Aliases for ZFP57 Gene
External Ids for ZFP57 Gene
Previous HGNC Symbols for ZFP57 Gene
Previous GeneCards Identifiers for ZFP57 Gene
The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
GeneCards Summary for ZFP57 Gene
ZFP57 (ZFP57 Zinc Finger Protein) is a Protein Coding gene. Diseases associated with ZFP57 include Diabetes Mellitus, Transient Neonatal, 1 and Diabetes Mellitus, 6Q24-Related Transient Neonatal. Among its related pathways are Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF287.
UniProtKB/Swiss-Prot Summary for ZFP57 Gene
Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity).