ID:ZN592_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein 592; FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ZNF592 are the cause of spinocerebellar ataxia autosomal recessive type 5 (SCAR5) [MIM:606937]. Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR5 patients show developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy. SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 13 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=BAA13202.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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 Q92610
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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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0005515 protein binding GO:0046872 metal ion binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
