Human Gene ZIC1 (ENST00000282928.5_4) from GENCODE V47lift37
  Description: Zic family member 1 (from RefSeq NM_003412.4)
Gencode Transcript: ENST00000282928.5_4
Gencode Gene: ENSG00000152977.10_7
Transcript (Including UTRs)
   Position: hg19 chr3:147,127,152-147,134,506 Size: 7,355 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr3:147,127,900-147,131,338 Size: 3,439 Coding Exon Count: 3 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:147,127,152-147,134,506)mRNA (may differ from genome)Protein (447 aa)
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-  Comments and Description Text from UniProtKB
  ID: ZIC1_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein ZIC 1; AltName: Full=Zinc finger protein 201; AltName: Full=Zinc finger protein of the cerebellum 1;
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).
SUBUNIT: 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).
SUBCELLULAR LOCATION: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC overexpression (By similarity).
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.
DOMAIN: The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation (By similarity).
SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family.
SIMILARITY: Contains 5 C2H2-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZIC1
Diseases sorted by gene-association score: craniosynostosis 6* (1228), zic1-related craniosynostosis* (500), isolated oxycephaly* (350), isolated brachycephaly* (350), isolated plagiocephaly* (350), medulloblastoma (22), isolated dandy-walker malformation without hydrocephalus* (18), isolated dandy-walker malformation with hydrocephalus* (18), diffuse meningeal melanocytosis (16), cerebellar disease (13), paraneoplastic neurologic disorders (13), craniosynostosis (12), holoprosencephaly (11), neural tube defects (11), spina bifida occulta (9), blepharophimosis, epicanthus inversus, and ptosis, type 1 (9), paraneoplastic cerebellar degeneration (6), central nervous system melanocytic neoplasm (6), learning disability (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 183.57 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 366.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -332.20748-0.444 Picture PostScript Text
3' UTR -759.073168-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF12874 - Zinc-finger of C2H2 type
PF18366 - Zic proteins zinc finger domain

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q15915
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0007399 nervous system development
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007628 adult walking behavior
GO:0008589 regulation of smoothened signaling pathway
GO:0021510 spinal cord development
GO:0030154 cell differentiation
GO:0042307 positive regulation of protein import into nucleus
GO:0042472 inner ear morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  D76435 - Homo sapiens mRNA for Zic protein, complete cds.
JD479483 - Sequence 460507 from Patent EP1572962.
JD038350 - Sequence 19374 from Patent EP1572962.
JD186261 - Sequence 167285 from Patent EP1572962.
JD103753 - Sequence 84777 from Patent EP1572962.
JD563582 - Sequence 544606 from Patent EP1572962.
JD102927 - Sequence 83951 from Patent EP1572962.
JD261327 - Sequence 242351 from Patent EP1572962.
BC104848 - Homo sapiens Zic family member 1 (odd-paired homolog, Drosophila), mRNA (cDNA clone MGC:132508 IMAGE:8143851), complete cds.
BC104850 - Homo sapiens Zic family member 1 (odd-paired homolog, Drosophila), mRNA (cDNA clone MGC:132510 IMAGE:8143853), complete cds.
KJ892398 - Synthetic construct Homo sapiens clone ccsbBroadEn_01792 ZIC1 gene, encodes complete protein.
AB464362 - Synthetic construct DNA, clone: pF1KB7757, Homo sapiens ZIC1 gene for Zic family member 1, without stop codon, in Flexi system.
JD353523 - Sequence 334547 from Patent EP1572962.
JD299124 - Sequence 280148 from Patent EP1572962.
JD244470 - Sequence 225494 from Patent EP1572962.
JD506431 - Sequence 487455 from Patent EP1572962.
JD502892 - Sequence 483916 from Patent EP1572962.
JD019354 - Sequence 378 from Patent EP1572962.
JD033632 - Sequence 14656 from Patent EP1572962.
JD028960 - Sequence 9984 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000282928.1, ENST00000282928.2, ENST00000282928.3, ENST00000282928.4, NM_003412, Q15915, Q2M3N1, uc317kba.1, uc317kba.2, ZIC, ZIC1_HUMAN, ZNF201
UCSC ID: ENST00000282928.5_4
RefSeq Accession: NM_003412.4
Protein: Q15915 (aka ZIC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.