ZIC1

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	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 factor activity Source: UniProtKB
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
metal ion binding Source: UniProtKB-KW
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
RNA polymerase II regulatory region sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

adult walking behavior Source: Ensembl
brain development
Source: UniProtKB
Inferred from direct assayⁱ
- 8542595
cell differentiation Source: UniProtKB-KW
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
spinal cord development Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding
Biological process	Differentiation, Neurogenesis, Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

SignaLinkⁱ	Q15915
SIGNORⁱ	Q15915

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Zinc finger protein ZIC 1 Alternative 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000152977.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:12872 ZIC1
MIMⁱ	600470 gene
neXtProtⁱ	NX_Q15915

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & 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.

Keywords - Diseaseⁱ

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7545
MalaCards human disease database More...MalaCardsⁱ	ZIC1
MIMⁱ	616602 phenotype
Open Targets More...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

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

EPDⁱ	Q15915
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q15915
PaxDbⁱ	Q15915
PeptideAtlas More...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 147 organ(s), highest expression level in cerebellum
CleanExⁱ	HS_ZIC1
ExpressionAtlasⁱ	Q15915 baseline and differential
Genevisibleⁱ	Q15915 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA004098

HPAⁱ

HPA004098

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 similarity

Protein-protein interaction databases

BioGridⁱ	113377, 48 interactors
IntActⁱ	Q15915, 66 interactors
STRINGⁱ	9606.ENSP00000282928

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q15915
SMRⁱ	Q15915
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	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	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-finger

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140802
HOGENOMⁱ	HOG000232057
HOVERGENⁱ	HBG007135
InParanoidⁱ	Q15915
KEGG Orthology (KO) More...KOⁱ	K09224
OMAⁱ	MGAFKIN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0M59
PhylomeDBⁱ	Q15915
TreeFamⁱ	TF351425

Family and domain databases

InterProⁱ	View protein in InterPro IPR036236 Znf_C2H2_sf IPR013087 Znf_C2H2_type
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00096 zf-C2H2, 3 hits
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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

Q15915-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:447

Mass (Da):48,309

Last modified:October 14, 2008 - v2

Checksum:ⁱ4DA3E32C99BF1AAE

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	H7C5D8	H7C5D8_HUMAN		Zinc finger protein ZIC 1 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_075867	400	G → R in CRS6. 1 PublicationCorresponds to variant dbSNP:rs1057517670Ensembl.		1
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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3136.1
NCBI Reference Sequences More...RefSeqⁱ	NP_003403.2, NM_003412.3
UniGeneⁱ	Hs.598590 Hs.647962

Genome annotation databases

Ensemblⁱ	ENST00000282928; ENSP00000282928; ENSG00000152977
GeneIDⁱ	7545
KEGGⁱ	hsa:7545
UCSC genome browser More...UCSCⁱ	uc003ewe.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q15915	ZIC1 isoform 4		PANTR		447	UniRef100_Q15915
Zinc finger protein ZIC 1		CALJA		447
Uncharacterized protein		PROCO		447
Uncharacterized protein		MACMU		447
Uncharacterized protein		Cebus capucinus imitator		447
+16

Protein	Similar proteins		Species	Score	Length	Source
Q15915	Zinc finger protein ZIC 1		MOUSE		447	UniRef90_P46684
Zic family member 1		RAT		447
zinc finger protein ZIC 1		MESAU		447
Uncharacterized protein		NEOLE		447
Zinc finger protein ZIC 1		CRIGR		248
+62

Protein	Similar proteins		Species	Score	Length	Source
Q15915	Zinc finger protein ZIC 1		MOUSE		447	UniRef50_P46684
Zic family member 1		RAT		447
zinc finger protein ZIC 1		MESAU		447
Uncharacterized protein		NEOLE		447
Zinc finger protein ZIC 1		CRIGR		248
+771

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
UniGeneⁱ	Hs.598590 Hs.647962

3D structure databases

ProteinModelPortalⁱ	Q15915
SMRⁱ	Q15915
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113377, 48 interactors
IntActⁱ	Q15915, 66 interactors
STRINGⁱ	9606.ENSP00000282928

PTM databases

iPTMnetⁱ	Q15915
PhosphoSitePlusⁱ	Q15915

Polymorphism and mutation databases

BioMutaⁱ	ZIC1
DMDMⁱ	209572702

Proteomic databases

EPDⁱ	Q15915
MaxQBⁱ	Q15915
PaxDbⁱ	Q15915
PeptideAtlasⁱ	Q15915
PRIDEⁱ	Q15915
ProteomicsDBⁱ	60816

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

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	HPA004098
MalaCardsⁱ	ZIC1
MIMⁱ	600470 gene 616602 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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
GeneTreeⁱ	ENSGT00900000140802
HOGENOMⁱ	HOG000232057
HOVERGENⁱ	HBG007135
InParanoidⁱ	Q15915
KOⁱ	K09224
OMAⁱ	MGAFKIN
OrthoDBⁱ	EOG091G0M59
PhylomeDBⁱ	Q15915
TreeFamⁱ	TF351425

Enzyme and pathway databases

SignaLinkⁱ	Q15915
SIGNORⁱ	Q15915

Miscellaneous databases

ChiTaRSⁱ	ZIC1 human
GeneWikiⁱ	ZIC1
GenomeRNAiⁱ	7545
Protein Ontology More...PROⁱ	PR:Q15915
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000152977 Expressed in 147 organ(s), highest expression level in cerebellum
CleanExⁱ	HS_ZIC1
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
Pfamⁱ	View protein in Pfam PF00096 zf-C2H2, 3 hits
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...

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:	November 7, 2018
	This is version 167 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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

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UniRef

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Supporting data

UniProtKB - Q15915 (ZIC1_HUMAN)

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Zinc finger protein ZIC 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ