Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CASZ1 Gene

Aliases for CASZ1 Gene

  • Castor Zinc Finger 1 2 3 5
  • Zinc Finger Protein 693 2 3 4
  • Castor-Related Protein 3 4
  • ZNF693 3 4
  • CST 3 4
  • SRG 3 4
  • Castor Homolog 1, Zinc Finger (Drosophila) 2
  • Zinc Finger Protein Castor Homolog 1 3
  • Putative Survival-Related Protein 4
  • Castor Homolog 1, Zinc Finger 3
  • Survival Related Gene 2
  • Survival-Related 3
  • DJ734G22.1 3
  • CAS11 3

External Ids for CASZ1 Gene

Previous GeneCards Identifiers for CASZ1 Gene

  • GC01M009850

Summaries for CASZ1 Gene

Entrez Gene Summary for CASZ1 Gene

  • The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for CASZ1 Gene

CASZ1 (Castor Zinc Finger 1) is a Protein Coding gene. Diseases associated with CASZ1 include Retroperitoneal Sarcoma and Retroperitoneum Carcinoma.

UniProtKB/Swiss-Prot for CASZ1 Gene

  • Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).

Gene Wiki entry for CASZ1 Gene

Additional gene information for CASZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASZ1 Gene

Genomics for CASZ1 Gene

GeneHancer (GH) Regulatory Elements for CASZ1 Gene

Promoters and enhancers for CASZ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I010790 Promoter/Enhancer 3.3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.8 +2.9 2863 6.4 PKNOX1 ARID4B NEUROD1 SIN3A ZNF2 YY1 ZNF213 ZNF548 KLF13 SP3 CASZ1 TARDBP ANGPTL7 ENSG00000226849 CLSTN1 UBIAD1 FBXO44 EXOSC10 GC01P010673
GH01I010744 Promoter/Enhancer 1.1 EPDnew FANTOM5 dbSUPER 550.2 +51.8 51786 0.2 ZNF335 CASZ1 C1orf127 GC01P010673
GH01I010031 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.3 +763.3 763312 4.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 PIR54123 UBE4B GC01M010031 TARDBP LZIC GPR157 CASZ1 KIF1B RBP7 PGD
GH01I009942 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 +853.5 853465 2.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 LZIC NMNAT1 ENSG00000228150 MIR34AHG GPR157 CASZ1 RBP7
GH01I011261 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 -465.9 -465877 2.3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 IRF4 YY1 MTOR UBIAD1 CASZ1 TARDBP ENSG00000226849 RPL39P6 GC01M011183
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASZ1 gene promoter:

Genomic Locations for CASZ1 Gene

Genomic Locations for CASZ1 Gene
160,073 bases
Minus strand

Genomic View for CASZ1 Gene

Genes around CASZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASZ1 Gene

Proteins for CASZ1 Gene

  • Protein details for CASZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein castor homolog 1
    Protein Accession:
    Secondary Accessions:
    • Q078S9
    • Q2EN02
    • Q5T9S1
    • Q6ZNM8
    • Q8WX49
    • Q8WX50
    • Q9BT16
    • Q9NXC6

    Protein attributes for CASZ1 Gene

    1759 amino acids
    Molecular mass:
    190069 Da
    Quaternary structure:
    No Data Available
    • Endothelial cells depleted in CASZ1 by siRNAs display dramatic alterations in adhesion, morphology and sprouting; normal behavior can be rescued by restoration of EGFL7 expression. The defects are in part due to diminished RhoA expression and impaired focal adhesion localization.
    • Sequence=ABD14411.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA91089.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85474.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for CASZ1 Gene


neXtProt entry for CASZ1 Gene

Post-translational modifications for CASZ1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CASZ1 Gene

Domains & Families for CASZ1 Gene

Gene Families for CASZ1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for CASZ1 Gene


Suggested Antigen Peptide Sequences for CASZ1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CASZ1: view

No data available for UniProtKB/Swiss-Prot for CASZ1 Gene

Function for CASZ1 Gene

Molecular function for CASZ1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441).

Phenotypes From GWAS Catalog for CASZ1 Gene

Gene Ontology (GO) - Molecular Function for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CASZ1: view
genes like me logo Genes that share phenotypes with CASZ1: view

Animal Models for CASZ1 Gene

MGI Knock Outs for CASZ1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASZ1 Gene

Localization for CASZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASZ1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASZ1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CASZ1: view

Pathways & Interactions for CASZ1 Gene

SuperPathways for CASZ1 Gene

No Data Available

Interacting Proteins for CASZ1 Gene

Gene Ontology (GO) - Biological Process for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0045664 regulation of neuron differentiation IBA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 27693370
genes like me logo Genes that share ontologies with CASZ1: view

No data available for Pathways by source and SIGNOR curated interactions for CASZ1 Gene

Drugs & Compounds for CASZ1 Gene

No Compound Related Data Available

Transcripts for CASZ1 Gene

Unigene Clusters for CASZ1 Gene

Castor zinc finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASZ1 Gene

No ASD Table

Relevant External Links for CASZ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CASZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASZ1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.6) and Skin - Not Sun Exposed (Suprapubic) (x5.3).

Protein differential expression in normal tissues from HIPED for CASZ1 Gene

This gene is overexpressed in Plasma (29.2), Retina (19.3), and Breast (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASZ1 Gene

Protein tissue co-expression partners for CASZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASZ1 Gene:


SOURCE GeneReport for Unigene cluster for CASZ1 Gene:


mRNA Expression by UniProt/SwissProt for CASZ1 Gene:

Tissue specificity: Expressed in heart, lung, skeletal muscle, pancreas, testis, small intestine, and stomach, but it is not detectable in the adult brain.

Evidence on tissue expression from TISSUES for CASZ1 Gene

  • Heart(4.3)
  • Intestine(4.3)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with CASZ1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CASZ1 Gene

Orthologs for CASZ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CASZ1 33 34
  • 98.37 (n)
(Bos Taurus)
Mammalia CASZ1 33 34
  • 91.32 (n)
(Canis familiaris)
Mammalia CASZ1 33 34
  • 90.16 (n)
(Mus musculus)
Mammalia Casz1 33 16 34
  • 88.33 (n)
(Rattus norvegicus)
Mammalia Casz1 33
  • 88.14 (n)
(Ornithorhynchus anatinus)
Mammalia CASZ1 34
  • 81 (a)
(Monodelphis domestica)
Mammalia CASZ1 34
  • 67 (a)
(Gallus gallus)
Aves CASZ1 33 34
  • 77.89 (n)
(Anolis carolinensis)
Reptilia CASZ1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia casz1 33
  • 66.37 (n)
(Danio rerio)
Actinopterygii casz1 33 34
  • 70.08 (n)
wufc21h10 33
fruit fly
(Drosophila melanogaster)
Insecta cas 34
  • 25 (a)
CG7512 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
CSA.2018 34
  • 24 (a)
Species where no ortholog for CASZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASZ1 Gene

Gene Tree for CASZ1 (if available)
Gene Tree for CASZ1 (if available)

Paralogs for CASZ1 Gene Pseudogenes for CASZ1 Gene

genes like me logo Genes that share paralogs with CASZ1: view

No data available for Paralogs for CASZ1 Gene

Variants for CASZ1 Gene

Sequence variations from dbSNP and Humsavar for CASZ1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000005027 -- 10,675,696(-) C/A intron_variant
rs1000041809 -- 10,645,549(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000055969 -- 10,671,037(-) G/A intron_variant
rs1000065042 -- 10,772,153(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000065352 -- 10,727,503(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CASZ1 Gene

Variant ID Type Subtype PubMed ID
dgv105n54 CNV loss 21841781
dgv42e59 CNV duplication 20981092
dgv4n27 CNV loss 19166990
esv2743697 CNV deletion 23290073
esv2743708 CNV deletion 23290073
esv2743719 CNV deletion 23290073
esv2758921 CNV loss 17122850
esv29966 CNV loss 17803354
esv3435817 CNV duplication 20981092
esv3443222 CNV duplication 20981092
esv997282 CNV deletion 20482838
nsv1075150 CNV deletion 25765185
nsv1075563 CNV deletion 25765185
nsv1076090 CNV deletion 25765185
nsv1113075 CNV deletion 24896259
nsv1118100 CNV deletion 24896259
nsv1121748 CNV deletion 24896259
nsv1126176 CNV deletion 24896259
nsv1143435 CNV deletion 24896259
nsv159406 CNV insertion 16902084
nsv436924 CNV loss 16327808
nsv438081 CNV loss 16468122
nsv464949 CNV loss 19166990
nsv465172 CNV loss 19166990
nsv465283 CNV loss 19166990
nsv508858 CNV insertion 20534489
nsv525693 CNV loss 19592680
nsv545400 CNV loss 21841781
nsv545401 CNV loss 21841781
nsv545403 CNV loss 21841781
nsv545404 CNV loss 21841781
nsv545405 CNV loss 21841781
nsv818888 CNV loss 17921354
nsv828030 CNV gain 20364138
nsv828141 CNV gain 20364138
nsv828252 CNV gain 20364138
nsv828364 CNV gain 20364138
nsv832314 CNV loss 17160897
nsv8546 CNV gain 18304495
nsv953454 CNV deletion 24416366
nsv953455 CNV deletion 24416366

Variation tolerance for CASZ1 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.31; 76.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASZ1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASZ1 Gene

Disorders for CASZ1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CASZ1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retroperitoneal sarcoma
retroperitoneum carcinoma
  • carcinoma of retroperitoneum
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CASZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CASZ1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CASZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASZ1 Gene

Publications for CASZ1 Gene

  1. Molecular cloning and characterization of human Castor, a novel human gene upregulated during cell differentiation. (PMID: 16631614) Liu Z … Thiele CJ (Biochemical and biophysical research communications 2006) 2 3 4 58
  2. CASZ1 loss-of-function mutation associated with congenital heart disease. (PMID: 27693370) Huang RT … Yang YQ (Gene 2016) 3 4 58
  3. CASZ1, a candidate tumor-suppressor gene, suppresses neuroblastoma tumor growth through reprogramming gene expression. (PMID: 21252912) Liu Z … Thiele CJ (Cell death and differentiation 2011) 2 3 58
  4. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PMID: 21572416) Kato N … He J (Nature genetics 2011) 3 44 58
  5. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PMID: 20479155) Takeuchi F … Kato N (Circulation 2010) 3 44 58

Products for CASZ1 Gene

Sources for CASZ1 Gene

Loading form....