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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 Chromosome 1P36 Deletion Syndrome and Retroperitoneal Sarcoma.

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

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

Genomics for CASZ1 Gene

Regulatory Elements for CASZ1 Gene

Enhancers for CASZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G010790 3.2 VISTA FANTOM5 ENCODE dbSUPER 4.8 +2.9 2867 6.4 PKNOX1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF548 SP3 REST ZNF662 ANGPTL7 DFFA ENSG00000226849 EXOSC10 FBXO44 CASZ1 GC01P010673
GH01G010755 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.5 +40.5 40518 2.3 BCOR SOX13 KLF1 ZFP64 SIN3A ZMYM3 KLF17 MAX ZIC2 ZFHX2 CASZ1 GC01P010673
GH01G010662 3.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 1.6 +120.2 120178 28.0 FOXA2 PKNOX1 ZFP64 ARID4B DMAP1 FEZF1 ZNF2 FOS ZNF263 SP5 EXOSC10 ENSG00000226849 C1orf127 DFFA PGD RBP7 CASZ1 GC01P010673
GH01G010865 2.6 VISTA FANTOM5 Ensembl ENCODE 1.8 -69.8 -69776 2.6 RB1 RAD21 ZNF121 EGR1 ZNF366 SCRT2 EGR2 GATAD2B REST ZNF398 CASZ1 GC01P010865 HSPE1P24
GH01G010789 0.9 FANTOM5 dbSUPER 5 +6.8 6759 0.3 ZNF223 ZIC2 PRDM6 GLIS2 ZNF366 PATZ1 GLIS1 TRIM28 ZNF423 ANGPTL7 CASZ1 GC01P010673
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASZ1 on UCSC Golden Path with GeneCards custom track

Promoters for CASZ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000250215 376 1401 ARID4B SIN3A ZNF48 YY1 GLIS2 KLF7 SP3 MIER3 ZNF610 GLIS1

Genomic Location for CASZ1 Gene

10,636,604 bp from pter
10,796,676 bp from pter
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CASZ1 Gene

Domains & Families for CASZ1 Gene

Gene Families for CASZ1 Gene

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).

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

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

Primer Products

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 34 35
  • 98.37 (n)
(Bos Taurus)
Mammalia CASZ1 34 35
  • 91.32 (n)
(Canis familiaris)
Mammalia CASZ1 34 35
  • 90.16 (n)
(Mus musculus)
Mammalia Casz1 34 16 35
  • 88.33 (n)
(Rattus norvegicus)
Mammalia Casz1 34
  • 88.14 (n)
(Ornithorhynchus anatinus)
Mammalia CASZ1 35
  • 81 (a)
(Monodelphis domestica)
Mammalia CASZ1 35
  • 67 (a)
(Gallus gallus)
Aves CASZ1 34 35
  • 77.89 (n)
(Anolis carolinensis)
Reptilia CASZ1 35
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia casz1 34
  • 66.37 (n)
(Danio rerio)
Actinopterygii casz1 34 35
  • 70.08 (n)
wufc21h10 34
fruit fly
(Drosophila melanogaster)
Insecta cas 35
  • 25 (a)
CG7512 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
CSA.2018 35
  • 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 Sequence Context AA Info Type
rs1000005027 -- 10,675,696(+) CTACC(A/C)CTGCC intron-variant
rs1000041809 -- 10,645,549(+) CTGCC(C/T)TTAGT intron-variant
rs1000055969 -- 10,671,037(+) TGGGG(A/G)GCATG intron-variant
rs1000065042 -- 10,772,153(+) CTCTG(A/G)TTGCC intron-variant
rs1000065352 -- 10,727,503(+) CCACC(C/T)TCTGA 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)

Relevant External Links 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: DISEASES and GeneCards

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

Relevant External Links for CASZ1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 C.J. (Biochem. Biophys. Res. Commun. 2006) 2 3 4 64
  2. CASZ1 loss-of-function mutation associated with congenital heart disease. (PMID: 27693370) Huang R.T. … Yang Y.Q. (Gene 2016) 3 4 64
  3. CASZ1, a candidate tumor-suppressor gene, suppresses neuroblastoma tumor growth through reprogramming gene expression. (PMID: 21252912) Liu Z. … Thiele C.J. (Cell Death Differ. 2011) 2 3 64
  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. (Nat. Genet. 2011) 3 46 64
  5. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PMID: 20479155) Takeuchi F. … Kato N. (Circulation 2010) 3 46 64

Products for CASZ1 Gene

Sources for CASZ1 Gene

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