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

Gene ID: 7545, updated on 6-Jul-2014
Official Symbol
ZIC1provided by HGNC
Official Full Name
Zic family member 1provided by HGNC
Primary source
HGNC:12872
See related
Ensembl:ENSG00000152977; HPRD:02718; 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; 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]
See ZIC1 in Epigenomics, MapViewer
Location:
3q24
Exon count :
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ribosomal protein L21 pseudogene 71 Neighboring gene Zic family member 4 Neighboring gene uncharacterized LOC440982 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 28

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
  • 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

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
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, 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, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
zinc finger protein ZIC 1
Names
zinc finger protein ZIC 1
zinc finger protein 201
Zinc finger protein of the cerebellum 1
Zic family member 1 (odd-paired homolog, Drosophila)

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 

    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 proteins identical to NP_003403.2

    Status: REVIEWED

    Source sequence(s)
    AC092959, BF920299
    Consensus CDS
    CCDS3136.1
    UniProtKB/Swiss-Prot
    Q15915
    Related
    ENSP00000282928, OTTHUMP00000215402, ENST00000282928, OTTHUMT00000355497
    Conserved Domains (1) summary
    pfam13465
    Location:318345
    Blast Score: 95
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    144503350..144510663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

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