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    ZIC1 Zic family member 1 [ Homo sapiens (human) ]

    Gene ID: 7545, updated on 28-Oct-2024

    Summary

    Official Symbol
    ZIC1provided by HGNC
    Official Full Name
    Zic family member 1provided by HGNC
    Primary source
    HGNC:HGNC:12872
    See related
    Ensembl:ENSG00000152977 MIM:600470; AllianceGenome:HGNC:12872
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZIC; CRS6; BAIDCS; ZNF201
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 3.1), liver (RPKM 0.5) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See ZIC1 in Genome Data Viewer
    Location:
    3q24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (147409365..147416719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (150164618..150171972)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (147127152..147134506)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine-rich repeat extensin-like protein 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:147094929-147095809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:147108264-147108780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:147108781-147109295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:147111165-147111666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:147113516-147114253 Neighboring gene ZIC4 antisense RNA 1 Neighboring gene VISTA enhancer hs1043 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:147126759-147127339 Neighboring gene Zic family member 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:147129965-147130804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:147130805-147131644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:147138023-147138951 Neighboring gene uncharacterized LOC440982 Neighboring gene nucleophosmin 1 pseudogene 28

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Craniosynostosis 6
    MedGen: C4225269 OMIM: 616602 GeneReviews: Not available
    Compare labs
    Structural brain anomalies with impaired intellectual development and craniosynostosis
    MedGen: C5231485 OMIM: 618736 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2021-07-19)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-19)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in maintenance of cell number IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc finger protein ZIC 1
    Names
    Zic family member 1 (odd-paired homolog, Drosophila)
    Zinc finger protein of the cerebellum 1
    zinc finger protein 201

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015886.1 RefSeqGene

      Range
      4972..12326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003412.4NP_003403.2  zinc finger protein ZIC 1

      See identical proteins and their annotated locations for NP_003403.2

      Status: REVIEWED

      Source sequence(s)
      AC092959, BF920299
      Consensus CDS
      CCDS3136.1
      UniProtKB/Swiss-Prot
      Q15915, Q2M3N1
      Related
      ENSP00000282928.4, ENST00000282928.5
      Conserved Domains (3) summary
      COG5189
      Location:298382
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:276296
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam18366
      Location:219264
      zf_ZIC; Zic proteins zinc finger domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      147409365..147416719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      150164618..150171972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)