CBX5 (chromobox 5)

2007-02-01  

Identity

HGNC
CBX5
LOCATION
12q13.13
LOCUSID
23468
ALIAS
HEL25,HP1,HP1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23468
MIM: 604478
HGNC: 1555
Ensembl: ENSG00000094916

Variants:

dbSNP: 23468
ClinVar: 23468
TCGA: ENSG00000094916
COSMIC: CBX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000094916ENST00000209875P45973
ENSG00000094916ENST00000209875V9HWG0
ENSG00000094916ENST00000439541P45973
ENSG00000094916ENST00000439541V9HWG0
ENSG00000094916ENST00000550411P45973
ENSG00000094916ENST00000550411V9HWG0
ENSG00000094916ENST00000552562F8VNY3

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
197839802009JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin.245
286366042017Liquid droplet formation by HP1α suggests a role for phase separation in heterochromatin.245
125605552003Maintenance of stable heterochromatin domains by dynamic HP1 binding.191
174705362007Functional cooperation between HP1 and DNMT1 mediates gene silencing.121
205628642010Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation.90
194984642009The HP1alpha-CAF1-SetDB1-containing complex provides H3K9me1 for Suv39-mediated K9me3 in pericentric heterochromatin.86
229227422012Telomere length regulates TERRA levels through increased trimethylation of telomeric H3K9 and HP1α.85
127116032003Methyl-CpG binding domain 1 (MBD1) interacts with the Suv39h1-HP1 heterochromatic complex for DNA methylation-based transcriptional repression.79
188096842008G9a and HP1 couple histone and DNA methylation to TNFalpha transcription silencing during endotoxin tolerance.73
257048152015HP1 is involved in regulating the global impact of DNA methylation on alternative splicing.64

Citation

Dessen P

CBX5 (chromobox 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45904/cbx5-(chromobox-5)