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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 Dystonia 23. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CIZ1 Gene

Promoters and enhancers for CIZ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I128190 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 577.8 +12.2 12228 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 CIZ1 DNM1 SNORA65 NUP188 GOLGA2 URM1 ZNF79 NAIF1 GLE1 SPOUT1
GH09I128203 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 460 2.3 HDGF ARNT SIN3A ZNF2 E2F8 ZNF207 ZNF143 SP3 REST SMARCB1 DNM1 CIZ1 GLE1 NUP188 NAIF1 URM1 LOC105376285
GH09I128722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.5 -520.0 -520000 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZDHHC12 LOC100506100 NUP188 NAIF1 GLE1 ODF2 CIZ1 GOLGA2 PKN3 TBC1D13
GH09I129172 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.5 -971.4 -971377 7.5 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC PPARGC1A SSRP1 IER5L ENSG00000268050 LOC105376289 CRAT NUP188 CIZ1 ODF2 GLE1 TOR1A SPOUT1
GH09I128339 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.2 -136.3 -136276 2.1 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC27A4 TRR-TCT3-1 TMSB4XP4 ZNF79 NUP188 NAIF1 SNORA65 GLE1 CIZ1 RPL12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CIZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CIZ1 gene promoter:

Genomic Locations for CIZ1 Gene

Genomic Locations for CIZ1 Gene
chr9:128,166,064-128,204,383
(GRCh38/hg38)
Size:
38,320 bases
Orientation:
Minus strand
chr9:130,928,343-130,966,662
(GRCh37/hg19)

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

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

Clone Products

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 TAS,IEA 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:

Clone Products

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

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 Variation AA Info Type
rs114440041 benign, Dystonia 128,180,498(-) C/T coding_sequence_variant, synonymous_variant
rs11549260 benign, Dystonia 128,166,354(-) C/T coding_sequence_variant, missense_variant
rs11549263 benign, Dystonia 128,178,842(-) T/C coding_sequence_variant, synonymous_variant
rs12334 benign, Dystonia 128,177,651(-) G/A coding_sequence_variant, missense_variant
rs142432944 likely-benign, not specified, Epileptic encephalopathy, early infantile, 31 128,203,587(-) C/T genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
cervical dystonia
  • spasmodic torticollis
dystonia 23
  • dyt23
torticollis
focal dystonia
  • focal task specific dystonia
segmental dystonia
- 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.

Additional Disease Information for 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 58
  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 58
  3. Mutations in CIZ1 cause adult onset primary cervical dystonia. (PMID: 22447717) Xiao J … LeDoux MS (Annals of neurology 2012) 3 4 58
  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 58
  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 58

Products for CIZ1 Gene

Sources for CIZ1 Gene

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