ZFP57

Protein-coding gene in the species Homo sapiens
ZFP57
Identifiers
AliasesZFP57, C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2, ZFP57 zinc finger protein
External IDsOMIM: 612192 MGI: 99204 HomoloGene: 7603 GeneCards: ZFP57
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for ZFP57
Genomic location for ZFP57
Band6p22.1Start29,672,483 bp[1]
End29,681,155 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for ZFP57
Genomic location for ZFP57
Band17 B1|17Start37,312,055 bp[2]
End37,321,527 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
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
SpeciesHumanMouse
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 MbChr 17: 37.31 – 37.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ 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
  2. ^ a b c 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. ^ a b "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.
  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(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) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies

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


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