Human Gene CBX5 (uc001sfj.4)
  Description: Homo sapiens chromobox homolog 5 (CBX5), transcript variant 2, mRNA.
RefSeq Summary (NM_001127321): 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 encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr12:54,624,731-54,653,370 Size: 28,640 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr12:54,635,539-54,651,434 Size: 15,896 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:54,624,731-54,653,370)mRNA (may differ from genome)Protein (191 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CBX5_HUMAN
DESCRIPTION: RecName: Full=Chromobox protein homolog 5; AltName: Full=Antigen p25; AltName: Full=Heterochromatin protein 1 homolog alpha; Short=HP1 alpha;
FUNCTION: Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins.
SUBUNIT: Interacts with SUV420H1 and SUV420H2 (By similarity). Interacts with HP1BP3 (By similarity). Interacts directly with ATRX, CHAF1A, LBR, NIPBL, SP100, STAM2 and TRIM28 via the chromoshadow domain. Can interact directly with CBX3 via the chromoshadow domain. Interacts with histone H3 methylated at 'Lys- 9'. Interacts with BAHD1, MIS12 and DSN1. Interacts with POGZ; POGZ and PXVXL motif-containing proteins such as INCENP and TRIM28 compete for interaction with CBX5. Interacts with INCENP and TRIM24. Interacts with JC virus agnoprotein; this interaction induces the dissociation of CBX5 from LBR, resulting in destabilization of the nuclear envelope. Interacts with CHAMP1. Interacts with ASXL1.
INTERACTION: Q9H2P0:ADNP; NbExp=2; IntAct=EBI-78219, EBI-1764854; Q8IXJ9:ASXL1; NbExp=2; IntAct=EBI-78219, EBI-1646500; P59598:Asxl1 (xeno); NbExp=5; IntAct=EBI-78219, EBI-5743705; Q13111:CHAF1A; NbExp=3; IntAct=EBI-78219, EBI-1020839; Q9NQS7:INCENP; NbExp=6; IntAct=EBI-78219, EBI-307907; Q14739:LBR; NbExp=4; IntAct=EBI-78219, EBI-1055147; Q9UIS9:MBD1; NbExp=5; IntAct=EBI-78219, EBI-867196; Q7Z3K3:POGZ; NbExp=5; IntAct=EBI-78219, EBI-1389308; O43463:SUV39H1; NbExp=3; IntAct=EBI-78219, EBI-349968; Q13263:TRIM28; NbExp=7; IntAct=EBI-78219, EBI-78139;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, centromere. Note=Component of centromeric and pericentromeric heterochromatin. Associates with chromosomes during mitosis. Associates specifically with chromatin during metaphase and anaphase.
PTM: Phosphorylation of HP1 and LBR may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle (By similarity). Phosphorylated during interphase and possibly hyper- phosphorylated during mitosis.
PTM: Ubiquitinated.
SIMILARITY: Contains 2 chromo domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CBX5
Diseases sorted by gene-association score: reynolds syndrome (9), immunodeficiency-centromeric instability-facial anomalies syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.51 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 443.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.20120-0.427 Picture PostScript Text
3' UTR -3315.2510808-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017984 - Chromo_dom_subgr
IPR023780 - Chromo_domain
IPR000953 - Chromo_domain/shadow
IPR008251 - Chromo_shadow_dom
IPR016197 - Chromodomain-like
IPR023779 - Chromodomain_CS

Pfam Domains:
PF00385 - Chromo (CHRromatin Organisation MOdifier) domain
PF01393 - Chromo shadow domain

SCOP Domains:
54160 - Chromo domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3FDT - X-ray MuPIT 3I3C - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P45973
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0030674 protein binding, bridging
GO:0035064 methylated histone binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0042826 histone deacetylase binding
GO:0043021 ribonucleoprotein complex binding
GO:0044877 macromolecular complex binding
GO:0070491 repressing transcription factor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0007596 blood coagulation
GO:0016032 viral process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0070317 negative regulation of G0 to G1 transition

Cellular Component:
GO:0000118 histone deacetylase complex
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000784 nuclear chromosome, telomeric region
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005720 nuclear heterochromatin
GO:0005721 pericentric heterochromatin
GO:0005730 nucleolus
GO:0010369 chromocenter
GO:0017053 transcriptional repressor complex
GO:0031618 nuclear pericentric heterochromatin
GO:0032991 macromolecular complex
GO:0035097 histone methyltransferase complex
GO:1990904 ribonucleoprotein complex
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  S62077 - HP1Hs alpha=25 kda chromosomal autoantigen [human, mRNA, 876 nt].
EU794599 - Homo sapiens epididymis luminal protein 25 (HEL25) mRNA, complete cds.
L07515 - Human heterochromatin protein homologue (HP1) mRNA, complete cds.
BC030149 - Homo sapiens cDNA clone IMAGE:4842353, partial cds.
BC047432 - Homo sapiens cDNA clone IMAGE:5288883.
AK055641 - Homo sapiens cDNA FLJ31079 fis, clone HSYRA2001595.
JD225155 - Sequence 206179 from Patent EP1572962.
HZ409081 - JP 2015528002-A/1678: CHIRAL CONTROL.
LG052415 - KR 1020150036642-A/1681: CHIRAL CONTROL.
FR772780 - Homo sapiens microRNA hsa-miR-3198-3p.
FR772968 - Homo sapiens microRNA hsa-miR-4702-3p.
HZ074909 - JP 2013535982-A/1000: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ083290 - JP 2015513906-A/647: Stem Cell Microparticles.
HZ437071 - JP 2015529450-A/647: Stem Cell Microparticles.
HZ480188 - JP 2015535430-A/694: TERMINALLY MODIFIED RNA.
HZ790119 - JP 2016504050-A/1864: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JB074972 - Sequence 232 from Patent WO2012168448.
JB621094 - Sequence 1074 from Patent WO2013063544.
JC172275 - Sequence 647 from Patent WO2013150303.
JC512851 - Sequence 3104 from Patent WO2014113089.
JC573086 - Sequence 647 from Patent WO2014125276.
JC582774 - Sequence 647 from Patent WO2014125277.
JE954470 - Sequence 647 from Patent WO2015052526.
JE956223 - Sequence 647 from Patent WO2015052527.
LF137975 - JP 2016507550-A/647: Method of Producing Microparticles.
LF161509 - JP 2016513950-A/1575: Oligomers with improved off-target profile.
LF162940 - JP 2016513095-A/647: Stem Cell Microparticles and miRNA.
LF644437 - JP 2016144439-A/28: Method for assessing cell aging.
LF953692 - JP 2016534103-A/647: Stem Cell Microparticles and miRNA.
LG006037 - KR 1020150004822-A/647: STEM CELL MICROPARTICLES.
LG053733 - KR 1020150059168-A/647: STEM CELL MICROPARTICLES.
LG240972 - KR 1020160035087-A/647: STEM CELL MICROPARTICLES AND MIRNA.
LP951747 - Sequence 253 from Patent WO2017157650.
LQ070439 - Sequence 763 from Patent EP2964234.
LQ422104 - Sequence 42 from Patent EP3026121.
LQ441225 - Sequence 232 from Patent EP3029157.
LV471057 - JP 2016534036-A/647: Stem Cell Microparticles and miRNA.
JD429840 - Sequence 410864 from Patent EP1572962.
JD038301 - Sequence 19325 from Patent EP1572962.
DQ572727 - Homo sapiens piRNA piR-40839, complete sequence.
JD469029 - Sequence 450053 from Patent EP1572962.
DQ601556 - Homo sapiens piRNA piR-39622, complete sequence.
JD207503 - Sequence 188527 from Patent EP1572962.
DQ582998 - Homo sapiens piRNA piR-50110, complete sequence.
JD392244 - Sequence 373268 from Patent EP1572962.
JD499150 - Sequence 480174 from Patent EP1572962.
DQ599282 - Homo sapiens piRNA piR-37348, complete sequence.
JD020249 - Sequence 1273 from Patent EP1572962.
JD029923 - Sequence 10947 from Patent EP1572962.
JD029896 - Sequence 10920 from Patent EP1572962.
DQ599843 - Homo sapiens piRNA piR-37909, complete sequence.
DQ599842 - Homo sapiens piRNA piR-37908, complete sequence.
JD425224 - Sequence 406248 from Patent EP1572962.
DQ599945 - Homo sapiens piRNA piR-38011, complete sequence.
JD512217 - Sequence 493241 from Patent EP1572962.
JD367614 - Sequence 348638 from Patent EP1572962.
JD396175 - Sequence 377199 from Patent EP1572962.
JD489080 - Sequence 470104 from Patent EP1572962.
AK056315 - Homo sapiens cDNA FLJ31753 fis, clone NT2RI2007468.
JD331078 - Sequence 312102 from Patent EP1572962.
JD242753 - Sequence 223777 from Patent EP1572962.
DQ589808 - Homo sapiens piRNA piR-56920, complete sequence.
DQ596656 - Homo sapiens piRNA piR-34722, complete sequence.
AK023520 - Homo sapiens cDNA FLJ13458 fis, clone PLACE1003361.
AK095108 - Homo sapiens cDNA FLJ37789 fis, clone BRHIP3000081.
DQ579891 - Homo sapiens piRNA piR-48003, complete sequence.
JD074150 - Sequence 55174 from Patent EP1572962.
JD228565 - Sequence 209589 from Patent EP1572962.
JD488193 - Sequence 469217 from Patent EP1572962.
DQ582501 - Homo sapiens piRNA piR-32613, complete sequence.
DQ601816 - Homo sapiens piRNA piR-39882, complete sequence.
AF147443 - Homo sapiens full length insert cDNA clone ZC65B08.
BC006821 - Homo sapiens chromobox homolog 5 (HP1 alpha homolog, Drosophila), mRNA (cDNA clone MGC:4985 IMAGE:3448801), complete cds.
U26311 - Human heterochromatin protein HP1Hs-alpha mRNA, partial cds.
JD151553 - Sequence 132577 from Patent EP1572962.
JD113250 - Sequence 94274 from Patent EP1572962.
JD053128 - Sequence 34152 from Patent EP1572962.
JD082876 - Sequence 63900 from Patent EP1572962.
DQ570316 - Homo sapiens piRNA piR-30428, complete sequence.
CR457418 - Homo sapiens full open reading frame cDNA clone RZPDo834G1110D for gene CBX5, chromobox homolog 5 (HP1 alpha homolog, Drosophila); complete cds, incl. stopcodon.
AK313506 - Homo sapiens cDNA, FLJ94062, Homo sapiens chromobox homolog 5 (HP1 alpha homolog, Drosophila)(CBX5), mRNA.
EU446624 - Synthetic construct Homo sapiens clone IMAGE:100070025; IMAGE:100011833; FLH258252.01L chromobox homolog 5 (HP1 alpha homolog, Drosophila) (CBX5) gene, encodes complete protein.
EU446784 - Synthetic construct Homo sapiens clone IMAGE:100070352; IMAGE:100011993; FLH262809.01L chromobox homolog 5 (HP1 alpha homolog, Drosophila) (CBX5) gene, encodes complete protein.
AB528597 - Synthetic construct DNA, clone: pF1KB3469, Homo sapiens CBX5 gene for chromobox homolog 5, without stop codon, in Flexi system.
MA643940 - JP 2017113010-A/1864: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA731824 - JP 2017140048-A/694: TERMINALLY MODIFIED RNA.
MA406001 - WO 2018155427-A/775: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA800993 - JP 2018183181-A/1864: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MP129747 - Sequence 647 from Patent EP3470073.
MP162670 - Sequence 647 from Patent WO2019069093.
MB420660 - JP 2019154320-A/28: Method for evaluating cell quality.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P45973 (Reactome details) participates in the following event(s):

R-HSA-994106 HP1 alpha binds Histone H3K9(me)3
R-HSA-4615933 SUMOylation of CBX5 with SUMO1
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-109582 Hemostasis
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-212436 Generic Transcription Pathway
R-HSA-2990846 SUMOylation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-597592 Post-translational protein modification
R-HSA-74160 Gene expression (Transcription)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8T9, CBX5_HUMAN, HP1A, NM_001127321, NP_036249, P45973
UCSC ID: uc001sfj.4
RefSeq Accession: NM_001127321
Protein: P45973 (aka CBX5_HUMAN)
CCDS: CCDS8875.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001127321.1
exon count: 5CDS single in 3' UTR: no RNA size: 11525
ORF size: 576CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1352.00frame shift in genome: no % Coverage: 99.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.