InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZFP57

Summary

InnateDB Protein

IDBP-73690.5

Last Modified

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

Gene Symbol

ZFP57

Protein Name

zinc finger protein 57 homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000366078

InnateDB Gene

IDBG-73686 (ZFP57)

Protein Structure

UniProt Annotation

Function

Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity). 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. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. {ECO:0000250, ECO:0000269PubMed:18622393}.

Subcellular Localization

Nucleus {ECO:0000250}. Note=Binds various differentially methylated regions (DMR), including the SNRPN DMR. {ECO:0000250}.

Disease Associations

Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. {ECO:0000269PubMed:18622393}. 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	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006349	regulation of gene expression by genetic imprinting
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0043045	DNA methylation involved in embryo development