Human Gene ZIC3 (ENST00000287538.10) from GENCODE V43
Description: Homo sapiens Zic family member 3 (ZIC3), transcript variant 1, mRNA. (from RefSeq NM_003413) RefSeq Summary (NM_003413): This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000287538.10 Gencode Gene: ENSG00000156925.12 Transcript (Including UTRs) Position: hg38 chrX:137,566,127-137,572,102 Size: 5,976 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chrX:137,566,692-137,570,070 Size: 3,379 Coding Exon Count: 3
ID:ZIC3_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein ZIC 3; AltName: Full=Zinc finger protein 203; AltName: Full=Zinc finger protein of the cerebellum 3; 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'. SUBUNIT: 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. SUBCELLULAR LOCATION: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC overexpression (By similarity). Translocation to the nucleus requires KPNA1 or KPNA6. DOMAIN: The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation (By similarity). DISEASE: Defects in ZIC3 are the cause of visceral heterotaxy X- linked type 1 (HTX1) [MIM:306955]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy X- linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia. DISEASE: Defects in ZIC3 are a cause of VACTERL association X- linked with or without hydrocephalus (VACTERLX) [MIM:314390]. A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (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. SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family. SIMILARITY: Contains 5 C2H2-type zinc fingers. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZIC3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60481
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding 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:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007368 determination of left/right symmetry GO:0007389 pattern specification process GO:0007399 nervous system development GO:0009952 anterior/posterior pattern specification GO:0030154 cell differentiation GO:0030324 lung development GO:0035019 somatic stem cell population maintenance GO:0035469 determination of pancreatic left/right asymmetry GO:0035545 determination of left/right asymmetry in nervous system 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
US Server
