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Aliases for ZIC1 Gene

Aliases for ZIC1 Gene

  • Zic Family Member 1 2 3 5
  • Zic Family Member 1 (Odd-Paired Homolog, Drosophila) 2 3
  • Zinc Finger Protein Of The Cerebellum 1 3 4
  • Zinc Finger Protein 201 3 4
  • ZNF201 3 4
  • ZIC 3 4
  • Zic Family Member 1 (Odd-Paired Drosophila Homolog) 2
  • Zinc Finger Protein ZIC 1 3
  • CRS6 3

External Ids for ZIC1 Gene

Previous GeneCards Identifiers for ZIC1 Gene

  • GC03P143961
  • GC03P148012
  • GC03P148408
  • GC03P148448
  • GC03P148609
  • GC03P147111
  • GC03P144503

Summaries for ZIC1 Gene

Entrez Gene Summary for ZIC1 Gene

  • This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZIC1 Gene

ZIC1 (Zic Family Member 1) is a Protein Coding gene. Diseases associated with ZIC1 include Craniosynostosis 6 and Isolated Oxycephaly. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZIC2.

UniProtKB/Swiss-Prot for ZIC1 Gene

  • Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5-TGGGTGGTC-3 (By similarity).

Gene Wiki entry for ZIC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZIC1 Gene

Genomics for ZIC1 Gene

Regulatory Elements for ZIC1 Gene

Enhancers for ZIC1 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
GH03F147418 1.3 FANTOM5 Ensembl ENCODE 38.3 +26.0 25963 0.9 RNF2 ZBTB2 L3MBTL2 SUZ12 NRF1 BHLHE40 MAX CBX2 CBX8 POLR2A ZIC1 ZIC4 ZIC4-AS1 ENSG00000243620 LOC440982
GH03F147424 0.5 FANTOM5 28.1 +31.1 31100 0.2 RNF2 CBX2 CTBP2 EZH2 ZIC1 ZIC4-AS1 ZIC4 ENSG00000243620 LOC440982 NPM1P28
GH03F147420 0.8 FANTOM5 20 +26.8 26799 0.2 RNF2 CBX2 EZH2 ZIC1 ZIC4 ZIC4-AS1 ENSG00000243620 LOC440982
GH03F147413 0.4 Ensembl 12.6 +20.4 20368 0.4 SUZ12 RNF2 CBX2 BMI1 EZH2 ZIC1 ENSG00000243620 ZIC4 LOC440982
GH03F146975 1.3 FANTOM5 8 -417.8 -417806 0.2 ZIC4 ZIC1 GC03M146997 RNU6-505P LINC02010
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZIC1 on UCSC Golden Path with GeneCards custom track

Promoters for ZIC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001376131 78 2601 CTCF PKNOX1 SUZ12 SIN3A RAD21 YY1 POLR2A HNF4G EZH2 RFX1

Genomic Location for ZIC1 Gene

Chromosome:
3
Start:
147,393,422 bp from pter
End:
147,510,293 bp from pter
Size:
116,872 bases
Orientation:
Plus strand

Genomic View for ZIC1 Gene

Genes around ZIC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZIC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZIC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZIC1 Gene

Proteins for ZIC1 Gene

  • Protein details for ZIC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15915-ZIC1_HUMAN
    Recommended name:
    Zinc finger protein ZIC 1
    Protein Accession:
    Q15915
    Secondary Accessions:
    • Q2M3N1

    Protein attributes for ZIC1 Gene

    Size:
    447 amino acids
    Molecular mass:
    48309 Da
    Quaternary structure:
    • Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5). Interacts with GLI1; the interaction enhances transcription activation. Interacts with GLI2. Interacts with GLI3; the interaction enhances transcription activation (By similarity).

neXtProt entry for ZIC1 Gene

Post-translational modifications for ZIC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZIC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ZIC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ZIC1

No data available for DME Specific Peptides for ZIC1 Gene

Domains & Families for ZIC1 Gene

Gene Families for ZIC1 Gene

Protein Domains for ZIC1 Gene

Suggested Antigen Peptide Sequences for ZIC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15915

UniProtKB/Swiss-Prot:

ZIC1_HUMAN :
  • The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
  • Belongs to the GLI C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZIC1: view

Function for ZIC1 Gene

Molecular function for ZIC1 Gene

GENATLAS Biochemistry:
zinc finger protein of the cerebellum,mouse Zic homolog,potential marker for medulloblastoma and cellular granular cell lineage
UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5-TGGGTGGTC-3 (By similarity).

Gene Ontology (GO) - Molecular Function for ZIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 8542595
genes like me logo Genes that share ontologies with ZIC1: view
genes like me logo Genes that share phenotypes with ZIC1: view

Human Phenotype Ontology for ZIC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZIC1 Gene

MGI Knock Outs for ZIC1:

Animal Model Products

Transcription Factor Targets for ZIC1 Gene

Selected GeneGlobe predicted Target genes for ZIC1
Targeted motifs for ZIC1 Gene
HOMER Transcription Factor Regulatory Elements motif ZIC1
  • Consensus sequence: CCTGCTGAGH Submotif: canonical Cell Type: Cerebellum GEO ID: GSE60731

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) for ZIC1 Gene

Localization for ZIC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZIC1 Gene

Nucleus. Cytoplasm. Note=Localizes in the cytoplasm in presence of MDFIC overexpression. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZIC1 Gene COMPARTMENTS Subcellular localization image for ZIC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ZIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 8542595
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ZIC1: view

Pathways & Interactions for ZIC1 Gene

SuperPathways for ZIC1 Gene

SuperPathway Contained pathways
1 Neural Crest Differentiation
genes like me logo Genes that share pathways with ZIC1: view

Pathways by source for ZIC1 Gene

1 BioSystems pathway for ZIC1 Gene

SIGNOR curated interactions for ZIC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ZIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
GO:0007389 pattern specification process IEA,ISS --
genes like me logo Genes that share ontologies with ZIC1: view

Drugs & Compounds for ZIC1 Gene

(1) Drugs for ZIC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZIC1: view

Transcripts for ZIC1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZIC1 Gene

No ASD Table

Relevant External Links for ZIC1 Gene

GeneLoc Exon Structure for
ZIC1
ECgene alternative splicing isoforms for
ZIC1

Expression for ZIC1 Gene

mRNA expression in normal human tissues for ZIC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZIC1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x24.4) and Brain - Cerebellum (x18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZIC1 Gene



Protein tissue co-expression partners for ZIC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZIC1 Gene:

ZIC1

SOURCE GeneReport for Unigene cluster for ZIC1 Gene:

Hs.598590

mRNA Expression by UniProt/SwissProt for ZIC1 Gene:

Q15915-ZIC1_HUMAN
Tissue specificity: CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other tumors examined.
genes like me logo Genes that share expression patterns with ZIC1: view

Primer Products

No data available for Protein differential expression in normal tissues for ZIC1 Gene

Orthologs for ZIC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZIC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZIC1 34 35
  • 99.85 (n)
cow
(Bos Taurus)
Mammalia ZIC1 34 35
  • 93.3 (n)
oppossum
(Monodelphis domestica)
Mammalia ZIC1 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zic1 34
  • 91.2 (n)
mouse
(Mus musculus)
Mammalia Zic1 34 16 35
  • 90.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZIC1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZIC1 34 35
  • 81.98 (n)
lizard
(Anolis carolinensis)
Reptilia ZIC1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zic1 34
  • 78.81 (n)
Str.17224 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1796 34
zebrafish
(Danio rerio)
Actinopterygii zic1 34 35
  • 76.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta opa 36 35
  • 66 (a)
lmd 36
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
ManyToMany
Species where no ortholog for ZIC1 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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 ZIC1 Gene

ENSEMBL:
Gene Tree for ZIC1 (if available)
TreeFam:
Gene Tree for ZIC1 (if available)

Paralogs for ZIC1 Gene

Variants for ZIC1 Gene

Sequence variations from dbSNP and Humsavar for ZIC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_075867 Craniosynostosis 6 (CRS6) [MIM:616602]
rs10662843 -- 147,415,880(+) CTGTT(-/AG)TCAAC utr-variant-3-prime
rs111471833 -- 147,416,117(+) CCCCA(A/G)TTGGT utr-variant-3-prime
rs111509390 -- 147,411,271(+) GGAAA(-/AC)ACACA intron-variant
rs111736391 -- 147,415,469(+) GCTGC(A/G)CTGGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ZIC1 Gene

Variant ID Type Subtype PubMed ID
nsv822285 CNV gain 20364138
nsv954489 CNV deletion 24416366

Variation tolerance for ZIC1 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZIC1 Gene

Human Gene Mutation Database (HGMD)
ZIC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZIC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZIC1 Gene

Disorders for ZIC1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ZIC1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis 6
  • crs6
isolated oxycephaly
  • acrocephaly
isolated brachycephaly
  • non-syndromic bicoronal synostosis
isolated plagiocephaly
  • craniosynostosis
zic1-related craniosynostosis
  • craniosynostosis 6
- elite association - COSMIC cancer census association via MalaCards
Search ZIC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZIC1_HUMAN
  • Craniosynostosis 6 (CRS6) [MIM:616602]: A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:26340333}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZIC1

Genetic Association Database (GAD)
ZIC1
Human Genome Epidemiology (HuGE) Navigator
ZIC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZIC1
genes like me logo Genes that share disorders with ZIC1: view

No data available for Genatlas for ZIC1 Gene

Publications for ZIC1 Gene

  1. Predominant expression of human zic in cerebellar granule cell lineage and medulloblastoma. (PMID: 8542595) Yokota N. … Mikoshiba K. (Cancer Res. 1996) 2 3 4 22 64
  2. Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans. (PMID: 14679585) Klootwijk R. … Franke B. (Am. J. Med. Genet. A 2004) 3 22 46 64
  3. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. (PMID: 26340333) Twigg S.R. … Wilkie A.O. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Expression of ZIC family genes in meningiomas and other brain tumors. (PMID: 20199689) Aruga J. … Yokota N. (BMC Cancer 2010) 3 22 64
  5. ZIC1 is downregulated through promoter hypermethylation in gastric cancer. (PMID: 19135984) Wang L.J. … Sung J.J. (Biochem. Biophys. Res. Commun. 2009) 3 22 64

Products for ZIC1 Gene

Sources for ZIC1 Gene

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