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

Gene ID: 7545, updated on 10-Dec-2019

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
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]
Expression
Biased expression in brain (RPKM 3.1), liver (RPKM 0.5) and 1 other tissue See more
Orthologs

Genomic context

See ZIC1 in Genome Data Viewer
Location:
3q24
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (147409365..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 VISTA enhancer hs213 Neighboring gene VISTA enhancer hs1043 Neighboring gene Zic family member 4 Neighboring gene uncharacterized LOC440982 Neighboring gene nucleophosmin 1 pseudogene 28

Genomic regions, transcripts, and products

Expression

  • 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 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

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II 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
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Related
    ENSP00000282928.4, ENST00000282928.5
    Conserved Domains (2) 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]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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