Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASZ1 (castor zinc finger 1)

Written2013-01Zhihui Liu, Nancy Ding, Carol J Thiele
Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, USA

(Note : for Links provided by Atlas : click)


Alias (NCBI)CAS11
HGNC Alias symbFLJ20321
HGNC Alias namezinc finger protein 693
 survival related gene
HGNC Previous namecastor homolog 1, zinc finger (Drosophila)
LocusID (NCBI) 54897
Atlas_Id 45989
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 10647211 and ends at 10796646 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping CASZ1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CASZ1 (1p36.22)::DFFA (1p36.22)CASZ1 (1p36.22)::MTOR (1p36.22)OBSCN (1q42.13)::CASZ1 (1p36.22)


  Location of DNA of CASZ1 and two forms of the gene due to alternative splicing.
Description DNA of CASZ1a contains 160072 bp composed of 21 exons with 11 zinc fingers, alternative splicing at exon 16 of CASZ1a can result in CASZ1b (16 exons with 5 zinc fingers) (Liu et al., 2006).
Transcription CASZ1 mRNA transcribed in centromeric to telomeric orientation. The CASZ1a cDNA sequence spans 7964 bp, with a 5' UTR of 346 bp, an open reading frame of 5280 bp, and a 3' UTR of 2339 bp; the CASZ1b cDNA sequence spans 4438 bp, with a 5' UTR of 346 bp, an open reading frame of 3501 bp, and a 3' UTR of 592 bp (Liu et al., 2006; with updated information from NCBI database).


  Functional domains of CASZ1.
Description The 5' of CASZ1 contains 2 nuclear localization signals, which tag proteins for import into the cell nucleus, followed by 5 zinc fingers of C2H2 type (Cys2His2). C2H2 zinc fingers are thought to have DNA binding and protein-protein mediation roles. For CASZ1a, six other zinc fingers (ZF) are present along with a third nuclear localization signal between ZF8 and ZF9. CASZ1b totals 1166 amino acids and CASZ1a totals 1794 amino acids (Liu et al., 2006; Virden et al., 2012).
Expression Increased expression when cells of neural and mesenchymal origin are induced to differentiation in vitro. CASZ1 is highly expressed in eye, heart, lung, skeletal muscle, pancreas, testis, small intestine and stomach (Liu et al., 2006; Liu et al., 2011a). CASZ1 is dynamically expressed in the development heart and during neurogenesis (Vacalla and Theil, 2002).
Localisation Nucleus, cytoplasm.
Function CASZ1 is a crucial zinc finger transcription factor that controls the differentiation of neural (Cui and Doe, 1992) and cardiac muscle cells (Christine and Conlon, 2008), eye development (Vacalla and Theil, 2002) and has tumor suppressor properties (Liu et al., 2011b). There is monoallelic loss of CASZ1 in neuroblastoma (NB) tumors through loss of heterozygosity (LOH) and epigenetic silencing (Wang et al., 2012). Restoration of CASZ1 in NB cells induces cell differentiation, inhibits cell migration and suppresses NB growth (Liu et al., 2011a; Liu et al., 2011b). Structural and functional studies show that either deletion of the N-terminus or mutation in any of the first four zinc fingers of CASZ1b results in a drastic loss in transcriptional activity, which also leads to a decreased tumor suppression activity (Virden et al., 2012). Additionally, single nucleotide polymorphisms in this gene are associated with blood pressure variations in East Asian populations (Takeuchi et al., 2010).
Homology Unknown.


Note Unknown.

Implicated in

Entity Neuroblastoma
Note Neuroblastomas (NB) are pediatric cancers arising from cells of the sympathoadrenal lineage of neural crest cells (Brodeur, 2003; Maris, 2010). CASZ1 maps to 1p36.22, part of the most commonly deleted regions of chromosome 1p that occur in 35% of NB cases (Brodeur, 2003). A recent study in 184 primary NB showed that 1p36.3 is the shortest region of overlap for loss of heterozygosity (LOH) (White et al., 2005), although 98% of these 1p36.3 LOH NB tumors also have lost the region encompassing CASZ1 (Liu et al., 2011b). Additionally, CASZ1 is epigenetically silenced in NB by EZH2, a methyltransferase (Wang et al., 2012). HDAC inhibitor treatment of NB cells increases CASZ1 expression (Carén et al., 2007; Fransson et al., 2007). Consistent with CASZ1 being epigenetically regulated, a bivalent mark was found in CASZ1 promoter region in ES cells (Bernstein et al., 2006). CASZ1 is upregulated when NB cells are induced to differentiate by retinoic acid, and restoration of CASZ1 in NB cells up-regulates differentiation genes such as NGFR and TrkA, and suppresses tumor growth (Liu et al., 2011a; Liu et al., 2011b). In NB patients, low CASZ1 expression in NB tumors is associated with poor prognosis and an undifferentiated histology, which suggests loss of CASZ1 may contribute to NB tumorigenesis.
Entity Cervical carcinoma
Note Human papillomavirus (HPV) genome integration into host chromatin enables expression of oncogenes E6 and E7 leading to cervical carcinogenesis. HPV integration may affect transcriptionally active sites. In one reported case of cervical cancer, HPV was found to functionally delete CASZ1 (Schmitz et al., 2012).
Entity Blood hypertension
Note Hypertension, increases in blood pressure, can lead to cardiovascular disease including stroke and ischemic heart disease. CASZ1 has been found to be one of seven loci associated with hypertension in East Asian populations (Takeuchi et al., 2010). CASZ1 could be linked to heart malfunction through inflammatory responses. CASZ1 had been found to have associations in European ancestry but Japanese loci effect size was significantly larger (Takeuchi et al., 2010).


A bivalent chromatin structure marks key developmental genes in embryonic stem cells.
Bernstein BE, Mikkelsen TS, Xie X, Kamal M, Huebert DJ, Cuff J, Fry B, Meissner A, Wernig M, Plath K, Jaenisch R, Wagschal A, Feil R, Schreiber SL, Lander ES.
Cell. 2006 Apr 21;125(2):315-26.
PMID 16630819
Neuroblastoma: biological insights into a clinical enigma.
Brodeur GM.
Nat Rev Cancer. 2003 Mar;3(3):203-16.
PMID 12612655
Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.
Caren H, Fransson S, Ejeskar K, Kogner P, Martinsson T.
Br J Cancer. 2007 Nov 19;97(10):1416-24. Epub 2007 Oct 16.
PMID 17940511
Vertebrate CASTOR is required for differentiation of cardiac precursor cells at the ventral midline.
Christine KS, Conlon FL.
Dev Cell. 2008 Apr;14(4):616-23. doi: 10.1016/j.devcel.2008.01.009.
PMID 18410736
ming is expressed in neuroblast sublineages and regulates gene expression in the Drosophila central nervous system.
Cui X, Doe CQ.
Development. 1992 Dec;116(4):943-52.
PMID 1339340
Neuroblastoma tumors with favorable and unfavorable outcomes: Significant differences in mRNA expression of genes mapped at 1p36.2.
Fransson S, Martinsson T, Ejeskar K.
Genes Chromosomes Cancer. 2007 Jan;46(1):45-52.
PMID 17044048
CASZ1b, the short isoform of CASZ1 gene, coexpresses with CASZ1a during neurogenesis and suppresses neuroblastoma cell growth.
Liu Z, Naranjo A, Thiele CJ.
PLoS One. 2011a Apr 7;6(4):e18557. doi: 10.1371/journal.pone.0018557.
PMID 21490919
CASZ1, a candidate tumor-suppressor gene, suppresses neuroblastoma tumor growth through reprogramming gene expression.
Liu Z, Yang X, Li Z, McMahon C, Sizer C, Barenboim-Stapleton L, Bliskovsky V, Mock B, Ried T, London WB, Maris J, Khan J, Thiele CJ.
Cell Death Differ. 2011b Jul;18(7):1174-83. doi: 10.1038/cdd.2010.187. Epub 2011 Jan 21.
PMID 21252912
Recent advances in neuroblastoma.
Maris JM.
N Engl J Med. 2010 Jun 10;362(23):2202-11. doi: 10.1056/NEJMra0804577.
PMID 20558371
Loss of gene function as a consequence of human papillomavirus DNA integration.
Schmitz M, Driesch C, Beer-Grondke K, Jansen L, Runnebaum IB, Durst M.
Int J Cancer. 2012 Sep 1;131(5):E593-602. doi: 10.1002/ijc.27433. Epub 2012 Feb 22.
PMID 22262398
Blood pressure and hypertension are associated with 7 loci in the Japanese population.
Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, Nabika T, Fujioka A, Ohnaka K, Asano H, Yamori Y, Yamaguchi S, Kobayashi S, Takayanagi R, Ogihara T, Kato N.
Circulation. 2010 Jun 1;121(21):2302-9. doi: 10.1161/CIRCULATIONAHA.109.904664. Epub 2010 May 17.
PMID 20479155
Cst, a novel mouse gene related to Drosophila Castor, exhibits dynamic expression patterns during neurogenesis and heart development.
Vacalla CM, Theil T.
Mech Dev. 2002 Oct;118(1-2):265-8.
PMID 12351199
Characterization of critical domains within the tumor suppressor CASZ1 required for transcriptional regulation and growth suppression.
Virden RA, Thiele CJ, Liu Z.
Mol Cell Biol. 2012 Apr;32(8):1518-28. doi: 10.1128/MCB.06039-11. Epub 2012 Feb 13.
PMID 22331471
EZH2 Mediates epigenetic silencing of neuroblastoma suppressor genes CASZ1, CLU, RUNX3, and NGFR.
Wang C, Liu Z, Woo CW, Li Z, Wang L, Wei JS, Marquez VE, Bates SE, Jin Q, Khan J, Ge K, Thiele CJ.
Cancer Res. 2012 Jan 1;72(1):315-24. doi: 10.1158/0008-5472.CAN-11-0961. Epub 2011 Nov 8.
PMID 22068036
Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma.
White PS, Thompson PM, Gotoh T, Okawa ER, Igarashi J, Kok M, Winter C, Gregory SG, Hogarty MD, Maris JM, Brodeur GM.
Oncogene. 2005 Apr 14;24(16):2684-94.
PMID 15829979


This paper should be referenced as such :
Liu, Z ; Ding, N ; Thiele, CJ
CASZ1 (castor zinc finger 1)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(6):421-423.
Free journal version : [ pdf ]   [ DOI ]

External links


HGNC (Hugo)CASZ1   26002
Entrez_Gene (NCBI)CASZ1    castor zinc finger 1
AliasesCAS11; CST; SRG; ZNF693; 
GeneCards (Weizmann)CASZ1
Ensembl hg19 (Hinxton)ENSG00000130940 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130940 [Gene_View]  ENSG00000130940 [Sequence]  chr1:10647211-10796646 [Contig_View]  CASZ1 [Vega]
ICGC DataPortalENSG00000130940
TCGA cBioPortalCASZ1
Genatlas (Paris)CASZ1
SOURCE (Princeton)CASZ1
Genetics Home Reference (NIH)CASZ1
Genomic and cartography
GoldenPath hg38 (UCSC)CASZ1  -     chr1:10647211-10796646 -  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASZ1  -     1p36.22   [Description]    (hg19-Feb_2009)
GoldenPathCASZ1 - 1p36.22 [CytoView hg19]  CASZ1 - 1p36.22 [CytoView hg38]
Genome Data Viewer NCBICASZ1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA449398 AK000328 AK022285 AK092289 AK130996
RefSeq transcript (Entrez)NM_001039183 NM_001079843 NM_017766
Consensus coding sequences : CCDS (NCBI)CASZ1
Gene ExpressionCASZ1 [ NCBI-GEO ]   CASZ1 [ EBI - ARRAY_EXPRESS ]   CASZ1 [ SEEK ]   CASZ1 [ MEM ]
Gene Expression Viewer (FireBrowse)CASZ1 [ Firebrowse - Broad ]
GenevisibleExpression of CASZ1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54897
GTEX Portal (Tissue expression)CASZ1
Human Protein AtlasENSG00000130940-CASZ1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86V15   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86V15  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86V15
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)CASZ1    Znf_C2H2_type   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)CASZ1
AlphaFold pdb e-kbQ86V15   
Human Protein Atlas [tissue]ENSG00000130940-CASZ1 [tissue]
Protein Interaction databases
IntAct (EBI)Q86V15
Ontologies - Pathways
Ontology : AmiGOchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  nucleus  nucleoplasm  cytosol  regulation of transcription, DNA-templated  multicellular organism development  intracellular membrane-bounded organelle  regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBIchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  nucleus  nucleoplasm  cytosol  regulation of transcription, DNA-templated  multicellular organism development  intracellular membrane-bounded organelle  regulation of neuron differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkCASZ1
Atlas of Cancer Signalling NetworkCASZ1
Wikipedia pathwaysCASZ1
Orthology - Evolution
GeneTree (enSembl)ENSG00000130940
Phylogenetic Trees/Animal Genes : TreeFamCASZ1
Homologs : HomoloGeneCASZ1
Homology/Alignments : Family Browser (UCSC)CASZ1
Gene fusions - Rearrangements
Fusion : MitelmanOBSCN::CASZ1 [1q42.13/1p36.22]  
Fusion : QuiverCASZ1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASZ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASZ1
Exome Variant ServerCASZ1
GNOMAD BrowserENSG00000130940
Varsome BrowserCASZ1
ACMGCASZ1 variants
Genomic Variants (DGV)CASZ1 [DGVbeta]
DECIPHERCASZ1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASZ1 
ICGC Data PortalCASZ1 
TCGA Data PortalCASZ1 
Broad Tumor PortalCASZ1
OASIS PortalCASZ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASZ1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASZ1
Mutations and Diseases : HGMDCASZ1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)CASZ1
DoCM (Curated mutations)CASZ1
CIViC (Clinical Interpretations of Variants in Cancer)CASZ1
NCG (London)CASZ1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry CASZ1
NextProtQ86V15 [Medical]
Target ValidationCASZ1
Huge Navigator CASZ1 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDCASZ1
Pharm GKB GenePA142672203
Clinical trialCASZ1
DataMed IndexCASZ1
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:14:11 CEST 2021

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