161; -.
PharmGKB; PA26450; -.
eggNOG; KOG1426; Eukaryota.
eggNOG; COG5184; LUCA.
GeneTree; ENSGT00910000144029; -.
HOVERGEN; HBG053261; -.
InParanoid; O95199; -.
KO; K11494; -.
PhylomeDB; O95199; -.
TreeFam; TF329478; -.
ChiTaRS; RCBTB2; human.
GeneWiki; RCBTB2; -.
GenomeRNAi; 1102; -.
PRO; PR:O95199; -.
Proteomes; UP000005640; Chromosome 13.
Bgee; ENSG00000136161; -.
CleanEx; HS_RCBTB2; -.
ExpressionAtlas; O95199; baseline and differential.
Genevisible; O95199; HS.
GO; GO:0005087; F:Ran guanyl-nucleotide exchange factor activity; TAS:ProtInc.
Gene3D; 2.130.10.30; -; 2.
InterPro; IPR000210; BTB/POZ_dom.
InterPro; IPR009091; RCC1/BLIP-II.
InterPro; IPR000408; Reg_chr_condens.
InterPro; IPR011333; SKP1/BTB/POZ_sf.
Pfam; PF00651; BTB; 1.
Pfam; PF00415; RCC1; 4.
PRINTS; PR00633; RCCNDNSATION.
SMART; SM00225; BTB; 1.
SUPFAM; SSF50985; SSF50985; 1.
SUPFAM; SSF54695; SSF54695; 1.
PROSITE; PS50097; BTB; 1.
PROSITE; PS00626; RCC1_2; 1.
PROSITE; PS50012; RCC1_3; 4.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Cytoplasmic vesicle;
Polymorphism; Reference proteome; Repeat.
CHAIN 1 551 RCC1 and BTB domain-containing protein 2.
/FTId=PRO_0000206644.
REPEAT 64 115 RCC1 1. {ECO:0000255}.
REPEAT 117 169 RCC1 2. {ECO:0000255}.
REPEAT 171 222 RCC1 3. {ECO:0000255}.
REPEAT 223 274 RCC1 4. {ECO:0000255}.
REPEAT 276 326 RCC1 5. {ECO:0000255}.
REPEAT 328 382 RCC1 6. {ECO:0000255}.
DOMAIN 394 457 BTB. {ECO:0000255|PROSITE-
ProRule:PRU00037}.
VAR_SEQ 1 24 Missing (in isoform 2).
{ECO:0000303|PubMed:9806834}.
/FTId=VSP_016723.
VARIANT 263 263 A -> T (in dbSNP:rs9332000).
{ECO:0000269|Ref.2}.
/FTId=VAR_024758.
VARIANT 515 515 C -> S (in dbSNP:rs9332075).
{ECO:0000269|Ref.2}.
/FTId=VAR_024759.
SEQUENCE 551 AA; 60315 MW; 0965A7FAC8143F03 CRC64;
MEEELPLFSG DSGKPVQATL SSLKMLDVGK WPIFSLCSEE ELQLIRQACV FGSAGNEVLY
TTVNDEIFVL GTNCCGCLGL GDVQSTIEPR RLDSLNGKKI ACLSYGSGPH IVLATTEGEV
FTWGHNAYSQ LGNGTTNHGL VPCHISTNLS NKQVIEVACG SYHSLVLTSD GEVFAWGYNN
SGQVGSGSTV NQPIPRRVTG CLQNKVVVTI ACGQMCCMAV VDTGEVYVWG YNGNGQLGLG
NSGNQPTPCR VAALQGIRVQ RVACGYAHTL VLTDEGQVYA WGANSYGQLG TGNKSNQSYP
TPVTVEKDRI IEIAACHSTH TSAAKTQGGH VYMWGQCRGQ SVILPHLTHF SCTDDVFACF
ATPAVTWRLL SVEPDDHLTV AESLKREFDN PDTADLKFLV DGKYIYAHKV LLKIRCEHFR
SSLEDNEDDI VEMSEFSYPV YRAFLEYLYT DSISLSPEEA VGLLDLATFY RENRLKKLCQ
QTIKQGICEE NAIALLSAAV KYDAQDLEEF CFRFCINHLT VVTQTSGFAE MDHDLLKNFI
SKASRVGAFK N


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