ZIC1

Protein identityUniProt · HPA

UniProt accession

Q15915

Gene

ZIC1

Ensembl

ENSG00000152977

Chromosome

3

Canonical length

447 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>Q15915|ZIC1
     1  MLLDAGPQYP AIGVTTFGAS RHHSAGDVAE RDVGLGINPF ADGMGAFKLN PSSHELASAG
    61  QTAFTSQAPG YAAAAALGHH HHPGHVGSYS SAAFNSTRDF LFRNRGFGDA AAAASAQHSL
   121  FAASAGGFGG PHGHTDAAGH LLFPGLHEQA AGHASPNVVN GQMRLGFSGD MYPRPEQYGQ
   181  VTSPRSEHYA APQLHGYGPM NVNMAAHHGA GAFFRYMRQP IKQELICKWI EPEQLANPKK
   241  SCNKTFSTMH ELVTHVTVEH VGGPEQSNHI CFWEECPREG KPFKAKYKLV NHIRVHTGEK
   301  PFPCPFPGCG KVFARSENLK IHKRTHTGEK PFKCEFEGCD RRFANSSDRK KHMHVHTSDK
   361  PYLCKMCDKS YTHPSSLRKH MKVHESSSQG SQPSPAASSG YESSTPPTIV SPSTDNPTTS
   421  SLSPSSSAVH HTAGHSALSS NFNEWYV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZIC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

536 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZIC1.

Disease | AllUniProt

Conditions ZIC1 is implicated in, by any mechanism.

• Craniosynostosis 6 (CRS6) MIM:616602
• Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS) MIM:618736

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 203 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Structural brain anomalies with impaired intellectual development and craniosynostosis
• Craniosynostosis 6
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.36

gnomAD pLI

0.93

gnomAD missense Z

2.57

DepMap mean gene effect

0.11

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult walking behavior
• brain development
• cell differentiation
• central nervous system development
• gene expression
• hippocampus development
• inner ear morphogenesis
• maintenance of cell number
• olfactory bulb development
• pattern specification process
• positive regulation of DNA-templated transcription
• positive regulation of protein import into nucleus
• regulation of smoothened signaling pathway
• regulation of transcription by RNA polymerase II
• spinal cord development

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• cytoplasm
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• ZIC protein, zinc finger domain
• C2H2-type zinc-finger protein GLI-like
• ZIC1-5/GLI1-3like, C2H2 zinc finger
• Zinc finger, C2H2 type
• Zic proteins zinc finger domain
• C2H2 zinc finger

KeywordsUniProt

• Activator
• Craniosynostosis
• Cytoplasm
• Developmental protein
• Differentiation
• DNA-binding
• Intellectual disability
• Metal-binding
• Neurogenesis
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of ZIC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GLI1
• GLI2
• GLI3