Protein-coding gene in the species Homo sapiens
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]
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 [ edit ] Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus .[ 6]
^ a b c ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 GRCh38: Ensembl release 89: ENSG00000226858, ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036036 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "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 . S2CID 205344550 . 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 .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
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