Aliases for JMJD1C Gene
External Ids for JMJD1C Gene
Previous HGNC Symbols for JMJD1C Gene
Previous GeneCards Identifiers for JMJD1C Gene
The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for JMJD1C Gene
JMJD1C (Jumonji Domain Containing 1C) is a Protein Coding gene. Diseases associated with JMJD1C include Central Nervous System Germinoma and Rett Syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include thyroid hormone receptor binding and dioxygenase activity. An important paralog of this gene is HR.
UniProtKB/Swiss-Prot for JMJD1C Gene
Probable histone demethylase that specifically demethylates Lys-9 of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity).