ZFP57
| ZFP57 zinc finger protein | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | ZFP57 ; C6orf40; TNDM1; ZNF698; bA145L22; bA145L22.2 | ||||||||||||
| External IDs | OMIM: 612192 MGI: 99204 HomoloGene: 7603 GeneCards: ZFP57 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 346171 | 22715 | |||||||||||
| Ensembl | ENSG00000204644 | ENSMUSG00000036036 | |||||||||||
| UniProt | Q9NU63 | Q8C6P8 | |||||||||||
| RefSeq (mRNA) | NM_001109809 | NM_001013745 | |||||||||||
| RefSeq (protein) | NP_001103279 | NP_001013767 | |||||||||||
| Location (UCSC) | Chr 6: 29.64 – 29.65 Mb | Chr 17: 37 – 37.01 Mb | |||||||||||
| PubMed search | |||||||||||||
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.[1]
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.[1]
Clinical significance
Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus.[2]
References
- ↑ 1.0 1.1 "Entrez Gene: zinc finger protein 57 homolog (mouse)".
- ↑ 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.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.