CASZ1 Gene (Protein Coding)

Castor Zinc Finger 1

GC01M010642
GIFtS:
38
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] See more...

Aliases for CASZ1 Gene

Aliases for CASZ1 Gene

  • Castor Zinc Finger 1 2 3 5
  • Zinc Finger Protein 693 2 3 4
  • Zinc Finger Protein Castor Homolog 1 3 4
  • Castor-Related Protein 3 4
  • ZNF693 3 4
  • CST 3 4
  • SRG 3 4
  • Castor Homolog 1, Zinc Finger (Drosophila) 2
  • 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 Summary 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 , Rfam classification and piRNA Summary for CASZ1 Gene

Genomics for CASZ1 Gene

GeneHancer (GH) Regulatory Elements for CASZ1 Gene

Promoters and enhancers for CASZ1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASZ1 gene promoter:
  • AREB6
  • FOXD3
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-5
  • POU3F2
  • SRY

Genomic Locations for CASZ1 Gene

Genomic Locations for CASZ1 Gene
chr1:10,636,604-10,796,676
(GRCh38/hg38)
Size:
160,073 bases
Orientation:
Minus strand
chr1:10,696,661-10,856,707
(GRCh37/hg19)
Size:
160,047 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for CASZ1 Gene

Proteins for CASZ1 Gene

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

    Protein Symbol:
    Q86V15-CASZ1_HUMAN
    Recommended name:
    Zinc finger protein castor homolog 1
    Protein Accession:
    Q86V15
    Secondary Accessions:
    • Q078S9
    • Q2EN02
    • Q5T9S1
    • Q6ZNM8
    • Q8WX49
    • Q8WX50
    • Q9BT16
    • Q9NXC6

    Protein attributes for CASZ1 Gene

    Size:
    1759 amino acids
    Molecular mass:
    190069 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CASZ1 Gene

Protein Expression for CASZ1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CASZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASZ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASZ1 Gene

Domains & Families for CASZ1 Gene

Gene Families for CASZ1 Gene

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

Protein Domains for CASZ1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASZ1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 693 (CASZ1_HUMAN)
  • Castor zinc finger 1 (Q5T9S0_HUMAN)
genes like me logo Genes that share domains with CASZ1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CASZ1 Gene

Function for CASZ1 Gene

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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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003676 nucleic acid binding IEA --
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:
  • Casz1 Casz1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASZ1

Clone 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

Nucleus.

Subcellular locations from

COMPARTMENTS
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 4

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

PathCards logo

SuperPathways for CASZ1 Gene

No Data Available

Interacting Proteins for CASZ1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000366221 Q86V15-CASZ1_HUMAN for CASZ1 Gene via STRING IID

GPS-Prot Interaction Network for CASZ1

Gene Ontology (GO) - Biological Process for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CASZ1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CASZ1 Gene

(3) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(64) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASZ1

Clone Products

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

No ASD Table

Relevant External Links for CASZ1 Gene

GeneLoc Exon Structure for
CASZ1
ECgene alternative splicing isoforms for
CASZ1

Expression for CASZ1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CASZ1 Gene
mRNA expression by GTEx for CASZ1 GenemRNA expression by BioGPS 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:

CASZ1

SOURCE GeneReport for Unigene cluster for CASZ1 Gene:

Hs.439894

mRNA Expression by UniProt/SwissProt for CASZ1 Gene:

Q86V15-CASZ1_HUMAN
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
chimpanzee
(Pan troglodytes)
 Mammalia CASZ1 33 32
  • 98.37 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CASZ1 33 32
  • 91.32 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CASZ1 33 32
  • 90.16 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Casz1 17 33 32
  • 88.33 (n)
rat
(Rattus norvegicus)
 Mammalia Casz1 32
  • 88.14 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CASZ1 33
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CASZ1 33
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CASZ1 33 32
  • 77.89 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CASZ1 33
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia casz1 32
  • 66.37 (n)
zebrafish
(Danio rerio)
 Actinopterygii casz1 33 32
  • 70.08 (n)
 OneToOne
wufc21h10 32
fruit fly
(Drosophila melanogaster)
 Insecta cas 33
  • 25 (a)
 OneToMany
CG7512 33
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 36 (a)
 OneToMany
CSA.2018 33
  • 24 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for CASZ1 (if available)
TreeFam:
Gene Tree for CASZ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CASZ1: view image

Paralogs for CASZ1 Gene

Pseudogenes.org 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

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  1. SNP Genotyping and Copy Number Assay

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/T 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)
CASZ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASZ1

SNP Genotyping and Copy Number Assay Products

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

Disorders for CASZ1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CASZ1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retroperitoneal sarcoma
retroperitoneum carcinoma
  • carcinoma of retroperitoneum
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
neuroblastoma 1
  • neuroblastoma, susceptibility to, 1
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 56
  2. CASZ1 loss-of-function mutation associated with congenital heart disease. (PMID: 27693370) Huang RT … Yang YQ (Gene 2016) 3 4 56
  3. 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 43 56
  4. 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 56
  5. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PMID: 20479155) Takeuchi F … Kato N (Circulation 2010) 3 43 56

ExternalLinks

View latest publications for CASZ1 gene in Mastermind

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