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UniProtKB - O60481 (ZIC3_HUMAN)

Protein

Zinc finger protein ZIC 3

Gene

ZIC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri251 – 286C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST36
Zinc fingeri295 – 322C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri328 – 352C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri358 – 382C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri388 – 410C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-452723 Transcriptional regulation of pluripotent stem cells

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O60481

SIGNOR Signaling Network Open Resource

More...SIGNORi		O60481

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein ZIC 3
Alternative name(s):
Zinc finger protein 203
Zinc finger protein of the cerebellum 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZIC3
Synonyms:ZNF203
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000156925.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:12874 ZIC3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300265 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60481

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Heterotaxy, visceral, 1, X-linked (HTX1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.
See also OMIM:306955
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_025633253C → S in HTX1; increases strongly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 3 PublicationsCorresponds to variant dbSNP:rs104894961EnsemblClinVar.1
Natural variantiVAR_042416255W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 2 PublicationsCorresponds to variant dbSNP:rs122463168EnsemblClinVar.1
Natural variantiVAR_025634286H → R in HTX1; inreases weakly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 3 Publications1
Natural variantiVAR_007753323T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 PublicationsCorresponds to variant dbSNP:rs122462165EnsemblClinVar.1
Natural variantiVAR_025635405K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 PublicationsCorresponds to variant dbSNP:rs104894962EnsemblClinVar.1
VACTERL association X-linked with or without hydrocephalus (VACTERLX)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.
See also OMIM:314390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06662646A → AAA in VACTERLX. 1 Publication1
Natural variantiVAR_071333318H → N in VACTERLX; decrease in transcriptional activator activity; significant decrease in nuclear localization. 1 Publication1
Congenital heart defects, multiple types, 1, X-linked (CHTD1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.
See also OMIM:306955
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071332109S → C in CHTD1; does not affect its transcriptional activator activity; decrease in nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs373628598Ensembl.1
Natural variantiVAR_071334447A → G in CHTD1; Increase in transcriptional activator activity; decrease in nuclear localization. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi268C → S: Increases weakly its cytoplasmic localization. 1 Publication1
Mutagenesisi281H → R: Increases its cytoplasmic localization. 1 Publication1
Mutagenesisi304R → M: Increases its cytoplasmic localization. 1 Publication1
Mutagenesisi307K → M: Increases its cytoplasmic localization. 1 Publication1
Mutagenesisi310K → M: Increases its cytoplasmic localization. 1 Publication1
Mutagenesisi312K → M: Increases its cytoplasmic localization. 1 Publication1
Mutagenesisi314K → M: Does not increase its cytoplasmic localization. 1 Publication1
Mutagenesisi320R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-337; A-341; A-346; A-349 and A-350. 1 Publication1
Mutagenesisi326K → M: Does not increase its cytoplasmic localization. 1 Publication1
Mutagenesisi337K → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-341; A-346; A-349 and A-350. 1 Publication1
Mutagenesisi341R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-346; A-349 and A-350. 1 Publication1
Mutagenesisi346K → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-349 and A-350. 1 Publication1
Mutagenesisi349K → A: Increases its cytoplasmic localization. Does not interacts with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-346 and A-350. 1 Publication1
Mutagenesisi350R → A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A-346 and A-349. 1 Publication1
Mutagenesisi356K → A: Does not increase its cytoplasmic localization. 1 Publication1

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

DisGeNET

More...DisGeNETi		7547

MalaCards human disease database

More...MalaCardsi		ZIC3
MIMi306955 phenotype
314390 phenotype

Open Targets

More...OpenTargetsi		ENSG00000156925

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		216718 Isolated congenitally uncorrected transposition of the great arteries
157769 Situs ambiguus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37463

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ZIC3

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472501 – 467Zinc finger protein ZIC 3Add BLAST467

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki248Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60481

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60481

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O60481

PeptideAtlas

More...PeptideAtlasi		O60481

PRoteomics IDEntifications database

More...PRIDEi		O60481

ProteomicsDB human proteome resource

More...ProteomicsDBi		49422
49423 [O60481-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60481

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O60481

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000156925 Expressed in 51 organ(s), highest expression level in embryo

CleanEx database of gene expression profiles

More...CleanExi		HS_ZIC3

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60481 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA052936
HPA069523

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity (By similarity). Interacts with KPNA1 and KPNA6. Interacts (via C2H2-type domains 3, 4 and 5) with GLI3; the interaction enhances its transcriptional activity.By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		113379, 7 interactors

Protein interaction database and analysis system

More...IntActi		O60481, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000287538

<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

Secondary structure

1467
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O60481

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O60481

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O60481

<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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi297 – 322Nuclear localization signalAdd BLAST26
Motifi330 – 352Nuclear localization signalAdd BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi46 – 55Poly-Ala10
Compositional biasi87 – 97Poly-HisAdd BLAST11

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation.By similarity

<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

Belongs to the GLI C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri251 – 286C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST36
Zinc fingeri295 – 322C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri328 – 352C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri358 – 382C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri388 – 410C2H2-type 5PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160788

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000232057

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG007135

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60481

KEGG Orthology (KO)

More...KOi		K18487

Identification of Orthologs from Complete Genome Data

More...OMAi		KKTCDRT

Database of Orthologous Groups

More...OrthoDBi		EOG091G0M59

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60481

TreeFam database of animal gene trees

More...TreeFami		TF351425

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57667 SSF57667, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O60481-1) [UniParc]FASTAAdd to basket
Also known as: ZIC3-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTMLLDGGPQ FPGLGVGSFG APRHHEMPNR EPAGMGLNPF GDSTHAAAAA 
        60         70         80         90        100
AAAAAFKLSP AAAHDLSSGQ SSAFTPQGSG YANALGHHHH HHHHHHHTSQ 
       110        120        130        140        150
VPSYGGAASA AFNSTREFLF RQRSSGLSEA ASGGGQHGLF AGSASSLHAP 
       160        170        180        190        200
AGIPEPPSYL LFPGLHEQGA GHPSPTGHVD NNQVHLGLRG ELFGRADPYR 
       210        220        230        240        250
PVASPRTDPY AAGAQFPNYS PMNMNMGVNV AAHHGPGAFF RYMRQPIKQE 
       260        270        280        290        300
LSCKWIDEAQ LSRPKKSCDR TFSTMHELVT HVTMEHVGGP EQNNHVCYWE 
       310        320        330        340        350
ECPREGKSFK AKYKLVNHIR VHTGEKPFPC PFPGCGKIFA RSENLKIHKR 
       360        370        380        390        400
THTGEKPFKC EFEGCDRRFA NSSDRKKHMH VHTSDKPYIC KVCDKSYTHP 
       410        420        430        440        450
SSLRKHMKVH ESQGSDSSPA ASSGYESSTP PAIASANSKD TTKTPSAVQT 
       460 
STSHNPGLPP NFNEWYV
Length:467
Mass (Da):50,569
Last modified:August 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3150CF13C0679568
GO
Isoform 2 (identifier: O60481-2) [UniParc]FASTAAdd to basket
Also known as: ZIC3-B

The sequence of this isoform differs from the canonical sequence as follows:
     409-467: VHESQGSDSS...LPPNFNEWYV → CCPAWYPGQS...AEPTVQEMIY

Show »
Length:457
Mass (Da):50,045
Checksum:i28FFD09D87CC2AF5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07133017G → C Unknown pathological significance; no effect on its transcriptional activator activity or subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs147232392EnsemblClinVar.1
Natural variantiVAR_06662646A → AAA in VACTERLX. 1 Publication1
Natural variantiVAR_07133153A → AA Unknown pathological significance; no effect on its transcriptional activator activity or subcellular localization. 1 Publication1
Natural variantiVAR_071332109S → C in CHTD1; does not affect its transcriptional activator activity; decrease in nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs373628598Ensembl.1
Natural variantiVAR_025632217P → A in HTX1 and CHTD1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3; decrease in nuclear localization. 4 PublicationsCorresponds to variant dbSNP:rs104894963EnsemblClinVar.1
Natural variantiVAR_025633253C → S in HTX1; increases strongly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 3 PublicationsCorresponds to variant dbSNP:rs104894961EnsemblClinVar.1
Natural variantiVAR_042416255W → G in HTX1; decreases protein expression and transcriptional activity and increases its cytoplasmic localization. 2 PublicationsCorresponds to variant dbSNP:rs122463168EnsemblClinVar.1
Natural variantiVAR_025634286H → R in HTX1; inreases weakly its cytoplasmic localization; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 3 Publications1
Natural variantiVAR_071333318H → N in VACTERLX; decrease in transcriptional activator activity; significant decrease in nuclear localization. 1 Publication1
Natural variantiVAR_007753323T → M in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 PublicationsCorresponds to variant dbSNP:rs122462165EnsemblClinVar.1
Natural variantiVAR_025635405K → E in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3. 2 PublicationsCorresponds to variant dbSNP:rs104894962EnsemblClinVar.1
Natural variantiVAR_071334447A → G in CHTD1; Increase in transcriptional activator activity; decrease in nuclear localization. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044010409 – 467VHESQ…NEWYV → CCPAWYPGQSLIPDEELDTD VGMQQPALHNTTYPKCRVNA EPTVQEMIY in isoform 2. CuratedAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF028706 mRNA Translation: AAC05594.1
EU532020 mRNA Translation: ACB30403.1
AL035443 Genomic DNA No translation available.
BC113393 mRNA Translation: AAI13394.1
BC113395 mRNA Translation: AAI13396.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14663.1 [O60481-1]
CCDS83494.1 [O60481-2]

NCBI Reference Sequences

More...RefSeqi		NP_001317590.1, NM_001330661.1 [O60481-2]
NP_003404.1, NM_003413.3 [O60481-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.111227

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000287538; ENSP00000287538; ENSG00000156925 [O60481-1]
ENST00000370606; ENSP00000359638; ENSG00000156925 [O60481-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7547

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7547

UCSC genome browser

More...UCSCi		uc004fak.4 human [O60481-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF028706 mRNA Translation: AAC05594.1
EU532020 mRNA Translation: ACB30403.1
AL035443 Genomic DNA No translation available.
BC113393 mRNA Translation: AAI13394.1
BC113395 mRNA Translation: AAI13396.1
CCDSiCCDS14663.1 [O60481-1]
CCDS83494.1 [O60481-2]
RefSeqiNP_001317590.1, NM_001330661.1 [O60481-2]
NP_003404.1, NM_003413.3 [O60481-1]
UniGeneiHs.111227

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EJ4NMR-A245-326[»]
2RPCNMR-A245-386[»]
ProteinModelPortaliO60481
SMRiO60481
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113379, 7 interactors
IntActiO60481, 3 interactors
STRINGi9606.ENSP00000287538

PTM databases

iPTMnetiO60481
PhosphoSitePlusiO60481

Polymorphism and mutation databases

BioMutaiZIC3

Proteomic databases

EPDiO60481
MaxQBiO60481
PaxDbiO60481
PeptideAtlasiO60481
PRIDEiO60481
ProteomicsDBi49422
49423 [O60481-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		7547
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287538; ENSP00000287538; ENSG00000156925 [O60481-1]
ENST00000370606; ENSP00000359638; ENSG00000156925 [O60481-2]
GeneIDi7547
KEGGihsa:7547
UCSCiuc004fak.4 human [O60481-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7547
DisGeNETi7547
EuPathDBiHostDB:ENSG00000156925.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		ZIC3
HGNCiHGNC:12874 ZIC3
HPAiHPA052936
HPA069523
MalaCardsiZIC3
MIMi300265 gene
306955 phenotype
314390 phenotype
neXtProtiNX_O60481
OpenTargetsiENSG00000156925
Orphaneti216718 Isolated congenitally uncorrected transposition of the great arteries
157769 Situs ambiguus
PharmGKBiPA37463

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000160788
HOGENOMiHOG000232057
HOVERGENiHBG007135
InParanoidiO60481
KOiK18487
OMAiKKTCDRT
OrthoDBiEOG091G0M59
PhylomeDBiO60481
TreeFamiTF351425

Enzyme and pathway databases

ReactomeiR-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
SignaLinkiO60481
SIGNORiO60481

Miscellaneous databases

EvolutionaryTraceiO60481

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ZIC3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7547

Protein Ontology

More...PROi		PR:O60481

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000156925 Expressed in 51 organ(s), highest expression level in embryo
CleanExiHS_ZIC3
GenevisibleiO60481 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 4 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZIC3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60481
Secondary accession number(s): B2CNW4, Q14DE5, Q5JY75
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: December 5, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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