ZFP57

ZFP57
Identifiers
Aliases	ZFP57 , C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2, ZFP57 zinc finger protein
External IDs	OMIM: 612192; MGI: 99204; HomoloGene: 7603; GeneCards: ZFP57; OMA:ZFP57 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p22.1 Start 29,672,483 bp [1] End 29,681,155 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 B1|17 Start 37,312,055 bp [2] End 37,321,527 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad C1 segment testicle substantia nigra hippocampus proper putamen amygdala hypothalamus primary visual cortex caudate nucleus Top expressed in secondary oocyte genital tubercle zygote yolk sac primary oocyte neural tube blastocyst ventricular zone tail of embryo ganglionic eminence More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding metal ion binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component intracellular anatomical structure nucleus Biological process multicellular organism development regulation of transcription, DNA-templated transcription, DNA-templated regulation of gene expression by genetic imprinting DNA methylation involved in embryo development regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 346171 22715 Ensembl ENSG00000226858 ENSG00000204644 ENSG00000223858 ENSG00000206510 ENSG00000223852 ENSG00000227858 ENSG00000232099 ENSG00000234669 ENSMUSG00000036036 UniProt Q9NU63 Q8C6P8 RefSeq (mRNA) NM_001109809 NM_001366333 NM_001013745 NM_001168501 NM_001168502 NM_009559 RefSeq (protein) NP_001103279 NP_001353262 NP_001103279.2 NP_001013767 NP_001161973 NP_001161974 Location (UCSC) Chr 6: 29.67 – 29.68 Mb Chr 17: 37.31 – 37.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^[5]

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. ^[5]

Clinical significance

Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus. ^[6]

References

1. ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 GRCh38: Ensembl release 89: ENSG00000226858, ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036036 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: zinc finger protein 57 homolog (mouse)".
6. 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. S2CID   205344550.

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. Bibcode:2002PNAS...9916899M. 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. doi: 10.1016/S0021-9258(17)37460-4 . 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. S2CID   205344550.
• 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.