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Aliases for CIZ1 Gene

Aliases for CIZ1 Gene

  • CDKN1A Interacting Zinc Finger Protein 1 2 3 5
  • Zinc Finger Protein 356 3 4
  • Nuclear Protein NP94 3 4
  • ZNF356 3 4
  • LSFR1 3 4
  • NP94 3 4
  • CDKN1A-Interacting Zinc Finger Protein 1 4
  • Cip1-Interacting Zinc Finger Protein 3

External Ids for CIZ1 Gene

Previous GeneCards Identifiers for CIZ1 Gene

  • GC09M122043
  • GC09M122574
  • GC09M124382
  • GC09M126304
  • GC09M128007
  • GC09M129968
  • GC09M130929
  • GC09M100541

Summaries for CIZ1 Gene

Entrez Gene Summary for CIZ1 Gene

  • The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for CIZ1 Gene

CIZ1 (CDKN1A Interacting Zinc Finger Protein 1) is a Protein Coding gene. Diseases associated with CIZ1 include Cervical Dystonia and Focal Dystonia. GO annotations related to this gene include nucleic acid binding and cyclin binding.

UniProtKB/Swiss-Prot for CIZ1 Gene

  • May regulate the subcellular localization of CIP/WAF1.

Gene Wiki entry for CIZ1 Gene

Additional gene information for CIZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIZ1 Gene

Genomics for CIZ1 Gene

Regulatory Elements for CIZ1 Gene

Enhancers for CIZ1 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
GH09H129172 1.8 FANTOM5 ENCODE dbSUPER 28.5 -971.4 -971377 7 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A SSRP1 ZNF610 GLIS1 NUP188 CIZ1 ODF2 GLE1 CRAT SPOUT1 UBE2V1P4 TOR1A LOC101929270 GOLGA2
GH09H128837 1 ENCODE 50.3 -634.0 -633985 1 FOXA2 ZNF493 ZFP64 ARID4B GLIS2 ZNF202 SP5 ZC3H11A REST PPARG NUP188 SPOUT1 ODF2 CIZ1 GOLGA2 URM1 GLE1 LOC101929314 NAIF1 SWI5
GH09H128190 1.3 ENCODE dbSUPER 37.7 +12.2 12228 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF143 CIZ1 NUP188 CDK9 SPOUT1 SNORA65 GOLGA2 ODF2 URM1 PKN3 LOC102723566
GH09H128770 1.2 ENCODE 29.3 -567.2 -567233 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 CIZ1 CDK9 ENSG00000272696 SPOUT1 NUP188 SPTAN1 LOC101929314 CERCAM LOC101929270 DNM1
GH09H128339 1.1 ENCODE 31.3 -136.3 -136276 2 HDGF HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF79 NUP188 NAIF1 GLE1 SLC27A4 CIZ1 SNORA65 ODF2 RPL12 LOC101929314
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CIZ1 on UCSC Golden Path with GeneCards custom track

Promoters for CIZ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241835 683 1401 HDGF ARNT SIN3A ZNF2 ZNF207 ZNF143 SP3 REST SMARCB1 ZNF592

Genomic Location for CIZ1 Gene

Chromosome:
9
Start:
128,166,064 bp from pter
End:
128,204,383 bp from pter
Size:
38,320 bases
Orientation:
Minus strand

Genomic View for CIZ1 Gene

Genes around CIZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIZ1 Gene

Proteins for CIZ1 Gene

  • Protein details for CIZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULV3-CIZ1_HUMAN
    Recommended name:
    Cip1-interacting zinc finger protein
    Protein Accession:
    Q9ULV3
    Secondary Accessions:
    • A8K9J8
    • B4E131
    • B7ZAS8
    • Q5SYW3
    • Q5SYW5
    • Q8WU72
    • Q9H868
    • Q9NYM8
    • Q9UHK4
    • Q9Y3F9
    • Q9Y3G0

    Protein attributes for CIZ1 Gene

    Size:
    898 amino acids
    Molecular mass:
    100045 Da
    Quaternary structure:
    • Interacts with CIP/WAF1.
    SequenceCaution:
    • Sequence=AAF23231.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF37882.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CIZ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIZ1 Gene

Post-translational modifications for CIZ1 Gene

  • Ubiquitination at posLast=830830
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CIZ1 Gene

Domains & Families for CIZ1 Gene

Gene Families for CIZ1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CIZ1: view

No data available for UniProtKB/Swiss-Prot for CIZ1 Gene

Function for CIZ1 Gene

Molecular function for CIZ1 Gene

GENATLAS Biochemistry:
CIP1 (CDKN1A interacting zinc finger protein 1,linked to surfeit gene in Fugu rubripes homolog 1
UniProtKB/Swiss-Prot Function:
May regulate the subcellular localization of CIP/WAF1.

Phenotypes From GWAS Catalog for CIZ1 Gene

Gene Ontology (GO) - Molecular Function for CIZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 18654987
GO:0008270 zinc ion binding IEA --
GO:0030332 cyclin binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CIZ1: view
genes like me logo Genes that share phenotypes with CIZ1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CIZ1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CIZ1 Gene

Localization for CIZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIZ1 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 CIZ1 gene
Compartment Confidence
nucleus 5
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CIZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 10529385
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CIZ1: view

Pathways & Interactions for CIZ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CIZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032298 positive regulation of DNA-dependent DNA replication initiation IEA --
GO:0051457 maintenance of protein location in nucleus IEA --
genes like me logo Genes that share ontologies with CIZ1: view

No data available for Pathways by source and SIGNOR curated interactions for CIZ1 Gene

Drugs & Compounds for CIZ1 Gene

No Compound Related Data Available

Transcripts for CIZ1 Gene

Unigene Clusters for CIZ1 Gene

CDKN1A interacting zinc finger protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CIZ1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CIZ1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^
SP1: - - - - - - - -
SP2:
SP3: -
SP4: - -
SP5: - - - -
SP6: -
SP7: - - - -
SP8: - - - - -
SP9:
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15: - - -
SP16: -
SP17:

ExUns: 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c
SP1: - - - - - - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for CIZ1 Gene

GeneLoc Exon Structure for
CIZ1
ECgene alternative splicing isoforms for
CIZ1

Expression for CIZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CIZ1 Gene

Protein differential expression in normal tissues from HIPED for CIZ1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.8), CD8 Tcells (10.9), Pancreas (8.3), Testis (6.6), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CIZ1 Gene



Protein tissue co-expression partners for CIZ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CIZ1 Gene:

CIZ1

SOURCE GeneReport for Unigene cluster for CIZ1 Gene:

Hs.212395

Evidence on tissue expression from TISSUES for CIZ1 Gene

  • Nervous system(4.4)
  • Lung(3.3)
  • Intestine(2.9)
  • Skin(2.4)
  • Muscle(2.3)
  • Pancreas(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with CIZ1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIZ1 Gene

Orthologs for CIZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CIZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIZ1 33
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia CIZ1 33 34
  • 84.51 (n)
dog
(Canis familiaris)
Mammalia CIZ1 33 34
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Ciz1 33
  • 78.35 (n)
mouse
(Mus musculus)
Mammalia Ciz1 33 16 34
  • 77.86 (n)
lizard
(Anolis carolinensis)
Reptilia CIZ1 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11783 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18815 33
zebrafish
(Danio rerio)
Actinopterygii ciz1b 34
  • 26 (a)
OneToMany
ciz1a 34
  • 25 (a)
OneToMany
wufi27d02 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5885 34
  • 21 (a)
OneToOne
Species where no ortholog for CIZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CIZ1 Gene

ENSEMBL:
Gene Tree for CIZ1 (if available)
TreeFam:
Gene Tree for CIZ1 (if available)

Paralogs for CIZ1 Gene

(1) SIMAP similar genes for CIZ1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CIZ1: view

No data available for Paralogs for CIZ1 Gene

Variants for CIZ1 Gene

Sequence variations from dbSNP and Humsavar for CIZ1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs869312702 Pathogenic 128,203,609(+) GCTCG(A/G)TGCTC intron-variant, nc-transcript-variant, reference, missense
rs397514566 Uncertain significance 128,180,416(-) TGAGG(A/G)GGTAA reference, missense
rs41276236 Benign 128,169,142(+) ACAGC(A/G)TCCAC reference, synonymous-codon
rs61740197 Benign 128,179,037(+) TGCAC(A/C)TGCCT intron-variant, reference, missense
rs1000018120 -- 128,172,112(+) CACTA(C/G)GCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CIZ1 Gene

Variant ID Type Subtype PubMed ID
esv3621804 CNV loss 21293372
esv3621805 CNV loss 21293372
nsv1132224 CNV deletion 24896259

Variation tolerance for CIZ1 Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CIZ1 Gene

Human Gene Mutation Database (HGMD)
CIZ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIZ1 Gene

Disorders for CIZ1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CIZ1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cervical dystonia
  • spasmodic torticollis
focal dystonia
  • focal hand dystonia
segmental dystonia
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search CIZ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CIZ1_HUMAN
  • Note=Defects in CIZ1 may be a cause of adult onset primary cervical dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Cervical dystonia or spasmodic torticollis, the most common form of focal dystonia, is characterized by involuntary contractions of the neck muscles, which produce abnormal posturing of the head upon the trunk.

Relevant External Links for CIZ1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIZ1
genes like me logo Genes that share disorders with CIZ1: view

No data available for Genatlas for CIZ1 Gene

Publications for CIZ1 Gene

  1. Cloning and characterization of a novel p21(Cip1/Waf1)-interacting zinc finger protein, ciz1. (PMID: 10529385) Mitsui K … Yoshimura A (Biochemical and biophysical research communications 1999) 2 3 4 22 60
  2. Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus DNA sequence ARYSR(0-2)YYAC. (PMID: 12824700) Warder DE … Keherly MJ (Journal of biomedical science 2003) 3 4 22 60
  3. Mutations in CIZ1 cause adult onset primary cervical dystonia. (PMID: 22447717) Xiao J … LeDoux MS (Annals of neurology 2012) 3 4 60
  4. Altered splicing in exon 8 of the DNA replication factor CIZ1 affects subnuclear distribution and is associated with Alzheimer's disease. (PMID: 18583151) Dahmcke CM … Mitchelmore C (Molecular and cellular neurosciences 2008) 3 22 60
  5. Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1. (PMID: 17508423) Rahman F … Coverley D (Human mutation 2007) 3 22 60

Products for CIZ1 Gene

Sources for CIZ1 Gene

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