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JmjC domain-containing histone demethylation protein 2C; Jumonji domain-containing protein 1C; thyroid receptor-interacting protein 8; TR-interacting protein 8; TRIP-8 (JMJD1C, JHDM2C, KIAA1380, TRIP8)
Function:
- probable histone demethylase that specifically demethylates Lys-9 of histone H3, thus playing a role in histone code
- demethylation of Lys generates formaldehyde & succinate
- may be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (putative)
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts specifically with the ligand-binding domain of the thyroid hormone receptor; requires presence of thyroid hormone for its interaction
Cofactor:
- binds 1 Fe+2 ion per subunit (putative)
Structure:
- Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to mediate association with nuclear receptors (putative)
- belongs to the JHDM2 histone demethylase family
- contains 1 JmjC domain
Compartment: nucleus (putative)
Alternative splicing: named isoforms=2
Pathology:
- JMJD1C gene variants associated positively endogenous serum testosterone [3] & with thromboembolism (odds ratio, 2.1) & heart failure (OR, 7.8) in men [2]
- associateions not as marked in women
General
histone demethylase
phosphoprotein
thyroid hormone receptor interacting protein (TRIP)
zinc finger protein
Properties
SIZE: entity length = 2540 aa
MW = 285 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S317}
Ser phosphorylation site {S373}
Ser phosphorylation site {S376}
Ser phosphorylation site {S379}
Ser phosphorylation site {S430}
Ser phosphorylation site {S638}
Ser phosphorylation site {S641}
Zinc finger
NAME: Zinc finger
SITE: 1846-1871
EFFECTOR-BOUND: Zn+2
LXXLL {2066-2070}
JmjC {2274-2498}
MOTIF: Iron [Fe]-binding site
SITE: 2336-2336
Iron [Fe]-binding site
SITE: 2338-2338
Iron [Fe]-binding site
SITE: 2466-2466
Database Correlations
OMIM 604503
UniProt Q15652
Pfam PF02373
Entrez Gene 221037
Kegg hsa:221037
References
- UniProt :accession Q15652
- Luo S et al.
Association of genetically predicted testosterone with thromboembolism,
heart failure, and myocardial infarction: Mendelian randomisation
study in UK Biobank.
BMJ 2019 Mar 6; 364:l476
PMID: 30842065 Free PMC Article
https://www.bmj.com/content/364/bmj.l476
- Jin G, Sun J, Kim ST, Feng J et al
Genome-wide association study identifies a new locus JMJD1C at 10q21
that may influence serum androgen levels in men.
Hum Mol Genet. 2012 Dec 1;21(23):5222-8. Epub 2012 Aug 30.
PMID: 22936694 Free PMC Article