Human Gene CIZ1 (uc011mar.2) Description and Page Index
Description: Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 7, mRNA. RefSeq Summary (NM_001257976): The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Transcript (Including UTRs) Position: hg19 chr9:130,928,344-130,953,868 Size: 25,525 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr9:130,928,476-130,950,196 Size: 21,721 Coding Exon Count: 14
ID:CIZ1_HUMAN DESCRIPTION: RecName: Full=Cip1-interacting zinc finger protein; AltName: Full=CDKN1A-interacting zinc finger protein 1; AltName: Full=Nuclear protein NP94; AltName: Full=Zinc finger protein 356; FUNCTION: May regulate the subcellular localization of CIP/WAF1. SUBUNIT: Interacts with CIP/WAF1. INTERACTION: Q9P0V3:SH3BP4; NbExp=2; IntAct=EBI-2652948, EBI-1049513; SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=Defects in CIZ1 may be a cause of adult onset primary cervical dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Cervical dystonia or spasmodic torticollis, the most common form of focal dystonia, is characterized by involuntary contractions of the neck muscles, which produce abnormal posturing of the head upon the trunk. SIMILARITY: Contains 1 matrin-type zinc finger. SEQUENCE CAUTION: Sequence=AAF23231.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF37882.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ciz1/";
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.
Pfam Domains: PF12171 - Zinc-finger double-stranded RNA-binding PF12874 - Zinc-finger of C2H2 type
ModBase Predicted Comparative 3D Structure on Q9ULV3
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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.