RCBT1_HUMAN
ID RCBT1_HUMAN Reviewed; 531 AA.
AC Q8NDN9; Q8IY29; Q969U9;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=RCC1 and BTB domain-containing protein 1;
DE AltName: Full=Chronic lymphocytic leukemia deletion region gene 7 protein;
DE Short=CLL deletion region gene 7 protein;
DE AltName: Full=Regulator of chromosome condensation and BTB domain-containing protein 1;
GN Name=RCBTB1; Synonyms=CLLD7, E4.5;
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] (ISOFORM 1), VARIANTS VAL-24 AND ILE-500, TISSUE
RP SPECIFICITY, AND FUNCTION.
RX PubMed=11306461;
RA Mabuchi H., Fujii H., Calin G., Alder H., Negrini M., Rassenti L.,
RA Kipps T.J., Bullrich F., Croce C.M.;
RT "Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate
RT genes for leukemogenesis at chromosome 13q14, a region commonly deleted in
RT B-cell chronic lymphocytic leukemia.";
RL Cancer Res. 61:2870-2877(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT VAL-24.
RX PubMed=14565662; DOI=10.3109/10428190309178782;
RA Solomou E.E., Sfikakis P.P., Kotsi P., Papaioannou M., Karali V.,
RA Vervessou E., Hoffbrand A.V., Panayiotidis P.;
RT "13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a
RT novel chromosome condensation regulator-like guanine nucleotide exchange
RT factor.";
RL Leuk. Lymphoma 44:1579-1585(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-24.
RC TISSUE=Brain;
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 MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT VAL-24.
RC TISSUE=Testis;
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).
RN [7]
RP INVOLVEMENT IN RDEOA, VARIANTS RDEOA MET-307; CYS-310; TYR-325; ARG-384;
RP PHE-388 AND LEU-401, AND TISSUE SPECIFICITY.
RX PubMed=27486781; DOI=10.1016/j.ajhg.2016.06.017;
RA Coppieters F., Ascari G., Dannhausen K., Nikopoulos K., Peelman F.,
RA Karlstetter M., Xu M., Brachet C., Meunier I., Tsilimbaris M.K., Tsika C.,
RA Blazaki S.V., Vergult S., Farinelli P., Van Laethem T., Bauwens M.,
RA De Bruyne M., Chen R., Langmann T., Sui R., Meire F., Rivolta C.,
RA Hamel C.P., Leroy B.P., De Baere E.;
RT "Isolated and syndromic retinal dystrophy caused by biallelic mutations in
RT RCBTB1, a gene implicated in ubiquitination.";
RL Am. J. Hum. Genet. 99:470-480(2016).
CC -!- FUNCTION: May be involved in cell cycle regulation by chromatin
CC remodeling. {ECO:0000269|PubMed:11306461}.
CC -!- INTERACTION:
CC Q8NDN9-2; O60260-5: PRKN; NbExp=3; IntAct=EBI-25880533, EBI-21251460;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDN9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDN9-2; Sequence=VSP_040263, VSP_040264;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:11306461,
CC PubMed:27486781). In the retina, present in the nerve fiber layer and
CC to a lesser extent in the inner and outer plexiform layers (at protein
CC level) (PubMed:27486781). {ECO:0000269|PubMed:11306461,
CC ECO:0000269|PubMed:27486781}.
CC -!- DISEASE: Retinal dystrophy with or without extraocular anomalies
CC (RDEOA) [MIM:617175]: An autosomal recessive disease characterized by
CC progressive retinal dystrophy, chorioretinal macular atrophy, reduced
CC cone and rod responses on ERG, and decrease visual acuity. Extraocular
CC anomalies are variably present in some patients and include pulmonary
CC fibrosis, sensorineural hearing loss, and endocrine features such as
CC goiter and primary ovarian insufficiency.
CC {ECO:0000269|PubMed:27486781}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AF334406; AAK38372.1; -; mRNA.
DR EMBL; AJ319660; CAC40027.1; -; mRNA.
DR EMBL; AK096654; BAC04833.1; -; mRNA.
DR EMBL; AL833821; CAD38683.1; -; mRNA.
DR EMBL; AL139321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038104; AAH38104.1; -; mRNA.
DR CCDS; CCDS9418.1; -. [Q8NDN9-1]
DR RefSeq; NP_060661.3; NM_018191.3. [Q8NDN9-1]
DR RefSeq; XP_005266498.1; XM_005266441.2.
DR RefSeq; XP_011533435.1; XM_011535133.1.
DR RefSeq; XP_011533436.1; XM_011535134.1. [Q8NDN9-1]
DR AlphaFoldDB; Q8NDN9; -.
DR SMR; Q8NDN9; -.
DR BioGRID; 120509; 23.
DR IntAct; Q8NDN9; 19.
DR MINT; Q8NDN9; -.
DR STRING; 9606.ENSP00000367552; -.
DR iPTMnet; Q8NDN9; -.
DR PhosphoSitePlus; Q8NDN9; -.
DR BioMuta; RCBTB1; -.
DR DMDM; 74751227; -.
DR EPD; Q8NDN9; -.
DR jPOST; Q8NDN9; -.
DR MassIVE; Q8NDN9; -.
DR MaxQB; Q8NDN9; -.
DR PaxDb; Q8NDN9; -.
DR PeptideAtlas; Q8NDN9; -.
DR PRIDE; Q8NDN9; -.
DR ProteomicsDB; 73045; -. [Q8NDN9-1]
DR ProteomicsDB; 73046; -. [Q8NDN9-2]
DR Antibodypedia; 23945; 242 antibodies from 30 providers.
DR DNASU; 55213; -.
DR Ensembl; ENST00000258646.3; ENSP00000258646.3; ENSG00000136144.12. [Q8NDN9-1]
DR Ensembl; ENST00000378302.7; ENSP00000367552.2; ENSG00000136144.12. [Q8NDN9-1]
DR GeneID; 55213; -.
DR KEGG; hsa:55213; -.
DR MANE-Select; ENST00000378302.7; ENSP00000367552.2; NM_018191.4; NP_060661.3.
DR UCSC; uc001vde.1; human. [Q8NDN9-1]
DR CTD; 55213; -.
DR DisGeNET; 55213; -.
DR GeneCards; RCBTB1; -.
DR HGNC; HGNC:18243; RCBTB1.
DR HPA; ENSG00000136144; Low tissue specificity.
DR MalaCards; RCBTB1; -.
DR MIM; 607867; gene.
DR MIM; 617175; phenotype.
DR neXtProt; NX_Q8NDN9; -.
DR OpenTargets; ENSG00000136144; -.
DR Orphanet; 99002; Reticular dystrophy of the retinal pigment epithelium.
DR PharmGKB; PA134955699; -.
DR VEuPathDB; HostDB:ENSG00000136144; -.
DR eggNOG; KOG1426; Eukaryota.
DR GeneTree; ENSGT00940000155814; -.
DR HOGENOM; CLU_029788_1_0_1; -.
DR InParanoid; Q8NDN9; -.
DR OMA; HDALACY; -.
DR OrthoDB; 1062377at2759; -.
DR PhylomeDB; Q8NDN9; -.
DR TreeFam; TF329478; -.
DR PathwayCommons; Q8NDN9; -.
DR SignaLink; Q8NDN9; -.
DR BioGRID-ORCS; 55213; 9 hits in 1117 CRISPR screens.
DR ChiTaRS; RCBTB1; human.
DR GeneWiki; RCBTB1; -.
DR GenomeRNAi; 55213; -.
DR Pharos; Q8NDN9; Tbio.
DR PRO; PR:Q8NDN9; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8NDN9; protein.
DR Bgee; ENSG00000136144; Expressed in mucosa of paranasal sinus and 191 other tissues.
DR Genevisible; Q8NDN9; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0006325; P:chromatin organization; IEA:UniProtKB-KW.
DR Gene3D; 2.130.10.30; -; 1.
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; 5.
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; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Chromatin regulator; Disease variant;
KW Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation.
FT CHAIN 1..531
FT /note="RCC1 and BTB domain-containing protein 1"
FT /id="PRO_0000206642"
FT REPEAT 40..91
FT /note="RCC1 1"
FT REPEAT 93..145
FT /note="RCC1 2"
FT REPEAT 147..198
FT /note="RCC1 3"
FT REPEAT 199..250
FT /note="RCC1 4"
FT REPEAT 252..302
FT /note="RCC1 5"
FT REPEAT 304..356
FT /note="RCC1 6"
FT DOMAIN 370..437
FT /note="BTB 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 470..499
FT /note="BTB 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT VAR_SEQ 349..355
FT /note="EHEDFLT -> VSIVIGK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040263"
FT VAR_SEQ 356..531
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040264"
FT VARIANT 24
FT /note="A -> V (in dbSNP:rs4942848)"
FT /evidence="ECO:0000269|PubMed:11306461,
FT ECO:0000269|PubMed:14565662, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_024757"
FT VARIANT 307
FT /note="V -> M (in RDEOA; dbSNP:rs368217569)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077962"
FT VARIANT 310
FT /note="W -> C (in RDEOA; dbSNP:rs772592456)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077963"
FT VARIANT 325
FT /note="H -> Y (in RDEOA; dbSNP:rs200826424)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077964"
FT VARIANT 384
FT /note="H -> R (in RDEOA; unknown pathological significance;
FT dbSNP:rs143970072)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077965"
FT VARIANT 388
FT /note="L -> F (in RDEOA; dbSNP:rs879255547)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077966"
FT VARIANT 401
FT /note="S -> L (in RDEOA; unknown pathological significance;
FT dbSNP:rs556664001)"
FT /evidence="ECO:0000269|PubMed:27486781"
FT /id="VAR_077967"
FT VARIANT 500
FT /note="T -> I"
FT /evidence="ECO:0000269|PubMed:11306461"
FT /id="VAR_024830"
FT CONFLICT 118
FT /note="P -> T (in Ref. 6; AAH38104)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 531 AA; 58252 MW; 79CCF6B5C8F75855 CRC64;
MVDVGKWPIF TLLSPQEIAS IRKACVFGTS ASEALYVTDN DEVFVFGLNY SNCLGTGDNQ
STLVPKKLEG LCGKKIKSLS YGSGPHVLLS TEDGVVYAWG HNGYSQLGNG TTNQGIAPVQ
VCTNLLIKQV VEVACGSHHS MALAADGEVF AWGYNNCGQV GSGSTANQPT PRKVTNCLHI
KRVVGIACGQ TSSMAVLDNG EVYGWGYNGN GQLGLGNNGN QLTPVRVAAL HSVCVNQIVC
GYAHTLALTD EGLLYAWGAN TYGQLGTGNK NNLLSPAHIM VEKERVVEIA ACHSAHTSAA
KTQGGHVYMW GQCRGQSVIL PHLTHFSCTD DVFACFATPA VSWRLLSVEH EDFLTVAESL
KKEFDSPETA DLKFRIDGKY IHVHKAVLKI RCEHFRSMFQ SYWNEDMKEV IEIDQFSYPV
YRAFLQYLYT DTVDLPPEDA IGLLDLATSY CENRLKKLCQ HIIKRGITVE NAFSLFSAAV
RYDAEDLEEF CFKFCINHLT EVTQTAAFWQ MDGPLLKEFI AKASKCGAFK N
