CXXC1 (CXXC finger protein 1)

2016-10-01  

Identity

HGNC
CXXC1
LOCATION
18q21.1
LOCUSID
30827
ALIAS
2410002I16Rik,5830420C16Rik,CFP1,CGBP,HsT2645,PCCX1,PHF18,SPP1,ZCGPC1,hCGBP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30827
MIM: 609150
HGNC: 24343
Ensembl: ENSG00000154832

Variants:

dbSNP: 30827
ClinVar: 30827
TCGA: ENSG00000154832
COSMIC: CXXC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154832ENST00000285106Q9P0U4
ENSG00000154832ENST00000412036Q9P0U4
ENSG00000154832ENST00000586837K7EJR0
ENSG00000154832ENST00000589548K7EQZ1
ENSG00000154832ENST00000589940K7EQ21
ENSG00000154832ENST00000591474K7EKZ6

Expression (GTEx)

0
50
100
150
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
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

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
162539972005CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex.135
214071932011The structural basis for selective binding of non-methylated CpG islands by the CFP1 CXXC domain.48
186804302008CFP1 interacts with DNMT1 independently of association with the Setd1 Histone H3K4 methyltransferase complexes.19
194334492009CXXC finger protein 1 contains redundant functional domains that support embryonic stem cell cytosine methylation, histone methylation, and differentiation.18
180821522008Human CpG binding protein interacts with MLL1, MLL2 and hSet1 and regulates Hox gene expression.16
238516902013Induction of activation-induced cytidine deaminase-targeting adaptor 14-3-3γ is mediated by NF-κB-dependent recruitment of CFP1 to the 5'-CpG-3'-rich 14-3-3γ promoter and is sustained by E2A.8
173286662007CXXC finger protein 1 is required for normal proliferation and differentiation of the PLB-985 myeloid cell line.7
272102932016CXXC finger protein 1 is critical for T-cell intrathymic development through regulating H3K4 trimethylation.7
302922352018CpG binding protein (CFP1) occupies open chromatin regions of active genes, including enhancers and non-CpG islands.2

Citation

Dessen P

CXXC1 (CXXC finger protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56040/cxxc1