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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.

UniProtKB/Swiss-Prot for CASZ1 Gene

  • Transcription factor involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7.

Gene Wiki entry for CASZ1 Gene

No data available for 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
GH01F010790 2.9 VISTA FANTOM5 ENCODE 4.8 +2.9 2867 6.4 PKNOX1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF548 SP3 REST MIER3 ANGPTL7 ENSG00000226849 EXOSC10 CASZ1 GC01P010673
GH01F010662 3.1 VISTA FANTOM5 Ensembl ENCODE 1.6 +120.1 120133 28.1 PKNOX1 ZFP64 ARID4B FEZF1 DMAP1 ZNF2 FOS ZNF263 SP5 NFYC ENSG00000226849 EXOSC10 C1orf127 PGD RBP7 CASZ1 GC01P010673
GH01F010865 2.6 VISTA FANTOM5 Ensembl ENCODE 1.8 -69.8 -69797 2.7 CTCF KLF1 MAX RAD21 ZNF121 ZFHX2 EGR1 ZNF366 PATZ1 SCRT2 CASZ1 GC01P010865 HSPE1P24
GH01F010755 1.3 FANTOM5 Ensembl ENCODE 3.5 +40.5 40518 2.3 SOX13 BCOR KLF1 ZFP64 KLF17 MAX ZMYM3 SIN3A ZIC2 ZFHX2 CASZ1 GC01P010673
GH01F010789 0.7 FANTOM5 5 +6.8 6759 0.3 ZNF223 ZIC2 GLIS2 ZNF366 GLIS1 PATZ1 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
ENSR00000530561 1476 3601 PKNOX1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF548 SP3 REST MIER3

Genomic Location for CASZ1 Gene

Chromosome:
1
Start:
10,636,604 bp from pter
End:
10,796,676 bp from pter
Size:
160,073 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 StructureGene Density

RefSeq DNA sequence for CASZ1 Gene

Proteins for CASZ1 Gene

  • 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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASZ1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86V15

UniProtKB/Swiss-Prot:

CASZ1_HUMAN :
  • Contains 8 C2H2-type zinc fingers.
Similarity:
  • Contains 8 C2H2-type zinc fingers.
genes like me logo Genes that share domains with CASZ1: view

Function for CASZ1 Gene

Molecular function for CASZ1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7.

Gene Ontology (GO) - Molecular Function for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA --
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

Inhibitory RNA Products

Flow Cytometry 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

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 5

Gene Ontology (GO) - Cellular Components for CASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm 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,IBA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development IBA --
GO:0045664 regulation of neuron differentiation IBA --
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

Transcripts for CASZ1 Gene

Unigene Clusters for CASZ1 Gene

Castor zinc finger 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

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.
genes like me logo Genes that share expression patterns with CASZ1: view

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 34 35
  • 98.37 (n)
cow
(Bos Taurus)
Mammalia CASZ1 34 35
  • 91.32 (n)
dog
(Canis familiaris)
Mammalia CASZ1 34 35
  • 90.16 (n)
mouse
(Mus musculus)
Mammalia Casz1 34 16 35
  • 88.33 (n)
rat
(Rattus norvegicus)
Mammalia Casz1 34
  • 88.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CASZ1 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASZ1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASZ1 34 35
  • 77.89 (n)
lizard
(Anolis carolinensis)
Reptilia CASZ1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia casz1 34
  • 66.37 (n)
zebrafish
(Danio rerio)
Actinopterygii casz1 34 35
  • 70.08 (n)
wufc21h10 34
fruit fly
(Drosophila melanogaster)
Insecta cas 35
  • 25 (a)
OneToMany
CG7512 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
CSA.2018 35
  • 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)

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

Sequence variations from dbSNP and Humsavar for CASZ1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10157038 -- 10,652,408(+) gcacc(C/T)ggctt intron-variant
rs10157896 -- 10,780,336(+) CAGGA(C/G)AGAAC intron-variant
rs10864469 -- 10,765,277(+) AAGAT(A/C)AGCCC intron-variant
rs10864470 -- 10,771,351(+) TTCCC(C/T)GCTGT intron-variant
rs10864471 -- 10,789,588(+) CCTTC(A/G)CTCTC intron-variant

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

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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASZ1

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

Disorders for CASZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASZ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • 1p36 deletion syndrome
- 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)
CASZ1
Human Genome Epidemiology (HuGE) Navigator
CASZ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASZ1
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, 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
  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. (Nat. Genet. 2011) 3 46 64
  4. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PMID: 20479155) Takeuchi F. … Kato N. (Circulation 2010) 3 46 64
  5. Genome-wide association study of blood pressure and hypertension. (PMID: 19430479) Levy D. … van Duijn C.M. (Nat. Genet. 2009) 3 46 64

Products for CASZ1 Gene

Sources for CASZ1 Gene

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