2024-04-24 17:12:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001127228 2253 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens chromobox homolog 1 (CBX1), transcript variant 2, mRNA. ACCESSION NM_001127228 VERSION NM_001127228.1 GI:187960036 KEYWORDS RefSeq. 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 2253) AUTHORS Steffens,M., Leu,C., Ruppert,A.K., Zara,F., Striano,P., Robbiano,A., Capovilla,G., Tinuper,P., Gambardella,A., Bianchi,A., La Neve,A., Crichiutti,G., de Kovel,C.G., Kasteleijn-Nolst Trenite,D., de Haan,G.J., Lindhout,D., Gaus,V., Schmitz,B., Janz,D., Weber,Y.G., Becker,F., Lerche,H., Steinhoff,B.J., Kleefuss-Lie,A.A., Kunz,W.S., Surges,R., Elger,C.E., Muhle,H., von Spiczak,S., Ostertag,P., Helbig,I., Stephani,U., Moller,R.S., Hjalgrim,H., Dibbens,L.M., Bellows,S., Oliver,K., Mullen,S., Scheffer,I.E., Berkovic,S.F., Everett,K.V., Gardiner,M.R., Marini,C., Guerrini,R., Lehesjoki,A.E., Siren,A., Guipponi,M., Malafosse,A., Thomas,P., Nabbout,R., Baulac,S., Leguern,E., Guerrero,R., Serratosa,J.M., Reif,P.S., Rosenow,F., Morzinger,M., Feucht,M., Zimprich,F., Kapser,C., Schankin,C.J., Suls,A., Smets,K., De Jonghe,P., Jordanova,A., Caglayan,H., Yapici,Z., Yalcin,D.A., Baykan,B., Bebek,N., Ozbek,U., Gieger,C., Wichmann,H.E., Balschun,T., Ellinghaus,D., Franke,A., Meesters,C., Becker,T., Wienker,T.F., Hempelmann,A., Schulz,H., Ruschendorf,F., Leber,M., Pauck,S.M., Trucks,H., Toliat,M.R., Nurnberg,P., Avanzini,G., Koeleman,B.P. and Sander,T. CONSRTM EPICURE Consortium; EMINet Consortium TITLE Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 JOURNAL Hum. Mol. Genet. 21 (24), 5359-5372 (2012) PUBMED 22949513 REFERENCE 2 (bases 1 to 2253) AUTHORS Munari,F., Soeroes,S., Zenn,H.M., Schomburg,A., Kost,N., Schroder,S., Klingberg,R., Rezaei-Ghaleh,N., Stutzer,A., Gelato,K.A., Walla,P.J., Becker,S., Schwarzer,D., Zimmermann,B., Fischle,W. and Zweckstetter,M. TITLE Methylation of lysine 9 in histone H3 directs alternative modes of highly dynamic interaction of heterochromatin protein hHP1beta with the nucleosome JOURNAL J. Biol. Chem. 287 (40), 33756-33765 (2012) PUBMED 22815475 REMARK GeneRIF: Methylation of lysine 9 in histone H3 directs alternative modes of highly dynamic interaction of heterochromatin protein hHP1beta with the nucleosome REFERENCE 3 (bases 1 to 2253) AUTHORS Bolderson,E., Savage,K.I., Mahen,R., Pisupati,V., Graham,M.E., Richard,D.J., Robinson,P.J., Venkitaraman,A.R. and Khanna,K.K. TITLE Kruppel-associated Box (KRAB)-associated co-repressor (KAP-1) Ser-473 phosphorylation regulates heterochromatin protein 1beta (HP1-beta) mobilization and DNA repair in heterochromatin JOURNAL J. Biol. Chem. 287 (33), 28122-28131 (2012) PUBMED 22715096 REMARK GeneRIF: a novel mechanism of KAP-1-mediated chromatin restructuring via Chk2-regulated HP1-beta exchange from heterochromatin, promoting DNA repair. REFERENCE 4 (bases 1 to 2253) AUTHORS Trembecka-Lucas,D.O. and Dobrucki,J.W. TITLE A heterochromatin protein 1 (HP1) dimer and a proliferating cell nuclear antigen (PCNA) protein interact in vivo and are parts of a multiprotein complex involved in DNA replication and DNA repair JOURNAL Cell Cycle 11 (11), 2170-2175 (2012) PUBMED 22617335 REMARK GeneRIF: HP1 beta and PCNA, a key player in DNA replication, are closely spaced components of a multiprotein complex involved in replication, both in S phase and during DNA repair, and that the functional complex requires formation of an HP1 dimer. REFERENCE 5 (bases 1 to 2253) AUTHORS Huang,Y., Myers,M.P. and Xu,R.M. TITLE Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding JOURNAL Structure 14 (4), 703-712 (2006) PUBMED 16615912 REMARK GeneRIF: HP1 binding as analyzed through the crystal structure of the HP1-EMSY complex REFERENCE 6 (bases 1 to 2253) AUTHORS Aagaard,L., Laible,G., Selenko,P., Schmid,M., Dorn,R., Schotta,G., Kuhfittig,S., Wolf,A., Lebersorger,A., Singh,P.B., Reuter,G. and Jenuwein,T. TITLE Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31 JOURNAL EMBO J. 18 (7), 1923-1938 (1999) PUBMED 10202156 REFERENCE 7 (bases 1 to 2253) AUTHORS Seeler,J.S., Marchio,A., Sitterlin,D., Transy,C. and Dejean,A. TITLE Interaction of SP100 with HP1 proteins: a link between the promyelocytic leukemia-associated nuclear bodies and the chromatin compartment JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (13), 7316-7321 (1998) PUBMED 9636146 REFERENCE 8 (bases 1 to 2253) AUTHORS Lessard,J., Baban,S. and Sauvageau,G. TITLE Stage-specific expression of polycomb group genes in human bone marrow cells JOURNAL Blood 91 (4), 1216-1224 (1998) PUBMED 9454751 REFERENCE 9 (bases 1 to 2253) AUTHORS Furuta,K., Chan,E.K., Kiyosawa,K., Reimer,G., Luderschmidt,C. and Tan,E.M. TITLE Heterochromatin protein HP1Hsbeta (p25beta) and its localization with centromeres in mitosis JOURNAL Chromosoma 106 (1), 11-19 (1997) PUBMED 9169582 REFERENCE 10 (bases 1 to 2253) AUTHORS Wreggett,K.A., Hill,F., James,P.S., Hutchings,A., Butcher,G.W. and Singh,P.B. TITLE A mammalian homologue of Drosophila heterochromatin protein 1 (HP1) is a component of constitutive heterochromatin JOURNAL Cytogenet. Cell Genet. 66 (2), 99-103 (1994) PUBMED 8287692 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA020204.1, DB026977.1, BC002609.1 and BC021302.2. Summary: This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein. 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 :: BC002609.1, U35451.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-79 DA020204.1 1-79 80-641 DB026977.1 1-562 642-1490 BC002609.1 566-1414 1491-1700 BC021302.2 1482-1691 1701-2253 BC002609.1 1625-2177 FEATURES Location/Qualifiers source 1..2253 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.32" gene 1..2253 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="chromobox homolog 1" /db_xref="GeneID:10951" /db_xref="HGNC:1551" /db_xref="MIM:604511" exon 1..254 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /inference="alignment:Splign:1.39.8" variation 210 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="c" /replace="t" /db_xref="dbSNP:3744347" exon 255..431 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /inference="alignment:Splign:1.39.8" CDS 292..849 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="heterochromatin protein p25 beta; chromobox homolog 1 (HP1 beta homolog Drosophila ); modifier 1 protein; heterochromatin protein 1-beta; heterochromatin protein 1 homolog beta" /codon_start=1 /product="chromobox protein homolog 1" /protein_id="NP_001120700.1" /db_xref="GI:187960037" /db_xref="CCDS:CCDS11525.1" /db_xref="GeneID:10951" /db_xref="HGNC:1551" /db_xref="MIM:604511" /translation="
MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN
" misc_feature 370..498 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence...; Region: CHROMO; cd00024" /db_xref="CDD:237991" misc_feature order(409..411,415..417,424..426,436..438,448..450, 460..465) /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="histone binding site; other site" /db_xref="CDD:237991" misc_feature 556..558 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P83916.1); phosphorylation site" misc_feature 562..564 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P83916.1); phosphorylation site" misc_feature 643..804 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="Chromo Shadow Domain, found in association with N-terminal chromo (CHRromatin Organization MOdifier) domain; Chromo domains mediate the interaction of the heterochromatin with other heterochromatin proteins, thereby affecting chromatin structure (e.g; Region: ChSh; cd00034" /db_xref="CDD:237998" misc_feature order(664..666,685..687,748..750,772..774,781..783, 793..795) /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="dimerization interface [polypeptide binding]; other site" /db_xref="CDD:237998" misc_feature order(772..774,781..783) /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /note="potential binding pit; other site" /db_xref="CDD:237998" misc_feature 814..816 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P83916.1); phosphorylation site" variation 321 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="a" /replace="g" /db_xref="dbSNP:1063470" exon 432..609 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /inference="alignment:Splign:1.39.8" exon 610..704 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /inference="alignment:Splign:1.39.8" exon 705..2232 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /inference="alignment:Splign:1.39.8" variation 1491 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="a" /replace="g" /db_xref="dbSNP:56407566" variation 1701 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="c" /replace="t" /db_xref="dbSNP:8438" variation 1839 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="a" /replace="t" /db_xref="dbSNP:6847" variation 2170 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" /replace="c" /replace="t" /db_xref="dbSNP:1063488" polyA_signal 2205..2210 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" polyA_site 2225 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" polyA_site 2232 /gene="CBX1" /gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31; MOD1; p25beta" ORIGIN
gaggcccatggtgccgtgcggcgggtcgttgcgcctgcgcggtgcgagcggcgggcagcgcagactgcgaggctcttttgttcggctgaggggagggccgttggccggggcctgcggtacgccgcttcagtgagggacgccactgcggccacccggcttgctgccttcctgggcgccactcccccaggcgacccgacgcgacgcgccagcagcgcagcaccgattcctctcgggctcttgggcgctgctctgagcagcgtcaccctttacaccagaaagctggcgggcactatggggaaaaaacaaaacaagaagaaagtggaggaggtgctagaagaggaggaagaggaatatgtggtggaaaaagttctcgaccgtcgagtggtaaagggcaaagtggagtacctcctaaagtggaagggattctcagatgaggacaacacatgggagccagaagagaacctggattgccccgacctcattgctgagtttctgcagtcacagaaaacagcacatgagacagataaatcagagggaggcaagcgcaaagctgattctgattctgaagataagggagaggagagcaaaccaaagaagaagaaagaagagtcagaaaagccacgaggctttgctcgaggtttggagccggagcggattattggagctacagactccagtggagagctcatgttcctgatgaaatggaaaaactctgatgaggctgacctggtccctgccaaggaagccaatgtcaagtgcccacaggttgtcatatccttctatgaggaaaggctgacgtggcattcctacccctcggaggatgatgacaaaaaagatgacaagaactaacgctcctgagtaccagcccctgtcacatctgactgtgggtttcaagtgggaagggaaggagttctacttgtcttgacaccatagaggtggcttgagaagatgtcctttgaagagccagtatagtttctgtgccctgcagcagcccaagtgctttaaagccgtttcaagctgtatagtttgcacacccatcccagtggaggggaaaggggataagtgtttcaaggcaaccttttctgcactttgctgcgaaaagcaaagggccttctatgaaggacaaaacttgcagaattgggtgtgtgggagagcaaaaaaatactgtagatcttcaaagagcatctccacaacccacagccttcttcccaatagtgttaactctgcatttttacagcgtagcatgtgtgtagtttttggctattactggtgtattatttgggggagggagggatggggaggggagaaagggagatgggtagcatcattttgattaacatttggggcctgataggggaaatggtgaagcaatggaaaagaacagacaactaatgatttgcttctatgtccagaatattttacctttaaaaaaatgtcattggcaccataaataaggactgtgagagactgtttaaaagctgtgaaagtctgaaacctataagccaaggtgttccctgcctaaacttattgctgttcccacaaaggactaagcctgttcataagttaccaaagttgccattttggagatggaaattgacgaggagggaaggtcttttattggagagtatacagtacaagcagatcattctgccttagaggtgctaattcccgaaattagaagaccctttcttttccagtaacgaagttataaatatcagcttgttcatccaagccactggctgaggtgttaggaagaggaagagggtggtagaggaggtaagacagtagggaaagacaagggcccatgctcttagtggggaaaactcttggagccgtttactttgagctttgaacactgaaaccattgttggcagggttcagtcactgacagcacaagtttcactgaattgatccaagagtttagtgatttcaaaagccttggtctcaggagaagattaaactttcatattgggcagtggttcactttaaaacacacacatacacacacaaaacaattttttaagaaatcctaataagtaacatacccaaaatgctctgtcttgagtcatgagaaccatcagttcttgatattgtctagacttgcatctagagctacgttgtaaaattcttttaggcatgtgttagatttctgtgtaaactttgtttaaatgtaaacttcatactacattgtcagtttttgtcttaataaaactatagatttataatccctgaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10951 -> Molecular function: GO:0003682 [chromatin binding] evidence: TAS GeneID:10951 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10951 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI GeneID:10951 -> Molecular function: GO:0042802 [identical protein binding] evidence: IEA GeneID:10951 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA GeneID:10951 -> Cellular component: GO:0000775 [chromosome, centromeric region] evidence: IDA GeneID:10951 -> Cellular component: GO:0000785 [chromatin] evidence: IDA GeneID:10951 -> Cellular component: GO:0001939 [female pronucleus] evidence: IEA GeneID:10951 -> Cellular component: GO:0001940 [male pronucleus] evidence: IEA GeneID:10951 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:10951 -> Cellular component: GO:0005720 [nuclear heterochromatin] evidence: TAS GeneID:10951 -> Cellular component: GO:0005721 [centromeric heterochromatin] evidence: IEA GeneID:10951 -> Cellular component: GO:0005819 [spindle] evidence: IDA GeneID:10951 -> Cellular component: GO:0010369 [chromocenter] evidence: IEA
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