CXXC5 (CXXC finger protein 5)
2014-04-01 Pelin Yaşar , Mesut Muyan AffiliationDepartment of Biological Sciences, Middle East Technical University, Ankara, Turkey
Identity
HGNC
LOCATION
5q31.2
IMAGE
LEGEND
Local order of CXXC5 is shown together with leading and subsequent genes on chromosome 5. The direction of arrows indicates transcriptional directions on the chromosome and arrow sizes approximate gene sizes.
LOCUSID
ALIAS
CF5,HSPC195,RINF,WID
FUSION GENES
DNA/RNA
Boxes are exons. The lines are introns. Shaded parts of the exon boxes are coding regions. Unshaded parts are noncoding regions.
Description
The gene is on the plus strand and encompasses 35 kb of DNA. The exon number of gene is 3 and parts of the second and third exons encode the protein (ENSP00000302543).
Transcription
1447 bp long mRNA; 969 bp long open reading frame.
Pseudogene
No reported pseudogenes.
Proteins
CXXC5 contains a nuclear localization signal adjacent to the CXXC-zinc finger domain.
Description
CXXC5 encodes a 322 amino-acid protein with a molecular mass of 33 kDa. Amino-acid sequence suggests that CXXC5 contains a number of phosphorylation and acetylation sites. By homology, CXXC5 is considered to be a member of CXXC-type zinc finger protein family, which binds to non-methylated CpG dinuclotide containing DNA.
Expression
CXXC5 is expressed in various tissues.
Localisation
CXXC5 protein is mainly in the nucleus. CXXC5 protein may also be localized in the cytoplasm coupled with Dishevelled (Dvl) protein (Andersson et al., 2009).
Function
CXXC5 can be induced by retinoid signaling and is required for myelopoiesis (Pendino et al., 2009). CXXC5 protein is involved in the DNA-damage induced p53 activation as well as in the regulation of cell cycle and apoptosis (Zhang et al., 2009). CXXC5 protein participates in the TNF-a-induced apoptosis through association with SMAD (Wang et al., 2013). CXXC5 protein is a critical modulator of BMP4-regulated Wnt-signaling in neural stem cells (Andersson et al., 2009). CXXC5 protein is shown to repress TET2 gene expression (Ko et al., 2013).
Mutations
Note
Not defined yet.
Implicated in
Entity name
Acute myeloid leukemia (AML) and Myelodysplastic syndrome (MDS)
Disease
Acute myeloid leukemia (AML) is a disease manifested by cytogenetic anomalies affecting cell proliferation, death and differentiation (Renneville et al., 2008). Myelodysplastic syndrome (MDS) defines a hematological condition with insufficient hematopoiesis. MDS results from chromosomal deletions, inversions and translocations giving rise to trilineage dysplasia (Mhawech and Saleem, 2001).
Oncogenesis
The region on the chromosome 5 which also contains CXXC5 gene (5q31.2) is often deleted in AML and MDS (Treppendahl et al., 2013). Low survival rate has been observed in intensive chemotherapy treated patients with AML who show a high level of CXXC5 gene expression (Astori et al., 2013).
Entity name
Disease
APL, which is characterized by the translocation event of the retinoic acid receptor alpha gene, is a rare subtype of AML in which leukemia cells are sensitive to anthracyclines (Tallman and Altman, 2008).
Oncogenesis
Terminal maturation of premyelocytic leukemia cells requires the expression of CXXC5 (Pendino et al., 2009).
Entity name
Breast cancer
Disease
Breast cancer is a disease which is mainly originated in the lining of the milk ducts and/or the lobules.
Oncogenesis
It has been shown that CXXC5 is transcriptionally upregulated in some solid tumors including melanoma, thyroid and breast cancer. In addition, overexpression of CXXC5 in breast cancer is suggested to be associated with poor prognosis (Knappskog et al., 2011).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 19001364 | 2009 | CXXC5 is a novel BMP4-regulated modulator of Wnt signaling in neural stem cells. | Andersson T et al |
| 23988457 | 2013 | CXXC5 (retinoid-inducible nuclear factor, RINF) is a potential therapeutic target in high-risk human acute myeloid leukemia. | Astori A et al |
| 21325450 | 2011 | RINF (CXXC5) is overexpressed in solid tumors and is an unfavorable prognostic factor in breast cancer. | Knappskog S et al |
| 23563267 | 2013 | Modulation of TET2 expression and 5-methylcytosine oxidation by the CXXC domain protein IDAX. | Ko M et al |
| 11738946 | 2001 | Myelodysplastic syndrome: review of the cytogenetic and molecular data. | Mhawech P et al |
| 19182210 | 2009 | Functional involvement of RINF, retinoid-inducible nuclear factor (CXXC5), in normal and tumoral human myelopoiesis. | Pendino F et al |
| 18288131 | 2008 | Cooperating gene mutations in acute myeloid leukemia: a review of the literature. | Renneville A et al |
| 19074116 | 2008 | Curative strategies in acute promyelocytic leukemia. | Tallman MS et al |
| 23190153 | 2013 | Downregulation but lack of promoter hypermethylation or somatic mutations of the potential tumor suppressor CXXC5 in MDS and AML with deletion 5q. | Treppendahl MB et al |
| 23906331 | 2013 | CXXC5 Associates with Smads to Mediate TNF-α Induced Apoptosis. | Wang X et al |
| 19557330 | 2009 | The CXXC finger 5 protein is required for DNA damage-induced p53 activation. | ZHANG M et al |
Other Information
Locus ID:
NCBI: 51523
MIM: 612752
HGNC: 26943
Ensembl: ENSG00000171604
Variants:
dbSNP: 51523
ClinVar: 51523
TCGA: ENSG00000171604
COSMIC: CXXC5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38642782 | 2024 | CXXC5 drove inflammation and ovarian cancer proliferation via transcriptional activation of ZNF143 and EGR1. | 0 |
| 38642782 | 2024 | CXXC5 drove inflammation and ovarian cancer proliferation via transcriptional activation of ZNF143 and EGR1. | 0 |
| 36539038 | 2023 | Zinc-finger protein CXXC5 promotes breast carcinogenesis by regulating the TSC1/mTOR signaling pathway. | 1 |
| 36831222 | 2023 | CXXC5 Mediates DHT-Induced Androgenetic Alopecia via PGD(2). | 4 |
| 37355147 | 2023 | Inhibition of CXXC5 function rescues Alzheimer's disease phenotypes by restoring Wnt/β-catenin signaling pathway. | 0 |
| 37524876 | 2023 | Inhibiting the cytosolic function of CXXC5 accelerates diabetic wound healing by enhancing angiogenesis and skin repair. | 1 |
| 36539038 | 2023 | Zinc-finger protein CXXC5 promotes breast carcinogenesis by regulating the TSC1/mTOR signaling pathway. | 1 |
| 36831222 | 2023 | CXXC5 Mediates DHT-Induced Androgenetic Alopecia via PGD(2). | 4 |
| 37355147 | 2023 | Inhibition of CXXC5 function rescues Alzheimer's disease phenotypes by restoring Wnt/β-catenin signaling pathway. | 0 |
| 37524876 | 2023 | Inhibiting the cytosolic function of CXXC5 accelerates diabetic wound healing by enhancing angiogenesis and skin repair. | 1 |
| 33241676 | 2022 | The epigenetic regulator RINF (CXXC5) maintains SMAD7 expression in human immature erythroid cells and sustains red blood cells expansion. | 2 |
| 35384342 | 2022 | Inhibition of CXXC5 function reverses obesity-related metabolic diseases. | 3 |
| 35915262 | 2022 | Context-dependent tumor-suppressive BMP signaling in diffuse intrinsic pontine glioma regulates stemness through epigenetic regulation of CXXC5. | 9 |
| 33241676 | 2022 | The epigenetic regulator RINF (CXXC5) maintains SMAD7 expression in human immature erythroid cells and sustains red blood cells expansion. | 2 |
| 35384342 | 2022 | Inhibition of CXXC5 function reverses obesity-related metabolic diseases. | 3 |
Citation
Pelin Yaşar ; Mesut Muyan
CXXC5 (CXXC finger protein 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-04-01
Online version: http://atlasgeneticsoncology.org/gene/52549/cxxc5-(cxxc-finger-protein-5)
