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Aliases for CBX5 Gene

Aliases for CBX5 Gene

  • Chromobox 5 2 3 5
  • Chromobox Homolog 5 (HP1 Alpha Homolog, Drosophila) 2 3
  • Heterochromatin Protein 1 Homolog Alpha 3 4
  • Antigen P25 3 4
  • HP1A 3 4
  • Chromobox Homolog 5 (Drosophila HP1 Alpha) 2
  • Heterochromatin Protein 1-Alpha 3
  • HP1 Alpha Homolog (Drosophila) 2
  • Epididymis Luminal Protein 25 3
  • Chromobox Homolog 5 2
  • HP1 Alpha Homolog 3
  • HP1Hs Alpha 3
  • HP1-ALPHA 3
  • HP1 Alpha 4
  • HEL25 3
  • HP1 3

External Ids for CBX5 Gene

Previous GeneCards Identifiers for CBX5 Gene

  • GC12M054761
  • GC12M054351
  • GC12M052921
  • GC12M054624

Summaries for CBX5 Gene

Entrez Gene Summary for CBX5 Gene

  • 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]

GeneCards Summary for CBX5 Gene

CBX5 (Chromobox 5) is a Protein Coding gene. Diseases associated with CBX5 include Immunodeficiency, Centromere Instability And Facial Anomalies Syndrome. Among its related pathways are Aurora B signaling and Platelet activation, signaling and aggregation. GO annotations related to this gene include protein homodimerization activity and histone deacetylase binding. An important paralog of this gene is CBX1.

UniProtKB/Swiss-Prot for CBX5 Gene

  • 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.

Gene Wiki entry for CBX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBX5 Gene

Genomics for CBX5 Gene

Regulatory Elements for CBX5 Gene


Promoters for CBX5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CBX5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CBX5 Gene

Chromosome:
12
Start:
54,230,940 bp from pter
End:
54,280,133 bp from pter
Size:
49,194 bases
Orientation:
Minus strand

Genomic View for CBX5 Gene

Genes around CBX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBX5 Gene

Proteins for CBX5 Gene

  • Protein details for CBX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45973-CBX5_HUMAN
    Recommended name:
    Chromobox protein homolog 5
    Protein Accession:
    P45973
    Secondary Accessions:
    • B2R8T9

    Protein attributes for CBX5 Gene

    Size:
    191 amino acids
    Molecular mass:
    22225 Da
    Quaternary structure:
    • Interacts with KMT5B and KMT5C (By similarity). Interacts with HP1BP3. 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.

    Three dimensional structures from OCA and Proteopedia for CBX5 Gene

neXtProt entry for CBX5 Gene

Proteomics data for CBX5 Gene at MOPED

Post-translational modifications for CBX5 Gene

  • 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.
  • Ubiquitinated.
  • Ubiquitination at Lys 32, Lys 42, Lys 91, Lys 102, Lys 125, Lys 143, Lys 154, and Lys 159
  • Modification sites at PhosphoSitePlus

Other Protein References for CBX5 Gene

No data available for DME Specific Peptides for CBX5 Gene

Domains & Families for CBX5 Gene

Gene Families for CBX5 Gene

Suggested Antigen Peptide Sequences for CBX5 Gene

Graphical View of Domain Structure for InterPro Entry

P45973

UniProtKB/Swiss-Prot:

CBX5_HUMAN :
  • Contains 2 chromo domains.
Domain:
  • Contains 2 chromo domains.
genes like me logo Genes that share domains with CBX5: view

Function for CBX5 Gene

Molecular function for CBX5 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035064 methylated histone binding IDA 19783980
genes like me logo Genes that share ontologies with CBX5: view
genes like me logo Genes that share phenotypes with CBX5: view

Animal Models for CBX5 Gene

MGI Knock Outs for CBX5:

Animal Model Products

  • Taconic Biosciences Mouse Models for CBX5

miRNA for CBX5 Gene

miRTarBase miRNAs that target CBX5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CBX5 Gene

Localization for CBX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBX5 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Component of centromeric and pericentromeric heterochromatin. Associates with chromosomes during mitosis. Associates specifically with chromatin during metaphase and anaphase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBX5 Gene COMPARTMENTS Subcellular localization image for CBX5 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for CBX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005635 nuclear envelope TAS 8663349
GO:0005721 pericentric heterochromatin IEA,ISS --
GO:0010369 chromocenter IEA --
genes like me logo Genes that share ontologies with CBX5: view

Pathways & Interactions for CBX5 Gene

genes like me logo Genes that share pathways with CBX5: view

Pathways by source for CBX5 Gene

1 Cell Signaling Technology pathway for CBX5 Gene
2 BioSystems pathways for CBX5 Gene

SIGNOR curated interactions for CBX5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CBX5 Gene

None

Drugs & Compounds for CBX5 Gene

(5) Drugs for CBX5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for CBX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CBX5: view

Transcripts for CBX5 Gene

Unigene Clusters for CBX5 Gene

Chromobox homolog 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CBX5 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7
SP1:
SP2: - - - -
SP3:
SP4:
SP5: -

Relevant External Links for CBX5 Gene

GeneLoc Exon Structure for
CBX5
ECgene alternative splicing isoforms for
CBX5

Expression for CBX5 Gene

mRNA expression in normal human tissues for CBX5 Gene

Protein differential expression in normal tissues from HIPED for CBX5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBX5 Gene



SOURCE GeneReport for Unigene cluster for CBX5 Gene Hs.349283

genes like me logo Genes that share expression patterns with CBX5: view

Protein tissue co-expression partners for CBX5 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CBX5 Gene

Orthologs for CBX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBX5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CBX5 35
  • 97.03 (n)
  • 100 (a)
CBX5 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBX5 35
  • 96.68 (n)
  • 99.48 (a)
CBX5 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbx5 35
  • 92.32 (n)
  • 97.91 (a)
Cbx5 16
Cbx5 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBX5 35
  • 99.65 (n)
  • 100 (a)
CBX5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbx5 35
  • 91.8 (n)
  • 97.91 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 36 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 89 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CBX5 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbx5 35
  • 77.05 (n)
  • 84.7 (a)
African clawed frog
(Xenopus laevis)
Amphibia cbx5-prov 35
zebrafish
(Danio rerio)
Actinopterygii cbx5 35
  • 67.4 (n)
  • 73.77 (a)
cbx5 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HP1b 37
  • 52 (a)
HP1b 36
  • 36 (a)
ManyToMany
HP1c 36
  • 27 (a)
ManyToMany
HP1e 36
  • 32 (a)
ManyToMany
HP6 36
  • 38 (a)
ManyToMany
Su(var)205 36
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea hpl-1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3133 36
  • 45 (a)
OneToMany
Species with no ortholog for CBX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CBX5 Gene

ENSEMBL:
Gene Tree for CBX5 (if available)
TreeFam:
Gene Tree for CBX5 (if available)

Paralogs for CBX5 Gene

Paralogs for CBX5 Gene

(16) SIMAP similar genes for CBX5 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CBX5 Gene

genes like me logo Genes that share paralogs with CBX5: view

Variants for CBX5 Gene

Sequence variations from dbSNP and Humsavar for CBX5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs7134027 -- 54,270,850(+) ggtct(A/G)acacc intron-variant
rs9382 -- 54,234,400(+) AAAAA(A/G)GCTGA utr-variant-3-prime
rs7303812 -- 54,244,258(+) ctcgg(C/T)gtctc intron-variant
rs12820663 -- 54,267,979(+) tctct(A/G)ccaaa intron-variant
rs12820824 -- 54,267,977(+) catct(C/G)tacca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBX5 Gene

Variant ID Type Subtype PubMed ID
nsv832419 CNV Loss 17160897
nsv832420 CNV Loss 17160897
nsv509467 CNV Insertion 20534489
esv25123 CNV Loss 19812545

Variation tolerance for CBX5 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBX5 Gene

Human Gene Mutation Database (HGMD)
CBX5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBX5 Gene

Disorders for CBX5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CBX5 Gene - From: Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search CBX5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CBX5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBX5
genes like me logo Genes that share disorders with CBX5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBX5 Gene

Publications for CBX5 Gene

  1. Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1. (PMID: 8663349) Ye Q. … Worman H.J. (J. Biol. Chem. 1996) 2 3 4 23 67
  2. Inner centromere formation requires hMis14, a trident kinetochore protein that specifically recruits HP1 to human chromosomes. (PMID: 20231385) Kiyomitsu T. … Yanagida M. (J. Cell Biol. 2010) 3 23
  3. Heterochromatin protein 1 (HP1) proteins do not drive pericentromeric cohesin enrichment in human cells. (PMID: 19352502) Serrano A. … Losada A. (PLoS ONE 2009) 3 23
  4. The histone methyltransferase SUV420H2 and Heterochromatin Proteins HP1 interact but show different dynamic behaviours. (PMID: 19486527) Souza P.P. … Angrand P.O. (BMC Cell Biol. 2009) 3 23
  5. The role of YY1 in reduced HP1alpha gene expression in invasive human breast cancer cells. (PMID: 19566924) Lieberthal J.G. … Tanese N. (Breast Cancer Res. 2009) 3 23

Products for CBX5 Gene

Sources for CBX5 Gene

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