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

    Gene ID: 7545, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000159456
    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; 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]
    Orthologs
    Location:
    3q24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (147409394..147416719)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (147127181..147134506)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986139 Neighboring gene ribosomal protein L21 pseudogene 71 Neighboring gene Zic family member 4 Neighboring gene uncharacterized LOC440982 Neighboring gene nucleophosmin 1 pseudogene 28

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Craniosynostosis 6
    MedGen: CN233152 OMIM: 616602 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2012-03-22)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    NHGRI GWA Catalog
    • Differentiation of white and brown adipocyte, organism-specific biosystem (from WikiPathways)
      Differentiation of white and brown adipocyte, organism-specific biosystemDevelopment of white versus brown adipocytes (figure from Handbook of Obesity). Transcription factors and nuclear regulators controlling the development of white versus brown adipocytes are shown in ...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..12326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003412.3NP_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
      Related
      ENSP00000282928.4, OTTHUMP00000215402, ENST00000282928.4, OTTHUMT00000355497
      Conserved Domains (3) summary
      sd00017
      Location:276296
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:362384
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:318345
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      147409394..147416719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      147090188..147097518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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