InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZIC3

Summary

InnateDB Protein

IDBP-87787.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZIC3

Protein Name

Zic family member 3

Synonyms

HTX; HTX1; VACTERLX; ZNF203;

Species

Homo sapiens

Ensembl Protein

ENSP00000359638

InnateDB Gene

IDBG-87783 (ZIC3)

Protein Structure

UniProt Annotation

Function

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'. {ECO:0000269PubMed:17764085}.

Subcellular Localization

Nucleus. Cytoplasm {ECO:0000250}. Note=Localizes in the cytoplasm in presence of MDFIC overexpression (By similarity). Translocation to the nucleus requires KPNA1 or KPNA6. {ECO:0000250}.

Disease Associations

Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]: A 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. {ECO:0000269PubMed:14681828, ECO:0000269PubMed:17295247, ECO:0000269PubMed:9354794}. Note=The disease is caused by mutations affecting the gene represented in this entry.VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]: A 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. {ECO:0000269PubMed:20452998}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]: A 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. {ECO:0000269PubMed:14681828}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0001947	heart looping
GO:0006351	transcription, DNA-templated
GO:0007368	determination of left/right symmetry
GO:0030154	cell differentiation
GO:0030324	lung development
GO:0035469	determination of pancreatic left/right asymmetry
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0071907	determination of digestive tract left/right asymmetry
GO:0071910	determination of liver left/right asymmetry