LOCUS       NM_018191               4008 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RCC1 and BTB domain containing protein 1 (RCBTB1),
            transcript variant 1, mRNA.
ACCESSION   NM_018191
VERSION     NM_018191.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4008)
  AUTHORS   Wiphakphongpakorn,P., Juengsomjit,R., Poomsawat,S., Meesakul,O.,
            Bhattarai,B.P., Klongnoi,B., Buajeeb,W. and Khovidhunkit,S.P.
  TITLE     Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia
            in a Group of Thai Patients
  JOURNAL   Asian Pac J Cancer Prev 25 (4), 1257-1264 (2024)
   PUBMED   38679985
  REMARK    GeneRIF: Expression of CLLD7 and CHC1L Proteins in Oral Epithelial
            Dysplasia in a Group of Thai Patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4008)
  AUTHORS   Catomeris,A.J., Ballios,B.G., Sangermano,R., Wagner,N.E.,
            Comander,J.I., Pierce,E.A., Place,E.M., Bujakowska,K.M. and
            Huckfeldt,R.M.
  TITLE     Novel RCBTB1 variants causing later-onset non-syndromic retinal
            dystrophy with macular chorioretinal atrophy
  JOURNAL   Ophthalmic Genet 43 (3), 332-339 (2022)
   PUBMED   35057699
  REMARK    GeneRIF: Novel RCBTB1 variants causing later-onset non-syndromic
            retinal dystrophy with macular chorioretinal atrophy.
REFERENCE   3  (bases 1 to 4008)
  AUTHORS   Huang,Z., Zhang,D., Thompson,J.A., Jamuar,S.S., Roshandel,D.,
            Jennings,L., Mellough,C., Charng,J., Chen,S.C., McLaren,T.L.,
            Lamey,T.M., Chelva,E., De Roach,J.N., Chan,C.M., McLenachan,S. and
            Chen,F.K.
  TITLE     Deep clinical phenotyping and gene expression analysis in a patient
            with RCBTB1-associated retinopathy
  JOURNAL   Ophthalmic Genet 42 (3), 266-275 (2021)
   PUBMED   33624564
  REMARK    GeneRIF: Deep clinical phenotyping and gene expression analysis in
            a patient with RCBTB1-associated retinopathy.
REFERENCE   4  (bases 1 to 4008)
  AUTHORS   Yang,J., Xiao,X., Sun,W., Li,S., Jia,X. and Zhang,Q.
  TITLE     Variants in RCBTB1 are Associated with Autosomal Recessive
            Retinitis Pigmentosa but Not Autosomal Dominant FEVR
  JOURNAL   Curr Eye Res 46 (6), 839-844 (2021)
   PUBMED   33104391
  REMARK    GeneRIF: Variants in RCBTB1 are Associated with Autosomal Recessive
            Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
REFERENCE   5  (bases 1 to 4008)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 4008)
  AUTHORS   Guo,D.F., Tardif,V., Ghelima,K., Chan,J.S., Ingelfinger,J.R.,
            Chen,X. and Chenier,I.
  TITLE     A novel angiotensin II type 1 receptor-associated protein induces
            cellular hypertrophy in rat vascular smooth muscle and renal
            proximal tubular cells
  JOURNAL   J Biol Chem 279 (20), 21109-21120 (2004)
   PUBMED   14985364
REFERENCE   7  (bases 1 to 4008)
  AUTHORS   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., 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., 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., 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., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   8  (bases 1 to 4008)
  AUTHORS   Solomou,E.E., Sfikakis,P.P., Kotsi,P., Papaioannou,M., Karali,V.,
            Vervessou,E., Hoffbrand,A.V. and Panayiotidis,P.
  TITLE     13q deletion in chronic lymphocytic leukemia: characterization of
            E4.5, a novel chromosome condensation regulator-like guanine
            nucleotide exchange factor
  JOURNAL   Leuk Lymphoma 44 (9), 1579-1585 (2003)
   PUBMED   14565662
  REMARK    GeneRIF: E4.5 gene, which maps at chromosome band 13q14.3, encodes
            for a 4 kb mRNA expressed in various tissues and has an open
            reading frame of 531 amino acids. It has a potential role in the
            pathogenesis of chronic lymphocytic leukemia [E4.5]
REFERENCE   9  (bases 1 to 4008)
  AUTHORS   Mabuchi,H., Fujii,H., Calin,G., Alder,H., Negrini,M., Rassenti,L.,
            Kipps,T.J., Bullrich,F. and Croce,C.M.
  TITLE     Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel
            candidate genes for leukemogenesis at chromosome 13q14, a region
            commonly deleted in B-cell chronic lymphocytic leukemia
  JOURNAL   Cancer Res 61 (7), 2870-2877 (2001)
   PUBMED   11306461
REFERENCE   10 (bases 1 to 4008)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096654.1, AF334406.1,
            AL833821.1, AK090807.1 and AI079751.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018191.3.
            
            Summary: This gene encodes a protein with an N-terminal RCC1 domain
            and a C-terminal BTB (broad complex, tramtrack and bric-a-brac)
            domain. In rat, over-expression of this gene in vascular smooth
            muscle cells induced cellular hypertrophy. In rat, the C-terminus
            of RCBTB1 interacts with the angiotensin II receptor-1A. In humans,
            this gene maps to a region of chromosome 13q that is frequently
            deleted in B-cell chronic lymphocytic leukemia and other lymphoid
            malignancies. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1-5 all encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF334406.1, SRR1660803.193337.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378302.7/ ENSP00000367552.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AK096654.1         26-81
            57-306              AF334406.1         56-305
            307-583             AL833821.1         242-518
            584-878             AK096654.1         609-903
            879-3982            AK090807.1         24-3127
            3983-4008           AI079751.1         10-35               c
FEATURES             Location/Qualifiers
     source          1..4008
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.2"
     gene            1..4008
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /note="RCC1 and BTB domain containing protein 1"
                     /db_xref="GeneID:55213"
                     /db_xref="HGNC:HGNC:18243"
                     /db_xref="MIM:607867"
     exon            1..115
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            116..195
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            196..362
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     CDS             237..1832
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /note="isoform a is encoded by transcript variant 1;
                     GDP/GTP exchange factor (GEF)-like protein; chronic
                     lymphocytic leukemia deletion region gene 7 protein;
                     regulator of chromosome condensation and BTB
                     domain-containing protein 1; CLL deletion region gene 7
                     protein; regulator of chromosome condensation (RCC1) and
                     BTB (POZ) domain containing protein 1"
                     /codon_start=1
                     /product="RCC1 and BTB domain-containing protein 1 isoform
                     a"
                     /protein_id="NP_060661.3"
                     /db_xref="CCDS:CCDS9418.1"
                     /db_xref="GeneID:55213"
                     /db_xref="HGNC:HGNC:18243"
                     /db_xref="MIM:607867"
                     /translation="MVDVGKWPIFTLLSPQEIASIRKACVFGTSASEALYVTDNDEVF
                     VFGLNYSNCLGTGDNQSTLVPKKLEGLCGKKIKSLSYGSGPHVLLSTEDGVVYAWGHN
                     GYSQLGNGTTNQGIAPVQVCTNLLIKQVVEVACGSHHSMALAADGEVFAWGYNNCGQV
                     GSGSTANQPTPRKVTNCLHIKRVVGIACGQTSSMAVLDNGEVYGWGYNGNGQLGLGNN
                     GNQLTPVRVAALHSVCVNQIVCGYAHTLALTDEGLLYAWGANTYGQLGTGNKNNLLSP
                     AHIMVEKERVVEIAACHSAHTSAAKTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFA
                     CFATPAVSWRLLSVEHEDFLTVAESLKKEFDSPETADLKFRIDGKYIHVHKAVLKIRC
                     EHFRSMFQSYWNEDMKEVIEIDQFSYPVYRAFLQYLYTDTVDLPPEDAIGLLDLATSY
                     CENRLKKLCQHIIKRGITVENAFSLFSAAVRYDAEDLEEFCFKFCINHLTEVTQTAAF
                     WQMDGPLLKEFIAKASKCGAFKN"
     exon            363..513
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            514..680
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            681..839
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            840..947
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1090
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1281
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1408
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1560
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1691
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..4008
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3998..4003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /note="hexamer: ATTAAA"
     polyA_site      4008
                     /gene="RCBTB1"
                     /gene_synonym="CLLD7; CLLL7; GLP; RDEOA"
                     /note="major polyA site"
ORIGIN      
        1 gctcctcctc ttcgctgccg gtgggcaccg ccgctcgctc gcacttctgc gcccattgga
       61 gcttcggaga tccctgcggt cccgcgggac ggcgcggcag cagctgacct cgcagacagg
      121 atcttgctct cttgcccaga ctggaataca gtggtgtgaa cacggctcac tgcagcctca
      181 acctcctgga ctcagagatg tcggcttatt tataggaatt gcttgaagcc agagtcatgg
      241 tggatgtcgg aaagtggccc atcttcactc tactctcccc tcaagagatc gcgtctattc
      301 ggaaggcgtg tgtcttcggc acctcagcca gtgaagcact gtacgttact gacaatgatg
      361 aggtctttgt atttggactg aactatagta actgtctagg aactggagat aaccagagta
      421 cacttgtacc caaaaagcta gaaggcttat gtggaaagaa gattaaaagc ctcagttacg
      481 ggagtggacc acatgttctt ctcagcaccg aagatggagt ggtttatgcc tggggccaca
      541 atggatatag ccagcttggg aatgggacga ccaaccaagg cattgctccc gtccaggtct
      601 gtaccaatct cttgatcaag caagtggtgg aagtagcttg tggctcacat cattcaatgg
      661 ctctggcagc tgatggagag gtgtttgctt ggggttataa caactgtggc caagtgggat
      721 caggttctac agcaaatcaa ccaactcctc gaaaagttac aaactgttta catattaaga
      781 gggtagttgg cattgcctgt ggtcagactt catccatggc tgttctggac aatggcgagg
      841 tatatggctg gggttacaat ggcaacggtc agctgggcct gggaaacaat ggcaaccagc
      901 tgacccctgt gagagtggca gctttgcaca gcgtgtgtgt gaaccagatt gtctgcggtt
      961 acgcacatac tctagcacta acagatgagg gcttgctgta tgcctgggga gctaacacat
     1021 atgggcagct gggaactggc aataaaaata acctgctaag cccagcacac atcatggtgg
     1081 agaaagaaag ggtggtagag attgcagcct gtcactctgc ccacacgtct gcagccaaga
     1141 cgcagggtgg gcacgtgtac atgtggggcc agtgccgggg tcagtccgtg atcctcccgc
     1201 acctcaccca cttctcctgc accgacgacg tgtttgcctg ctttgccact cccgccgtct
     1261 cgtggcgcct cctgtctgtg gagcatgaag actttttaac agttgcagag tcactgaaga
     1321 aagaatttga tagtccagaa actgctgatc tgaagtttcg aattgatgga aaatatattc
     1381 atgtccataa agctgttttg aaaatcaggt gtgagcattt tcgatccatg ttccagtcgt
     1441 attggaatga agacatgaag gaagtgatag aaatcgatca gttttcttac ccagtgtatc
     1501 gtgcctttct ccagtacctc tacacagaca cagtcgacct gccgccagaa gatgctatag
     1561 gtcttctgga tttggcgaca tcttactgtg aaaacagact gaaaaaactt tgtcagcaca
     1621 ttatcaagag aggaattact gtggagaatg ccttttcgct attctctgct gcagtcagat
     1681 atgatgcaga ggatttagaa gaattctgct ttaagttttg catcaatcat ttgacagaag
     1741 ttacacagac tgcagcattt tggcaaatgg atggccctct gctaaaggaa ttcattgcta
     1801 aagccagtaa atgtggagcc tttaagaact gaagcgcaag gctgctgggt tctgtgtgag
     1861 tgctctgggg cactgttgag gatgtgtcca gtttgtgctc tacgggtgat gtgattctgc
     1921 aggtaaaaga ccatcaggtt gtttttttcc acatctggga cacagttgtt tgtgtaggaa
     1981 cataacaagg gtgtacggct tttcttgagc ccattttaaa caacccttgt ttccagataa
     2041 gtgtatttta aatgtgacct ttcgtaaatt tgggctggaa catgtaaaag ggtgaaagtt
     2101 agtcgttttt ggtcttcttt tcatttttga ttagaggaac ttctgaactt ggaaagggga
     2161 agttggcagc aactctcctg ggccacgtat caacaatctt ctgacagcag gagcagtgat
     2221 agttggggaa ttgtgagatg aatggagagg ccccatcgtg aattaaagat gctgacctgg
     2281 ggattgttaa gtgctgcctt agttgctagt ttagtagcct tactgtgaag gaataattaa
     2341 gattgtttca gacttttgtt tgtgtgcttg cgttgatgac ttttttaact tcaagataaa
     2401 tcaaagtaat aagtttaacg tatattaaac ctgttgaaat gataattatg taaagataaa
     2461 tattctaggt tagtcaagat ttctcttaag atttaagtgc ataaagaata gtaatttaga
     2521 agtatccgtg aaaagttgat aatgaaagaa atttgatgaa ggtgaatatt ttataaatta
     2581 gaatctccac tacttatcca atggtgtttt atttcattaa ggtagaactt gagaactcaa
     2641 gtttaaattg tcccccacca ccttcttcta taaatgcaaa cttaagagga aaataatgac
     2701 atgtatagta tactcttgcc ttcctaaatt atgactgctg aatcatcata tctactatat
     2761 atgactggaa gaagtggttc ttcaagtcaa ccctcttaca agacttagtg gaatttgctt
     2821 tatctacttt aggccaaatc catcacacat tggcttatgt gaaactttat catctttcac
     2881 ttttggtttt cctctgtttt taaacatctt aggtataaca gcacaatttc accttgaaaa
     2941 agcaccaaaa ttatggtgtt cctgaaaaga tcctattaaa agacagtagt ttatttgaac
     3001 tggttatgga aggtgacttt gggatgtaag agtgttcaac tgtgagtttc atcatgtgtg
     3061 tccgttgagc ttgcttttaa gagcaatgtt ttgctttgct ctctggtcca tgaactcatt
     3121 tccatttgag tgagttccct tagtgaattt tgtctcctgc ttggaaagtc tctcttctga
     3181 acctggagcc tgaatacatt ttcagagcca aattacaagt gggtgaagac atgctacaac
     3241 tactattttt agcaatgttt ttaaatttgt gtctattggg gtgggaaggg gagtgaggcc
     3301 ctaaagatag gaattcactg atagctgaaa tagatacaag cctaggagcc ccagccccct
     3361 tttcttgacc atatcacaag tgattgaagc ccagtgaatt agtcggttag aattcgttct
     3421 acaacatgat agaacttttc ttactagctt cagaaatgca cattgatttg tgctatgatg
     3481 ggtggtgttt gtaacaatca ctgttctata ggcttatgat ctgagcaaaa tgtgaacttc
     3541 agtatgttta ctattgctct tacttgaaaa ctttttttca aaaaaagcac aaattaaagt
     3601 agtaaattca tatccataga tagttcattc attcaacaaa tatttaccaa gttcctaata
     3661 taagtgaagg accacttctc atattagatt actaagtcat ttgtatgaat atgtgtggca
     3721 gtgaagagaa caggtctttc aaaaagcatt tgattatttt ttttaaatac actctcttat
     3781 ttttctactt gtttttttgt taatcatagc aggatatgac aactcttatt tgaattgatt
     3841 ttttcatcta atgtaataat ggaagccaaa gtattcatat ttcttaagat agccctaaat
     3901 gtactcttga acttcttact ggaacaatgt ttgatactct agtatgtaag ctgtatttat
     3961 gtaatattta gaacgacatg ttaataaaca aagtaacatt aaaacagg
//
