RCBT2_HUMAN
ID RCBT2_HUMAN Reviewed; 551 AA.
AC O95199; B2RDW8;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=RCC1 and BTB domain-containing protein 2;
DE AltName: Full=Chromosome condensation 1-like;
DE Short=CHC1-L;
DE AltName: Full=RCC1-like G exchanging factor;
DE AltName: Full=Regulator of chromosome condensation and BTB domain-containing protein 2;
GN Name=RCBTB2; Synonyms=CHC1L, RLG;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RX PubMed=9806834; DOI=10.1006/geno.1998.5498;
RA Devilder M.-C., Cadoret E., Cherel M., Moreau I., Rondeau G., Bezieau S.,
RA Moisan J.-P.;
RT "cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of
RT CHC1-L, a chromosome condensation regulator-like guanine nucleotide
RT exchange factor.";
RL Genomics 54:99-106(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-263 AND SER-515.
RG NIEHS SNPs program;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC O95199; O95363: FARS2; NbExp=6; IntAct=EBI-742404, EBI-2513774;
CC O95199; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-742404, EBI-10288852;
CC O95199; O60733: PLA2G6; NbExp=3; IntAct=EBI-742404, EBI-12089905;
CC O95199; O75884: RBBP9; NbExp=3; IntAct=EBI-742404, EBI-11310604;
CC O95199; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-742404, EBI-10180829;
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q99LJ7}. Note=Mainly found in the acrosomal cap
CC region. {ECO:0000250|UniProtKB:Q99LJ7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O95199-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95199-2; Sequence=VSP_016723;
CC -!- DOMAIN: The BTB domain might play a role in targeting to acrosomal
CC vesicles. {ECO:0000250|UniProtKB:Q99LJ7}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/chc1l/";
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DR EMBL; AF060219; AAC79987.1; -; mRNA.
DR EMBL; AY341245; AAP88928.1; -; Genomic_DNA.
DR EMBL; AK315703; BAG38065.1; -; mRNA.
DR EMBL; AL157813; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08799.1; -; Genomic_DNA.
DR EMBL; BC029052; AAH29052.1; -; mRNA.
DR CCDS; CCDS73571.1; -. [O95199-2]
DR CCDS; CCDS9411.1; -. [O95199-1]
DR PIR; T50663; T50663.
DR RefSeq; NP_001259.1; NM_001268.3. [O95199-1]
DR RefSeq; NP_001273759.1; NM_001286830.1.
DR RefSeq; NP_001273760.1; NM_001286831.1. [O95199-2]
DR RefSeq; NP_001273761.1; NM_001286832.1.
DR RefSeq; XP_005266299.1; XM_005266242.2.
DR RefSeq; XP_005266301.1; XM_005266244.2.
DR RefSeq; XP_006719822.1; XM_006719759.3.
DR AlphaFoldDB; O95199; -.
DR SMR; O95199; -.
DR BioGRID; 107527; 29.
DR IntAct; O95199; 21.
DR STRING; 9606.ENSP00000389910; -.
DR iPTMnet; O95199; -.
DR PhosphoSitePlus; O95199; -.
DR BioMuta; RCBTB2; -.
DR EPD; O95199; -.
DR MassIVE; O95199; -.
DR MaxQB; O95199; -.
DR PaxDb; O95199; -.
DR PeptideAtlas; O95199; -.
DR PRIDE; O95199; -.
DR ProteomicsDB; 50707; -. [O95199-1]
DR ProteomicsDB; 50708; -. [O95199-2]
DR Antibodypedia; 23851; 192 antibodies from 28 providers.
DR DNASU; 1102; -.
DR Ensembl; ENST00000344532.8; ENSP00000345144.3; ENSG00000136161.13. [O95199-1]
DR Ensembl; ENST00000544904.3; ENSP00000443904.2; ENSG00000136161.13. [O95199-2]
DR GeneID; 1102; -.
DR KEGG; hsa:1102; -.
DR MANE-Select; ENST00000344532.8; ENSP00000345144.3; NM_001268.4; NP_001259.1.
DR UCSC; uc001vch.5; human. [O95199-1]
DR CTD; 1102; -.
DR DisGeNET; 1102; -.
DR GeneCards; RCBTB2; -.
DR HGNC; HGNC:1914; RCBTB2.
DR HPA; ENSG00000136161; Low tissue specificity.
DR MIM; 603524; gene.
DR neXtProt; NX_O95199; -.
DR OpenTargets; ENSG00000136161; -.
DR PharmGKB; PA26450; -.
DR VEuPathDB; HostDB:ENSG00000136161; -.
DR eggNOG; KOG1426; Eukaryota.
DR GeneTree; ENSGT00940000158925; -.
DR HOGENOM; CLU_029788_1_0_1; -.
DR InParanoid; O95199; -.
DR OMA; ATFYREM; -.
DR OrthoDB; 1062377at2759; -.
DR PhylomeDB; O95199; -.
DR TreeFam; TF329478; -.
DR PathwayCommons; O95199; -.
DR SignaLink; O95199; -.
DR BioGRID-ORCS; 1102; 15 hits in 1115 CRISPR screens.
DR ChiTaRS; RCBTB2; human.
DR GeneWiki; RCBTB2; -.
DR GenomeRNAi; 1102; -.
DR Pharos; O95199; Tbio.
DR PRO; PR:O95199; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O95199; protein.
DR Bgee; ENSG00000136161; Expressed in secondary oocyte and 194 other tissues.
DR ExpressionAtlas; O95199; baseline and differential.
DR Genevisible; O95199; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:ProtInc.
DR Gene3D; 2.130.10.30; -; 2.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR009091; RCC1/BLIP-II.
DR InterPro; IPR000408; Reg_chr_condens.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF00415; RCC1; 4.
DR PRINTS; PR00633; RCCNDNSATION.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF50985; SSF50985; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
DR PROSITE; PS00626; RCC1_2; 1.
DR PROSITE; PS50012; RCC1_3; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Reference proteome; Repeat.
FT CHAIN 1..551
FT /note="RCC1 and BTB domain-containing protein 2"
FT /id="PRO_0000206644"
FT REPEAT 64..115
FT /note="RCC1 1"
FT /evidence="ECO:0000255"
FT REPEAT 117..169
FT /note="RCC1 2"
FT /evidence="ECO:0000255"
FT REPEAT 171..222
FT /note="RCC1 3"
FT /evidence="ECO:0000255"
FT REPEAT 223..274
FT /note="RCC1 4"
FT /evidence="ECO:0000255"
FT REPEAT 276..326
FT /note="RCC1 5"
FT /evidence="ECO:0000255"
FT REPEAT 328..382
FT /note="RCC1 6"
FT /evidence="ECO:0000255"
FT DOMAIN 394..457
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT VAR_SEQ 1..24
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9806834"
FT /id="VSP_016723"
FT VARIANT 263
FT /note="A -> T (in dbSNP:rs9332000)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_024758"
FT VARIANT 515
FT /note="C -> S (in dbSNP:rs9332075)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_024759"
SQ 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
