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zinc finger protein 518 (ZNF518, ZNF518A)
Function:
- transcriptional regulation
- role in timing of menopause
* protein-truncating variants in ZNF518A are associated with earlier age at menopause (by 5.61 years) & later age at menarche (by 0.56 years) [2]
Structure:
1) belongs to the krueppel C2H2-type zinc-finger protein family
2) contains 5 C2H2-type zinc fingers
Compartment: nucleus
Alternative splicing: named isoforms=2
General
C2H2 type zinc finger protein
Properties
SIZE: MW = 167 kD
entity length = 1483 aa
COMPARTMENT: cell nucleus
MOTIF: Zn finger C2H2-type
SITE: 150-172
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 207-229
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 234-256
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 262-285
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 1449-1471
EFFECTOR-BOUND: Zn+2
Database Correlations
UniProt Q6AHZ1
Pfam PF00096
References
- UniProt :accession Q6AHZ1
- Ledford H
Why some women enter menopause early - and how that could affect their cancer risk.
Nature. 11 September 2024
PMID: 39261698
https://www.nature.com/articles/d41586-024-02905-5
- Stankovic S, Shekari S, Huang QQ et al
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Nature. 2024 Sep 11.
PMID: 39261734
https://www.nature.com/articles/s41586-024-07931-x