Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CXXC5 (CXXC finger protein 5)

Written2014-04Pelin Yaşar, Mesut Muyan
Department of Biological Sciences, Middle East Technical University, Ankara, Turkey

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)HSPC195
RINF
WID
Other aliasCF5
HGNC (Hugo) CXXC5
LocusID (NCBI) 51523
Atlas_Id 52549
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 139027877 and ends at 139063470 bp from pter ( according to hg19-Feb_2009)  [Mapping CXXC5.png]
Local_order From centromere to telomere: SPATA24-DNAJC18-ECSCR-TMEM173-UBE2D2-CXXC5-PSD2-NRG2.
 
  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.
Fusion genes
(updated 2016)
CXXC5 (5q31.2) / SMYD3 (1q44)
Note Orientation on forward strand.

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.

Protein

 
  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).
Homology CXXC domain is a highly conserved domain of a class of proteins that interact with non-methylated CpG dinucleotides (CpGs). The CXXC domain of CXXC5 displays a significant homology to CXXC domains of CXXC4 and TET3 proteins (Ko et al., 2013).

Mutations

Note Not defined yet.

Implicated in

Note
  
Entity 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 Acute promyelocytic leukemia (APL)
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 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).
  

Bibliography

CXXC5 is a novel BMP4-regulated modulator of Wnt signaling in neural stem cells.
Andersson T, Sodersten E, Duckworth JK, Cascante A, Fritz N, Sacchetti P, Cervenka I, Bryja V, Hermanson O.
J Biol Chem. 2009 Feb 6;284(6):3672-81. doi: 10.1074/jbc.M808119200. Epub 2008 Nov 10.
PMID 19001364
 
CXXC5 (retinoid-inducible nuclear factor, RINF) is a potential therapeutic target in high-risk human acute myeloid leukemia.
Astori A, Fredly H, Aloysius TA, Bullinger L, Mansat-De Mas V, de la Grange P, Delhommeau F, Hagen KM, Recher C, Dusanter-Fourt I, Knappskog S, Lillehaug JR, Pendino F, Bruserud O.
Oncotarget. 2013 Sep;4(9):1438-48.
PMID 23988457
 
RINF (CXXC5) is overexpressed in solid tumors and is an unfavorable prognostic factor in breast cancer.
Knappskog S, Myklebust LM, Busch C, Aloysius T, Varhaug JE, Lonning PE, Lillehaug JR, Pendino F.
Ann Oncol. 2011 Oct;22(10):2208-15. doi: 10.1093/annonc/mdq737. Epub 2011 Feb 16.
PMID 21325450
 
Modulation of TET2 expression and 5-methylcytosine oxidation by the CXXC domain protein IDAX.
Ko M, An J, Bandukwala HS, Chavez L, Aijo T, Pastor WA, Segal MF, Li H, Koh KP, Lahdesmaki H, Hogan PG, Aravind L, Rao A.
Nature. 2013 May 2;497(7447):122-6. doi: 10.1038/nature12052. Epub 2013 Apr 7.
PMID 23563267
 
Myelodysplastic syndrome: review of the cytogenetic and molecular data.
Mhawech P, Saleem A.
Crit Rev Oncol Hematol. 2001 Dec;40(3):229-38. (REVIEW)
PMID 11738946
 
Functional involvement of RINF, retinoid-inducible nuclear factor (CXXC5), in normal and tumoral human myelopoiesis.
Pendino F, Nguyen E, Jonassen I, Dysvik B, Azouz A, Lanotte M, Segal-Bendirdjian E, Lillehaug JR.
Blood. 2009 Apr 2;113(14):3172-81. doi: 10.1182/blood-2008-07-170035. Epub 2009 Jan 30.
PMID 19182210
 
Cooperating gene mutations in acute myeloid leukemia: a review of the literature.
Renneville A, Roumier C, Biggio V, Nibourel O, Boissel N, Fenaux P, Preudhomme C.
Leukemia. 2008 May;22(5):915-31. doi: 10.1038/leu.2008.19. Epub 2008 Feb 21. (REVIEW)
PMID 18288131
 
Curative strategies in acute promyelocytic leukemia.
Tallman MS, Altman JK.
Hematology Am Soc Hematol Educ Program. 2008:391-9. doi: 10.1182/asheducation-2008.1.391.
PMID 19074116
 
Downregulation but lack of promoter hypermethylation or somatic mutations of the potential tumor suppressor CXXC5 in MDS and AML with deletion 5q.
Treppendahl MB, Mollgard L, Hellstrom-Lindberg E, Cloos P, Gronbaek K.
Eur J Haematol. 2013 Mar;90(3):259-60. doi: 10.1111/ejh.12045. Epub 2013 Jan 20.
PMID 23190153
 
CXXC5 Associates with Smads to Mediate TNF-a Induced Apoptosis.
Wang X, Liao P, Fan X, Wan Y, Wang Y, Li Y, Jiang Z, Ye X, Mo X, Ocorr K, Deng Y, Wu X, Yuan W.
Curr Mol Med. 2013 Sep;13(8):1385-96.
PMID 23906331
 
The CXXC finger 5 protein is required for DNA damage-induced p53 activation.
Zhang M, Wang R, Wang Y, Diao F, Lu F, Gao D, Chen D, Zhai Z, Shu H.
Sci China C Life Sci. 2009 Jun;52(6):528-38. doi: 10.1007/s11427-009-0083-7. Epub 2009 Jun 26.
PMID 19557330
 

Citation

This paper should be referenced as such :
P Yasar, M Muyan
CXXC5 (CXXC finger protein 5)
Atlas Genet Cytogenet Oncol Haematol. 2015;19(1):1-3.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CXXC5ID52549ch5q31.html


External links

Nomenclature
HGNC (Hugo)CXXC5   26943
Cards
AtlasCXXC5ID52549ch5q31
Entrez_Gene (NCBI)CXXC5  51523  CXXC finger protein 5
AliasesCF5; HSPC195; RINF; WID
GeneCards (Weizmann)CXXC5
Ensembl hg19 (Hinxton)ENSG00000171604 [Gene_View]  chr5:139027877-139063470 [Contig_View]  CXXC5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171604 [Gene_View]  chr5:139027877-139063470 [Contig_View]  CXXC5 [Vega]
ICGC DataPortalENSG00000171604
TCGA cBioPortalCXXC5
AceView (NCBI)CXXC5
Genatlas (Paris)CXXC5
WikiGenes51523
SOURCE (Princeton)CXXC5
Genetics Home Reference (NIH)CXXC5
Genomic and cartography
GoldenPath hg19 (UCSC)CXXC5  -     chr5:139027877-139063470 +  5q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CXXC5  -     5q31.3   [Description]    (hg38-Dec_2013)
EnsemblCXXC5 - 5q31.3 [CytoView hg19]  CXXC5 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBICXXC5 [Mapview hg19]  CXXC5 [Mapview hg38]
OMIM612752   
Gene and transcription
Genbank (Entrez)AB097005 AB097032 AF151029 AK001782 AK024338
RefSeq transcript (Entrez)NM_001317199 NM_001317200 NM_001317201 NM_001317202 NM_001317203 NM_001317204 NM_001317205 NM_001317206 NM_001317207 NM_001317208 NM_001317209 NM_001317210 NM_001317211 NM_016463
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_029289 NW_004929324
Consensus coding sequences : CCDS (NCBI)CXXC5
Cluster EST : UnigeneHs.744933 [ NCBI ]
CGAP (NCI)Hs.744933
Alternative Splicing GalleryENSG00000171604
Gene ExpressionCXXC5 [ NCBI-GEO ]   CXXC5 [ EBI - ARRAY_EXPRESS ]   CXXC5 [ SEEK ]   CXXC5 [ MEM ]
Gene Expression Viewer (FireBrowse)CXXC5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51523
GTEX Portal (Tissue expression)CXXC5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7LFL8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7LFL8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7LFL8
Splice isoforms : SwissVarQ7LFL8
PhosPhoSitePlusQ7LFL8
Domaine pattern : Prosite (Expaxy)ZF_CXXC (PS51058)   
Domains : Interpro (EBI)Znf_CXXC   
Domain families : Pfam (Sanger)zf-CXXC (PF02008)   
Domain families : Pfam (NCBI)pfam02008   
Conserved Domain (NCBI)CXXC5
DMDM Disease mutations51523
Blocks (Seattle)CXXC5
SuperfamilyQ7LFL8
Human Protein AtlasENSG00000171604
Peptide AtlasQ7LFL8
HPRD13105
IPIIPI00152156   IPI00848213   IPI00968227   IPI00964094   IPI00967060   IPI00966194   IPI00967920   IPI00965341   IPI00964999   IPI00965519   IPI00966725   IPI00965815   IPI00984614   IPI00981610   
Protein Interaction databases
DIP (DOE-UCLA)Q7LFL8
IntAct (EBI)Q7LFL8
FunCoupENSG00000171604
BioGRIDCXXC5
STRING (EMBL)CXXC5
ZODIACCXXC5
Ontologies - Pathways
QuickGOQ7LFL8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  signal transducer activity  protein binding  nucleoplasm  cytoplasm  transcription, DNA-templated  signal transduction  transcription factor binding  zinc ion binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  sequence-specific DNA binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  signal transducer activity  protein binding  nucleoplasm  cytoplasm  transcription, DNA-templated  signal transduction  transcription factor binding  zinc ion binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  sequence-specific DNA binding  
NDEx NetworkCXXC5
Atlas of Cancer Signalling NetworkCXXC5
Wikipedia pathwaysCXXC5
Orthology - Evolution
OrthoDB51523
GeneTree (enSembl)ENSG00000171604
Phylogenetic Trees/Animal Genes : TreeFamCXXC5
HOVERGENQ7LFL8
HOGENOMQ7LFL8
Homologs : HomoloGeneCXXC5
Homology/Alignments : Family Browser (UCSC)CXXC5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCXXC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CXXC5
dbVarCXXC5
ClinVarCXXC5
1000_GenomesCXXC5 
Exome Variant ServerCXXC5
ExAC (Exome Aggregation Consortium)CXXC5 (select the gene name)
Genetic variants : HAPMAP51523
Genomic Variants (DGV)CXXC5 [DGVbeta]
DECIPHER (Syndromes)5:139027877-139063470  ENSG00000171604
CONAN: Copy Number AnalysisCXXC5 
Mutations
ICGC Data PortalCXXC5 
TCGA Data PortalCXXC5 
Broad Tumor PortalCXXC5
OASIS PortalCXXC5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCXXC5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCXXC5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CXXC5
DgiDB (Drug Gene Interaction Database)CXXC5
DoCM (Curated mutations)CXXC5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CXXC5 (select a term)
intoGenCXXC5
NCG5 (London)CXXC5
Cancer3DCXXC5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612752   
Orphanet
MedgenCXXC5
Genetic Testing Registry CXXC5
NextProtQ7LFL8 [Medical]
TSGene51523
GENETestsCXXC5
Huge Navigator CXXC5 [HugePedia]
snp3D : Map Gene to Disease51523
BioCentury BCIQCXXC5
ClinGenCXXC5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51523
Chemical/Pharm GKB GenePA128394661
Clinical trialCXXC5
Miscellaneous
canSAR (ICR)CXXC5 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCXXC5
EVEXCXXC5
GoPubMedCXXC5
iHOPCXXC5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:38:57 CET 2017

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