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] See more...

Aliases for CIZ1 Gene

Aliases for CIZ1 Gene

  • CDKN1A Interacting Zinc Finger Protein 1 2 3 5
  • ZNF356 2 3 4
  • LSFR1 2 3 4
  • Cip1-Interacting Zinc Finger Protein 3 4
  • Zinc Finger Protein 356 3 4
  • Nuclear Protein NP94 3 4
  • NP94 3 4
  • CDKN1A-Interacting Zinc Finger Protein 1 4
  • CIZ1 5

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 Developmental And Epileptic Encephalopathy 31 and Lennox-Gastaut Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and cyclin binding.

UniProtKB/Swiss-Prot Summary for CIZ1 Gene

Gene Wiki entry for CIZ1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CIZ1 Gene

Genomics for CIZ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CIZ1 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 CIZ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CIZ1

Top Transcription factor binding sites by QIAGEN in the CIZ1 gene promoter:
  • AP-1
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3

Genomic Locations for CIZ1 Gene

Latest Assembly
chr9:128,161,251-128,204,383
(GRCh38/hg38)
Size:
43,133 bases
Orientation:
Minus strand

Previous Assembly
chr9:130,928,344-130,966,501
(GRCh37/hg19 by Entrez Gene)
Size:
38,158 bases
Orientation:
Minus strand

chr9:130,928,343-130,966,662
(GRCh37/hg19 by Ensembl)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF37882.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys830
  • 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

Protein Domains for CIZ1 Gene

Suggested Antigen Peptide Sequences for CIZ1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79292, highly similar to Cip1-interacting zinc finger protein (B7ZAS8_HUMAN)
  • Zinc finger protein 356 (CIZ1_HUMAN)
  • CDKN1A interacting zinc finger protein 1 (Q5SYW4_HUMAN)
  • CDKN1A interacting zinc finger protein 1 (Q5SYW9_HUMAN)
  • CDKN1A interacting zinc finger protein 1 (Q5SYX4_HUMAN)
genes like me logo Genes that share domains with CIZ1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CIZ1 Gene

Function for CIZ1 Gene

Molecular function for CIZ1 Gene

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

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

Human Phenotype Ontology for CIZ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CIZ1 Gene

MGI Knock Outs for CIZ1:
  • Ciz1 Ciz1<tm1.1Homy>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIZ1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

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,IDA 23145069
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

PathCards logo

SuperPathways 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

mRNA/cDNA for CIZ1 Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIZ1

Clone products for research

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

Expression for CIZ1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for CIZ1 Gene



Protein tissue co-expression partners for CIZ1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CIZ1

SOURCE GeneReport for Unigene cluster for CIZ1 Gene:

Hs.212395

Evidence on tissue expression from TISSUES for CIZ1 Gene

  • Nervous system(4.5)
  • Lung(3.6)
  • Intestine(3.2)
  • Skin(2.8)
  • Muscle(2.8)
  • Pancreas(2.2)
  • Eye(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CIZ1: view

Primer products for research

No data available for 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 29
  • 99.58 (n)
Cow
(Bos Taurus)
Mammalia CIZ1 29 30
  • 84.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CIZ1 29 30
  • 83.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ciz1 29
  • 78.35 (n)
Mouse
(Mus musculus)
Mammalia Ciz1 29 16 30
  • 77.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CIZ1 30
  • 39 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18815 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.11783 29
Zebrafish
(Danio rerio)
Actinopterygii ciz1b 30
  • 26 (a)
OneToMany
ciz1a 30
  • 25 (a)
OneToMany
wufi27d02 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5885 30
  • 21 (a)
OneToOne
Species where no ortholog for CIZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CIZ1: view image
Alliance of Genome Resources:
Additional Orthologs for CIZ1

Paralogs for CIZ1 Gene

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

  • CIZ1_HUMAN
  • F5H2X7_HUMAN
  • F6VD24_HUMAN
  • F6WSM2_HUMAN
  • H0Y5D5_HUMAN
  • Q5SYW2_HUMAN
  • Q96KB7_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CIZ1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1010334 Uncertain Significance: Dystonia 128,190,822(-) T/TAAC
NM_001131016.2(CIZ1):c.35_36insGTT (p.Gln13_Gln14insLeu)
INFRAME_INSERTION,FIVE_PRIME_UTR
1016995 Uncertain Significance: Dystonia 128,179,224(-) G/A
NM_001131016.2(CIZ1):c.983C>T (p.Pro328Leu)
MISSENSE
1024746 Uncertain Significance: Dystonia 128,178,724(-) C/T
NM_001131016.2(CIZ1):c.1483G>A (p.Val495Ile)
MISSENSE
1036722 Uncertain Significance: Dystonia 128,180,784(-) C/T
NM_001131016.2(CIZ1):c.619G>A (p.Asp207Asn)
MISSENSE
1038491 Uncertain Significance: Epileptic encephalopathy, early infantile, 31 128,203,565(-) C/T
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CIZ1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CIZ1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CIZ1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for CIZ1 Gene - From: CVR, ORP, COP, and GCD

- 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
  2. Mutations in CIZ1 cause adult onset primary cervical dystonia. (PMID: 22447717) Xiao J … LeDoux MS (Annals of neurology 2012) 3 4 72
  3. 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
  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
  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

Products for CIZ1 Gene

Sources for CIZ1 Gene