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2024-04-20 23:58:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006807 2443 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1,
mRNA.
ACCESSION NM_006807
VERSION NM_006807.4 GI:187960060
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 2443)
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 DA689514.1, BC021302.2,
CB053834.1 and BC002609.1.
On May 13, 2008 this sequence version replaced gi:34147635.
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 (1) represents the longer
transcript. 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 :: BC021302.2, DA140930.1 [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
1-199 DA689514.1 1-199
200-1890 BC021302.2 1-1691
1891-2413 CB053834.1 26-548 c
2414-2443 BC002609.1 2148-2177
FEATURES Location/Qualifiers
source 1..2443
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q21.32"
gene 1..2443
/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="HPRD:05149"
/db_xref="MIM:604511"
exon 1..444
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/inference="alignment:Splign:1.39.8"
misc_feature 404..406
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/note="upstream in-frame stop codon"
exon 445..621
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/inference="alignment:Splign:1.39.8"
CDS 482..1039
/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_006798.1"
/db_xref="GI:5803076"
/db_xref="CCDS:CCDS11525.1"
/db_xref="GeneID:10951"
/db_xref="HGNC:1551"
/db_xref="HPRD:05149"
/db_xref="MIM:604511"
/translation="
MGKKQNKKKVEEVLEEEEEEYVVEKVLDRRVVKGKVEYLLKWKGFSDEDNTWEPEENLDCPDLIAEFLQSQKTAHETDKSEGGKRKADSDSEDKGEESKPKKKKEESEKPRGFARGLEPERIIGATDSSGELMFLMKWKNSDEADLVPAKEANVKCPQVVISFYEERLTWHSYPSEDDDKKDDKN
"
misc_feature 560..688
/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(599..601,605..607,614..616,626..628,638..640,
650..655)
/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 746..748
/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 746..748
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 752..754
/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 833..994
/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(854..856,875..877,938..940,962..964,971..973,
983..985)
/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(962..964,971..973)
/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 1004..1006
/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 1004..1006
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 511
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/replace="a"
/replace="g"
/db_xref="dbSNP:1063470"
exon 622..799
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/inference="alignment:Splign:1.39.8"
exon 800..894
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/inference="alignment:Splign:1.39.8"
exon 895..2422
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/inference="alignment:Splign:1.39.8"
variation 1681
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/replace="a"
/replace="g"
/db_xref="dbSNP:56407566"
variation 1891
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/replace="c"
/replace="t"
/db_xref="dbSNP:8438"
variation 2029
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/replace="a"
/replace="t"
/db_xref="dbSNP:6847"
variation 2360
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
/replace="c"
/replace="t"
/db_xref="dbSNP:1063488"
polyA_signal 2395..2400
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
polyA_site 2415
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
polyA_site 2422
/gene="CBX1"
/gene_synonym="CBX; HP1-BETA; HP1Hs-beta; HP1Hsbeta; M31;
MOD1; p25beta"
ORIGIN
gtgagggaacgcgctttcgaggcggaggttaggagcggggagcgcgcccgggtccagcgtcctgcttctccgcttcccgcgctgagctcttcgcctgtcgctgaggcgtcggtgccagctgcgtgaaggatggagagggcggggcgcgaatcctgagccagagactgagtgcttgggggtgggccgagcacttgggggccgctcttcggggcccgggtggtctggaacaatgttgcttggctgggcggctgcgggatagggcggaaggggacaggcttgaggcttggataggcgtgaggaggcgcatacgaccgcacaacccgaggtttgtaactgtattcggaagacgccgggtccggctgggactgccagaggaacctggctttgcaggactacggaggagtaacgtcgagtgaattggaagagggcccagggccgcacaagcagcgtcaccctttacaccagaaagctggcgggcactatggggaaaaaacaaaacaagaagaaagtggaggaggtgctagaagaggaggaagaggaatatgtggtggaaaaagttctcgaccgtcgagtggtaaagggcaaagtggagtacctcctaaagtggaagggattctcagatgaggacaacacatgggagccagaagagaacctggattgccccgacctcattgctgagtttctgcagtcacagaaaacagcacatgagacagataaatcagagggaggcaagcgcaaagctgattctgattctgaagataagggagaggagagcaaaccaaagaagaagaaagaagagtcagaaaagccacgaggctttgctcgaggtttggagccggagcggattattggagctacagactccagtggagagctcatgttcctgatgaaatggaaaaactctgatgaggctgacctggtccctgccaaggaagccaatgtcaagtgcccacaggttgtcatatccttctatgaggaaaggctgacgtggcattcctacccctcggaggatgatgacaaaaaagatgacaagaactaacgctcctgagtaccagcccctgtcacatctgactgtgggtttcaagtgggaagggaaggagttctacttgtcttgacaccatagaggtggcttgagaagatgtcctttgaagagccagtatagtttctgtgccctgcagcagcccaagtgctttaaagccgtttcaagctgtatagtttgcacacccatcccagtggaggggaaaggggataagtgtttcaaggcaaccttttctgcactttgctgcgaaaagcaaagggccttctatgaaggacaaaacttgcagaattgggtgtgtgggagagcaaaaaaatactgtagatcttcaaagagcatctccacaacccacagccttcttcccaatagtgttaactctgcatttttacagcgtagcatgtgtgtagtttttggctattactggtgtattatttgggggagggagggatggggaggggagaaagggagatgggtagcatcattttgattaacatttggggcctgataggggaaatggtgaagcaatggaaaagaacagacaactaatgatttgcttctatgtccagaatattttacctttaaaaaaatgtcattggcaccataaataaggactgtgagagactgtttaaaagctgtgaaagtctgaaacctataagccaaggtgttccctgcctaaacttattgctgttcccacaaaggactaagcctgttcataagttaccaaagttgccattttggagatggaaattgacgaggagggaaggtcttttattggagagtatacagtacaagcagatcattctgccttagaggtgctaattcccgaaattagaagaccctttcttttccagtaacgaagttataaatatcagcttgttcatccaagccactggctgaggtgttaggaagaggaagagggtggtagaggaggtaagacagtagggaaagacaagggcccatgctcttagtggggaaaactcttggagccgtttactttgagctttgaacactgaaaccattgttggcagggttcagtcactgacagcacaagtttcactgaattgatccaagagtttagtgatttcaaaagccttggtctcaggagaagattaaactttcatattgggcagtggttcactttaaaacacacacatacacacacaaaacaattttttaagaaatcctaataagtaacatacccaaaatgctctgtcttgagtcatgagaaccatcagttcttgatattgtctagacttgcatctagagctacgttgtaaaattcttttaggcatgtgttagatttctgtgtaaactttgtttaaatgtaaacttcatactacattgtcagtttttgtcttaataaaactatagatttataatccctgaaaaaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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