UniProtKB - Q15915 (ZIC1_HUMAN)
Protein
Zinc finger protein ZIC 1
Gene
ZIC1
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 225 – 260 | C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST | 36 | |
Zinc fingeri | 269 – 296 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 28 | |
Zinc fingeri | 302 – 326 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 332 – 356 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 362 – 384 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- adult walking behavior Source: Ensembl
- brain development Source: UniProtKB
- cell differentiation Source: UniProtKB-KW
- central nervous system development Source: GO_Central
- inner ear morphogenesis Source: UniProtKB
- pattern specification process Source: UniProtKB
- positive regulation of protein import into nucleus Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of smoothened signaling pathway Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- spinal cord development Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q15915 |
SignaLinki | Q15915 |
SIGNORi | Q15915 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein ZIC 1Alternative name(s): Zinc finger protein 201 Zinc finger protein of the cerebellum 1 |
Gene namesi | Name:ZIC1 Synonyms:ZIC, ZNF201 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000152977.9 |
HGNCi | HGNC:12872, ZIC1 |
MIMi | 600470, gene |
neXtProti | NX_Q15915 |
Subcellular locationi
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Craniosynostosis 6 (CRS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075867 | 400 | G → R in CRS6. 1 PublicationCorresponds to variant dbSNP:rs1057517670EnsemblClinVar. | 1 |
Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083723 | 388 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 60 | |
Natural variantiVAR_083724 | 389 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 59 | |
Natural variantiVAR_083725 | 402 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 46 |
Keywords - Diseasei
Craniosynostosis, Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 7545 |
MalaCardsi | ZIC1 |
MIMi | 616602, phenotype 618736, phenotype |
OpenTargetsi | ENSG00000152977 |
Orphaneti | 35099, Isolated brachycephaly 269212, Isolated Dandy-Walker malformation with hydrocephalus 269215, Isolated Dandy-Walker malformation without hydrocephalus 63440, Isolated oxycephaly 35098, Isolated plagiocephaly |
PharmGKBi | PA37461 |
Miscellaneous databases
Pharosi | Q15915, Tbio |
Polymorphism and mutation databases
BioMutai | ZIC1 |
DMDMi | 209572702 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000047244 | 1 – 447 | Zinc finger protein ZIC 1Add BLAST | 447 |
Proteomic databases
jPOSTi | Q15915 |
MassIVEi | Q15915 |
MaxQBi | Q15915 |
PaxDbi | Q15915 |
PeptideAtlasi | Q15915 |
PRIDEi | Q15915 |
ProteomicsDBi | 60816 |
PTM databases
iPTMneti | Q15915 |
PhosphoSitePlusi | Q15915 |
Expressioni
Tissue specificityi
CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other tumors examined.1 Publication
Gene expression databases
Bgeei | ENSG00000152977, Expressed in cerebellum and 168 other tissues |
ExpressionAtlasi | Q15915, baseline and differential |
Genevisiblei | Q15915, HS |
Organism-specific databases
HPAi | ENSG00000152977, Tissue enriched (brain) |
Interactioni
Subunit structurei
Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5).
Interacts with GLI1; the interaction enhances transcription activation.
Interacts with GLI2.
Interacts with GLI3; the interaction enhances transcription activation (By similarity).
By similarityBinary interactionsi
Q15915
Protein-protein interaction databases
BioGRIDi | 113377, 116 interactors |
IntActi | Q15915, 109 interactors |
STRINGi | 9606.ENSP00000282928 |
Miscellaneous databases
RNActi | Q15915, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 72 – 76 | Poly-Ala | 5 | |
Compositional biasi | 79 – 82 | Poly-His | 4 | |
Compositional biasi | 110 – 116 | Poly-Ala | 7 | |
Compositional biasi | 386 – 440 | Ser-richAdd BLAST | 55 |
Domaini
The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.By similarity
Sequence similaritiesi
Belongs to the GLI C2H2-type zinc-finger protein family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 225 – 260 | C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST | 36 | |
Zinc fingeri | 269 – 296 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 28 | |
Zinc fingeri | 302 – 326 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 332 – 356 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 362 – 384 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000160269 |
HOGENOMi | CLU_002678_37_1_1 |
InParanoidi | Q15915 |
OMAi | YGRAEQY |
OrthoDBi | 768287at2759 |
PhylomeDBi | Q15915 |
TreeFami | TF351425 |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type IPR041643, Znf_ZIC |
Pfami | View protein in Pfam PF00096, zf-C2H2, 3 hits PF18366, zf_ZIC, 1 hit |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 3 hits PS50157, ZINC_FINGER_C2H2_2, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q15915-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLLDAGPQYP AIGVTTFGAS RHHSAGDVAE RDVGLGINPF ADGMGAFKLN
60 70 80 90 100
PSSHELASAG QTAFTSQAPG YAAAAALGHH HHPGHVGSYS SAAFNSTRDF
110 120 130 140 150
LFRNRGFGDA AAAASAQHSL FAASAGGFGG PHGHTDAAGH LLFPGLHEQA
160 170 180 190 200
AGHASPNVVN GQMRLGFSGD MYPRPEQYGQ VTSPRSEHYA APQLHGYGPM
210 220 230 240 250
NVNMAAHHGA GAFFRYMRQP IKQELICKWI EPEQLANPKK SCNKTFSTMH
260 270 280 290 300
ELVTHVTVEH VGGPEQSNHI CFWEECPREG KPFKAKYKLV NHIRVHTGEK
310 320 330 340 350
PFPCPFPGCG KVFARSENLK IHKRTHTGEK PFKCEFEGCD RRFANSSDRK
360 370 380 390 400
KHMHVHTSDK PYLCKMCDKS YTHPSSLRKH MKVHESSSQG SQPSPAASSG
410 420 430 440
YESSTPPTIV SPSTDNPTTS SLSPSSSAVH HTAGHSALSS NFNEWYV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C5D8 | H7C5D8_HUMAN | Zinc finger protein ZIC 1 | ZIC1 | 136 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 377 | L → V in BAA11179 (PubMed:8542595).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083723 | 388 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 60 | |
Natural variantiVAR_083724 | 389 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 59 | |
Natural variantiVAR_075867 | 400 | G → R in CRS6. 1 PublicationCorresponds to variant dbSNP:rs1057517670EnsemblClinVar. | 1 | |
Natural variantiVAR_083725 | 402 – 447 | Missing in BAIDCS. 1 PublicationAdd BLAST | 46 | |
Natural variantiVAR_075868 | 414 | T → A1 PublicationCorresponds to variant dbSNP:rs143292136EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D76435 mRNA Translation: BAA11179.1 CH471052 Genomic DNA Translation: EAW78915.1 BC104848 mRNA Translation: AAI04849.1 BC104850 mRNA Translation: AAI04851.1 |
CCDSi | CCDS3136.1 |
RefSeqi | NP_003403.2, NM_003412.3 |
Genome annotation databases
Ensembli | ENST00000282928; ENSP00000282928; ENSG00000152977 |
GeneIDi | 7545 |
KEGGi | hsa:7545 |
UCSCi | uc003ewe.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D76435 mRNA Translation: BAA11179.1 CH471052 Genomic DNA Translation: EAW78915.1 BC104848 mRNA Translation: AAI04849.1 BC104850 mRNA Translation: AAI04851.1 |
CCDSi | CCDS3136.1 |
RefSeqi | NP_003403.2, NM_003412.3 |
3D structure databases
SMRi | Q15915 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 113377, 116 interactors |
IntActi | Q15915, 109 interactors |
STRINGi | 9606.ENSP00000282928 |
PTM databases
iPTMneti | Q15915 |
PhosphoSitePlusi | Q15915 |
Polymorphism and mutation databases
BioMutai | ZIC1 |
DMDMi | 209572702 |
Proteomic databases
jPOSTi | Q15915 |
MassIVEi | Q15915 |
MaxQBi | Q15915 |
PaxDbi | Q15915 |
PeptideAtlasi | Q15915 |
PRIDEi | Q15915 |
ProteomicsDBi | 60816 |
Protocols and materials databases
Antibodypediai | 1317, 404 antibodies |
Genome annotation databases
Ensembli | ENST00000282928; ENSP00000282928; ENSG00000152977 |
GeneIDi | 7545 |
KEGGi | hsa:7545 |
UCSCi | uc003ewe.4, human |
Organism-specific databases
CTDi | 7545 |
DisGeNETi | 7545 |
EuPathDBi | HostDB:ENSG00000152977.9 |
GeneCardsi | ZIC1 |
HGNCi | HGNC:12872, ZIC1 |
HPAi | ENSG00000152977, Tissue enriched (brain) |
MalaCardsi | ZIC1 |
MIMi | 600470, gene 616602, phenotype 618736, phenotype |
neXtProti | NX_Q15915 |
OpenTargetsi | ENSG00000152977 |
Orphaneti | 35099, Isolated brachycephaly 269212, Isolated Dandy-Walker malformation with hydrocephalus 269215, Isolated Dandy-Walker malformation without hydrocephalus 63440, Isolated oxycephaly 35098, Isolated plagiocephaly |
PharmGKBi | PA37461 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000160269 |
HOGENOMi | CLU_002678_37_1_1 |
InParanoidi | Q15915 |
OMAi | YGRAEQY |
OrthoDBi | 768287at2759 |
PhylomeDBi | Q15915 |
TreeFami | TF351425 |
Enzyme and pathway databases
PathwayCommonsi | Q15915 |
SignaLinki | Q15915 |
SIGNORi | Q15915 |
Miscellaneous databases
BioGRID-ORCSi | 7545, 7 hits in 870 CRISPR screens |
ChiTaRSi | ZIC1, human |
GeneWikii | ZIC1 |
GenomeRNAii | 7545 |
Pharosi | Q15915, Tbio |
PROi | PR:Q15915 |
RNActi | Q15915, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152977, Expressed in cerebellum and 168 other tissues |
ExpressionAtlasi | Q15915, baseline and differential |
Genevisiblei | Q15915, HS |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type IPR041643, Znf_ZIC |
Pfami | View protein in Pfam PF00096, zf-C2H2, 3 hits PF18366, zf_ZIC, 1 hit |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 5 hits |
SUPFAMi | SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 3 hits PS50157, ZINC_FINGER_C2H2_2, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZIC1_HUMAN | |
Accessioni | Q15915Primary (citable) accession number: Q15915 Secondary accession number(s): Q2M3N1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | October 14, 2008 | |
Last modified: | December 2, 2020 | |
This is version 183 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations