ZFP57

ZFP57
Identifiers
Aliases	ZFP57, C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2, ZFP57 zinc finger protein
External IDs	MGI: 99204 HomoloGene: 7603 GeneCards: ZFP57
Gene ontology Molecular function • DNA binding • metal ion binding • nucleic acid binding Cellular component • nuclear heterochromatin • intracellular • nucleus Biological process • multicellular organism development • regulation of gene expression by genetic imprinting • DNA methylation involved in embryo development • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	346171	22715
Ensembl	n/a	ENSMUSG00000036036
UniProt	Q9NU63	Q8C6P8
RefSeq (mRNA)	NM_001109809	NM_001013745 NM_001168501 NM_001168502 NM_009559
RefSeq (protein)	NP_001103279.2 NP_001103279.2	NP_001013767.1 NP_001161973.1 NP_001161974.1
Location (UCSC)	Chr 6: 29.67 – 29.68 Mb	Chr 17: 37 – 37.01 Mb
PubMed search	[1]	[2]
Wikidata

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Zinc finger protein 57 homolog (ZFP57), also known as zinc finger protein 698 (ZNF698), is a protein that in humans is encoded by the ZFP57 gene.^[3]

Function

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.^[3]

Clinical significance

Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus.^[4]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: zinc finger protein 57 homolog (mouse)".
4. Mackay DJ, Callaway JL, Marks SM, et al. (August 2008). "Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57". Nat. Genet. 40 (8): 949–51. doi:10.1038/ng.187. PMID 18622393.

Further reading

• Li X, Ito M, Zhou F, et al. (2008). "A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.". Dev. Cell. 15 (4): 547–57. doi:10.1016/j.devcel.2008.08.014. PMC 2593089. PMID 18854139.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Barcellos LF, May SL, Ramsay PP, et al. (2009). "High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.". PLoS Genet. 5 (10): e1000696. doi:10.1371/journal.pgen.1000696. PMC 2758598. PMID 19851445.
• Okazaki S, Tanase S, Choudhury BK, et al. (1994). "A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.". J. Biol. Chem. 269 (9): 6900–7. PMID 8120052.
• Alonso MB, Zoidl G, Taveggia C, et al. (2004). "Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.". J. Biol. Chem. 279 (24): 25653–64. doi:10.1074/jbc.M400415200. PMID 15070898.
• Mackay DJ, Callaway JL, Marks SM, et al. (2008). "Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.". Nat. Genet. 40 (8): 949–51. doi:10.1038/ng.187. PMID 18622393.
• Spengler S, Gogiel M, Schönherr N, Binder G, Eggermann T (2009). "Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations". Eur J Med Genet. 52 (6): 415–6. doi:10.1016/j.ejmg.2009.07.005. PMID 19632365.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.