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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

No data available for 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
GH09F128174 1 ENCODE 28 +28.2 28151 4.4 PKNOX1 SIN3A ZNF2 GLIS2 FOS DEK ZNF263 ZNF623 SREBF1 GLIS1 CIZ1 NAIF1 SLC25A25 GC09P128173 DNM1
GH09F128096 1.4 Ensembl ENCODE 15.7 +103.5 103510 9.0 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 NAIF1 PTGES2 CIZ1 ZNF79 PTGES2-AS1 SLC25A25-AS1 SLC25A25 LCN2 C9orf16 DNM1
GH09F128190 1.1 ENCODE 19.4 +12.2 12228 3.7 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF207 ZNF143 FOS CIZ1 SNORA65 SPOUT1 CDK9 ENG LOC102723566 RPL12 COQ4 URM1 DNM1
GH09F127962 1.8 FANTOM5 Ensembl ENCODE 10 +231.0 231036 22.2 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 PIP5KL1 DPM2 SPOUT1 LOC101929270 LOC105376284 SLC25A25 NAIF1 ENSG00000230848 CDK9 PTRH1
GH09F128143 1.4 FANTOM5 Ensembl ENCODE 11.3 +59.5 59459 2.9 CTCF TBL1XR1 TAL1 SIN3A BACH1 RAD21 ZIC2 TEAD3 ZNF316 GATA3 ZNF79 CIZ1 C9orf16 PIP5KL1 PTGES2 SLC27A4 LCN2 PTGES2-AS1
- 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
ENSR00001475263 583 1601 HDGF ATF1 ARNT CREB3L1 SIN3A ZNF2 ETS1 GLIS2 ZNF207 ZNF143

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 Lys 830
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CIZ1 Gene

Domains & Families for CIZ1 Gene

Protein Domains for CIZ1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULV3

UniProtKB/Swiss-Prot:

CIZ1_HUMAN :
  • Contains 1 matrin-type zinc finger.
Similarity:
  • Contains 1 matrin-type zinc finger.
genes like me logo Genes that share domains with CIZ1: view

No data available for Gene Families 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.

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

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for CIZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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

Transcripts for CIZ1 Gene

Unigene Clusters for CIZ1 Gene

CDKN1A interacting zinc finger protein 1:
Representative Sequences:

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 34
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia CIZ1 34 35
  • 84.51 (n)
dog
(Canis familiaris)
Mammalia CIZ1 34 35
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Ciz1 34
  • 78.35 (n)
mouse
(Mus musculus)
Mammalia Ciz1 34 16 35
  • 77.86 (n)
lizard
(Anolis carolinensis)
Reptilia CIZ1 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11783 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.18815 34
zebrafish
(Danio rerio)
Actinopterygii ciz1b 35
  • 26 (a)
OneToMany
ciz1a 35
  • 25 (a)
OneToMany
wufi27d02 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5885 35
  • 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
rs10115483 -- 128,194,858(+) TGTCT(C/T)CCAGT 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)

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

(3) MalaCards diseases for CIZ1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cervical dystonia
  • spasmodic 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.

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. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  2. Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus DNA sequence ARYSR(0-2)YYAC. (PMID: 12824700) Warder D.E. … Keherly M.J. (J. Biomed. Sci. 2003) 3 4 22 64
  3. Mutations in CIZ1 cause adult onset primary cervical dystonia. (PMID: 22447717) Xiao J. … Ledoux M.S. (Ann. Neurol. 2012) 3 4 64
  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 C.M. … Mitchelmore C. (Mol. Cell. Neurosci. 2008) 3 22 64
  5. Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1. (PMID: 17508423) Rahman F. … Coverley D. (Hum. Mutat. 2007) 3 22 64

Products for CIZ1 Gene

Sources for CIZ1 Gene

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