ZFP57 Knowpia

ZFP57
Identifiers
Aliases	ZFP57, C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2, ZFP57 zinc finger protein
External IDs	OMIM: 612192 MGI: 99204 HomoloGene: 7603 GeneCards: ZFP57
Gene location (Human)
Chr.	Chromosome 6 (human)
End	29,681,155 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	37,321,527 bp
RNA expression pattern
	Top expressed in
	substantia nigra; ; hippocampus proper; ; putamen; ; amygdala; ; hypothalamus; ; caudate nucleus; ; Brodmann area 9; ; placenta; ; nucleus accumbens; ; left ventricle;
	Top expressed in
	secondary oocyte; ; yolk sac; ; neural tube; ; blastocyst; ; ganglionic eminence; ; spermatid; ; morula; ; urethra; ; male urethra; ; internal carotid artery;
	More reference expression data
	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
	346171
	22715
ENSG00000226858; ENSG00000204644; ENSG00000223858; ENSG00000206510; ENSG00000223852;
	ENSG00000227858; ENSG00000232099; ENSG00000234669
	ENSMUSG00000036036
	Q9NU63
	Q8C6P8
	NM_001109809; NM_001366333
	NM_001013745; NM_001168501; NM_001168502; NM_009559
	NP_001103279; NP_001353262; NP_001103279.2
	NP_001013767; NP_001161973; NP_001161974
	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 edit

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]

References edit

^ ^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.

Further reading edit

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.

[refGRCh38Ensembl-1] ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 GRCh38: Ensembl release 89: ENSG00000226858, ENSG00000204644, ENSG00000223858, ENSG00000206510, ENSG00000223852, ENSG00000227858, ENSG00000232099, ENSG00000234669 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: zinc finger protein 57 homolog (mouse)".

[pmid18622393-6] 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.

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Summary

Function edit

Clinical significance edit

References edit

Further reading edit