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   27-MAR-2024, entry version 177.
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; 52.
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; 9606-ENSP00000389910; -.
DR   PeptideAtlas; O95199; -.
DR   ProteomicsDB; 50707; -. [O95199-1]
DR   ProteomicsDB; 50708; -. [O95199-2]
DR   Antibodypedia; 23851; 205 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   AGR; HGNC:1914; -.
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; NADLRFQ; -.
DR   OrthoDB; 5475808at2759; -.
DR   PhylomeDB; O95199; -.
DR   TreeFam; TF329478; -.
DR   PathwayCommons; O95199; -.
DR   SignaLink; O95199; -.
DR   BioGRID-ORCS; 1102; 15 hits in 1192 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 196 other cell types or tissues.
DR   ExpressionAtlas; O95199; baseline and differential.
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   CDD; cd18529; BACK_RCBTB2; 1.
DR   CDD; cd18354; BTB_POZ_RCBTB2_CHC1L; 1.
DR   Gene3D; 1.25.40.420; -; 1.
DR   Gene3D; 2.130.10.30; Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II; 2.
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   PANTHER; PTHR22872:SF2; BTB_POZ DOMAIN-CONTAINING PROTEIN 1; 1.
DR   PANTHER; PTHR22872; BTK-BINDING PROTEIN-RELATED; 1.
DR   Pfam; PF00651; BTB; 1.
DR   Pfam; PF00415; RCC1; 4.
DR   PRINTS; PR00633; RCCNDNSATION.
DR   SMART; SM00225; BTB; 1.
DR   SUPFAM; SSF54695; POZ domain; 1.
DR   SUPFAM; SSF50985; RCC1/BLIP-II; 1.
DR   PROSITE; PS50097; BTB; 1.
DR   PROSITE; PS00626; RCC1_2; 1.
DR   PROSITE; PS50012; RCC1_3; 4.
DR   Genevisible; O95199; HS.
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
//